Incidental Mutation 'R6310:Zfp638'
| ID |
509535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp638
|
| Ensembl Gene |
ENSMUSG00000030016 |
| Gene Name |
zinc finger protein 638 |
| Synonyms |
Np220, Zfml |
| MMRRC Submission |
044414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.873)
|
| Stock # |
R6310 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
83844050-83963855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83844212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 25
(D25G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000203273]
[ENSMUST00000204415]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000203273
AA Change: D25G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204415
AA Change: D25G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145513
Gene: ENSMUSG00000030016
AA Change: D25G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
131 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206185
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
G |
11: 100,373,046 (GRCm39) |
G856A |
possibly damaging |
Het |
| Adgrb3 |
T |
A |
1: 25,150,799 (GRCm39) |
M1145L |
probably benign |
Het |
| Akap13 |
A |
T |
7: 75,398,941 (GRCm39) |
H2673L |
probably damaging |
Het |
| Bmpr1b |
A |
G |
3: 141,570,297 (GRCm39) |
S131P |
probably damaging |
Het |
| Cep72 |
A |
C |
13: 74,201,144 (GRCm39) |
S175A |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,912 (GRCm39) |
E1358K |
probably damaging |
Het |
| Cmip |
T |
C |
8: 118,156,549 (GRCm39) |
I308T |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,182,140 (GRCm39) |
N118I |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,304,018 (GRCm39) |
G1265D |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,166 (GRCm39) |
R275L |
probably damaging |
Het |
| Dhx58 |
T |
C |
11: 100,590,193 (GRCm39) |
S364G |
probably benign |
Het |
| Dis3l |
A |
C |
9: 64,229,857 (GRCm39) |
V274G |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,104 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,268,444 (GRCm39) |
H1272R |
probably damaging |
Het |
| Gjb3 |
A |
G |
4: 127,220,433 (GRCm39) |
V33A |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm9964 |
T |
C |
11: 79,187,476 (GRCm39) |
|
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,069,349 (GRCm39) |
I342T |
probably damaging |
Het |
| Hnf1b |
T |
A |
11: 83,795,737 (GRCm39) |
C527S |
probably damaging |
Het |
| Hoxd4 |
G |
T |
2: 74,558,734 (GRCm39) |
A186S |
possibly damaging |
Het |
| Ighv1-78 |
G |
A |
12: 115,832,584 (GRCm39) |
H54Y |
probably benign |
Het |
| Intu |
T |
A |
3: 40,655,721 (GRCm39) |
L936* |
probably null |
Het |
| Kcp |
G |
A |
6: 29,493,257 (GRCm39) |
R89W |
probably damaging |
Het |
| Kctd3 |
T |
C |
1: 188,704,435 (GRCm39) |
T779A |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,553,246 (GRCm39) |
P4349L |
probably benign |
Het |
| Nedd9 |
T |
C |
13: 41,471,928 (GRCm39) |
T178A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,257,699 (GRCm39) |
A204S |
probably damaging |
Het |
| Or51f1 |
T |
A |
7: 102,506,412 (GRCm39) |
I26F |
probably benign |
Het |
| Or6c214 |
T |
C |
10: 129,590,528 (GRCm39) |
R264G |
probably benign |
Het |
| Pcdhac2 |
C |
A |
18: 37,278,824 (GRCm39) |
Y601* |
probably null |
Het |
| Pla2g4a |
T |
A |
1: 149,717,977 (GRCm39) |
D624V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,938,796 (GRCm39) |
V1386A |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,953,697 (GRCm39) |
L623F |
possibly damaging |
Het |
| Pms2 |
T |
A |
5: 143,860,401 (GRCm39) |
S71R |
probably benign |
Het |
| Prkg1 |
T |
C |
19: 30,546,651 (GRCm39) |
D683G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,801,204 (GRCm39) |
Y45N |
probably damaging |
Het |
| Rfc4 |
T |
C |
16: 22,933,459 (GRCm39) |
I233M |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,606,986 (GRCm39) |
G274S |
probably damaging |
Het |
| Sesn1 |
T |
C |
10: 41,772,074 (GRCm39) |
L201P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,066,947 (GRCm39) |
V2363I |
possibly damaging |
Het |
| Sh3glb1 |
A |
G |
3: 144,403,228 (GRCm39) |
S81P |
probably damaging |
Het |
| Sik3 |
A |
G |
9: 46,089,784 (GRCm39) |
S218G |
probably damaging |
Het |
| Slc12a2 |
C |
G |
18: 58,048,578 (GRCm39) |
F781L |
probably damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,166,184 (GRCm39) |
I188F |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,222,139 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
A |
G |
14: 49,559,914 (GRCm39) |
C44R |
probably damaging |
Het |
| Sytl1 |
G |
A |
4: 132,988,309 (GRCm39) |
P16S |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,394,003 (GRCm39) |
T592M |
possibly damaging |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,009 (GRCm39) |
F303L |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,893,760 (GRCm39) |
S7G |
probably benign |
Het |
| Utp4 |
T |
C |
8: 107,645,253 (GRCm39) |
V550A |
probably benign |
Het |
| Vmn1r229 |
G |
A |
17: 21,034,976 (GRCm39) |
D74N |
probably benign |
Het |
| Zfp646 |
T |
C |
7: 127,483,079 (GRCm39) |
V1752A |
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 |
|
R1458:Zfp638
|
UTSW |
6 |
83,921,638 (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 |
|
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'- GCTTTGAGTGACCAGGAGAC -3'
(R):5'- GCCTTTAACTGACACCCAGC -3'
Sequencing Primer
(F):5'- AGATTCCCGCGCTCGTC -3'
(R):5'- TTTAACTGACACCCAGCCACCTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation