Incidental Mutation 'R1458:Zfp638'
| ID |
161874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp638
|
| Ensembl Gene |
ENSMUSG00000030016 |
| Gene Name |
zinc finger protein 638 |
| Synonyms |
Np220, Zfml |
| MMRRC Submission |
039513-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R1458 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
83844050-83963855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83921638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 588
(H588Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032088]
[ENSMUST00000113835]
[ENSMUST00000113836]
[ENSMUST00000203273]
[ENSMUST00000203324]
[ENSMUST00000203455]
[ENSMUST00000204751]
[ENSMUST00000203891]
[ENSMUST00000204202]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032088
AA Change: H588Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032088
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_U1
|
421 |
455 |
5.93e0 |
SMART |
|
ZnF_C2H2
|
424 |
448 |
1.36e1 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
2.04e-6 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
RRM
|
903 |
972 |
9.04e-3 |
SMART |
|
Blast:RRM_2
|
1007 |
1075 |
4e-25 |
BLAST |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1399 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1512 |
1526 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1771 |
N/A |
INTRINSIC |
|
ZnF_U1
|
1873 |
1907 |
2.84e-8 |
SMART |
|
ZnF_C2H2
|
1876 |
1900 |
2.14e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113835
AA Change: H588Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109466
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_U1
|
421 |
455 |
5.93e0 |
SMART |
|
ZnF_C2H2
|
424 |
448 |
1.36e1 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
2.04e-6 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
RRM
|
880 |
949 |
9.04e-3 |
SMART |
|
Blast:RRM_2
|
984 |
1052 |
2e-25 |
BLAST |
|
low complexity region
|
1095 |
1109 |
N/A |
INTRINSIC |
|
ZnF_U1
|
1218 |
1252 |
2.84e-8 |
SMART |
|
ZnF_C2H2
|
1221 |
1245 |
2.14e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113836
AA Change: H588Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109467
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_U1
|
421 |
455 |
5.93e0 |
SMART |
|
ZnF_C2H2
|
424 |
448 |
1.36e1 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
2.04e-6 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
RRM
|
903 |
972 |
9.04e-3 |
SMART |
|
Blast:RRM_2
|
1007 |
1075 |
2e-25 |
BLAST |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
ZnF_U1
|
1222 |
1256 |
2.84e-8 |
SMART |
|
ZnF_C2H2
|
1225 |
1249 |
2.14e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203273
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203324
AA Change: H588Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145124
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_U1
|
421 |
455 |
3.5e-2 |
SMART |
|
ZnF_C2H2
|
424 |
448 |
5.9e-2 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
9.1e-9 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
RRM
|
903 |
972 |
3.9e-5 |
SMART |
|
Blast:RRM_2
|
1007 |
1075 |
2e-25 |
BLAST |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
ZnF_U1
|
1220 |
1254 |
1.7e-10 |
SMART |
|
ZnF_C2H2
|
1223 |
1247 |
8.9e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203455
AA Change: H588Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145047
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
424 |
448 |
1.36e1 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
2.04e-6 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
819 |
891 |
3.29e-10 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203808
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204751
AA Change: H588Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144989
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_U1
|
421 |
455 |
5.93e0 |
SMART |
|
ZnF_C2H2
|
424 |
448 |
1.36e1 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
2.04e-6 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
RRM
|
903 |
972 |
9.04e-3 |
SMART |
|
Blast:RRM_2
|
1007 |
1075 |
4e-25 |
BLAST |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
low complexity region
|
1399 |
1412 |
N/A |
INTRINSIC |
|
low complexity region
|
1512 |
1526 |
N/A |
INTRINSIC |
|
low complexity region
|
1761 |
1771 |
N/A |
INTRINSIC |
|
ZnF_U1
|
1873 |
1907 |
2.84e-8 |
SMART |
|
ZnF_C2H2
|
1876 |
1900 |
2.14e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203891
AA Change: H588Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144939
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_U1
|
421 |
455 |
3.5e-2 |
SMART |
|
ZnF_C2H2
|
424 |
448 |
5.9e-2 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
9.1e-9 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
RRM
|
903 |
972 |
3.9e-5 |
SMART |
|
Blast:RRM_2
|
1007 |
1075 |
2e-25 |
BLAST |
|
low complexity region
|
1118 |
1132 |
N/A |
INTRINSIC |
|
ZnF_U1
|
1186 |
1220 |
1.7e-10 |
SMART |
|
ZnF_C2H2
|
1189 |
1213 |
8.9e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204202
AA Change: H588Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145170
Gene: ENSMUSG00000030016
AA Change: H588Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
324 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
424 |
448 |
5.9e-2 |
SMART |
|
low complexity region
|
482 |
523 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
631 |
N/A |
INTRINSIC |
|
RRM
|
677 |
747 |
9.1e-9 |
SMART |
|
low complexity region
|
749 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
802 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204110
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204713
|
| Meta Mutation Damage Score |
0.0681 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| Validation Efficiency |
98% (95/97) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700036A12Rik |
A |
G |
9: 60,677,043 (GRCm39) |
|
noncoding transcript |
Het |
| A430110L20Rik |
T |
A |
1: 181,055,423 (GRCm39) |
|
noncoding transcript |
Het |
| Abce1 |
T |
C |
8: 80,433,864 (GRCm39) |
K63R |
possibly damaging |
Het |
| Acp6 |
A |
G |
3: 97,081,104 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
A |
2: 26,878,366 (GRCm39) |
L579Q |
probably damaging |
Het |
| Adamtsl3 |
T |
A |
7: 82,172,528 (GRCm39) |
M497K |
probably damaging |
Het |
| Adgrb2 |
T |
A |
4: 129,908,384 (GRCm39) |
M1042K |
possibly damaging |
Het |
| Akap12 |
A |
T |
10: 4,303,693 (GRCm39) |
S168C |
probably damaging |
Het |
| Akap3 |
A |
T |
6: 126,842,517 (GRCm39) |
M379L |
probably damaging |
Het |
| Aldh6a1 |
C |
T |
12: 84,486,437 (GRCm39) |
M135I |
probably null |
Het |
| Arhgef12 |
A |
G |
9: 42,900,294 (GRCm39) |
S860P |
probably damaging |
Het |
| Atp11b |
A |
C |
3: 35,843,707 (GRCm39) |
T185P |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,229,871 (GRCm39) |
D243G |
probably damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,865,685 (GRCm39) |
S228T |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,979,162 (GRCm39) |
|
probably benign |
Het |
| Cimap1d |
A |
T |
10: 79,481,392 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,201,835 (GRCm39) |
I3376L |
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,573,535 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,404,451 (GRCm39) |
P2697Q |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,646,217 (GRCm39) |
|
probably benign |
Het |
| Drd2 |
G |
A |
9: 49,313,512 (GRCm39) |
R227H |
probably damaging |
Het |
| Dscc1 |
C |
A |
15: 54,950,160 (GRCm39) |
C195F |
probably damaging |
Het |
| Dzip1 |
T |
A |
14: 119,160,125 (GRCm39) |
M28L |
probably benign |
Het |
| Edar |
A |
T |
10: 58,443,188 (GRCm39) |
S313T |
probably benign |
Het |
| Eef1e1 |
C |
A |
13: 38,840,099 (GRCm39) |
A69S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,143,849 (GRCm39) |
V2760A |
probably benign |
Het |
| Fez1 |
GACAAACA |
GACA |
9: 36,781,845 (GRCm39) |
|
probably null |
Het |
| Fgl1 |
C |
G |
8: 41,663,496 (GRCm39) |
A11P |
possibly damaging |
Het |
| Fras1 |
T |
C |
5: 96,748,592 (GRCm39) |
V689A |
probably benign |
Het |
| Fry |
T |
A |
5: 150,304,324 (GRCm39) |
D571E |
probably damaging |
Het |
| Gm11232 |
T |
A |
4: 71,675,450 (GRCm39) |
R104* |
probably null |
Het |
| Gm1527 |
A |
G |
3: 28,972,199 (GRCm39) |
I439V |
possibly damaging |
Het |
| Gm4922 |
C |
A |
10: 18,659,640 (GRCm39) |
G361* |
probably null |
Het |
| Gm7052 |
T |
A |
17: 22,259,447 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
A |
T |
11: 102,372,055 (GRCm39) |
S494R |
unknown |
Het |
| Gria2 |
A |
T |
3: 80,639,352 (GRCm39) |
V220E |
possibly damaging |
Het |
| Grik4 |
G |
A |
9: 42,432,418 (GRCm39) |
H860Y |
probably benign |
Het |
| Gtpbp1 |
A |
C |
15: 79,591,930 (GRCm39) |
S93R |
probably damaging |
Het |
| Gucy2g |
C |
A |
19: 55,203,468 (GRCm39) |
|
probably benign |
Het |
| H2ac8 |
C |
A |
13: 23,755,221 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,485,451 (GRCm39) |
R4384C |
probably damaging |
Het |
| Hspa12b |
G |
C |
2: 130,987,112 (GRCm39) |
A678P |
probably damaging |
Het |
| Igsf21 |
T |
A |
4: 139,755,435 (GRCm39) |
N407Y |
probably damaging |
Het |
| Insig2 |
A |
G |
1: 121,234,885 (GRCm39) |
Y174H |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,337,346 (GRCm39) |
M2413K |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,994,857 (GRCm39) |
I1322N |
probably damaging |
Het |
| Klk1b24 |
T |
A |
7: 43,840,890 (GRCm39) |
M106K |
possibly damaging |
Het |
| Krt81 |
G |
T |
15: 101,358,198 (GRCm39) |
Q352K |
probably benign |
Het |
| Lca5l |
A |
T |
16: 95,961,059 (GRCm39) |
S468T |
possibly damaging |
Het |
| Lvrn |
T |
C |
18: 47,015,452 (GRCm39) |
|
probably benign |
Het |
| Mcpt1 |
T |
A |
14: 56,256,621 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
C |
5: 118,876,524 (GRCm39) |
M900T |
probably benign |
Het |
| Med16 |
A |
G |
10: 79,743,312 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mep1a |
T |
C |
17: 43,802,563 (GRCm39) |
H154R |
probably damaging |
Het |
| Mrc2 |
A |
T |
11: 105,228,598 (GRCm39) |
D659V |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,063,224 (GRCm39) |
E799V |
probably damaging |
Het |
| Mrpl21 |
A |
G |
19: 3,334,808 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,694,808 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
C |
A |
10: 127,555,806 (GRCm39) |
Q932K |
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,555,905 (GRCm39) |
S1675R |
probably damaging |
Het |
| Neurl2 |
A |
G |
2: 164,674,666 (GRCm39) |
V232A |
possibly damaging |
Het |
| Nfatc1 |
T |
A |
18: 80,708,482 (GRCm39) |
|
probably benign |
Het |
| Or2w4 |
C |
T |
13: 21,795,992 (GRCm39) |
C49Y |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,645,039 (GRCm39) |
E11V |
probably null |
Het |
| P4hb |
A |
G |
11: 120,453,381 (GRCm39) |
|
probably benign |
Het |
| Papss1 |
T |
G |
3: 131,311,615 (GRCm39) |
I281S |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,183,540 (GRCm39) |
D832V |
probably damaging |
Het |
| Pfkfb2 |
A |
T |
1: 130,635,927 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Phaf1 |
T |
C |
8: 105,973,188 (GRCm39) |
|
probably null |
Het |
| Phf20l1 |
T |
A |
15: 66,476,662 (GRCm39) |
F253Y |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,379,511 (GRCm39) |
V1046I |
probably benign |
Het |
| Plin3 |
C |
T |
17: 56,591,337 (GRCm39) |
A148T |
probably benign |
Het |
| Ppp1r8 |
T |
C |
4: 132,567,942 (GRCm39) |
|
probably benign |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,511 (GRCm39) |
L604P |
probably damaging |
Het |
| Prdm5 |
T |
C |
6: 65,860,585 (GRCm39) |
V239A |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,519 (GRCm39) |
S770P |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,365,310 (GRCm39) |
I155N |
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,190,274 (GRCm39) |
|
probably benign |
Het |
| Psg25 |
C |
T |
7: 18,263,512 (GRCm39) |
G104R |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,282,094 (GRCm39) |
V817A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,741,908 (GRCm39) |
Y2091F |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,248 (GRCm39) |
T253A |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,731,594 (GRCm39) |
|
probably null |
Het |
| Spink5 |
C |
A |
18: 44,140,786 (GRCm39) |
H662N |
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,923,311 (GRCm39) |
M322K |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,090,682 (GRCm39) |
F676S |
probably damaging |
Het |
| Tmem177 |
A |
G |
1: 119,837,915 (GRCm39) |
S255P |
possibly damaging |
Het |
| Trim46 |
A |
T |
3: 89,142,375 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
T |
A |
2: 174,292,596 (GRCm39) |
|
probably null |
Het |
| Upf1 |
T |
C |
8: 70,796,904 (GRCm39) |
T110A |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,850 (GRCm39) |
I140L |
probably benign |
Het |
| Zfp780b |
T |
A |
7: 27,664,252 (GRCm39) |
N101I |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,924,144 (GRCm39) |
D467G |
probably benign |
Het |
|
| Other mutations in Zfp638 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Zfp638
|
APN |
6 |
83,956,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00514:Zfp638
|
APN |
6 |
83,933,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00705:Zfp638
|
APN |
6 |
83,954,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00785:Zfp638
|
APN |
6 |
83,906,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01068:Zfp638
|
APN |
6 |
83,911,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Zfp638
|
APN |
6 |
83,921,780 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01570:Zfp638
|
APN |
6 |
83,924,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01758:Zfp638
|
APN |
6 |
83,956,508 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02345:Zfp638
|
APN |
6 |
83,961,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Zfp638
|
APN |
6 |
83,946,214 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03007:Zfp638
|
APN |
6 |
83,961,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03118:Zfp638
|
APN |
6 |
83,912,000 (GRCm39) |
splice site |
probably benign |
|
|
IGL03135:Zfp638
|
APN |
6 |
83,919,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Zfp638
|
APN |
6 |
83,923,229 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0190:Zfp638
|
UTSW |
6 |
83,905,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Zfp638
|
UTSW |
6 |
83,944,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:Zfp638
|
UTSW |
6 |
83,906,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0801:Zfp638
|
UTSW |
6 |
83,949,220 (GRCm39) |
unclassified |
probably benign |
|
|
R0938:Zfp638
|
UTSW |
6 |
83,961,023 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1312:Zfp638
|
UTSW |
6 |
83,906,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Zfp638
|
UTSW |
6 |
83,955,047 (GRCm39) |
splice site |
probably null |
|
|
R1634:Zfp638
|
UTSW |
6 |
83,956,894 (GRCm39) |
splice site |
probably null |
|
|
R1651:Zfp638
|
UTSW |
6 |
83,931,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2079:Zfp638
|
UTSW |
6 |
83,930,371 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2134:Zfp638
|
UTSW |
6 |
83,905,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2142:Zfp638
|
UTSW |
6 |
83,963,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2201:Zfp638
|
UTSW |
6 |
83,906,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Zfp638
|
UTSW |
6 |
83,943,421 (GRCm39) |
splice site |
probably benign |
|
|
R4353:Zfp638
|
UTSW |
6 |
83,961,041 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4681:Zfp638
|
UTSW |
6 |
83,958,719 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4716:Zfp638
|
UTSW |
6 |
83,956,544 (GRCm39) |
nonsense |
probably null |
|
|
R4807:Zfp638
|
UTSW |
6 |
83,920,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4850:Zfp638
|
UTSW |
6 |
83,956,457 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5079:Zfp638
|
UTSW |
6 |
83,906,438 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5236:Zfp638
|
UTSW |
6 |
83,953,557 (GRCm39) |
nonsense |
probably null |
|
|
R5323:Zfp638
|
UTSW |
6 |
83,939,076 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5426:Zfp638
|
UTSW |
6 |
83,953,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Zfp638
|
UTSW |
6 |
83,944,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Zfp638
|
UTSW |
6 |
83,956,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Zfp638
|
UTSW |
6 |
83,906,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Zfp638
|
UTSW |
6 |
83,920,111 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5685:Zfp638
|
UTSW |
6 |
83,906,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Zfp638
|
UTSW |
6 |
83,906,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Zfp638
|
UTSW |
6 |
83,921,829 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5856:Zfp638
|
UTSW |
6 |
83,954,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Zfp638
|
UTSW |
6 |
83,844,212 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6477:Zfp638
|
UTSW |
6 |
83,942,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6557:Zfp638
|
UTSW |
6 |
83,907,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7084:Zfp638
|
UTSW |
6 |
83,930,108 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7101:Zfp638
|
UTSW |
6 |
83,931,708 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7141:Zfp638
|
UTSW |
6 |
83,844,181 (GRCm39) |
missense |
unknown |
|
|
R7368:Zfp638
|
UTSW |
6 |
83,906,437 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7402:Zfp638
|
UTSW |
6 |
83,905,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7455:Zfp638
|
UTSW |
6 |
83,907,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Zfp638
|
UTSW |
6 |
83,953,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Zfp638
|
UTSW |
6 |
83,956,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8090:Zfp638
|
UTSW |
6 |
83,906,801 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8154:Zfp638
|
UTSW |
6 |
83,954,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Zfp638
|
UTSW |
6 |
83,906,713 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8327:Zfp638
|
UTSW |
6 |
83,905,679 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8384:Zfp638
|
UTSW |
6 |
83,956,747 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8703:Zfp638
|
UTSW |
6 |
83,954,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8738:Zfp638
|
UTSW |
6 |
83,931,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8865:Zfp638
|
UTSW |
6 |
83,954,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8874:Zfp638
|
UTSW |
6 |
83,946,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9080:Zfp638
|
UTSW |
6 |
83,844,155 (GRCm39) |
missense |
unknown |
|
|
R9113:Zfp638
|
UTSW |
6 |
83,953,894 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9574:Zfp638
|
UTSW |
6 |
83,956,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9661:Zfp638
|
UTSW |
6 |
83,923,320 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9722:Zfp638
|
UTSW |
6 |
83,923,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Zfp638
|
UTSW |
6 |
83,921,795 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1088:Zfp638
|
UTSW |
6 |
83,921,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCTGCTTACTAAGCCTGAGAATG -3'
(R):5'- TGGGCCAAAGCACTTTTACCAGAC -3'
Sequencing Primer
(F):5'- TACTAAGCCTGAGAATGGCTCTG -3'
(R):5'- GGTAAAGTGTCATCTTCCAGATTCTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation