Incidental Mutation 'R7001:Zfp729a'
| ID |
544559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729a
|
| Ensembl Gene |
ENSMUSG00000021510 |
| Gene Name |
zinc finger protein 729a |
| Synonyms |
A530054K11Rik |
| MMRRC Submission |
045106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R7001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67768468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 587
(I587K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012314]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
| AlphaFold |
Q4QQP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012314
AA Change: I587K
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: I587K
| 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: 98.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,771,272 (GRCm39) |
Q154K |
probably benign |
Het |
| Aldh6a1 |
T |
G |
12: 84,488,662 (GRCm39) |
T75P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,871,230 (GRCm39) |
H98L |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,744,781 (GRCm39) |
F800S |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,091,717 (GRCm39) |
M434K |
possibly damaging |
Het |
| Cap1 |
A |
T |
4: 122,758,408 (GRCm39) |
F257L |
probably benign |
Het |
| Cdt1 |
T |
A |
8: 123,299,249 (GRCm39) |
H510Q |
probably damaging |
Het |
| Clca3b |
A |
C |
3: 144,533,733 (GRCm39) |
D547E |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,004,627 (GRCm39) |
V35A |
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,945,112 (GRCm39) |
N305K |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,712,844 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
| Ddc |
T |
C |
11: 11,774,870 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,601,681 (GRCm39) |
Y3713F |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,077,041 (GRCm39) |
S504T |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,547,906 (GRCm39) |
F941L |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,547,952 (GRCm39) |
N956S |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,569 (GRCm39) |
H300Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,466 (GRCm39) |
T131A |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,904,798 (GRCm39) |
E890G |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,817,269 (GRCm39) |
P4334H |
probably damaging |
Het |
| Gcdh |
C |
A |
8: 85,617,540 (GRCm39) |
V227L |
probably benign |
Het |
| Gm8267 |
A |
C |
14: 44,960,385 (GRCm39) |
M120R |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Lasp1 |
T |
G |
11: 97,697,659 (GRCm39) |
H26Q |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,605,155 (GRCm39) |
I297N |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,101 (GRCm39) |
N1873K |
unknown |
Het |
| Map2 |
A |
G |
1: 66,454,646 (GRCm39) |
I1179V |
probably benign |
Het |
| Mtss1 |
A |
C |
15: 58,820,183 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,214,438 (GRCm39) |
E28G |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,217,320 (GRCm39) |
T2386I |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,337,188 (GRCm39) |
V362L |
probably benign |
Het |
| N6amt1 |
G |
A |
16: 87,151,180 (GRCm39) |
V14M |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,349 (GRCm39) |
|
probably null |
Het |
| Nol6 |
A |
G |
4: 41,121,279 (GRCm39) |
S326P |
probably benign |
Het |
| Olr1 |
T |
A |
6: 129,465,074 (GRCm39) |
E100V |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,428 (GRCm39) |
S56G |
possibly damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,495 (GRCm39) |
S186T |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,479 (GRCm39) |
Y119H |
probably damaging |
Het |
| Prb1b |
C |
T |
6: 132,289,527 (GRCm39) |
G99E |
unknown |
Het |
| Ryr2 |
A |
T |
13: 11,809,491 (GRCm39) |
M778K |
probably damaging |
Het |
| Serpina3n |
G |
T |
12: 104,375,184 (GRCm39) |
M85I |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,040,205 (GRCm39) |
V591A |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,053,640 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
C |
T |
5: 22,016,334 (GRCm39) |
V646I |
probably damaging |
Het |
| Slitrk3 |
T |
A |
3: 72,957,942 (GRCm39) |
K277* |
probably null |
Het |
| Sv2c |
A |
G |
13: 96,118,461 (GRCm39) |
S463P |
probably benign |
Het |
| Tbc1d4 |
G |
A |
14: 101,696,185 (GRCm39) |
T858M |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,609,457 (GRCm39) |
I193F |
probably damaging |
Het |
| Tm6sf2 |
A |
C |
8: 70,530,982 (GRCm39) |
D245A |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,239,380 (GRCm39) |
Y234H |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,842,157 (GRCm39) |
S46T |
probably benign |
Het |
| Zfp872 |
C |
A |
9: 22,111,912 (GRCm39) |
H464N |
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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- GGAAAGCGGAAGGCCTTTC -3'
(R):5'- TCTCTGTCATCACTTTCTAAACACA -3'
Sequencing Primer
(F):5'- GAAGGCCTTTCCACATACTTCAC -3'
(R):5'- CCCTACAAGTGTGAAGTATGTGGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation