Incidental Mutation 'R5358:Zfp644'
ID |
424157 |
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 |
042937-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.263)
|
Stock # |
R5358 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 106783541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1002
(T1002I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000155495]
[ENSMUST00000127434]
[ENSMUST00000135108]
[ENSMUST00000137285]
|
AlphaFold |
E9QA22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045466
AA Change: T971I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038047 Gene: ENSMUSG00000049606 AA Change: T971I
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 damaging
Transcript: ENSMUST00000112696
AA Change: T1002I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108316 Gene: ENSMUSG00000049606 AA Change: T1002I
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 damaging
Transcript: ENSMUST00000112698
AA Change: T971I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000108318 Gene: ENSMUSG00000049606 AA Change: T971I
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135108
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137285
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,849,165 (GRCm39) |
V1842A |
probably damaging |
Het |
Abi3 |
A |
T |
11: 95,732,934 (GRCm39) |
F13L |
probably benign |
Het |
Adgre4 |
A |
G |
17: 56,125,758 (GRCm39) |
K538R |
probably benign |
Het |
Bcas3 |
C |
T |
11: 85,342,581 (GRCm39) |
H191Y |
probably benign |
Het |
Bicdl2 |
A |
G |
17: 23,886,538 (GRCm39) |
T376A |
probably benign |
Het |
Ceacam18 |
C |
A |
7: 43,286,497 (GRCm39) |
N123K |
possibly damaging |
Het |
Celsr3 |
C |
T |
9: 108,709,224 (GRCm39) |
R1357C |
possibly damaging |
Het |
Chek2 |
T |
C |
5: 110,989,148 (GRCm39) |
|
probably benign |
Het |
Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
Chrm2 |
A |
G |
6: 36,500,290 (GRCm39) |
K49R |
probably damaging |
Het |
Ciao2b |
T |
C |
8: 105,368,282 (GRCm39) |
N14S |
probably damaging |
Het |
Daam1 |
T |
A |
12: 71,999,233 (GRCm39) |
L623* |
probably null |
Het |
Ddx31 |
T |
A |
2: 28,753,782 (GRCm39) |
C448S |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,586,331 (GRCm39) |
S1507P |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,965,928 (GRCm39) |
T2420K |
probably damaging |
Het |
Dyrk3 |
C |
T |
1: 131,057,432 (GRCm39) |
R247H |
probably damaging |
Het |
Exoc4 |
A |
G |
6: 33,242,934 (GRCm39) |
E49G |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,476,596 (GRCm39) |
E258G |
probably damaging |
Het |
Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,877,321 (GRCm39) |
E1106K |
probably damaging |
Het |
Hip1 |
G |
T |
5: 135,465,252 (GRCm39) |
S385R |
probably benign |
Het |
Igsf9 |
C |
T |
1: 172,312,078 (GRCm39) |
T8I |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Katnal2 |
A |
G |
18: 77,105,190 (GRCm39) |
Y86H |
possibly damaging |
Het |
Kcnh6 |
A |
T |
11: 105,918,417 (GRCm39) |
I756F |
possibly damaging |
Het |
Kdm5b |
C |
T |
1: 134,535,432 (GRCm39) |
R570* |
probably null |
Het |
Kif16b |
T |
A |
2: 142,582,889 (GRCm39) |
R545S |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,100,030 (GRCm39) |
I1528N |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,730,571 (GRCm39) |
|
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Mknk2 |
T |
C |
10: 80,507,597 (GRCm39) |
T60A |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,248,907 (GRCm39) |
K1466E |
probably damaging |
Het |
Ntsr2 |
A |
C |
12: 16,704,083 (GRCm39) |
T109P |
probably damaging |
Het |
Nup214 |
C |
A |
2: 31,907,158 (GRCm39) |
S995Y |
unknown |
Het |
Or2a5 |
A |
T |
6: 42,873,454 (GRCm39) |
Q23L |
probably benign |
Het |
Pclo |
T |
A |
5: 14,762,750 (GRCm39) |
L456* |
probably null |
Het |
Pde5a |
A |
G |
3: 122,541,825 (GRCm39) |
D105G |
probably damaging |
Het |
Pik3c3 |
C |
A |
18: 30,456,597 (GRCm39) |
P709H |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Rab3c |
T |
C |
13: 110,198,497 (GRCm39) |
N179S |
possibly damaging |
Het |
Setdb2 |
T |
A |
14: 59,646,885 (GRCm39) |
R559S |
probably benign |
Het |
Sf3b1 |
A |
G |
1: 55,042,469 (GRCm39) |
Y474H |
probably benign |
Het |
Slc6a6 |
G |
T |
6: 91,712,155 (GRCm39) |
W228L |
probably benign |
Het |
Slc8a2 |
T |
G |
7: 15,891,228 (GRCm39) |
I750S |
probably damaging |
Het |
Slco2b1 |
T |
A |
7: 99,309,251 (GRCm39) |
I194L |
unknown |
Het |
Smarcd1 |
C |
T |
15: 99,601,128 (GRCm39) |
Q45* |
probably null |
Het |
Srcap |
T |
G |
7: 127,139,492 (GRCm39) |
L1271R |
probably damaging |
Het |
Srsf12 |
A |
T |
4: 33,209,330 (GRCm39) |
N9Y |
probably damaging |
Het |
St7 |
T |
C |
6: 17,819,317 (GRCm39) |
S74P |
probably damaging |
Het |
Stxbp5l |
T |
A |
16: 36,994,688 (GRCm39) |
E739V |
probably damaging |
Het |
Sun3 |
T |
A |
11: 8,981,496 (GRCm39) |
Q36L |
possibly damaging |
Het |
Tbc1d32 |
T |
C |
10: 56,047,033 (GRCm39) |
H545R |
possibly damaging |
Het |
Tcp11 |
A |
T |
17: 28,296,994 (GRCm39) |
C133S |
probably benign |
Het |
Tm6sf2 |
T |
C |
8: 70,526,939 (GRCm39) |
V36A |
possibly damaging |
Het |
Tmem108 |
T |
C |
9: 103,376,717 (GRCm39) |
Y244C |
probably damaging |
Het |
Tra2a |
A |
T |
6: 49,227,949 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
A |
T |
19: 22,903,332 (GRCm39) |
I1031F |
probably damaging |
Het |
Ttll3 |
A |
G |
6: 113,378,292 (GRCm39) |
K381E |
probably benign |
Het |
Uaca |
T |
C |
9: 60,778,430 (GRCm39) |
V937A |
probably benign |
Het |
Umod |
C |
T |
7: 119,071,577 (GRCm39) |
G388D |
probably damaging |
Het |
Vmn2r90 |
G |
A |
17: 17,924,412 (GRCm39) |
|
probably null |
Het |
Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
Zfp738 |
A |
G |
13: 67,819,131 (GRCm39) |
Y287H |
probably damaging |
Het |
Zfyve16 |
T |
C |
13: 92,644,771 (GRCm39) |
T1144A |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,361,352 (GRCm39) |
|
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 |
|
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'- CAGAGCTGACAAGTATGTTCGG -3'
(R):5'- CGCCTTTGTCAAAGCATAGTTC -3'
Sequencing Primer
(F):5'- TCGGAAGTAGTTTCAGACTTCTC -3'
(R):5'- AGCATAGTTCTGTTTTTCATTGGAC -3'
|
Posted On |
2016-08-04 |