Incidental Mutation 'R8975:Zfp644'
ID |
683371 |
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 |
068809-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.263)
|
Stock # |
R8975 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 106785467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 360
(T360N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000127434]
[ENSMUST00000135108]
[ENSMUST00000137285]
[ENSMUST00000155495]
|
AlphaFold |
E9QA22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045466
AA Change: T360N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038047 Gene: ENSMUSG00000049606 AA Change: T360N
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: T360N
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000108316 Gene: ENSMUSG00000049606 AA Change: T360N
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: T360N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000108318 Gene: ENSMUSG00000049606 AA Change: T360N
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 |
probably benign
Transcript: ENSMUST00000127434
AA Change: T360N
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000122421 Gene: ENSMUSG00000049606 AA Change: T360N
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (64/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,980,192 (GRCm39) |
D47G |
probably damaging |
Het |
4930550C14Rik |
A |
T |
9: 53,334,258 (GRCm39) |
K167M |
possibly damaging |
Het |
Abhd16b |
A |
G |
2: 181,135,806 (GRCm39) |
N236S |
probably benign |
Het |
Ahnak |
T |
G |
19: 8,990,101 (GRCm39) |
V3795G |
probably damaging |
Het |
Atg2b |
A |
T |
12: 105,602,725 (GRCm39) |
M1606K |
probably damaging |
Het |
Bmt2 |
A |
T |
6: 13,630,611 (GRCm39) |
I187K |
probably damaging |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Cep290 |
A |
G |
10: 100,349,782 (GRCm39) |
N610D |
possibly damaging |
Het |
Ctps1 |
C |
T |
4: 120,406,743 (GRCm39) |
D338N |
probably benign |
Het |
Ctsz |
A |
T |
2: 174,275,421 (GRCm39) |
I118N |
probably benign |
Het |
Depdc1b |
A |
G |
13: 108,525,094 (GRCm39) |
E483G |
probably null |
Het |
Dhh |
T |
C |
15: 98,795,976 (GRCm39) |
S60G |
probably damaging |
Het |
Dpagt1 |
T |
C |
9: 44,237,446 (GRCm39) |
|
probably benign |
Het |
Dpy19l1 |
T |
C |
9: 24,359,102 (GRCm39) |
K162R |
probably damaging |
Het |
Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
Dyrk4 |
T |
C |
6: 126,871,783 (GRCm39) |
N162D |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,954,415 (GRCm39) |
K5090E |
probably benign |
Het |
Eml5 |
T |
A |
12: 98,776,829 (GRCm39) |
T1429S |
probably damaging |
Het |
Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
Fer1l5 |
A |
G |
1: 36,456,897 (GRCm39) |
D1625G |
probably benign |
Het |
Frmd4b |
G |
A |
6: 97,283,477 (GRCm39) |
T484M |
possibly damaging |
Het |
Hhat |
T |
C |
1: 192,431,250 (GRCm39) |
E33G |
probably damaging |
Het |
Ifngr1 |
A |
G |
10: 19,485,360 (GRCm39) |
D453G |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,335,628 (GRCm39) |
I2246N |
possibly damaging |
Het |
Larp4b |
T |
G |
13: 9,195,537 (GRCm39) |
I212S |
probably damaging |
Het |
Lilra5 |
T |
C |
7: 4,241,636 (GRCm39) |
V145A |
probably benign |
Het |
Map1lc3a |
A |
G |
2: 155,118,926 (GRCm39) |
K30R |
possibly damaging |
Het |
Mapk8ip1 |
A |
G |
2: 92,215,166 (GRCm39) |
Y652H |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,780,334 (GRCm39) |
E994G |
probably benign |
Het |
Mep1b |
A |
T |
18: 21,208,714 (GRCm39) |
D30V |
probably benign |
Het |
Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,300,129 (GRCm39) |
D1635G |
probably benign |
Het |
Msantd5f6 |
A |
G |
4: 73,320,167 (GRCm39) |
L204P |
probably damaging |
Het |
Mup3 |
A |
T |
4: 62,003,472 (GRCm39) |
D132E |
probably benign |
Het |
Myo15b |
A |
T |
11: 115,781,780 (GRCm39) |
T2830S |
unknown |
Het |
Myocd |
T |
A |
11: 65,069,287 (GRCm39) |
H979L |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,958,001 (GRCm39) |
N260K |
probably benign |
Het |
Or2a57 |
T |
A |
6: 43,213,056 (GRCm39) |
H171Q |
probably benign |
Het |
Or2d2b |
T |
A |
7: 106,705,664 (GRCm39) |
T135S |
probably benign |
Het |
Or4d2 |
T |
A |
11: 87,784,645 (GRCm39) |
Y35F |
probably damaging |
Het |
Pdha2 |
C |
A |
3: 140,917,649 (GRCm39) |
|
probably benign |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Phtf2 |
A |
C |
5: 20,969,249 (GRCm39) |
V687G |
probably damaging |
Het |
Plagl2 |
C |
T |
2: 153,074,346 (GRCm39) |
G185D |
possibly damaging |
Het |
Ppp1r3e |
A |
G |
14: 55,113,946 (GRCm39) |
V242A |
probably benign |
Het |
Proser3 |
A |
G |
7: 30,239,458 (GRCm39) |
S549P |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,533,630 (GRCm39) |
V995A |
unknown |
Het |
Ptpn13 |
A |
G |
5: 103,649,266 (GRCm39) |
H223R |
probably benign |
Het |
Rsf1 |
CG |
CGTCGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scn11a |
T |
C |
9: 119,587,565 (GRCm39) |
E1393G |
probably damaging |
Het |
Sipa1l1 |
T |
A |
12: 82,479,612 (GRCm39) |
S1432T |
possibly damaging |
Het |
Slc10a5 |
G |
C |
3: 10,399,670 (GRCm39) |
A330G |
probably benign |
Het |
Slc2a5 |
A |
C |
4: 150,224,270 (GRCm39) |
N293H |
probably damaging |
Het |
Spmap1 |
A |
T |
11: 97,663,572 (GRCm39) |
Y93N |
probably damaging |
Het |
Spmip4 |
C |
T |
6: 50,561,391 (GRCm39) |
R176H |
probably damaging |
Het |
Sptbn1 |
T |
C |
11: 30,073,869 (GRCm39) |
E1400G |
possibly damaging |
Het |
Stk33 |
T |
A |
7: 108,935,280 (GRCm39) |
I171F |
probably damaging |
Het |
Syne1 |
G |
A |
10: 5,161,945 (GRCm39) |
H5450Y |
probably benign |
Het |
Tbcd |
G |
C |
11: 121,387,679 (GRCm39) |
|
probably benign |
Het |
Tkt |
T |
A |
14: 30,288,884 (GRCm39) |
|
probably benign |
Het |
Tpra1 |
A |
T |
6: 88,888,726 (GRCm39) |
M303L |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,752,651 (GRCm39) |
S303P |
probably damaging |
Het |
Uqcrc1 |
T |
C |
9: 108,776,721 (GRCm39) |
F341S |
probably damaging |
Het |
Vmn1r223 |
T |
C |
13: 23,434,248 (GRCm39) |
S281P |
possibly damaging |
Het |
Vmn1r32 |
C |
A |
6: 66,530,189 (GRCm39) |
A196S |
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 |
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 |
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'- ATCATATGCCTGTGGAGATGC -3'
(R):5'- TGAGCAAGATCACTCGCTAC -3'
Sequencing Primer
(F):5'- CCCTAAAATTCACATTGCACTTTG -3'
(R):5'- CTACACAGAGGACTGCTACAGTG -3'
|
Posted On |
2021-10-11 |