Incidental Mutation 'R7217:Zfp729b'
| ID |
561547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp729b
|
| Ensembl Gene |
ENSMUSG00000058093 |
| Gene Name |
zinc finger protein 729b |
| Synonyms |
AA987161 |
| MMRRC Submission |
045289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R7217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
67737558-67757767 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67743367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 66
(V66A)
|
| 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: V66A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000012873
Gene: ENSMUSG00000058093
AA Change: V66A
| 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 |
possibly damaging
Transcript: ENSMUST00000138725
AA Change: V76A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115783
Gene: ENSMUSG00000058093
AA Change: V76A
| 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 |
possibly damaging
Transcript: ENSMUST00000224814
AA Change: V76A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225627
AA Change: V76A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
| Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
| Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
| Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
| Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
| Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
| H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
| Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
| Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
| Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
| Rbm25 |
G |
A |
12: 83,710,991 (GRCm39) |
R368Q |
unknown |
Het |
| Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
| Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
| Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
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 |
|
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 |
|
R8402:Zfp729b
|
UTSW |
13 |
67,740,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGTCCTGGAGAACACAAGTTAATC -3'
(R):5'- TGGTGTGCCCATCAGAAAAC -3'
Sequencing Primer
(F):5'- CAAAGCTTATGAGATTCAAAGCATCC -3'
(R):5'- TGGGAAAAATGAATCCTCTATATTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation