Incidental Mutation 'R8449:Zfp949'
| ID |
654669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp949
|
| Ensembl Gene |
ENSMUSG00000032425 |
| Gene Name |
zinc finger protein 949 |
| Synonyms |
4930422I07Rik, Nczf |
| MMRRC Submission |
067829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
88430073-88453114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 88449302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 36
(V36L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160652]
[ENSMUST00000161458]
[ENSMUST00000162827]
|
| AlphaFold |
E9Q732 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160652
AA Change: V36L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161458
AA Change: V36L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125017
Gene: ENSMUSG00000032425
AA Change: V36L
| 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 |
possibly damaging
Transcript: ENSMUST00000162827
AA Change: V36L
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125325
Gene: ENSMUSG00000032425
AA Change: V36L
| 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: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
G |
11: 105,885,768 (GRCm39) |
E58G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,629,302 (GRCm39) |
F4I |
possibly damaging |
Het |
| Arih2 |
T |
C |
9: 108,488,872 (GRCm39) |
D282G |
possibly damaging |
Het |
| Atp7b |
C |
T |
8: 22,503,556 (GRCm39) |
V733I |
probably damaging |
Het |
| Avil |
A |
G |
10: 126,845,861 (GRCm39) |
D370G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,975,260 (GRCm39) |
H74R |
|
Het |
| Clec9a |
C |
A |
6: 129,387,292 (GRCm39) |
A49E |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,666,840 (GRCm39) |
|
probably null |
Het |
| Cyp11b2 |
A |
G |
15: 74,723,428 (GRCm39) |
M412T |
possibly damaging |
Het |
| Dhrs7l |
T |
C |
12: 72,659,340 (GRCm39) |
N145D |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,966,815 (GRCm39) |
Q399R |
possibly damaging |
Het |
| Fam47e |
C |
A |
5: 92,702,990 (GRCm39) |
R21S |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,694 (GRCm39) |
I150V |
probably damaging |
Het |
| Gm7361 |
T |
A |
5: 26,465,387 (GRCm39) |
M128K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,468,068 (GRCm39) |
E190K |
probably damaging |
Het |
| Hells |
T |
C |
19: 38,940,286 (GRCm39) |
S396P |
probably damaging |
Het |
| Hrg |
T |
A |
16: 22,780,286 (GRCm39) |
S521R |
unknown |
Het |
| Itih5 |
A |
G |
2: 10,191,800 (GRCm39) |
T112A |
probably benign |
Het |
| Ly9 |
T |
A |
1: 171,421,586 (GRCm39) |
N555I |
probably damaging |
Het |
| Morc2b |
C |
T |
17: 33,355,775 (GRCm39) |
E666K |
probably benign |
Het |
| Mup8 |
C |
A |
4: 60,222,382 (GRCm39) |
V30L |
probably benign |
Het |
| Nebl |
T |
A |
2: 17,418,593 (GRCm39) |
E268D |
probably damaging |
Het |
| Nr4a3 |
G |
T |
4: 48,052,170 (GRCm39) |
R308L |
probably benign |
Het |
| Or10k2 |
A |
T |
8: 84,268,301 (GRCm39) |
H176L |
probably damaging |
Het |
| Or14j1 |
A |
G |
17: 38,146,561 (GRCm39) |
R224G |
probably damaging |
Het |
| Or4c10 |
A |
T |
2: 89,760,878 (GRCm39) |
I242L |
possibly damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Or8k33 |
T |
G |
2: 86,383,980 (GRCm39) |
I163L |
probably benign |
Het |
| Plcd3 |
A |
G |
11: 102,965,496 (GRCm39) |
Y530H |
probably damaging |
Het |
| Pou2af1 |
A |
T |
9: 51,144,326 (GRCm39) |
E80V |
probably damaging |
Het |
| Scgb2b18 |
C |
T |
7: 32,872,656 (GRCm39) |
D50N |
probably benign |
Het |
| Shisa6 |
G |
C |
11: 66,416,556 (GRCm39) |
Q79E |
probably benign |
Het |
| Sis |
C |
T |
3: 72,810,984 (GRCm39) |
G1679D |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,386,519 (GRCm39) |
M173K |
possibly damaging |
Het |
| Ston2 |
T |
C |
12: 91,608,649 (GRCm39) |
D817G |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,344,428 (GRCm39) |
F1431Y |
probably benign |
Het |
| Uevld |
T |
A |
7: 46,595,055 (GRCm39) |
N179I |
probably damaging |
Het |
| Utp6 |
G |
T |
11: 79,836,610 (GRCm39) |
Q375K |
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,785 (GRCm39) |
E322D |
probably damaging |
Het |
| Wnt5a |
A |
G |
14: 28,235,108 (GRCm39) |
M51V |
probably benign |
Het |
| Zfp202 |
A |
T |
9: 40,118,976 (GRCm39) |
R130* |
probably null |
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 |
|
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 |
|
R9219:Zfp949
|
UTSW |
9 |
88,451,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCAAAATACACATGAGAGCCTTCC -3'
(R):5'- TTTAGGGATGCATTGCCCTG -3'
Sequencing Primer
(F):5'- CTGTTACAGGAGTTGgtg -3'
(R):5'- AGGGATGCATTGCCCTGTTAATAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation