Incidental Mutation 'R5416:Zfp644'
| ID |
501040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp644
|
| Ensembl Gene |
ENSMUSG00000049606 |
| Gene Name |
zinc finger protein 644 |
| Synonyms |
BM-005, Zep-2, D5Ertd689e, 1110068L01Rik |
| MMRRC Submission |
042985-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R5416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 106766294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
|
| AlphaFold |
E9QA22 |
| Predicted Effect |
silent
Transcript: ENSMUST00000045466
|
| SMART Domains |
Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
411 |
433 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
526 |
549 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
3.72e0 |
SMART |
|
low complexity region
|
668 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
788 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
928 |
950 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
1003 |
1025 |
1.43e-1 |
SMART |
|
low complexity region
|
1199 |
1212 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1226 |
1252 |
5.4e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000112694
|
| SMART Domains |
Protein: ENSMUSP00000108314
Gene: ENSMUSG00000049606
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
20 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
34 |
60 |
1e-14 |
BLAST |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000112695
|
| SMART Domains |
Protein: ENSMUSP00000108315
Gene: ENSMUSG00000049606
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
25 |
N/A |
INTRINSIC |
|
Blast:ZnF_C2H2
|
39 |
65 |
2e-14 |
BLAST |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000112696
|
| SMART Domains |
Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
411 |
433 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
526 |
549 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
3.72e0 |
SMART |
|
low complexity region
|
668 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
819 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
959 |
981 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
1034 |
1056 |
1.43e-1 |
SMART |
|
low complexity region
|
1230 |
1243 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1257 |
1283 |
5.4e1 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000112698
|
| SMART Domains |
Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
411 |
433 |
1.89e-1 |
SMART |
|
ZnF_C2H2
|
449 |
471 |
6.52e-5 |
SMART |
|
ZnF_C2H2
|
497 |
519 |
1.99e0 |
SMART |
|
ZnF_C2H2
|
526 |
549 |
6.4e0 |
SMART |
|
ZnF_C2H2
|
587 |
610 |
3.72e0 |
SMART |
|
low complexity region
|
668 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
788 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
928 |
950 |
1.07e0 |
SMART |
|
ZnF_C2H2
|
1003 |
1025 |
1.43e-1 |
SMART |
|
low complexity region
|
1199 |
1212 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1226 |
1252 |
5.4e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149128
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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 zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,871,331 (GRCm39) |
E689D |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,997 (GRCm39) |
E339G |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,259,308 (GRCm39) |
E861K |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,817,930 (GRCm39) |
T394I |
probably benign |
Het |
| Adsl |
T |
A |
15: 80,836,384 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,551 (GRCm39) |
C1854S |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,442,832 (GRCm39) |
Y458C |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,341,525 (GRCm39) |
D1161G |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,809 (GRCm39) |
Y90C |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,100 (GRCm39) |
R510G |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,141,211 (GRCm39) |
T115A |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,367,741 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,020,786 (GRCm39) |
R386* |
probably null |
Het |
| Ctsj |
G |
T |
13: 61,152,337 (GRCm39) |
L10M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,517 (GRCm39) |
D302G |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,243,131 (GRCm39) |
F166L |
possibly damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,805 (GRCm39) |
M248K |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,125,085 (GRCm39) |
V126L |
probably benign |
Het |
| Fam83d |
T |
C |
2: 158,627,552 (GRCm39) |
C414R |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,514 (GRCm39) |
N1175S |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,646,113 (GRCm39) |
T283I |
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,650,291 (GRCm39) |
T121A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,925,079 (GRCm39) |
S175T |
unknown |
Het |
| Gpr107 |
T |
A |
2: 31,075,560 (GRCm39) |
I357N |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,149,030 (GRCm39) |
H466Q |
probably benign |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,466 (GRCm39) |
F327L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Itgb7 |
A |
T |
15: 102,125,744 (GRCm39) |
D628E |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,322 (GRCm39) |
D236G |
possibly damaging |
Het |
| Or56b2j |
C |
T |
7: 104,352,923 (GRCm39) |
L50F |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,534,166 (GRCm39) |
Y260F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,008 (GRCm39) |
Y562C |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,182,107 (GRCm39) |
H376R |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,673,416 (GRCm39) |
T1018I |
probably damaging |
Het |
| Ppp6r1 |
A |
T |
7: 4,642,747 (GRCm39) |
D532E |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,623,814 (GRCm39) |
L3259P |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,091,326 (GRCm39) |
D641E |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,216,525 (GRCm39) |
T105A |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,742,724 (GRCm39) |
T473A |
probably damaging |
Het |
| Pwp2 |
G |
T |
10: 78,018,835 (GRCm39) |
N57K |
probably damaging |
Het |
| Rnf216 |
G |
T |
5: 143,001,526 (GRCm39) |
C733* |
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,660,203 (GRCm39) |
K26N |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,561,058 (GRCm39) |
C448S |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,724,607 (GRCm39) |
L216M |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,365,433 (GRCm39) |
S117P |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,913,932 (GRCm39) |
C1332* |
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,735 (GRCm39) |
V497A |
probably benign |
Het |
| Tmem204 |
T |
C |
17: 25,277,300 (GRCm39) |
E195G |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,037,849 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
G |
A |
12: 86,059,602 (GRCm39) |
V1250M |
possibly damaging |
Het |
| Ube4a |
G |
A |
9: 44,852,476 (GRCm39) |
T681I |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,879 (GRCm39) |
V404I |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,030,319 (GRCm39) |
S919P |
probably benign |
Het |
| Zfp575 |
C |
T |
7: 24,286,147 (GRCm39) |
G3D |
probably benign |
Het |
|
| Other mutations in Zfp644 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Zfp644
|
APN |
5 |
106,786,503 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01654:Zfp644
|
APN |
5 |
106,783,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01967:Zfp644
|
APN |
5 |
106,786,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02132:Zfp644
|
APN |
5 |
106,783,760 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02164:Zfp644
|
APN |
5 |
106,785,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02303:Zfp644
|
APN |
5 |
106,785,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Zfp644
|
APN |
5 |
106,784,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Zfp644
|
APN |
5 |
106,785,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03298:Zfp644
|
APN |
5 |
106,782,967 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4466001:Zfp644
|
UTSW |
5 |
106,784,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Zfp644
|
UTSW |
5 |
106,782,909 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0012:Zfp644
|
UTSW |
5 |
106,782,909 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0038:Zfp644
|
UTSW |
5 |
106,782,909 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0038:Zfp644
|
UTSW |
5 |
106,782,909 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0058:Zfp644
|
UTSW |
5 |
106,784,869 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0058:Zfp644
|
UTSW |
5 |
106,784,869 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0178:Zfp644
|
UTSW |
5 |
106,784,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Zfp644
|
UTSW |
5 |
106,786,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1302:Zfp644
|
UTSW |
5 |
106,782,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1337:Zfp644
|
UTSW |
5 |
106,785,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1400:Zfp644
|
UTSW |
5 |
106,785,336 (GRCm39) |
splice site |
probably null |
|
|
R1597:Zfp644
|
UTSW |
5 |
106,786,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1911:Zfp644
|
UTSW |
5 |
106,783,137 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2021:Zfp644
|
UTSW |
5 |
106,783,548 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2196:Zfp644
|
UTSW |
5 |
106,786,469 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R2256:Zfp644
|
UTSW |
5 |
106,783,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2311:Zfp644
|
UTSW |
5 |
106,782,822 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2420:Zfp644
|
UTSW |
5 |
106,785,110 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2421:Zfp644
|
UTSW |
5 |
106,785,110 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2422:Zfp644
|
UTSW |
5 |
106,785,110 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3752:Zfp644
|
UTSW |
5 |
106,784,249 (GRCm39) |
missense |
probably benign |
|
|
R4207:Zfp644
|
UTSW |
5 |
106,766,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4285:Zfp644
|
UTSW |
5 |
106,782,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4874:Zfp644
|
UTSW |
5 |
106,783,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4961:Zfp644
|
UTSW |
5 |
106,766,081 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4984:Zfp644
|
UTSW |
5 |
106,784,783 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5007:Zfp644
|
UTSW |
5 |
106,783,867 (GRCm39) |
missense |
probably benign |
|
|
R5358:Zfp644
|
UTSW |
5 |
106,783,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5382:Zfp644
|
UTSW |
5 |
106,782,735 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5641:Zfp644
|
UTSW |
5 |
106,767,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Zfp644
|
UTSW |
5 |
106,785,848 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5732:Zfp644
|
UTSW |
5 |
106,784,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Zfp644
|
UTSW |
5 |
106,783,291 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6039:Zfp644
|
UTSW |
5 |
106,783,291 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6306:Zfp644
|
UTSW |
5 |
106,785,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6317:Zfp644
|
UTSW |
5 |
106,783,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Zfp644
|
UTSW |
5 |
106,784,619 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6886:Zfp644
|
UTSW |
5 |
106,785,777 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7223:Zfp644
|
UTSW |
5 |
106,785,448 (GRCm39) |
nonsense |
probably null |
|
|
R7326:Zfp644
|
UTSW |
5 |
106,786,143 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7450:Zfp644
|
UTSW |
5 |
106,786,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8095:Zfp644
|
UTSW |
5 |
106,766,280 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8710:Zfp644
|
UTSW |
5 |
106,782,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8822:Zfp644
|
UTSW |
5 |
106,783,087 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8936:Zfp644
|
UTSW |
5 |
106,783,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Zfp644
|
UTSW |
5 |
106,785,467 (GRCm39) |
missense |
probably benign |
|
|
R9056:Zfp644
|
UTSW |
5 |
106,783,944 (GRCm39) |
nonsense |
probably null |
|
|
R9192:Zfp644
|
UTSW |
5 |
106,785,829 (GRCm39) |
missense |
probably benign |
|
|
R9250:Zfp644
|
UTSW |
5 |
106,784,699 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9287:Zfp644
|
UTSW |
5 |
106,785,774 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9313:Zfp644
|
UTSW |
5 |
106,784,324 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9600:Zfp644
|
UTSW |
5 |
106,783,909 (GRCm39) |
missense |
probably benign |
|
|
R9766:Zfp644
|
UTSW |
5 |
106,784,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Zfp644
|
UTSW |
5 |
106,786,131 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0011:Zfp644
|
UTSW |
5 |
106,766,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Zfp644
|
UTSW |
5 |
106,783,610 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
|
| Posted On |
2017-12-01 |
Incidental Mutation