Incidental Mutation 'R9505:Zfp729a'
| ID |
717795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729a
|
| Ensembl Gene |
ENSMUSG00000021510 |
| Gene Name |
zinc finger protein 729a |
| Synonyms |
A530054K11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R9505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67767673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 852
(C852Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012314]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
| AlphaFold |
Q4QQP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012314
AA Change: C852Y
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: C852Y
| 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 |
probably benign
Transcript: ENSMUST00000224814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,185,782 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
C |
7: 66,774,683 (GRCm39) |
N961T |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,855,751 (GRCm39) |
T373I |
probably damaging |
Het |
| Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
| Bicd1 |
A |
C |
6: 149,385,522 (GRCm39) |
E85A |
probably benign |
Het |
| Brca1 |
G |
T |
11: 101,403,592 (GRCm39) |
H1437N |
probably benign |
Het |
| Camk2n1 |
T |
C |
4: 138,182,567 (GRCm39) |
I24T |
possibly damaging |
Het |
| Ces2f |
T |
A |
8: 105,676,669 (GRCm39) |
M121K |
probably benign |
Het |
| Cfap299 |
A |
G |
5: 98,477,213 (GRCm39) |
M1V |
probably null |
Het |
| CN725425 |
T |
A |
15: 91,124,867 (GRCm39) |
Y136N |
possibly damaging |
Het |
| Ctla2a |
T |
A |
13: 61,084,342 (GRCm39) |
M2L |
unknown |
Het |
| Cyp3a57 |
A |
T |
5: 145,286,139 (GRCm39) |
Y25F |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,697,297 (GRCm39) |
V87M |
possibly damaging |
Het |
| Dnah3 |
A |
T |
7: 119,644,912 (GRCm39) |
I1123N |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,841,909 (GRCm39) |
K615* |
probably null |
Het |
| Fkbp10 |
G |
T |
11: 100,306,826 (GRCm39) |
E73* |
probably null |
Het |
| Flnb |
C |
A |
14: 7,904,665 (GRCm38) |
H1023N |
probably benign |
Het |
| Gapvd1 |
T |
A |
2: 34,613,026 (GRCm39) |
Q312H |
|
Het |
| Garre1 |
A |
T |
7: 33,984,371 (GRCm39) |
L84Q |
probably damaging |
Het |
| Htr1d |
A |
T |
4: 136,170,889 (GRCm39) |
I373F |
probably benign |
Het |
| Inhba |
G |
A |
13: 16,201,356 (GRCm39) |
R306H |
probably damaging |
Het |
| Inka1 |
T |
A |
9: 107,862,092 (GRCm39) |
K75* |
probably null |
Het |
| Iqcg |
A |
T |
16: 32,861,247 (GRCm39) |
D156E |
probably benign |
Het |
| Ireb2 |
C |
A |
9: 54,813,921 (GRCm39) |
T798K |
probably damaging |
Het |
| Klk1b8 |
G |
A |
7: 43,451,605 (GRCm39) |
A199T |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,775 (GRCm39) |
T182A |
probably benign |
Het |
| Ltbp2 |
C |
A |
12: 84,900,638 (GRCm39) |
R228L |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,509,090 (GRCm39) |
K22E |
possibly damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,897 (GRCm39) |
D967G |
probably benign |
Het |
| Nr6a1 |
C |
T |
2: 38,630,485 (GRCm39) |
R259Q |
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,687,929 (GRCm39) |
N20D |
probably benign |
Het |
| Or51aa5 |
T |
C |
7: 103,167,446 (GRCm39) |
I48M |
probably benign |
Het |
| Or51i1 |
C |
A |
7: 103,670,698 (GRCm39) |
V276F |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,812 (GRCm39) |
I92N |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,664 (GRCm39) |
I348K |
possibly damaging |
Het |
| Phf2 |
C |
T |
13: 48,957,134 (GRCm39) |
A1078T |
probably damaging |
Het |
| Rnf103 |
T |
C |
6: 71,487,049 (GRCm39) |
V560A |
probably benign |
Het |
| Slc27a4 |
A |
G |
2: 29,701,608 (GRCm39) |
I409V |
probably benign |
Het |
| Spata18 |
T |
A |
5: 73,809,017 (GRCm39) |
|
probably null |
Het |
| Spon1 |
A |
G |
7: 113,632,311 (GRCm39) |
T545A |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,877,722 (GRCm39) |
S772P |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,645,304 (GRCm39) |
S719T |
probably benign |
Het |
| Syne1 |
A |
G |
10: 4,980,394 (GRCm39) |
V864A |
probably benign |
Het |
| Syngap1 |
A |
G |
17: 27,180,579 (GRCm39) |
S836G |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,439,577 (GRCm39) |
E298* |
probably null |
Het |
| Tmem52 |
A |
G |
4: 155,554,615 (GRCm39) |
T114A |
probably damaging |
Het |
| Trim36 |
C |
A |
18: 46,329,281 (GRCm39) |
C53F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,720,811 (GRCm39) |
K6871R |
unknown |
Het |
| Ttn |
C |
A |
2: 76,715,468 (GRCm39) |
|
probably null |
Het |
| Ube2d1 |
T |
C |
10: 71,098,094 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,838,824 (GRCm39) |
T676A |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,878,838 (GRCm39) |
D1029E |
unknown |
Het |
| Vps13a |
A |
T |
19: 16,719,908 (GRCm39) |
Y417N |
possibly 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 |
|
R1079:Zfp729a
|
UTSW |
13 |
67,767,794 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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 |
|
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 |
PCR Primer
(F):5'- ATGCTTGGAAAGTCGTGAGG -3'
(R):5'- GCAAGGCCTTCCATTATGC -3'
Sequencing Primer
(F):5'- ACACACTTCACACTTGTAGGG -3'
(R):5'- AAGGCCTTCCATTATGCATCATTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation