Incidental Mutation 'R6039:Zfp644'
ID |
479353 |
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 |
043259-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.263)
|
Stock # |
R6039 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106783291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 997
(S997P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000135108]
[ENSMUST00000137285]
[ENSMUST00000155495]
[ENSMUST00000127434]
|
AlphaFold |
E9QA22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045466
AA Change: S997P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038047 Gene: ENSMUSG00000049606 AA Change: S997P
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: S1028P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108316 Gene: ENSMUSG00000049606 AA Change: S1028P
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 |
possibly damaging
Transcript: ENSMUST00000112698
AA Change: S997P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000108318 Gene: ENSMUSG00000049606 AA Change: S997P
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: ENSMUST00000149128
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125895
|
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 98.9%
- 10x: 92.2%
- 20x: 71.8%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
C |
T |
6: 92,885,527 (GRCm39) |
R416Q |
possibly damaging |
Het |
Adgre1 |
C |
A |
17: 57,713,859 (GRCm39) |
D181E |
probably benign |
Het |
Arhgap24 |
T |
C |
5: 103,028,652 (GRCm39) |
S183P |
probably damaging |
Het |
Asb1 |
T |
C |
1: 91,474,748 (GRCm39) |
L90P |
probably damaging |
Het |
Bmp3 |
T |
C |
5: 99,020,209 (GRCm39) |
F211L |
probably benign |
Het |
C8a |
A |
G |
4: 104,703,139 (GRCm39) |
I306T |
probably benign |
Het |
Cdkn3 |
G |
A |
14: 47,007,373 (GRCm39) |
G177R |
probably damaging |
Het |
Chat |
A |
G |
14: 32,170,984 (GRCm39) |
S172P |
probably damaging |
Het |
Chd5 |
CAAGAAGAAGAAGAAGAA |
CAAGAAGAAGAAGAA |
4: 152,438,078 (GRCm39) |
|
probably benign |
Het |
Cyp4a12a |
T |
C |
4: 115,184,420 (GRCm39) |
I265T |
probably damaging |
Het |
Dlst |
T |
A |
12: 85,165,664 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
A |
T |
9: 20,837,716 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,205,800 (GRCm39) |
E1066K |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fstl1 |
T |
A |
16: 37,641,538 (GRCm39) |
S105T |
probably benign |
Het |
Gm19410 |
C |
G |
8: 36,276,518 (GRCm39) |
A1725G |
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,215 (GRCm39) |
N119S |
probably damaging |
Het |
Il20 |
T |
A |
1: 130,838,478 (GRCm39) |
D73V |
possibly damaging |
Het |
Insrr |
T |
C |
3: 87,716,608 (GRCm39) |
I612T |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,359,105 (GRCm39) |
Y1107C |
probably benign |
Het |
Klhl32 |
A |
G |
4: 24,792,615 (GRCm39) |
|
probably null |
Het |
Krt77 |
C |
A |
15: 101,769,351 (GRCm39) |
R470L |
possibly damaging |
Het |
Muc1 |
T |
C |
3: 89,139,336 (GRCm39) |
Y579H |
probably damaging |
Het |
Myof |
T |
C |
19: 37,966,132 (GRCm39) |
D396G |
probably damaging |
Het |
Myom1 |
T |
G |
17: 71,417,746 (GRCm39) |
D1316E |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,912,538 (GRCm39) |
E1083G |
probably benign |
Het |
Nek9 |
G |
A |
12: 85,359,859 (GRCm39) |
A531V |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,290,002 (GRCm39) |
I170N |
possibly damaging |
Het |
Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
Paqr4 |
T |
C |
17: 23,958,968 (GRCm39) |
D11G |
probably damaging |
Het |
Parp8 |
A |
G |
13: 117,014,134 (GRCm39) |
S561P |
probably damaging |
Het |
Pcgf5 |
T |
A |
19: 36,420,306 (GRCm39) |
F179L |
probably damaging |
Het |
Pde4d |
A |
T |
13: 110,084,876 (GRCm39) |
Q422L |
probably damaging |
Het |
Pigs |
T |
A |
11: 78,232,651 (GRCm39) |
V495E |
probably damaging |
Het |
Polh |
C |
T |
17: 46,498,959 (GRCm39) |
R252H |
probably benign |
Het |
Psg28 |
T |
C |
7: 18,160,107 (GRCm39) |
D363G |
possibly damaging |
Het |
Ptgir |
A |
T |
7: 16,640,815 (GRCm39) |
I36F |
possibly damaging |
Het |
Ptprr |
G |
A |
10: 116,072,668 (GRCm39) |
|
probably null |
Het |
Rax |
C |
T |
18: 66,068,418 (GRCm39) |
G229D |
unknown |
Het |
Secisbp2l |
T |
A |
2: 125,615,136 (GRCm39) |
H163L |
probably benign |
Het |
Sf3a2 |
A |
G |
10: 80,637,297 (GRCm39) |
Y45C |
probably damaging |
Het |
Sgo2a |
C |
T |
1: 58,055,775 (GRCm39) |
T653I |
possibly damaging |
Het |
Slc38a9 |
A |
T |
13: 112,806,231 (GRCm39) |
I26F |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,722,436 (GRCm39) |
I90V |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,803,911 (GRCm39) |
H968Y |
possibly damaging |
Het |
Stam2 |
T |
C |
2: 52,599,611 (GRCm39) |
T233A |
probably benign |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Trav4-2 |
G |
A |
14: 53,655,866 (GRCm39) |
V8M |
possibly damaging |
Het |
Ttll5 |
T |
A |
12: 85,878,729 (GRCm39) |
H45Q |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,714,762 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
A |
1: 188,051,217 (GRCm39) |
F234L |
possibly damaging |
Het |
Vmn2r74 |
T |
A |
7: 85,607,526 (GRCm39) |
|
probably null |
Het |
Wdr6 |
CTG |
C |
9: 108,450,994 (GRCm39) |
|
probably null |
Het |
Zfp853 |
G |
A |
5: 143,274,529 (GRCm39) |
Q364* |
probably null |
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 |
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 |
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 |
2017-06-26 |