Incidental Mutation 'R6530:Zfp949'
| ID |
522277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp949
|
| Ensembl Gene |
ENSMUSG00000032425 |
| Gene Name |
zinc finger protein 949 |
| Synonyms |
4930422I07Rik, Nczf |
| MMRRC Submission |
044656-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88430073-88453114 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 88449340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160652]
[ENSMUST00000161458]
[ENSMUST00000162827]
|
| AlphaFold |
E9Q732 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160652
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161458
|
| SMART Domains |
Protein: ENSMUSP00000125017
Gene: ENSMUSG00000032425
| 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 null
Transcript: ENSMUST00000162827
|
| SMART Domains |
Protein: ENSMUSP00000125325
Gene: ENSMUSG00000032425
| 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 |
noncoding transcript
Transcript: ENSMUST00000162985
|
| SMART Domains |
Protein: ENSMUSP00000124007
Gene: ENSMUSG00000032425
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
2.63e-32 |
SMART |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,746,039 (GRCm39) |
L74P |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,364 (GRCm39) |
T575A |
probably benign |
Het |
| Adck5 |
T |
G |
15: 76,478,047 (GRCm39) |
D224E |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,448,979 (GRCm39) |
N376S |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,499,499 (GRCm39) |
D254E |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,979,978 (GRCm39) |
A274S |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,961,791 (GRCm39) |
V159A |
probably benign |
Het |
| Ccdc138 |
G |
C |
10: 58,380,790 (GRCm39) |
G474R |
probably damaging |
Het |
| Coq7 |
T |
C |
7: 118,124,558 (GRCm39) |
T203A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,865 (GRCm39) |
I877T |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,542,856 (GRCm39) |
R2438H |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,031,366 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
A |
2: 125,231,190 (GRCm39) |
R459C |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,889,785 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
G |
A |
7: 39,057,514 (GRCm39) |
P702S |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,265,802 (GRCm39) |
Y182* |
probably null |
Het |
| Irf6 |
C |
T |
1: 192,839,657 (GRCm39) |
T44M |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,499,847 (GRCm39) |
N87S |
probably benign |
Het |
| Mtrf1 |
A |
T |
14: 79,640,331 (GRCm39) |
Q162L |
possibly damaging |
Het |
| Myoz3 |
G |
T |
18: 60,712,592 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
| Or8k27 |
A |
C |
2: 86,275,826 (GRCm39) |
S167A |
probably benign |
Het |
| Parg |
T |
C |
14: 31,931,156 (GRCm39) |
S176P |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,617 (GRCm39) |
V891G |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,367 (GRCm39) |
I21N |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,132,148 (GRCm39) |
V20A |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,070,011 (GRCm39) |
S1462R |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,471,950 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
C |
5: 87,724,147 (GRCm39) |
E270G |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,631 (GRCm39) |
F1436V |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,241,603 (GRCm39) |
|
probably null |
Het |
| Ucp2 |
A |
T |
7: 100,147,430 (GRCm39) |
E161D |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,252 (GRCm39) |
F217S |
possibly damaging |
Het |
| Wdr93 |
G |
A |
7: 79,405,741 (GRCm39) |
A207T |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,586,939 (GRCm39) |
S133P |
probably damaging |
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 |
|
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 |
|
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'- CAAGCCTAGAGTAAATTGATTGAGG -3'
(R):5'- AGGTTTAGGGATGCATTGCCC -3'
Sequencing Primer
(F):5'- ATTGAGGAGAAATGTGCTGTTAC -3'
(R):5'- AGGGATGCATTGCCCTGTTAATAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation