Incidental Mutation 'R9250:Zfp644'
| ID |
701475 |
| 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 |
068989-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R9250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 106784699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 616
(D616A)
|
| 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 damaging
Transcript: ENSMUST00000045466
AA Change: D616A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: D616A
| 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 |
possibly damaging
Transcript: ENSMUST00000112696
AA Change: D616A
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: D616A
| 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: D616A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: D616A
| 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 |
possibly damaging
Transcript: ENSMUST00000127434
AA Change: D616A
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: D616A
| 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: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
G |
3: 137,772,389 (GRCm39) |
A526G |
probably damaging |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,442,011 (GRCm39) |
I80K |
probably benign |
Het |
| Ablim3 |
A |
G |
18: 61,944,501 (GRCm39) |
L526P |
probably damaging |
Het |
| Aknad1 |
T |
C |
3: 108,664,143 (GRCm39) |
S369P |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,258,259 (GRCm39) |
S119P |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,054,788 (GRCm39) |
I1110T |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,101,398 (GRCm39) |
S419P |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Crim1 |
C |
T |
17: 78,677,471 (GRCm39) |
H891Y |
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,638,919 (GRCm39) |
E269G |
probably benign |
Het |
| Ddt |
T |
C |
10: 75,609,063 (GRCm39) |
D32G |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,240,543 (GRCm39) |
D236G |
probably benign |
Het |
| Edem1 |
C |
A |
6: 108,805,850 (GRCm39) |
D50E |
probably benign |
Het |
| Exoc5 |
A |
T |
14: 49,256,915 (GRCm39) |
N490K |
probably damaging |
Het |
| Fam117a |
C |
A |
11: 95,228,071 (GRCm39) |
D60E |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,845,330 (GRCm39) |
S305P |
unknown |
Het |
| Fbxw21 |
A |
G |
9: 108,972,846 (GRCm39) |
F363L |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,167,422 (GRCm39) |
C224R |
probably damaging |
Het |
| Gad1 |
T |
A |
2: 70,409,543 (GRCm39) |
N211K |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,038,932 (GRCm39) |
T906A |
possibly damaging |
Het |
| Igkv3-5 |
T |
C |
6: 70,640,758 (GRCm39) |
S80P |
probably benign |
Het |
| Igkv4-90 |
C |
A |
6: 68,784,331 (GRCm39) |
G62* |
probably null |
Het |
| Il31ra |
A |
T |
13: 112,669,508 (GRCm39) |
Y386N |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,928,909 (GRCm39) |
H1159N |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,759,683 (GRCm39) |
S722F |
possibly damaging |
Het |
| Mipep |
T |
C |
14: 61,028,358 (GRCm39) |
Y157H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,461,169 (GRCm39) |
E293G |
probably damaging |
Het |
| Mmp7 |
A |
T |
9: 7,697,885 (GRCm39) |
|
probably benign |
Het |
| Mr1 |
A |
G |
1: 155,013,325 (GRCm39) |
L84P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,168,913 (GRCm39) |
V1874A |
possibly damaging |
Het |
| Nefm |
T |
C |
14: 68,358,570 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,465,151 (GRCm39) |
M80T |
probably damaging |
Het |
| Nubp2 |
A |
G |
17: 25,103,373 (GRCm39) |
|
probably null |
Het |
| Or10ab4 |
C |
T |
7: 107,655,014 (GRCm39) |
T275M |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,278 (GRCm39) |
I41T |
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,718 (GRCm39) |
C240* |
probably null |
Het |
| Ovch2 |
C |
A |
7: 107,392,542 (GRCm39) |
R267L |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,447,687 (GRCm39) |
E741G |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,576,289 (GRCm39) |
T324S |
probably benign |
Het |
| Pxk |
T |
A |
14: 8,144,123 (GRCm38) |
H290Q |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,237,219 (GRCm39) |
T5N |
unknown |
Het |
| Rp9 |
G |
A |
9: 22,365,086 (GRCm39) |
Q124* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
A |
G |
17: 45,125,459 (GRCm39) |
L19P |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,424,764 (GRCm39) |
P473L |
unknown |
Het |
| Slc9a2 |
C |
T |
1: 40,806,987 (GRCm39) |
T758I |
probably benign |
Het |
| Spef1l |
C |
A |
7: 139,556,395 (GRCm39) |
K197N |
probably benign |
Het |
| Tas2r105 |
T |
G |
6: 131,663,951 (GRCm39) |
H159P |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,633,954 (GRCm39) |
M12K |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,667,320 (GRCm39) |
Y614C |
probably benign |
Het |
| Trpv4 |
T |
C |
5: 114,764,941 (GRCm39) |
Y691C |
probably damaging |
Het |
| Unc93a |
A |
G |
17: 13,334,488 (GRCm39) |
V337A |
probably benign |
Het |
| Usp17le |
T |
G |
7: 104,418,839 (GRCm39) |
Q101P |
probably damaging |
Het |
| Usp3 |
A |
T |
9: 66,449,793 (GRCm39) |
|
probably null |
Het |
| Zfp445 |
T |
C |
9: 122,681,092 (GRCm39) |
S950G |
possibly damaging |
Het |
| Zfp759 |
T |
G |
13: 67,288,461 (GRCm39) |
C671G |
probably damaging |
Het |
| Zgrf1 |
G |
T |
3: 127,379,797 (GRCm39) |
C1111F |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,148,732 (GRCm39) |
S349T |
probably damaging |
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 |
|
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 |
|
|
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'- TGACTGTGAGCTTGATCCAAATG -3'
(R):5'- ATGAGCTGGAATGCCATAGG -3'
Sequencing Primer
(F):5'- GAGCTTGATCCAAATGTCCGTTTAGC -3'
(R):5'- CCTGTTGTGAGTTCAGAAGTAACTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation