Incidental Mutation 'R8822:Zfp644'
| ID |
673105 |
| 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 |
068655-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R8822 (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 106783087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 1065
(R1065S)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000045466
AA Change: R1065S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: R1065S
| 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: R1096S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: R1096S
| 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: R1065S
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: R1065S
| 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
|
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb1 |
T |
C |
19: 56,711,849 (GRCm39) |
V349A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,629,772 (GRCm39) |
V99A |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,809,640 (GRCm39) |
D418V |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,692 (GRCm39) |
V331A |
probably benign |
Het |
| Cd28 |
A |
T |
1: 60,808,820 (GRCm39) |
N178I |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,843,706 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,803,378 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,875,003 (GRCm39) |
A494V |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,201,262 (GRCm39) |
I13T |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,514,471 (GRCm39) |
V493A |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,842 (GRCm39) |
M254L |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,648,184 (GRCm39) |
I1250N |
probably damaging |
Het |
| Gm6685 |
T |
G |
11: 28,289,768 (GRCm39) |
Q16P |
probably benign |
Het |
| Gpr26 |
A |
G |
7: 131,568,997 (GRCm39) |
Y114C |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,389 (GRCm39) |
V433D |
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,057,391 (GRCm39) |
W930R |
probably benign |
Het |
| Igdcc4 |
C |
T |
9: 65,031,298 (GRCm39) |
T412I |
possibly damaging |
Het |
| Klhl35 |
T |
C |
7: 99,122,055 (GRCm39) |
V485A |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,121,610 (GRCm39) |
D225G |
probably damaging |
Het |
| Myo15a |
C |
T |
11: 60,367,740 (GRCm39) |
R167C |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,188 (GRCm39) |
D29V |
probably damaging |
Het |
| Or10d3 |
C |
A |
9: 39,461,812 (GRCm39) |
M118I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,926 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5d47 |
A |
G |
2: 87,804,785 (GRCm39) |
S75P |
possibly damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,700 (GRCm39) |
Y6C |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,551,328 (GRCm39) |
E204G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,806,312 (GRCm39) |
I2054K |
|
Het |
| Pkp1 |
T |
A |
1: 135,807,661 (GRCm39) |
M536L |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,658 (GRCm39) |
E68G |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,127,431 (GRCm39) |
D1892G |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,057,092 (GRCm39) |
K92E |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,699,763 (GRCm39) |
L76P |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,002,588 (GRCm39) |
N1559K |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,833,346 (GRCm39) |
N750I |
possibly damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,691,613 (GRCm39) |
S221P |
probably damaging |
Het |
| S100a4 |
T |
C |
3: 90,512,358 (GRCm39) |
S14P |
probably benign |
Het |
| Samd11 |
A |
T |
4: 156,336,764 (GRCm39) |
L25Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,761,615 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,370,979 (GRCm39) |
S534P |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,507,702 (GRCm39) |
V781F |
probably benign |
Het |
| Setd1a |
C |
T |
7: 127,385,332 (GRCm39) |
L680F |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,149 (GRCm39) |
Q265P |
probably damaging |
Het |
| Slc27a1 |
T |
A |
8: 72,033,308 (GRCm39) |
D283E |
probably damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,906,952 (GRCm39) |
T262M |
probably benign |
Het |
| Slc52a3 |
T |
G |
2: 151,846,513 (GRCm39) |
V158G |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,484,125 (GRCm39) |
V64A |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,900 (GRCm39) |
W887R |
probably damaging |
Het |
| Tcap |
G |
A |
11: 98,275,264 (GRCm39) |
V133M |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,578,444 (GRCm39) |
L217P |
probably damaging |
Het |
| Tnfrsf12a |
T |
C |
17: 23,895,188 (GRCm39) |
S87G |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,330 (GRCm39) |
R77C |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,269,410 (GRCm39) |
V2107M |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,544,920 (GRCm39) |
S118P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zfp263 |
G |
T |
16: 3,562,004 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,723,831 (GRCm39) |
T1945A |
probably benign |
Het |
| Zfp668 |
A |
T |
7: 127,466,315 (GRCm39) |
S290T |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,869 (GRCm39) |
D699E |
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 |
|
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'- AAGAGACTGGTTCTTTCTCCCAC -3'
(R):5'- CGAACATACTTGTCAGCTCTGTG -3'
Sequencing Primer
(F):5'- CACTGGGCAGTTCAGGCTTTC -3'
(R):5'- GGTGGTTGGTTTGACACAAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation