Incidental Mutation 'R6844:Zfp949'
ID |
534675 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp949
|
Ensembl Gene |
ENSMUSG00000032425 |
Gene Name |
zinc finger protein 949 |
Synonyms |
4930422I07Rik, Nczf |
MMRRC Submission |
044950-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R6844 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
88430073-88453114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88451464 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 345
(T345A)
|
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 |
possibly damaging
Transcript: ENSMUST00000161458
AA Change: T345A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125017 Gene: ENSMUSG00000032425 AA Change: T345A
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: T345A
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000125325 Gene: ENSMUSG00000032425 AA Change: T345A
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 |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
92% (36/39) |
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 |
Arhgap18 |
G |
A |
10: 26,648,682 (GRCm39) |
A35T |
probably benign |
Het |
Arhgap21 |
A |
G |
2: 20,886,116 (GRCm39) |
S354P |
probably benign |
Het |
Casq2 |
A |
T |
3: 102,017,578 (GRCm39) |
H86L |
possibly damaging |
Het |
Ccdc188 |
G |
A |
16: 18,036,074 (GRCm39) |
G83E |
probably damaging |
Het |
Cd22 |
G |
T |
7: 30,572,856 (GRCm39) |
|
probably null |
Het |
Cyp2b13 |
T |
A |
7: 25,781,122 (GRCm39) |
I178N |
probably damaging |
Het |
Cyp4a31 |
T |
A |
4: 115,420,989 (GRCm39) |
C26S |
probably null |
Het |
Eif3h |
T |
C |
15: 51,728,729 (GRCm39) |
D42G |
possibly damaging |
Het |
Elovl4 |
T |
A |
9: 83,672,164 (GRCm39) |
I52L |
probably benign |
Het |
Fgfbp3 |
C |
A |
19: 36,896,280 (GRCm39) |
A113S |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,813,969 (GRCm39) |
K3429N |
possibly damaging |
Het |
Gemin5 |
T |
C |
11: 58,054,730 (GRCm39) |
D224G |
probably benign |
Het |
Gm3415 |
T |
C |
5: 146,494,811 (GRCm39) |
I158T |
probably benign |
Het |
Gpr22 |
C |
A |
12: 31,759,951 (GRCm39) |
R20L |
probably benign |
Het |
Htr1a |
A |
G |
13: 105,581,455 (GRCm39) |
K232E |
possibly damaging |
Het |
Itgax |
T |
A |
7: 127,747,106 (GRCm39) |
|
probably null |
Het |
Jag2 |
T |
C |
12: 112,880,334 (GRCm39) |
Y310C |
probably damaging |
Het |
Lce1j |
A |
G |
3: 92,696,656 (GRCm39) |
S41P |
unknown |
Het |
Mllt10 |
A |
G |
2: 18,164,294 (GRCm39) |
I197V |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
T |
A |
10: 88,372,243 (GRCm39) |
I796F |
possibly damaging |
Het |
Nr2c1 |
T |
A |
10: 94,007,029 (GRCm39) |
L289* |
probably null |
Het |
Omp |
T |
A |
7: 97,794,283 (GRCm39) |
M115L |
probably benign |
Het |
Pdcd1 |
C |
T |
1: 93,967,106 (GRCm39) |
R264H |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,476,136 (GRCm39) |
F1119L |
probably benign |
Het |
Ralyl |
A |
G |
3: 13,841,938 (GRCm39) |
T25A |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,064,970 (GRCm39) |
T656A |
probably damaging |
Het |
Ripor3 |
C |
T |
2: 167,835,253 (GRCm39) |
|
probably null |
Het |
Samd8 |
T |
C |
14: 21,825,205 (GRCm39) |
S54P |
probably damaging |
Het |
Serpinb9g |
A |
T |
13: 33,670,616 (GRCm39) |
I35F |
probably damaging |
Het |
Shisa8 |
T |
C |
15: 82,096,310 (GRCm39) |
S102G |
probably damaging |
Het |
Slc4a1ap |
T |
A |
5: 31,684,822 (GRCm39) |
S153T |
probably damaging |
Het |
Slc4a4 |
T |
A |
5: 89,376,831 (GRCm39) |
D1028E |
probably damaging |
Het |
Slc6a13 |
T |
A |
6: 121,302,012 (GRCm39) |
I198N |
probably damaging |
Het |
Sst |
C |
T |
16: 23,708,592 (GRCm39) |
D80N |
probably benign |
Het |
Synj2 |
A |
G |
17: 6,026,081 (GRCm39) |
K47E |
probably damaging |
Het |
Tal1 |
C |
T |
4: 114,920,464 (GRCm39) |
P46L |
probably benign |
Het |
Top2b |
A |
T |
14: 16,429,383 (GRCm38) |
N1541I |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,877,736 (GRCm39) |
N2903K |
probably benign |
Het |
Zmat3 |
A |
G |
3: 32,395,644 (GRCm39) |
Y288H |
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 |
R6530:Zfp949
|
UTSW |
9 |
88,449,340 (GRCm39) |
critical splice donor site |
probably null |
|
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'- ACCTTTCCCAGTGAATTAGACA -3'
(R):5'- GGTTTGACTTCTGTGAAAAGGT -3'
Sequencing Primer
(F):5'- GACATTATAGAACATCAGAGGACAC -3'
(R):5'- ACTGCATGCATAGGGCTTC -3'
|
Posted On |
2018-09-12 |