Incidental Mutation 'R9219:Zfp949'
| ID |
699371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp949
|
| Ensembl Gene |
ENSMUSG00000032425 |
| Gene Name |
zinc finger protein 949 |
| Synonyms |
4930422I07Rik, Nczf |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R9219 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88430073-88453114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88451723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 431
(T431M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160652]
[ENSMUST00000161458]
[ENSMUST00000162827]
|
| AlphaFold |
E9Q732 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160652
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161458
AA Change: T431M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125017
Gene: ENSMUSG00000032425
AA Change: T431M
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.63e-32 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
5.99e1 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
548 |
570 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
576 |
598 |
1.4e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162827
AA Change: T431M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125325
Gene: ENSMUSG00000032425
AA Change: T431M
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.63e-32 |
SMART |
|
ZnF_C2H2
|
268 |
290 |
5.99e1 |
SMART |
|
ZnF_C2H2
|
296 |
318 |
5.5e-3 |
SMART |
|
ZnF_C2H2
|
324 |
346 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
352 |
374 |
2.91e-2 |
SMART |
|
ZnF_C2H2
|
380 |
402 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
408 |
430 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
436 |
458 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
464 |
486 |
7.9e-4 |
SMART |
|
ZnF_C2H2
|
492 |
514 |
2.43e-4 |
SMART |
|
ZnF_C2H2
|
520 |
542 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
548 |
570 |
1.03e-2 |
SMART |
|
ZnF_C2H2
|
576 |
598 |
1.4e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis with defects in growth, development, cell proliferation, apoptosis and turning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
A |
T |
10: 102,858,121 (GRCm39) |
Y193N |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,008,101 (GRCm39) |
F116S |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,796,376 (GRCm39) |
M801L |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,334,317 (GRCm39) |
V992A |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,567,184 (GRCm39) |
R1322S |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,212 (GRCm39) |
V280A |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,836,691 (GRCm39) |
S3560R |
unknown |
Het |
| Flg |
A |
G |
3: 93,198,406 (GRCm39) |
E245G |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,898 (GRCm39) |
S68P |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,678 (GRCm39) |
T582A |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,800,612 (GRCm39) |
C2069R |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,552 (GRCm39) |
I867K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,594,844 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
A |
6: 69,608,689 (GRCm39) |
M77L |
probably benign |
Het |
| Kcnmb4 |
G |
C |
10: 116,309,372 (GRCm39) |
R19G |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,010,232 (GRCm39) |
T282A |
probably damaging |
Het |
| Lrrc58 |
T |
A |
16: 37,689,180 (GRCm39) |
L108Q |
probably damaging |
Het |
| Macf1 |
C |
A |
4: 123,301,554 (GRCm39) |
A983S |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 13,061,383 (GRCm39) |
N794I |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,119,377 (GRCm39) |
F469L |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,370,800 (GRCm39) |
C3244* |
probably null |
Het |
| Myo16 |
G |
T |
8: 10,492,236 (GRCm39) |
R726L |
unknown |
Het |
| Naaa |
A |
G |
5: 92,425,864 (GRCm39) |
V43A |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,213 (GRCm39) |
V941A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
T |
C |
7: 23,020,941 (GRCm39) |
V476A |
possibly damaging |
Het |
| Or1e23 |
A |
C |
11: 73,407,801 (GRCm39) |
S75A |
probably damaging |
Het |
| Pcdh20 |
T |
G |
14: 88,706,255 (GRCm39) |
R348S |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,549,809 (GRCm39) |
P172T |
probably damaging |
Het |
| Pramel26 |
G |
A |
4: 143,537,303 (GRCm39) |
R343C |
probably benign |
Het |
| Prkd3 |
A |
G |
17: 79,273,628 (GRCm39) |
S543P |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,745,632 (GRCm39) |
Q2446R |
probably benign |
Het |
| Qrich2 |
A |
C |
11: 116,335,900 (GRCm39) |
S345A |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,742,584 (GRCm39) |
E498G |
possibly damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,030,507 (GRCm39) |
T675A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,344 (GRCm39) |
Y848N |
possibly damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,531 (GRCm39) |
D109G |
probably damaging |
Het |
| Ubl3 |
T |
C |
5: 148,443,270 (GRCm39) |
E96G |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,663,806 (GRCm39) |
T250A |
probably benign |
Het |
| Zfp871 |
A |
T |
17: 32,993,914 (GRCm39) |
N420K |
probably benign |
Het |
|
| Other mutations in Zfp949 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03201:Zfp949
|
APN |
9 |
88,450,717 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0034:Zfp949
|
UTSW |
9 |
88,449,693 (GRCm39) |
intron |
probably benign |
|
|
R0462:Zfp949
|
UTSW |
9 |
88,450,787 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1457:Zfp949
|
UTSW |
9 |
88,451,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Zfp949
|
UTSW |
9 |
88,451,830 (GRCm39) |
nonsense |
probably null |
|
|
R1574:Zfp949
|
UTSW |
9 |
88,451,830 (GRCm39) |
nonsense |
probably null |
|
|
R1878:Zfp949
|
UTSW |
9 |
88,451,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Zfp949
|
UTSW |
9 |
88,452,115 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4488:Zfp949
|
UTSW |
9 |
88,452,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4839:Zfp949
|
UTSW |
9 |
88,452,047 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5309:Zfp949
|
UTSW |
9 |
88,449,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5312:Zfp949
|
UTSW |
9 |
88,449,236 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5461:Zfp949
|
UTSW |
9 |
88,451,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6530:Zfp949
|
UTSW |
9 |
88,449,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6844:Zfp949
|
UTSW |
9 |
88,451,464 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7749:Zfp949
|
UTSW |
9 |
88,451,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Zfp949
|
UTSW |
9 |
88,451,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8150:Zfp949
|
UTSW |
9 |
88,452,053 (GRCm39) |
missense |
probably benign |
|
|
R8290:Zfp949
|
UTSW |
9 |
88,451,293 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8349:Zfp949
|
UTSW |
9 |
88,449,302 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8449:Zfp949
|
UTSW |
9 |
88,449,302 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8808:Zfp949
|
UTSW |
9 |
88,451,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8949:Zfp949
|
UTSW |
9 |
88,450,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9396:Zfp949
|
UTSW |
9 |
88,449,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9486:Zfp949
|
UTSW |
9 |
88,452,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9488:Zfp949
|
UTSW |
9 |
88,452,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Zfp949
|
UTSW |
9 |
88,436,500 (GRCm39) |
start gained |
probably benign |
|
|
R9727:Zfp949
|
UTSW |
9 |
88,451,913 (GRCm39) |
nonsense |
probably null |
|
|
R9778:Zfp949
|
UTSW |
9 |
88,449,340 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTTCCCAGTGAATTAGACAT -3'
(R):5'- AGGTTTGACTTCTGTGAAAAGGT -3'
Sequencing Primer
(F):5'- TCCAGTGTGAGAAACCCTTTAGC -3'
(R):5'- GCTGAGGACTAACTTCCACTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation