Incidental Mutation 'R1079:Zfp729a'
ID |
85796 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp729a
|
Ensembl Gene |
ENSMUSG00000021510 |
Gene Name |
zinc finger protein 729a |
Synonyms |
A530054K11Rik |
MMRRC Submission |
039165-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1079 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67767794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 812
(I812V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000012314
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012314]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
AlphaFold |
Q4QQP3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012314
AA Change: I812V
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000012314 Gene: ENSMUSG00000021510 AA Change: I812V
Domain | Start | End | E-Value | Type |
KRAB
|
15 |
75 |
6.23e-34 |
SMART |
ZnF_C2H2
|
91 |
111 |
1.91e1 |
SMART |
ZnF_C2H2
|
147 |
169 |
8.34e-3 |
SMART |
PHD
|
148 |
209 |
9.1e0 |
SMART |
ZnF_C2H2
|
175 |
197 |
3.21e-4 |
SMART |
ZnF_C2H2
|
203 |
225 |
6.78e-3 |
SMART |
ZnF_C2H2
|
231 |
253 |
4.47e-3 |
SMART |
PHD
|
232 |
293 |
1.11e1 |
SMART |
RING
|
233 |
292 |
9.27e0 |
SMART |
ZnF_C2H2
|
259 |
281 |
6.67e-2 |
SMART |
ZnF_C2H2
|
287 |
309 |
1.12e-3 |
SMART |
ZnF_C2H2
|
315 |
337 |
3.83e-2 |
SMART |
PHD
|
316 |
377 |
1.35e1 |
SMART |
ZnF_C2H2
|
343 |
365 |
2.57e-3 |
SMART |
ZnF_C2H2
|
371 |
393 |
1.98e-4 |
SMART |
Pfam:zf-C2HC_2
|
402 |
422 |
7.7e-4 |
PFAM |
ZnF_C2H2
|
427 |
449 |
1.67e-2 |
SMART |
ZnF_C2H2
|
455 |
477 |
1.38e-3 |
SMART |
PHD
|
456 |
517 |
5.33e0 |
SMART |
RING
|
457 |
516 |
9.02e0 |
SMART |
ZnF_C2H2
|
483 |
505 |
3.89e-3 |
SMART |
ZnF_C2H2
|
511 |
533 |
7.49e-5 |
SMART |
ZnF_C2H2
|
539 |
561 |
5.5e-3 |
SMART |
PHD
|
540 |
601 |
1.46e1 |
SMART |
ZnF_C2H2
|
567 |
589 |
3.58e-2 |
SMART |
ZnF_C2H2
|
595 |
617 |
8.34e-3 |
SMART |
ZnF_C2H2
|
651 |
673 |
4.11e-2 |
SMART |
PHD
|
652 |
713 |
4.64e0 |
SMART |
RING
|
653 |
712 |
6.37e0 |
SMART |
ZnF_C2H2
|
679 |
701 |
2.4e-3 |
SMART |
ZnF_C2H2
|
707 |
729 |
1.03e-2 |
SMART |
ZnF_C2H2
|
735 |
757 |
1.47e-3 |
SMART |
PHD
|
736 |
797 |
5.44e0 |
SMART |
RING
|
737 |
796 |
5.88e0 |
SMART |
ZnF_C2H2
|
763 |
785 |
6.67e-2 |
SMART |
ZnF_C2H2
|
791 |
813 |
2.36e-2 |
SMART |
ZnF_C2H2
|
819 |
841 |
6.32e-3 |
SMART |
ZnF_C2H2
|
847 |
869 |
1.26e-2 |
SMART |
ZnF_C2H2
|
875 |
897 |
6.78e-3 |
SMART |
PHD
|
876 |
937 |
4.55e0 |
SMART |
ZnF_C2H2
|
903 |
925 |
9.58e-3 |
SMART |
ZnF_C2H2
|
931 |
953 |
9.08e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224548
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225511
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225608
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
Meta Mutation Damage Score |
0.1466 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002J24Rik |
T |
C |
7: 30,399,209 (GRCm39) |
M1T |
probably null |
Het |
Adam25 |
T |
C |
8: 41,208,513 (GRCm39) |
V593A |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,261,682 (GRCm39) |
C536Y |
probably damaging |
Het |
Amigo3 |
T |
C |
9: 107,931,051 (GRCm39) |
M158T |
probably benign |
Het |
Arsa |
G |
A |
15: 89,358,428 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
A |
12: 54,941,785 (GRCm39) |
I1474L |
possibly damaging |
Het |
Cfap144 |
A |
G |
11: 58,692,620 (GRCm39) |
Y36H |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,944,872 (GRCm39) |
V1455A |
probably damaging |
Het |
Cfap65 |
G |
A |
1: 74,941,606 (GRCm39) |
A1776V |
probably damaging |
Het |
Cnot6 |
G |
T |
11: 49,575,930 (GRCm39) |
D176E |
probably benign |
Het |
Crot |
A |
T |
5: 9,043,504 (GRCm39) |
|
probably null |
Het |
Cryba2 |
A |
T |
1: 74,929,717 (GRCm39) |
V140E |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,178,485 (GRCm39) |
R516K |
probably benign |
Het |
Dst |
C |
A |
1: 34,225,944 (GRCm39) |
T1697N |
possibly damaging |
Het |
Eftud2 |
G |
T |
11: 102,730,870 (GRCm39) |
Y837* |
probably null |
Het |
Evpl |
G |
T |
11: 116,120,894 (GRCm39) |
T447K |
possibly damaging |
Het |
Fndc3a |
A |
T |
14: 72,827,247 (GRCm39) |
M146K |
possibly damaging |
Het |
Folh1 |
G |
T |
7: 86,421,089 (GRCm39) |
T80K |
probably damaging |
Het |
Gm4922 |
T |
A |
10: 18,660,086 (GRCm39) |
Y212F |
probably damaging |
Het |
Gtf2i |
T |
G |
5: 134,271,748 (GRCm39) |
|
probably benign |
Het |
Hipk3 |
A |
G |
2: 104,302,043 (GRCm39) |
F50L |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,885 (GRCm39) |
T244S |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,578,264 (GRCm39) |
D341G |
possibly damaging |
Het |
Kif3a |
G |
C |
11: 53,461,408 (GRCm39) |
V17L |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lzts2 |
T |
A |
19: 45,011,983 (GRCm39) |
N137K |
probably damaging |
Het |
Mphosph8 |
T |
A |
14: 56,911,716 (GRCm39) |
D246E |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,279,426 (GRCm39) |
E918G |
probably damaging |
Het |
N6amt1 |
T |
C |
16: 87,153,086 (GRCm39) |
V52A |
probably damaging |
Het |
Npr2 |
A |
C |
4: 43,643,654 (GRCm39) |
T561P |
probably damaging |
Het |
Nudt12 |
G |
A |
17: 59,318,032 (GRCm39) |
|
probably benign |
Het |
Or10ad1 |
A |
C |
15: 98,106,223 (GRCm39) |
V14G |
probably damaging |
Het |
Or5w8 |
A |
G |
2: 87,687,699 (GRCm39) |
Y60C |
probably damaging |
Het |
Or6n2 |
A |
T |
1: 173,897,032 (GRCm39) |
H56L |
possibly damaging |
Het |
Or8k22 |
T |
A |
2: 86,163,185 (GRCm39) |
R172W |
probably damaging |
Het |
Pan2 |
A |
G |
10: 128,154,107 (GRCm39) |
T1050A |
probably damaging |
Het |
Rad17 |
G |
T |
13: 100,770,407 (GRCm39) |
D213E |
probably benign |
Het |
Sall2 |
T |
A |
14: 52,550,660 (GRCm39) |
H843L |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3e |
A |
T |
5: 14,275,669 (GRCm39) |
N258I |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,921,297 (GRCm39) |
R625* |
probably null |
Het |
Slc15a3 |
T |
C |
19: 10,833,344 (GRCm39) |
S454P |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,516,825 (GRCm39) |
|
probably benign |
Het |
Spatc1l |
T |
C |
10: 76,399,741 (GRCm39) |
S88P |
probably damaging |
Het |
Ssh3 |
A |
C |
19: 4,316,577 (GRCm39) |
L143R |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,587,340 (GRCm39) |
|
probably benign |
Het |
Vps35 |
A |
G |
8: 86,005,683 (GRCm39) |
L306S |
probably damaging |
Het |
|
Other mutations in Zfp729a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00572:Zfp729a
|
APN |
13 |
67,767,440 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01956:Zfp729a
|
APN |
13 |
67,769,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02852:Zfp729a
|
APN |
13 |
67,768,070 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03130:Zfp729a
|
APN |
13 |
67,767,761 (GRCm39) |
splice site |
probably null |
|
adalet
|
UTSW |
13 |
67,767,626 (GRCm39) |
missense |
probably benign |
0.00 |
R0329:Zfp729a
|
UTSW |
13 |
67,768,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Zfp729a
|
UTSW |
13 |
67,768,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Zfp729a
|
UTSW |
13 |
67,769,792 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0545:Zfp729a
|
UTSW |
13 |
67,768,345 (GRCm39) |
missense |
probably benign |
0.09 |
R1013:Zfp729a
|
UTSW |
13 |
67,767,626 (GRCm39) |
missense |
probably benign |
0.00 |
R1255:Zfp729a
|
UTSW |
13 |
67,769,965 (GRCm39) |
missense |
probably benign |
0.03 |
R1525:Zfp729a
|
UTSW |
13 |
67,767,440 (GRCm39) |
missense |
probably benign |
0.01 |
R1768:Zfp729a
|
UTSW |
13 |
67,767,370 (GRCm39) |
missense |
probably benign |
0.00 |
R1926:Zfp729a
|
UTSW |
13 |
67,767,676 (GRCm39) |
missense |
probably benign |
0.29 |
R2043:Zfp729a
|
UTSW |
13 |
67,769,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Zfp729a
|
UTSW |
13 |
67,769,613 (GRCm39) |
splice site |
probably null |
|
R3820:Zfp729a
|
UTSW |
13 |
67,769,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R3830:Zfp729a
|
UTSW |
13 |
67,767,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R3926:Zfp729a
|
UTSW |
13 |
67,768,310 (GRCm39) |
nonsense |
probably null |
|
R4134:Zfp729a
|
UTSW |
13 |
67,767,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4135:Zfp729a
|
UTSW |
13 |
67,767,925 (GRCm39) |
missense |
probably damaging |
1.00 |
R4670:Zfp729a
|
UTSW |
13 |
67,769,534 (GRCm39) |
nonsense |
probably null |
|
R4793:Zfp729a
|
UTSW |
13 |
67,768,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R5009:Zfp729a
|
UTSW |
13 |
67,768,365 (GRCm39) |
missense |
probably benign |
0.01 |
R5125:Zfp729a
|
UTSW |
13 |
67,785,764 (GRCm39) |
critical splice donor site |
probably null |
|
R5178:Zfp729a
|
UTSW |
13 |
67,785,764 (GRCm39) |
critical splice donor site |
probably null |
|
R5438:Zfp729a
|
UTSW |
13 |
67,767,705 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6540:Zfp729a
|
UTSW |
13 |
67,767,767 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6731:Zfp729a
|
UTSW |
13 |
67,768,265 (GRCm39) |
missense |
probably benign |
0.09 |
R6987:Zfp729a
|
UTSW |
13 |
67,768,058 (GRCm39) |
nonsense |
probably null |
|
R7001:Zfp729a
|
UTSW |
13 |
67,768,468 (GRCm39) |
missense |
probably benign |
0.31 |
R7626:Zfp729a
|
UTSW |
13 |
67,768,437 (GRCm39) |
nonsense |
probably null |
|
R7706:Zfp729a
|
UTSW |
13 |
67,771,612 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7855:Zfp729a
|
UTSW |
13 |
67,768,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7864:Zfp729a
|
UTSW |
13 |
67,769,569 (GRCm39) |
missense |
probably benign |
0.34 |
R7916:Zfp729a
|
UTSW |
13 |
67,768,294 (GRCm39) |
missense |
probably benign |
0.20 |
R8061:Zfp729a
|
UTSW |
13 |
67,768,208 (GRCm39) |
missense |
probably benign |
|
R8187:Zfp729a
|
UTSW |
13 |
67,769,918 (GRCm39) |
nonsense |
probably null |
|
R8191:Zfp729a
|
UTSW |
13 |
67,769,838 (GRCm39) |
missense |
probably benign |
0.01 |
R8275:Zfp729a
|
UTSW |
13 |
67,768,223 (GRCm39) |
missense |
probably benign |
0.08 |
R8469:Zfp729a
|
UTSW |
13 |
67,769,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R8733:Zfp729a
|
UTSW |
13 |
67,769,104 (GRCm39) |
missense |
probably damaging |
0.96 |
R8911:Zfp729a
|
UTSW |
13 |
67,768,061 (GRCm39) |
missense |
probably benign |
0.25 |
R9211:Zfp729a
|
UTSW |
13 |
67,767,820 (GRCm39) |
missense |
probably benign |
0.05 |
R9355:Zfp729a
|
UTSW |
13 |
67,767,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R9505:Zfp729a
|
UTSW |
13 |
67,767,673 (GRCm39) |
missense |
probably damaging |
0.97 |
R9786:Zfp729a
|
UTSW |
13 |
67,768,628 (GRCm39) |
missense |
possibly damaging |
0.83 |
X0010:Zfp729a
|
UTSW |
13 |
67,769,901 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Zfp729a
|
UTSW |
13 |
67,768,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
|
Posted On |
2013-11-18 |