Incidental Mutation 'R1255:Zfp729a'
ID |
151428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp729a
|
Ensembl Gene |
ENSMUSG00000021510 |
Gene Name |
zinc finger protein 729a |
Synonyms |
A530054K11Rik |
MMRRC Submission |
039322-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1255 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 67769965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 88
(E88G)
|
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: E88G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000012314 Gene: ENSMUSG00000021510 AA Change: E88G
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
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
T |
7: 119,807,016 (GRCm39) |
S21C |
probably damaging |
Het |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Acsf3 |
T |
C |
8: 123,512,705 (GRCm39) |
|
probably null |
Het |
Aff3 |
A |
T |
1: 38,243,965 (GRCm39) |
|
probably null |
Het |
Antxr2 |
A |
T |
5: 98,123,231 (GRCm39) |
I272N |
probably benign |
Het |
Asphd2 |
A |
C |
5: 112,539,677 (GRCm39) |
V52G |
probably damaging |
Het |
Atxn3 |
T |
A |
12: 101,900,593 (GRCm39) |
Q230L |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,581,132 (GRCm39) |
I9T |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
Ciz1 |
T |
A |
2: 32,255,888 (GRCm39) |
|
probably null |
Het |
Dennd5b |
A |
T |
6: 148,943,148 (GRCm39) |
M576K |
possibly damaging |
Het |
Ebf3 |
C |
T |
7: 136,826,941 (GRCm39) |
V315I |
probably benign |
Het |
Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
Gimap1 |
T |
A |
6: 48,719,940 (GRCm39) |
V184E |
probably benign |
Het |
Gtf2f1 |
A |
G |
17: 57,317,982 (GRCm39) |
V18A |
probably damaging |
Het |
Kcnn3 |
A |
T |
3: 89,559,416 (GRCm39) |
D562V |
possibly damaging |
Het |
Kif20b |
A |
G |
19: 34,927,506 (GRCm39) |
T883A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,556,151 (GRCm39) |
L1198Q |
probably damaging |
Het |
Nipal2 |
T |
C |
15: 34,584,828 (GRCm39) |
I247V |
probably benign |
Het |
Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
Rad51ap2 |
G |
T |
12: 11,508,095 (GRCm39) |
K672N |
possibly damaging |
Het |
Rbm28 |
C |
T |
6: 29,158,246 (GRCm39) |
G155D |
probably damaging |
Het |
Sema6a |
A |
T |
18: 47,382,366 (GRCm39) |
M701K |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,260,974 (GRCm39) |
L142Q |
probably damaging |
Het |
Snx25 |
A |
T |
8: 46,569,275 (GRCm39) |
N207K |
probably benign |
Het |
Son |
T |
A |
16: 91,461,583 (GRCm39) |
V205E |
probably damaging |
Het |
Spz1 |
C |
A |
13: 92,712,138 (GRCm39) |
V113F |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,872,120 (GRCm39) |
T336A |
probably benign |
Het |
Tln1 |
T |
C |
4: 43,538,044 (GRCm39) |
D1852G |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATGACAGAGAACGAAAAGCCTtttgac -3'
(R):5'- GCTCTTCTTTTAGTGGAAGGTGACATGA -3'
Sequencing Primer
(F):5'- aaagtaatgatggaaagtggaagg -3'
(R):5'- AGGTGACATGATTTTCACTATTTCTG -3'
|
Posted On |
2014-01-29 |