Incidental Mutation 'R6731:Zfp729a'
| ID |
530074 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729a
|
| Ensembl Gene |
ENSMUSG00000021510 |
| Gene Name |
zinc finger protein 729a |
| Synonyms |
A530054K11Rik |
| MMRRC Submission |
044849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 67768265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 655
(V655I)
|
| 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: V655I
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: V655I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
G |
A |
8: 124,619,956 (GRCm39) |
T128I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,988,926 (GRCm39) |
D3403E |
possibly damaging |
Het |
| Aldoc |
T |
A |
11: 78,216,918 (GRCm39) |
D319E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,849,858 (GRCm39) |
D1108E |
possibly damaging |
Het |
| Ankrd7 |
G |
A |
6: 18,866,653 (GRCm39) |
G58S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,796 (GRCm39) |
Y359F |
probably damaging |
Het |
| B3gnt2 |
G |
T |
11: 22,786,888 (GRCm39) |
S100* |
probably null |
Het |
| Cd46 |
T |
C |
1: 194,765,775 (GRCm39) |
|
probably null |
Het |
| Chst5 |
G |
T |
8: 112,616,676 (GRCm39) |
R315S |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,200,030 (GRCm39) |
S393P |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,217,720 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
C |
3: 82,920,208 (GRCm39) |
F329S |
probably damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,537,769 (GRCm39) |
T179A |
probably benign |
Het |
| Kat2a |
A |
T |
11: 100,599,099 (GRCm39) |
M559K |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,505,044 (GRCm39) |
I449T |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,830,367 (GRCm39) |
I1880N |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,443,629 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,770,790 (GRCm39) |
T131A |
probably damaging |
Het |
| Mroh6 |
T |
C |
15: 75,760,341 (GRCm39) |
T78A |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,363,294 (GRCm39) |
V326G |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,346 (GRCm39) |
Q6L |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,352,074 (GRCm39) |
I1863L |
probably damaging |
Het |
| Obi1 |
C |
T |
14: 104,716,910 (GRCm39) |
V488I |
probably benign |
Het |
| Os9 |
C |
T |
10: 126,934,412 (GRCm39) |
G408D |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,397,225 (GRCm39) |
S237P |
probably damaging |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,529 (GRCm39) |
R535H |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,012,947 (GRCm39) |
I320K |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,318 (GRCm39) |
F101S |
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,285,200 (GRCm39) |
V534A |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,988,733 (GRCm39) |
D207E |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,764 (GRCm39) |
I460V |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,761,807 (GRCm39) |
Q1623H |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,608,777 (GRCm39) |
N195S |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,418,149 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
A |
7: 109,409,944 (GRCm39) |
T643M |
probably damaging |
Het |
| Sele |
C |
T |
1: 163,881,242 (GRCm39) |
L481F |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,438,143 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tex44 |
T |
A |
1: 86,354,207 (GRCm39) |
S39T |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,893,172 (GRCm39) |
M140K |
possibly damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,297 (GRCm39) |
Y354C |
probably damaging |
Het |
| Trim21 |
A |
T |
7: 102,208,419 (GRCm39) |
F433L |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,920,420 (GRCm39) |
F406L |
probably damaging |
Het |
| Ubr1 |
G |
C |
2: 120,786,121 (GRCm39) |
H166Q |
probably null |
Het |
| Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,138,924 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp974 |
A |
T |
7: 27,611,074 (GRCm39) |
V217E |
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 |
|
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 |
PCR Primer
(F):5'- GTCACAATTGTAGGGTTTCTCTC -3'
(R):5'- TACAAGTGTGAAGTGTGTGGC -3'
Sequencing Primer
(F):5'- TGAAACATGGAAGTCCTTGCC -3'
(R):5'- GGCAAGGCCTTCTGCATTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation