Incidental Mutation 'R0178:Zfp644'
| ID |
23759 |
| 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 |
038446-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R0178 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106784771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 592
(C592Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000127434]
[ENSMUST00000135108]
[ENSMUST00000155495]
[ENSMUST00000137285]
|
| AlphaFold |
E9QA22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045466
AA Change: C592Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: C592Y
| 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: C592Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: C592Y
| 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: C592Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: C592Y
| 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 |
possibly damaging
Transcript: ENSMUST00000127434
AA Change: C592Y
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: C592Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000149128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137285
|
| Meta Mutation Damage Score |
0.9413 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 88.8%
|
| Validation Efficiency |
95% (69/73) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
G |
14: 35,533,435 (GRCm39) |
N111T |
probably benign |
Het |
| Abca1 |
T |
C |
4: 53,081,953 (GRCm39) |
D769G |
possibly damaging |
Het |
| Adcy6 |
G |
T |
15: 98,502,096 (GRCm39) |
Q173K |
probably benign |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,097,706 (GRCm39) |
A141V |
probably benign |
Het |
| Asb2 |
G |
A |
12: 103,291,811 (GRCm39) |
P324L |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,732,188 (GRCm39) |
S342P |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,354,309 (GRCm39) |
T202I |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,782,098 (GRCm39) |
L214P |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 104,902,776 (GRCm39) |
D489V |
possibly damaging |
Het |
| Cers5 |
C |
A |
15: 99,644,905 (GRCm39) |
|
probably benign |
Het |
| Chct1 |
A |
G |
11: 85,069,264 (GRCm39) |
H94R |
probably benign |
Het |
| Chrnb3 |
T |
A |
8: 27,883,392 (GRCm39) |
V111D |
probably damaging |
Het |
| Clec2m |
T |
C |
6: 129,303,786 (GRCm39) |
R60G |
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cyp2r1 |
T |
C |
7: 114,149,643 (GRCm39) |
E248G |
probably damaging |
Het |
| Dnaaf11 |
A |
C |
15: 66,325,950 (GRCm39) |
D208E |
probably benign |
Het |
| Dnmt3b |
A |
G |
2: 153,516,938 (GRCm39) |
T536A |
probably benign |
Het |
| Eef2 |
G |
A |
10: 81,016,126 (GRCm39) |
V496M |
possibly damaging |
Het |
| Fam118a |
T |
C |
15: 84,930,081 (GRCm39) |
|
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,509,763 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
A |
C |
4: 141,682,651 (GRCm39) |
F497V |
probably benign |
Het |
| Gbe1 |
G |
A |
16: 70,275,274 (GRCm39) |
G358D |
probably damaging |
Het |
| Gdf10 |
A |
G |
14: 33,646,058 (GRCm39) |
D69G |
probably damaging |
Het |
| Ggt6 |
A |
G |
11: 72,327,644 (GRCm39) |
H150R |
possibly damaging |
Het |
| Gm45713 |
A |
T |
7: 44,783,882 (GRCm39) |
L110Q |
probably damaging |
Het |
| Gm9847 |
T |
C |
12: 14,544,649 (GRCm39) |
|
noncoding transcript |
Het |
| Grwd1 |
T |
C |
7: 45,480,054 (GRCm39) |
E51G |
probably damaging |
Het |
| Gvin3 |
A |
T |
7: 106,201,028 (GRCm39) |
Y739N |
probably damaging |
Het |
| H13 |
A |
G |
2: 152,522,987 (GRCm39) |
Y100C |
probably damaging |
Het |
| Kcne1 |
A |
C |
16: 92,145,697 (GRCm39) |
M49R |
probably damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,888,886 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,565 (GRCm39) |
I150M |
probably damaging |
Het |
| Ldb2 |
A |
T |
5: 44,630,841 (GRCm39) |
V300E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,919 (GRCm39) |
C3606S |
probably damaging |
Het |
| Lrrc42 |
A |
G |
4: 107,104,917 (GRCm39) |
I16T |
probably damaging |
Het |
| Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
| Myot |
T |
C |
18: 44,470,053 (GRCm39) |
F10S |
probably damaging |
Het |
| Nrg3 |
A |
T |
14: 38,098,413 (GRCm39) |
H480Q |
probably damaging |
Het |
| Or52b2 |
G |
A |
7: 104,986,129 (GRCm39) |
R265C |
probably benign |
Het |
| Or5ac23 |
A |
T |
16: 59,149,783 (GRCm39) |
F30I |
probably damaging |
Het |
| Prl2c5 |
A |
T |
13: 13,366,390 (GRCm39) |
D220V |
probably damaging |
Het |
| Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,613,172 (GRCm39) |
I376T |
probably damaging |
Het |
| Sh2d2a |
A |
T |
3: 87,756,730 (GRCm39) |
T192S |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,037,106 (GRCm39) |
Y417H |
possibly damaging |
Het |
| Slc6a1 |
T |
G |
6: 114,281,813 (GRCm39) |
I32S |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,540 (GRCm39) |
T150A |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,665,791 (GRCm39) |
C1183* |
probably null |
Het |
| Tmprss7 |
C |
A |
16: 45,511,206 (GRCm39) |
W57C |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,911,440 (GRCm39) |
V36E |
possibly damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,242,630 (GRCm39) |
|
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 |
|
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'- CACCAGATTGGGCAATGCTTTTCC -3'
(R):5'- AGTGTAACTTCATGGCAGTGACGG -3'
Sequencing Primer
(F):5'- GAGCTTGATCCAAATGTCCG -3'
(R):5'- TCATGGCAGTGACGGAGAATG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation