Incidental Mutation 'IGL03130:Zfp729a'
| ID |
410300 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp729a
|
| Ensembl Gene |
ENSMUSG00000021510 |
| Gene Name |
zinc finger protein 729a |
| Synonyms |
A530054K11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL03130
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
| Type of Mutation |
splice site (18005 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 67767761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012314]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
| AlphaFold |
Q4QQP3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012314
AA Change: I823V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: I823V
| 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 null
Transcript: ENSMUST00000224814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225608
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225627
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
G |
T |
10: 85,224,347 (GRCm39) |
|
probably null |
Het |
| Agtpbp1 |
T |
C |
13: 59,622,403 (GRCm39) |
E941G |
possibly damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,808 (GRCm39) |
Y1526* |
probably null |
Het |
| Brd1 |
T |
C |
15: 88,572,577 (GRCm39) |
I1165V |
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,558,393 (GRCm39) |
D473G |
possibly damaging |
Het |
| Clstn3 |
G |
A |
6: 124,436,222 (GRCm39) |
L176F |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,654,689 (GRCm39) |
N279S |
probably benign |
Het |
| Dpy19l3 |
A |
G |
7: 35,452,097 (GRCm39) |
S16P |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,288 (GRCm39) |
C1806S |
probably benign |
Het |
| Fam151b |
T |
C |
13: 92,586,701 (GRCm39) |
Y244C |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,255,787 (GRCm39) |
M750T |
possibly damaging |
Het |
| Gm11564 |
T |
A |
11: 99,705,879 (GRCm39) |
T184S |
unknown |
Het |
| Gnptab |
A |
G |
10: 88,272,233 (GRCm39) |
K958E |
possibly damaging |
Het |
| Hibch |
T |
C |
1: 52,924,310 (GRCm39) |
S162P |
possibly damaging |
Het |
| Itpr1 |
T |
C |
6: 108,500,362 (GRCm39) |
S2651P |
probably benign |
Het |
| LTO1 |
A |
G |
7: 144,470,197 (GRCm39) |
E42G |
probably damaging |
Het |
| Lyrm1 |
A |
G |
7: 119,513,403 (GRCm39) |
D56G |
probably damaging |
Het |
| Manba |
T |
C |
3: 135,256,920 (GRCm39) |
Y528H |
probably damaging |
Het |
| Npas2 |
A |
C |
1: 39,352,109 (GRCm39) |
E186D |
probably damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,166 (GRCm39) |
D293E |
probably benign |
Het |
| Or7c19 |
A |
T |
8: 85,957,258 (GRCm39) |
I45F |
possibly damaging |
Het |
| Or7d11 |
C |
A |
9: 19,966,668 (GRCm39) |
L30F |
probably benign |
Het |
| Pcdhb6 |
T |
A |
18: 37,468,640 (GRCm39) |
Y520* |
probably null |
Het |
| Plekhm1 |
C |
T |
11: 103,268,207 (GRCm39) |
R588H |
probably benign |
Het |
| Psg23 |
A |
T |
7: 18,344,341 (GRCm39) |
H371Q |
probably benign |
Het |
| Ptpn12 |
T |
C |
5: 21,207,610 (GRCm39) |
|
probably benign |
Het |
| Rela |
T |
C |
19: 5,689,909 (GRCm39) |
C120R |
probably damaging |
Het |
| Rps6kc1 |
T |
A |
1: 190,532,008 (GRCm39) |
I665F |
probably damaging |
Het |
| Spg21 |
A |
G |
9: 65,380,990 (GRCm39) |
Q99R |
probably benign |
Het |
| St14 |
A |
G |
9: 31,008,367 (GRCm39) |
|
probably null |
Het |
| Sult1c2 |
A |
T |
17: 54,137,099 (GRCm39) |
N274K |
probably benign |
Het |
| Syk |
T |
C |
13: 52,776,768 (GRCm39) |
V256A |
probably benign |
Het |
| Tcte1 |
A |
G |
17: 45,844,222 (GRCm39) |
D66G |
probably damaging |
Het |
| Tgm4 |
C |
T |
9: 122,885,580 (GRCm39) |
T374M |
probably damaging |
Het |
| Tns4 |
T |
C |
11: 98,959,095 (GRCm39) |
H668R |
probably damaging |
Het |
| Tsn |
C |
T |
1: 118,232,999 (GRCm39) |
A102T |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,189 (GRCm39) |
S350T |
possibly damaging |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,214 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,515,970 (GRCm39) |
|
probably benign |
Het |
| Vmn2r27 |
T |
C |
6: 124,169,276 (GRCm39) |
D618G |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,330,373 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
T |
C |
19: 55,380,279 (GRCm39) |
Y143H |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,250,620 (GRCm39) |
Y17N |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,787,586 (GRCm39) |
T251A |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation