Incidental Mutation 'R9192:Zfp644'
| ID |
697737 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R9192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 106785829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 239
(S239R)
|
| 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: S239R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: S239R
| 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: S239R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: S239R
| 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: S239R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: S239R
| 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: S239R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: S239R
| 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
AA Change: S239R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155495
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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 |
|---|
| Akap13 |
T |
A |
7: 75,354,249 (GRCm39) |
M71K |
probably benign |
Het |
| Angptl4 |
C |
T |
17: 34,000,285 (GRCm39) |
A28T |
probably benign |
Het |
| Baz1b |
T |
G |
5: 135,239,648 (GRCm39) |
N249K |
possibly damaging |
Het |
| BC035947 |
A |
T |
1: 78,475,877 (GRCm39) |
Y218* |
probably null |
Het |
| Ctbp1 |
T |
C |
5: 33,408,333 (GRCm39) |
I211V |
probably benign |
Het |
| Dars1 |
T |
C |
1: 128,299,889 (GRCm39) |
E365G |
probably benign |
Het |
| E2f7 |
G |
T |
10: 110,599,851 (GRCm39) |
R202L |
probably damaging |
Het |
| Fscb |
A |
C |
12: 64,520,890 (GRCm39) |
I192S |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,844 (GRCm39) |
I4526V |
probably benign |
Het |
| Gucy2e |
A |
T |
11: 69,127,303 (GRCm39) |
F57I |
probably damaging |
Het |
| Hcar2 |
A |
T |
5: 124,003,354 (GRCm39) |
C50S |
possibly damaging |
Het |
| Herc1 |
G |
A |
9: 66,321,413 (GRCm39) |
V1267I |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,227,142 (GRCm39) |
D845E |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,070,679 (GRCm39) |
T473S |
probably benign |
Het |
| Klhdc10 |
T |
A |
6: 30,449,499 (GRCm39) |
I327N |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,854,442 (GRCm39) |
L235P |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 27,204,181 (GRCm39) |
E486K |
possibly damaging |
Het |
| Lhx6 |
A |
T |
2: 35,981,145 (GRCm39) |
W266R |
probably benign |
Het |
| Mettl15 |
A |
T |
2: 109,104,810 (GRCm39) |
L65* |
probably null |
Het |
| Mocos |
A |
G |
18: 24,812,594 (GRCm39) |
Q496R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,203,847 (GRCm39) |
S285G |
probably damaging |
Het |
| Nos3 |
A |
G |
5: 24,582,611 (GRCm39) |
N613S |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,138,386 (GRCm39) |
R10Q |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,352,430 (GRCm39) |
L55P |
probably damaging |
Het |
| Or4x13 |
C |
A |
2: 90,231,716 (GRCm39) |
T237N |
probably damaging |
Het |
| Or51i2 |
A |
T |
7: 103,689,875 (GRCm39) |
I291F |
possibly damaging |
Het |
| Osbpl10 |
T |
C |
9: 114,996,294 (GRCm39) |
C119R |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,274 (GRCm39) |
V144A |
probably benign |
Het |
| Ovca2 |
A |
G |
11: 75,068,862 (GRCm39) |
V179A |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,140,527 (GRCm39) |
T719A |
probably benign |
Het |
| Pcdhga1 |
A |
G |
18: 37,973,084 (GRCm39) |
N900D |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,163 (GRCm39) |
Q73L |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,204 (GRCm39) |
K835E |
unknown |
Het |
| Psmd2 |
T |
A |
16: 20,473,412 (GRCm39) |
Y158N |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,243,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Rhoq |
A |
T |
17: 87,304,405 (GRCm39) |
I179F |
|
Het |
| Rnf26rt |
T |
C |
6: 76,473,566 (GRCm39) |
D350G |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,404,381 (GRCm39) |
I257M |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,124 (GRCm39) |
A268V |
probably benign |
Het |
| Serinc4 |
G |
A |
2: 121,287,250 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,429,807 (GRCm39) |
M605K |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,594,389 (GRCm39) |
I197M |
probably benign |
Het |
| Slc6a7 |
A |
G |
18: 61,133,649 (GRCm39) |
Y516H |
probably damaging |
Het |
| Spag16 |
A |
G |
1: 69,963,007 (GRCm39) |
T385A |
unknown |
Het |
| Stat6 |
G |
A |
10: 127,493,479 (GRCm39) |
R600H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,786,344 (GRCm39) |
V40A |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,224,755 (GRCm39) |
I185L |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,156,703 (GRCm39) |
L2115H |
probably damaging |
Het |
| Tas2r121 |
T |
C |
6: 132,677,492 (GRCm39) |
E160G |
probably benign |
Het |
| Tle1 |
G |
T |
4: 72,036,753 (GRCm39) |
T727K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,764 (GRCm39) |
D61E |
probably benign |
Het |
| Tnrc18 |
C |
A |
5: 142,773,602 (GRCm39) |
R409L |
|
Het |
| Tnrc6a |
C |
A |
7: 122,789,176 (GRCm39) |
P1665Q |
probably damaging |
Het |
| Tns2 |
C |
A |
15: 102,021,416 (GRCm39) |
P1027Q |
probably damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,745,255 (GRCm39) |
S5265P |
possibly damaging |
Het |
| Tuba1c |
T |
A |
15: 98,935,737 (GRCm39) |
Y399* |
probably null |
Het |
| Vav2 |
A |
T |
2: 27,172,394 (GRCm39) |
I504N |
probably damaging |
Het |
| Vmn2r5 |
G |
T |
3: 64,398,938 (GRCm39) |
C680* |
probably null |
Het |
| Zfp954 |
C |
T |
7: 7,118,933 (GRCm39) |
G204S |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,769,588 (GRCm39) |
T1265I |
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 |
|
|
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'- GTCACTGTAGCAGTCCTCTGTG -3'
(R):5'- GCAAGTCAACACCAAGTTCTG -3'
Sequencing Primer
(F):5'- GCGAGTGATCTTGCTCACATC -3'
(R):5'- TTGTTATCAGATGTAGCACATGC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation