Incidental Mutation 'R0038:Zfp644'
ID |
32805 |
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 |
038332-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.263)
|
Stock # |
R0038 (G1)
|
Quality Score |
189 |
Status
|
Validated
(trace)
|
Chromosome |
5 |
Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 106782909 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Alanine
at position 1155
(E1155A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000135108]
[ENSMUST00000137285]
[ENSMUST00000155495]
[ENSMUST00000127434]
|
AlphaFold |
E9QA22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045466
AA Change: E1124A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038047 Gene: ENSMUSG00000049606 AA Change: E1124A
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 |
probably benign
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 |
probably benign
Transcript: ENSMUST00000112696
AA Change: E1155A
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000108316 Gene: ENSMUSG00000049606 AA Change: E1155A
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 |
probably benign
Transcript: ENSMUST00000112698
AA Change: E1124A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108318 Gene: ENSMUSG00000049606 AA Change: E1124A
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 |
probably benign
Transcript: ENSMUST00000122980
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124263
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149128
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135108
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137285
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127434
|
SMART Domains |
Protein: ENSMUSP00000122421 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 |
|
Meta Mutation Damage Score |
0.0808 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (72/72) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agfg1 |
T |
C |
1: 82,863,823 (GRCm39) |
|
probably benign |
Het |
Ankrd28 |
A |
T |
14: 31,429,992 (GRCm39) |
M892K |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,022,734 (GRCm39) |
|
probably benign |
Het |
Arl9 |
G |
A |
5: 77,154,322 (GRCm39) |
E17K |
probably benign |
Het |
Bbs9 |
G |
A |
9: 22,415,390 (GRCm39) |
V105I |
probably benign |
Het |
Celsr1 |
A |
T |
15: 85,813,620 (GRCm39) |
N1997K |
possibly damaging |
Het |
Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
Cldn8 |
A |
G |
16: 88,359,922 (GRCm39) |
M1T |
probably null |
Het |
Clec11a |
A |
G |
7: 43,955,906 (GRCm39) |
|
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Col19a1 |
A |
T |
1: 24,598,825 (GRCm39) |
L56Q |
unknown |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
G |
A |
7: 25,614,287 (GRCm39) |
A254T |
probably benign |
Het |
Ddx39a |
T |
C |
8: 84,449,127 (GRCm39) |
L305P |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,026,197 (GRCm39) |
E60G |
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,171,384 (GRCm39) |
M340L |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,748,385 (GRCm39) |
H39L |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,826,306 (GRCm39) |
T4549A |
probably damaging |
Het |
Fbxw28 |
A |
T |
9: 109,167,608 (GRCm39) |
W50R |
probably damaging |
Het |
Ggt7 |
T |
C |
2: 155,344,701 (GRCm39) |
D214G |
probably benign |
Het |
Gramd1b |
G |
A |
9: 40,228,822 (GRCm39) |
T252M |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,471 (GRCm39) |
N613S |
probably null |
Het |
Hcrtr2 |
A |
T |
9: 76,166,963 (GRCm39) |
S125T |
probably benign |
Het |
Hr |
T |
C |
14: 70,805,525 (GRCm39) |
L1091P |
probably damaging |
Het |
Htr2a |
T |
G |
14: 74,943,687 (GRCm39) |
S422R |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,312,097 (GRCm39) |
S886P |
probably damaging |
Het |
Iqcg |
C |
A |
16: 32,866,012 (GRCm39) |
L110F |
probably benign |
Het |
Kirrel3 |
T |
A |
9: 34,823,066 (GRCm39) |
|
probably null |
Het |
Kremen1 |
A |
C |
11: 5,157,703 (GRCm39) |
|
probably benign |
Het |
Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
Lin52 |
C |
G |
12: 84,576,499 (GRCm39) |
L111V |
probably damaging |
Het |
Myh15 |
T |
C |
16: 48,891,504 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
A |
G |
11: 62,283,377 (GRCm39) |
F437L |
probably damaging |
Het |
Nlrp1b |
A |
G |
11: 71,062,997 (GRCm39) |
S685P |
possibly damaging |
Het |
Oog4 |
T |
C |
4: 143,165,514 (GRCm39) |
D211G |
probably benign |
Het |
Oscar |
A |
G |
7: 3,619,072 (GRCm39) |
V2A |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,288,028 (GRCm39) |
I1124T |
possibly damaging |
Het |
Pgm3 |
A |
T |
9: 86,446,726 (GRCm39) |
|
probably benign |
Het |
Pnpla5 |
A |
G |
15: 84,006,714 (GRCm39) |
Y90H |
probably damaging |
Het |
Polr1b |
C |
T |
2: 128,957,588 (GRCm39) |
R548* |
probably null |
Het |
Ptprg |
T |
A |
14: 12,213,710 (GRCm38) |
M1026K |
probably damaging |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 78,976,703 (GRCm39) |
I1368V |
probably benign |
Het |
Rnf168 |
T |
C |
16: 32,117,813 (GRCm39) |
V458A |
probably benign |
Het |
Rnf32 |
T |
C |
5: 29,410,652 (GRCm39) |
|
probably benign |
Het |
Sclt1 |
T |
C |
3: 41,583,943 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
A |
G |
12: 104,004,216 (GRCm39) |
F139L |
probably damaging |
Het |
Sos2 |
T |
G |
12: 69,643,467 (GRCm39) |
Q971P |
probably damaging |
Het |
Stag3 |
T |
A |
5: 138,299,298 (GRCm39) |
|
probably null |
Het |
Stard5 |
T |
C |
7: 83,285,951 (GRCm39) |
|
probably benign |
Het |
Stard9 |
T |
A |
2: 120,526,313 (GRCm39) |
C857S |
probably benign |
Het |
Suclg1 |
A |
G |
6: 73,237,486 (GRCm39) |
E77G |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,637,388 (GRCm39) |
S204P |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,358,809 (GRCm39) |
G2112C |
probably benign |
Het |
Vmn2r15 |
T |
A |
5: 109,441,010 (GRCm39) |
T283S |
possibly damaging |
Het |
Wdr6 |
A |
T |
9: 108,450,168 (GRCm39) |
V1120D |
probably damaging |
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 |
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 |
R5416:Zfp644
|
UTSW |
5 |
106,766,294 (GRCm39) |
splice site |
silent |
|
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 |
PCR Primer
(F):5'- GAAGATGCTCAGAAGGCACTCCAC -3'
(R):5'- CAGAAACTCTCCTCAGGCGATGAC -3'
Sequencing Primer
(F):5'- ACAAGTGTCCTTACCTGAGTG -3'
(R):5'- GCGATGACTTCCTATCTCACAATG -3'
|
Posted On |
2013-05-09 |