Incidental Mutation 'R8402:Zfp729b'
| ID |
652246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729b
|
| Ensembl Gene |
ENSMUSG00000058093 |
| Gene Name |
zinc finger protein 729b |
| Synonyms |
AA987161 |
| MMRRC Submission |
067878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R8402 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67737558-67757767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67740696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 523
(P523L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012873]
[ENSMUST00000138725]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
| AlphaFold |
Q80VN4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012873
AA Change: P523L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: P523L
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
5 |
65 |
1.63e-28 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
3.58e-2 |
SMART |
|
PHD
|
133 |
194 |
1e1 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
3.16e-3 |
SMART |
|
PHD
|
217 |
278 |
7.77e0 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
1.79e-2 |
SMART |
|
PHD
|
301 |
362 |
1.65e1 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
1.28e-3 |
SMART |
|
PHD
|
441 |
502 |
4.46e0 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
496 |
518 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
524 |
546 |
4.47e-3 |
SMART |
|
PHD
|
525 |
586 |
5.77e0 |
SMART |
|
ZnF_C2H2
|
552 |
574 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
580 |
602 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
608 |
630 |
5.5e-3 |
SMART |
|
PHD
|
609 |
670 |
1.52e1 |
SMART |
|
ZnF_C2H2
|
636 |
658 |
6.99e-5 |
SMART |
|
ZnF_C2H2
|
664 |
686 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
720 |
742 |
3.63e-3 |
SMART |
|
PHD
|
721 |
782 |
2.67e0 |
SMART |
|
ZnF_C2H2
|
748 |
770 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
776 |
798 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
804 |
826 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
832 |
854 |
1.47e-3 |
SMART |
|
PHD
|
833 |
894 |
4.93e0 |
SMART |
|
ZnF_C2H2
|
860 |
882 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
888 |
910 |
4.4e-2 |
SMART |
|
ZnF_C2H2
|
916 |
938 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
944 |
966 |
4.17e-3 |
SMART |
|
ZnF_C2H2
|
972 |
994 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
1000 |
1022 |
1.69e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138725
|
| SMART Domains |
Protein: ENSMUSP00000115783
Gene: ENSMUSG00000058093
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
15 |
75 |
1.63e-28 |
SMART |
|
ZnF_C2H2
|
142 |
164 |
3.58e-2 |
SMART |
|
ZnF_C2H2
|
170 |
192 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
198 |
220 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
226 |
248 |
3.16e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224814
AA Change: P533L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts12 |
A |
T |
15: 11,263,376 (GRCm39) |
K579N |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,035,363 (GRCm39) |
V89A |
probably benign |
Het |
| Anapc1 |
G |
A |
2: 128,472,148 (GRCm39) |
S1458L |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,508,949 (GRCm39) |
Y325C |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,688,467 (GRCm39) |
Y437C |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,413,879 (GRCm39) |
S806T |
probably damaging |
Het |
| Clec2m |
T |
A |
6: 129,300,007 (GRCm39) |
D157V |
possibly damaging |
Het |
| Ddit4l |
A |
G |
3: 137,331,888 (GRCm39) |
T85A |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,011,393 (GRCm39) |
W1183* |
probably null |
Het |
| Dmxl1 |
G |
T |
18: 50,011,409 (GRCm39) |
V1189L |
probably benign |
Het |
| Dmxl1 |
G |
C |
18: 50,011,394 (GRCm39) |
D1184H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,116,197 (GRCm39) |
D820G |
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,750,972 (GRCm39) |
S289P |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gabrb2 |
T |
C |
11: 42,378,131 (GRCm39) |
W116R |
probably damaging |
Het |
| Galnt7 |
G |
A |
8: 57,995,953 (GRCm39) |
A355V |
probably damaging |
Het |
| Klk1b5 |
T |
G |
7: 43,867,962 (GRCm39) |
F45V |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,103,185 (GRCm39) |
V661A |
probably benign |
Het |
| Nfkbiz |
T |
C |
16: 55,636,750 (GRCm39) |
N517S |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,716 (GRCm39) |
I145M |
probably benign |
Het |
| Or10d5 |
T |
A |
9: 39,861,713 (GRCm39) |
Y118F |
probably benign |
Het |
| P2rx1 |
T |
C |
11: 72,904,715 (GRCm39) |
F368L |
probably damaging |
Het |
| Palld |
A |
T |
8: 62,164,440 (GRCm39) |
V417E |
probably damaging |
Het |
| Robo1 |
C |
A |
16: 72,821,385 (GRCm39) |
A1375E |
probably benign |
Het |
| Rps24 |
G |
T |
14: 24,540,829 (GRCm39) |
|
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,949 (GRCm39) |
N259D |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,073,037 (GRCm39) |
N628K |
probably benign |
Het |
| Tada3 |
A |
T |
6: 113,351,774 (GRCm39) |
L177Q |
probably damaging |
Het |
| Tcam1 |
T |
A |
11: 106,177,731 (GRCm39) |
L508Q |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,946,359 (GRCm39) |
S360P |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,424,718 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
A |
G |
3: 64,178,617 (GRCm39) |
|
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,204,879 (GRCm39) |
E121G |
probably damaging |
Het |
| Zfp607b |
T |
A |
7: 27,402,127 (GRCm39) |
H194Q |
probably damaging |
Het |
|
| Other mutations in Zfp729b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02083:Zfp729b
|
APN |
13 |
67,743,349 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02852:Zfp729b
|
APN |
13 |
67,740,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4449001:Zfp729b
|
UTSW |
13 |
67,739,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0238:Zfp729b
|
UTSW |
13 |
67,740,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0238:Zfp729b
|
UTSW |
13 |
67,740,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0450:Zfp729b
|
UTSW |
13 |
67,739,253 (GRCm39) |
missense |
probably benign |
|
|
R0510:Zfp729b
|
UTSW |
13 |
67,739,253 (GRCm39) |
missense |
probably benign |
|
|
R1122:Zfp729b
|
UTSW |
13 |
67,743,403 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1400:Zfp729b
|
UTSW |
13 |
67,740,913 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1915:Zfp729b
|
UTSW |
13 |
67,741,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Zfp729b
|
UTSW |
13 |
67,743,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2270:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2344:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2377:Zfp729b
|
UTSW |
13 |
67,739,820 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2930:Zfp729b
|
UTSW |
13 |
67,739,973 (GRCm39) |
missense |
probably benign |
|
|
R3053:Zfp729b
|
UTSW |
13 |
67,741,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3404:Zfp729b
|
UTSW |
13 |
67,739,283 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4118:Zfp729b
|
UTSW |
13 |
67,740,829 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4947:Zfp729b
|
UTSW |
13 |
67,744,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5408:Zfp729b
|
UTSW |
13 |
67,739,563 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5511:Zfp729b
|
UTSW |
13 |
67,740,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Zfp729b
|
UTSW |
13 |
67,739,140 (GRCm39) |
missense |
probably benign |
|
|
R5908:Zfp729b
|
UTSW |
13 |
67,739,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5977:Zfp729b
|
UTSW |
13 |
67,739,740 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5996:Zfp729b
|
UTSW |
13 |
67,741,977 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7086:Zfp729b
|
UTSW |
13 |
67,741,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7146:Zfp729b
|
UTSW |
13 |
67,741,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7217:Zfp729b
|
UTSW |
13 |
67,743,367 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7332:Zfp729b
|
UTSW |
13 |
67,757,755 (GRCm39) |
splice site |
probably null |
|
|
R7472:Zfp729b
|
UTSW |
13 |
67,742,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7615:Zfp729b
|
UTSW |
13 |
67,739,617 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7639:Zfp729b
|
UTSW |
13 |
67,739,971 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7652:Zfp729b
|
UTSW |
13 |
67,739,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7738:Zfp729b
|
UTSW |
13 |
67,740,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8137:Zfp729b
|
UTSW |
13 |
67,740,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:Zfp729b
|
UTSW |
13 |
67,739,617 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8941:Zfp729b
|
UTSW |
13 |
67,741,218 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9014:Zfp729b
|
UTSW |
13 |
67,740,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Zfp729b
|
UTSW |
13 |
67,740,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Zfp729b
|
UTSW |
13 |
67,741,942 (GRCm39) |
nonsense |
probably null |
|
|
R9270:Zfp729b
|
UTSW |
13 |
67,740,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Zfp729b
|
UTSW |
13 |
67,742,014 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9390:Zfp729b
|
UTSW |
13 |
67,739,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9442:Zfp729b
|
UTSW |
13 |
67,739,337 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9620:Zfp729b
|
UTSW |
13 |
67,739,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0023:Zfp729b
|
UTSW |
13 |
67,740,578 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0028:Zfp729b
|
UTSW |
13 |
67,740,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Zfp729b
|
UTSW |
13 |
67,741,189 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGAACAGAAGGCCTTTC -3'
(R):5'- TCCATCAAGACTTTCCACGC -3'
Sequencing Primer
(F):5'- TAATGGAAGGCCTTGTCACAC -3'
(R):5'- GACTTTCCACGCATAAGAGAATTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation