Incidental Mutation 'R2043:Zfp729a'
| ID |
225231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729a
|
| Ensembl Gene |
ENSMUSG00000021510 |
| Gene Name |
zinc finger protein 729a |
| Synonyms |
A530054K11Rik |
| MMRRC Submission |
040050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R2043 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
67760882-67785910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67769291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 313
(K313E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012314]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
| AlphaFold |
Q4QQP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012314
AA Change: K313E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012314
Gene: ENSMUSG00000021510
AA Change: K313E
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
C |
18: 80,171,541 (GRCm39) |
M956R |
probably damaging |
Het |
| Aldh1l1 |
T |
A |
6: 90,534,314 (GRCm39) |
D36E |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,872,890 (GRCm39) |
D718G |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
| Bub1 |
A |
T |
2: 127,646,140 (GRCm39) |
C947S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,864 (GRCm39) |
M585T |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
| Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
| H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
| Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
| Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
| Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 86,914,882 (GRCm39) |
M519K |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,105,001 (GRCm39) |
I67N |
possibly damaging |
Het |
| Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
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 |
|
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'- TGACAGAGAACGAAAAGCCT -3'
(R):5'- GGTCCTTCCATAGTCCATCATTAA -3'
Sequencing Primer
(F):5'- CGAAAAGCCTTTTGACATACTTCAC -3'
(R):5'- GAGTTCATACAGGAGAGAATCTCTAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation