Incidental Mutation 'R9766:Zfp644'
ID |
733266 |
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 # |
R9766 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
106764605-106844696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 106784691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Cysteine
at position 619
(G619C)
|
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: G619C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038047 Gene: ENSMUSG00000049606 AA Change: G619C
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: G619C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000108316 Gene: ENSMUSG00000049606 AA Change: G619C
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: G619C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108318 Gene: ENSMUSG00000049606 AA Change: G619C
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 damaging
Transcript: ENSMUST00000127434
AA Change: G619C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122421 Gene: ENSMUSG00000049606 AA Change: G619C
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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,385,788 (GRCm39) |
V59A |
probably benign |
Het |
Aatk |
A |
T |
11: 119,902,565 (GRCm39) |
H610Q |
probably benign |
Het |
Acox1 |
G |
A |
11: 116,071,867 (GRCm39) |
A187V |
probably damaging |
Het |
Acsbg3 |
A |
G |
17: 57,189,177 (GRCm39) |
Y195C |
probably benign |
Het |
AI661453 |
C |
T |
17: 47,757,570 (GRCm39) |
R76W |
probably damaging |
Het |
Anapc1 |
C |
T |
2: 128,500,221 (GRCm39) |
R808Q |
probably damaging |
Het |
Ankrd26 |
T |
C |
6: 118,500,067 (GRCm39) |
T1135A |
possibly damaging |
Het |
Arhgap17 |
A |
G |
7: 122,921,148 (GRCm39) |
V113A |
probably benign |
Het |
Art3 |
T |
C |
5: 92,562,138 (GRCm39) |
C379R |
unknown |
Het |
Bltp3a |
T |
C |
17: 28,105,799 (GRCm39) |
L775P |
probably damaging |
Het |
Bmp5 |
A |
G |
9: 75,800,982 (GRCm39) |
I371V |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,833,096 (GRCm39) |
E281V |
probably damaging |
Het |
Ces1e |
A |
T |
8: 93,946,031 (GRCm39) |
Y171N |
probably damaging |
Het |
Cib3 |
A |
T |
8: 72,961,034 (GRCm39) |
F68I |
possibly damaging |
Het |
Crtac1 |
A |
T |
19: 42,402,557 (GRCm39) |
L17Q |
possibly damaging |
Het |
Crybg3 |
A |
T |
16: 59,376,207 (GRCm39) |
S1682R |
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,465,312 (GRCm39) |
G1323D |
probably damaging |
Het |
Dock3 |
A |
C |
9: 106,788,483 (GRCm39) |
D161E |
probably benign |
Het |
Dpep3 |
A |
C |
8: 106,705,369 (GRCm39) |
L127R |
probably damaging |
Het |
Dus2 |
A |
G |
8: 106,772,568 (GRCm39) |
D226G |
probably damaging |
Het |
Ebna1bp2 |
T |
C |
4: 118,480,821 (GRCm39) |
V184A |
possibly damaging |
Het |
Edem1 |
T |
A |
6: 108,823,648 (GRCm39) |
I348N |
probably damaging |
Het |
Efcab8 |
A |
T |
2: 153,656,362 (GRCm39) |
M599L |
unknown |
Het |
Eif2ak4 |
A |
T |
2: 118,261,313 (GRCm39) |
K618* |
probably null |
Het |
Fbxw27 |
T |
C |
9: 109,602,215 (GRCm39) |
K253E |
possibly damaging |
Het |
Fgf5 |
A |
G |
5: 98,423,113 (GRCm39) |
E166G |
possibly damaging |
Het |
Flot1 |
G |
T |
17: 36,141,555 (GRCm39) |
E321* |
probably null |
Het |
Gm14443 |
T |
C |
2: 175,012,248 (GRCm39) |
E66G |
probably benign |
Het |
Gprc6a |
G |
A |
10: 51,491,884 (GRCm39) |
P622S |
probably damaging |
Het |
Gsta2 |
A |
T |
9: 78,244,876 (GRCm39) |
Y79* |
probably null |
Het |
Hecw2 |
A |
G |
1: 53,904,287 (GRCm39) |
S1154P |
probably damaging |
Het |
Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
Kcnd2 |
T |
C |
6: 21,216,367 (GRCm39) |
S24P |
probably benign |
Het |
Knl1 |
A |
G |
2: 118,900,381 (GRCm39) |
D694G |
probably damaging |
Het |
L1td1 |
T |
C |
4: 98,624,753 (GRCm39) |
I316T |
probably benign |
Het |
Lrsam1 |
G |
T |
2: 32,818,077 (GRCm39) |
Q660K |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,548,153 (GRCm39) |
T6047S |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,552,383 (GRCm39) |
T4637S |
probably benign |
Het |
Myo5a |
T |
C |
9: 75,078,914 (GRCm39) |
Y891H |
probably damaging |
Het |
Nkd2 |
G |
T |
13: 73,995,131 (GRCm39) |
D22E |
possibly damaging |
Het |
Patl2 |
A |
T |
2: 121,954,212 (GRCm39) |
V453E |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,488,313 (GRCm39) |
Y1744H |
probably damaging |
Het |
Phf8-ps |
T |
G |
17: 33,285,647 (GRCm39) |
N385T |
probably damaging |
Het |
Pira2 |
T |
A |
7: 3,845,517 (GRCm39) |
H289L |
possibly damaging |
Het |
Pitpnm1 |
T |
C |
19: 4,158,117 (GRCm39) |
I569T |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,562,735 (GRCm39) |
V568A |
probably benign |
Het |
Ptf1a |
G |
A |
2: 19,451,062 (GRCm39) |
G131S |
probably benign |
Het |
Rasgrf2 |
G |
T |
13: 92,160,188 (GRCm39) |
H396N |
probably damaging |
Het |
Rfx1 |
C |
T |
8: 84,814,376 (GRCm39) |
T315M |
probably damaging |
Het |
Rnf207 |
C |
A |
4: 152,400,402 (GRCm39) |
R148L |
probably damaging |
Het |
Scn11a |
T |
G |
9: 119,584,181 (GRCm39) |
N1478T |
probably damaging |
Het |
Sdr39u1 |
C |
T |
14: 56,135,194 (GRCm39) |
V250I |
probably benign |
Het |
Serinc3 |
T |
C |
2: 163,471,095 (GRCm39) |
T276A |
probably damaging |
Het |
Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
Stambp |
C |
A |
6: 83,534,469 (GRCm39) |
A273S |
probably benign |
Het |
Taf2 |
T |
C |
15: 54,910,881 (GRCm39) |
|
probably null |
Het |
Tex26 |
A |
T |
5: 149,386,642 (GRCm39) |
Y232F |
probably damaging |
Het |
Tmem258 |
T |
C |
19: 10,184,578 (GRCm39) |
L55P |
probably damaging |
Het |
Trappc8 |
A |
G |
18: 20,979,630 (GRCm39) |
I755T |
possibly damaging |
Het |
Ubr4 |
T |
C |
4: 139,194,595 (GRCm39) |
Y1163H |
unknown |
Het |
Usp14 |
G |
A |
18: 10,005,630 (GRCm39) |
T254I |
probably benign |
Het |
Vcan |
A |
G |
13: 89,839,247 (GRCm39) |
L2099P |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,042,866 (GRCm39) |
V1962I |
possibly damaging |
Het |
Zfp407 |
T |
C |
18: 84,577,574 (GRCm39) |
T1180A |
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 |
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 |
|
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'- ATTGGGCAATGCTTTTCCGG -3'
(R):5'- AGCAGTGAAGTGTCCTGTTG -3'
Sequencing Primer
(F):5'- CTATGTGGCCGCTTATGAAATTTTG -3'
(R):5'- CCTGTTGTGAGTTCAGAAGTAACTC -3'
|
Posted On |
2022-11-14 |