Incidental Mutation 'R7706:Zfp729a'
| ID |
594294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729a
|
| Ensembl Gene |
ENSMUSG00000021510 |
| Gene Name |
zinc finger protein 729a |
| Synonyms |
A530054K11Rik |
| MMRRC Submission |
045767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 67771612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 78
(R78S)
|
| 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: R78S
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: R78S
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
G |
A |
17: 46,044,583 (GRCm39) |
T46I |
unknown |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,719 (GRCm39) |
D109G |
probably damaging |
Het |
| B4galnt3 |
C |
A |
6: 120,195,913 (GRCm39) |
V305L |
probably benign |
Het |
| C9 |
T |
A |
15: 6,488,402 (GRCm39) |
N85K |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,305,867 (GRCm39) |
I1941V |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,183,125 (GRCm39) |
V518A |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,905,106 (GRCm39) |
Y200N |
probably damaging |
Het |
| Ciao3 |
T |
C |
17: 26,001,226 (GRCm39) |
*493Q |
probably null |
Het |
| Cir1 |
A |
G |
2: 73,142,823 (GRCm39) |
S4P |
probably damaging |
Het |
| Cish |
G |
A |
9: 107,177,840 (GRCm39) |
R172Q |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,422,506 (GRCm39) |
N693K |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,538,939 (GRCm39) |
D249G |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,447 (GRCm39) |
D528G |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,174,489 (GRCm39) |
T484S |
possibly damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,138,596 (GRCm39) |
V259A |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,519,589 (GRCm39) |
S39C |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,623,695 (GRCm39) |
M60K |
|
Het |
| Eml2 |
T |
A |
7: 18,920,035 (GRCm39) |
V113D |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,406,325 (GRCm39) |
I1141F |
probably benign |
Het |
| Gm7298 |
T |
A |
6: 121,712,570 (GRCm39) |
S127R |
probably damaging |
Het |
| Hcn2 |
G |
A |
10: 79,570,017 (GRCm39) |
R622Q |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,423,723 (GRCm39) |
W746* |
probably null |
Het |
| Irs1 |
A |
G |
1: 82,265,412 (GRCm39) |
Y935H |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,936,827 (GRCm39) |
I183V |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lalba |
T |
C |
15: 98,379,474 (GRCm39) |
D103G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,747,210 (GRCm39) |
L822P |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,076,845 (GRCm39) |
C36Y |
probably damaging |
Het |
| Ly6e |
T |
C |
15: 74,830,183 (GRCm39) |
S46P |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,244,067 (GRCm39) |
I2098T |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,381,010 (GRCm39) |
E594G |
probably benign |
Het |
| Or52k2 |
T |
A |
7: 102,253,853 (GRCm39) |
H97Q |
probably benign |
Het |
| Parn |
T |
C |
16: 13,425,117 (GRCm39) |
D432G |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,704,793 (GRCm39) |
S836P |
probably damaging |
Het |
| Pcmtd2 |
C |
T |
2: 181,496,868 (GRCm39) |
R282C |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,328,490 (GRCm39) |
I425T |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,085,081 (GRCm39) |
|
probably null |
Het |
| Sars1 |
C |
T |
3: 108,338,780 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
G |
9: 59,645,121 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
| Srr |
T |
G |
11: 74,803,961 (GRCm39) |
|
probably null |
Het |
| Steap2 |
T |
A |
5: 5,732,967 (GRCm39) |
N19I |
possibly damaging |
Het |
| Sucla2 |
A |
G |
14: 73,806,433 (GRCm39) |
Y168C |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,760,281 (GRCm39) |
Q275R |
probably damaging |
Het |
| Trim56 |
T |
C |
5: 137,143,510 (GRCm39) |
N2S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,988,426 (GRCm39) |
H849L |
probably benign |
Het |
| Uevld |
A |
G |
7: 46,597,775 (GRCm39) |
I72T |
possibly damaging |
Het |
| Ybx1 |
A |
G |
4: 119,136,164 (GRCm39) |
*323Q |
probably null |
Het |
| Zfp354b |
C |
T |
11: 50,819,390 (GRCm39) |
|
probably null |
Het |
| Zfp36l2 |
A |
T |
17: 84,494,346 (GRCm39) |
L97Q |
probably benign |
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 |
|
|
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 |
PCR Primer
(F):5'- TGCAAGTTAATCTCATGGTGGAAG -3'
(R):5'- GTGCCCATCAGAAAACATGTG -3'
Sequencing Primer
(F):5'- CAAAGCTTATGAGATTCAAAGCATCC -3'
(R):5'- CCCATCAGAAAACATGTGAAGAATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation