Incidental Mutation 'R6317:Zfp644'
| ID |
510024 |
| 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 |
044417-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R6317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106783711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 945
(H945Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045466]
[ENSMUST00000112695]
[ENSMUST00000112696]
[ENSMUST00000112698]
[ENSMUST00000122980]
[ENSMUST00000124263]
[ENSMUST00000127434]
[ENSMUST00000137285]
[ENSMUST00000135108]
[ENSMUST00000155495]
|
| AlphaFold |
E9QA22 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045466
AA Change: H914Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: H914Q
| 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: H945Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: H945Q
| 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: H914Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: H914Q
| 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: 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: ENSMUST00000137285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
| Meta Mutation Damage Score |
0.0802 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
C |
18: 70,601,264 (GRCm39) |
N206S |
probably damaging |
Het |
| Abcf2 |
A |
T |
5: 24,774,156 (GRCm39) |
Y315* |
probably null |
Het |
| Adck1 |
T |
G |
12: 88,368,921 (GRCm39) |
V133G |
probably damaging |
Het |
| Aoc2 |
T |
C |
11: 101,216,292 (GRCm39) |
F125S |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,713,410 (GRCm39) |
D319G |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 55,001,585 (GRCm39) |
Q145R |
possibly damaging |
Het |
| Bhlhe22 |
A |
G |
3: 18,109,778 (GRCm39) |
E276G |
probably damaging |
Het |
| Cdo1 |
C |
A |
18: 46,861,104 (GRCm39) |
V36L |
probably benign |
Het |
| Ces1h |
A |
G |
8: 94,084,046 (GRCm39) |
F388S |
unknown |
Het |
| Col6a5 |
T |
A |
9: 105,766,266 (GRCm39) |
N1885Y |
probably damaging |
Het |
| Corin |
A |
T |
5: 72,496,388 (GRCm39) |
C522S |
probably damaging |
Het |
| Csmd1 |
G |
T |
8: 16,760,658 (GRCm39) |
T159K |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,504,802 (GRCm39) |
L1977H |
probably benign |
Het |
| Cwc27 |
T |
A |
13: 104,940,769 (GRCm39) |
K197* |
probably null |
Het |
| Cyp20a1 |
T |
C |
1: 60,391,283 (GRCm39) |
S26P |
probably damaging |
Het |
| Daxx |
T |
A |
17: 34,130,949 (GRCm39) |
D321E |
probably damaging |
Het |
| Gria2 |
A |
C |
3: 80,648,311 (GRCm39) |
Y142D |
possibly damaging |
Het |
| Gspt1 |
T |
C |
16: 11,041,072 (GRCm39) |
|
probably null |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,265 (GRCm39) |
V17D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,178,425 (GRCm39) |
L675* |
probably null |
Het |
| Kif13a |
C |
T |
13: 46,980,233 (GRCm39) |
R173Q |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,336,086 (GRCm39) |
I91T |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,348,979 (GRCm39) |
|
probably null |
Het |
| Mcemp1 |
G |
A |
8: 3,717,284 (GRCm39) |
W101* |
probably null |
Het |
| Naca |
T |
C |
10: 127,879,993 (GRCm39) |
I1675T |
probably benign |
Het |
| Nol9 |
T |
C |
4: 152,125,514 (GRCm39) |
F155S |
probably damaging |
Het |
| Obscn |
C |
A |
11: 58,960,721 (GRCm39) |
D3406Y |
probably damaging |
Het |
| Obsl1 |
A |
G |
1: 75,466,273 (GRCm39) |
V1485A |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,760,119 (GRCm39) |
|
probably null |
Het |
| Or8a1 |
T |
C |
9: 37,641,725 (GRCm39) |
K185E |
possibly damaging |
Het |
| Otog |
C |
A |
7: 45,950,639 (GRCm39) |
P337H |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,898,242 (GRCm39) |
L140P |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Pex11g |
G |
T |
8: 3,514,092 (GRCm39) |
D23E |
probably damaging |
Het |
| Phactr2 |
A |
T |
10: 13,137,626 (GRCm39) |
M172K |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,512,974 (GRCm39) |
W91* |
probably null |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Podn |
A |
G |
4: 107,884,357 (GRCm39) |
F44S |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,527,205 (GRCm39) |
D87G |
possibly damaging |
Het |
| Prmt2 |
T |
A |
10: 76,058,351 (GRCm39) |
I153F |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,273,229 (GRCm39) |
V258A |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,655,521 (GRCm39) |
A482E |
probably damaging |
Het |
| Qrich1 |
A |
T |
9: 108,411,491 (GRCm39) |
N339Y |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,432,659 (GRCm39) |
V750D |
possibly damaging |
Het |
| Reg3d |
G |
A |
6: 78,354,428 (GRCm39) |
P58S |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,112,212 (GRCm39) |
L1213P |
unknown |
Het |
| Sema6b |
A |
G |
17: 56,431,047 (GRCm39) |
L872S |
probably benign |
Het |
| Serpinb7 |
T |
C |
1: 107,379,436 (GRCm39) |
I281T |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,838,821 (GRCm39) |
V685A |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,284,980 (GRCm39) |
I323V |
possibly damaging |
Het |
| Slc7a6 |
A |
T |
8: 106,919,099 (GRCm39) |
I228F |
probably damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,821,512 (GRCm39) |
T300A |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,068,653 (GRCm39) |
N2151S |
probably damaging |
Het |
| Sult2a1 |
T |
A |
7: 13,569,945 (GRCm39) |
I96L |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,966,070 (GRCm39) |
D528G |
probably benign |
Het |
| Ubl7 |
T |
C |
9: 57,818,456 (GRCm39) |
|
probably null |
Het |
| Vcan |
T |
A |
13: 89,839,716 (GRCm39) |
I983L |
probably benign |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,742 (GRCm39) |
L209P |
probably damaging |
Het |
| Vmn1r181 |
G |
A |
7: 23,684,183 (GRCm39) |
R216Q |
probably benign |
Het |
| Vmn1r3 |
T |
C |
4: 3,184,993 (GRCm39) |
S105G |
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 |
|
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'- AACTCGTTTCACAGGCGTCC -3'
(R):5'- CCTGTTTAAAAGCAAGATAGAGGGC -3'
Sequencing Primer
(F):5'- GAAGTGCTGCATCTTGTCAC -3'
(R):5'- CAAGATAGAGGGCCAGGGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation