Incidental Mutation 'IGL03201:Zfp949'
ID |
412981 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zfp949
|
Ensembl Gene |
ENSMUSG00000032425 |
Gene Name |
zinc finger protein 949 |
Synonyms |
4930422I07Rik, Nczf |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL03201
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
88430073-88453114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 88450717 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 96
(R96G)
|
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 benign
Transcript: ENSMUST00000161458
AA Change: R96G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125017 Gene: ENSMUSG00000032425 AA Change: R96G
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 benign
Transcript: ENSMUST00000162827
AA Change: R96G
PolyPhen 2
Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000125325 Gene: ENSMUSG00000032425 AA Change: R96G
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 |
|
Coding Region Coverage |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,468 (GRCm39) |
E105G |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,429 (GRCm39) |
D757G |
probably damaging |
Het |
Arpc3 |
A |
T |
5: 122,539,781 (GRCm39) |
I45F |
probably damaging |
Het |
C3 |
C |
A |
17: 57,529,249 (GRCm39) |
V597L |
probably damaging |
Het |
Ccdc181 |
A |
G |
1: 164,108,213 (GRCm39) |
N299D |
probably benign |
Het |
Cdr1 |
T |
A |
X: 60,229,154 (GRCm39) |
Q4L |
unknown |
Het |
Cep170 |
G |
A |
1: 176,564,454 (GRCm39) |
S1464F |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,030,557 (GRCm39) |
Y826H |
probably damaging |
Het |
Chic2 |
A |
G |
5: 75,171,954 (GRCm39) |
|
probably benign |
Het |
Chrne |
T |
C |
11: 70,509,338 (GRCm39) |
H81R |
probably benign |
Het |
Clec4e |
A |
G |
6: 123,260,599 (GRCm39) |
I153T |
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,272,300 (GRCm39) |
D699V |
unknown |
Het |
Cul3 |
T |
G |
1: 80,259,144 (GRCm39) |
S379R |
probably damaging |
Het |
Cyp3a11 |
T |
A |
5: 145,797,189 (GRCm39) |
I397F |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,022,906 (GRCm39) |
K1077R |
probably benign |
Het |
Dnajc18 |
A |
G |
18: 35,813,972 (GRCm39) |
S266P |
probably benign |
Het |
Dydc1 |
T |
G |
14: 40,800,647 (GRCm39) |
L74R |
probably damaging |
Het |
Echdc2 |
G |
T |
4: 108,027,067 (GRCm39) |
A71S |
possibly damaging |
Het |
Fer1l4 |
T |
A |
2: 155,886,650 (GRCm39) |
D693V |
probably benign |
Het |
Fscn3 |
T |
C |
6: 28,430,604 (GRCm39) |
V258A |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,869,516 (GRCm39) |
I4255N |
probably damaging |
Het |
Il1rl2 |
A |
G |
1: 40,382,200 (GRCm39) |
I171V |
possibly damaging |
Het |
Ino80d |
G |
T |
1: 63,097,467 (GRCm39) |
T809K |
probably damaging |
Het |
Lama2 |
A |
T |
10: 27,220,566 (GRCm39) |
L433* |
probably null |
Het |
Nlrp9c |
A |
T |
7: 26,084,533 (GRCm39) |
S349T |
probably benign |
Het |
Parp11 |
T |
C |
6: 127,466,981 (GRCm39) |
I124T |
possibly damaging |
Het |
Parp8 |
A |
T |
13: 116,999,605 (GRCm39) |
|
probably benign |
Het |
Pgm1 |
T |
C |
4: 99,827,236 (GRCm39) |
F379L |
probably damaging |
Het |
Phf21b |
T |
C |
15: 84,671,448 (GRCm39) |
H482R |
probably benign |
Het |
Phka1 |
A |
C |
X: 101,584,716 (GRCm39) |
|
probably null |
Het |
Plekhh1 |
T |
C |
12: 79,100,430 (GRCm39) |
W133R |
probably damaging |
Het |
Polr2a |
A |
C |
11: 69,636,516 (GRCm39) |
L405* |
probably null |
Het |
Prrg3 |
T |
A |
X: 71,010,108 (GRCm39) |
V3E |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,551,648 (GRCm39) |
K484E |
probably damaging |
Het |
Rcbtb1 |
T |
C |
14: 59,460,727 (GRCm39) |
L230P |
probably damaging |
Het |
Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
Ssbp2 |
T |
C |
13: 91,672,720 (GRCm39) |
Y27H |
probably damaging |
Het |
Sult2a4 |
A |
G |
7: 13,665,692 (GRCm39) |
V157A |
probably damaging |
Het |
Tbx15 |
G |
A |
3: 99,259,296 (GRCm39) |
S389N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,671,424 (GRCm39) |
|
probably benign |
Het |
Ube2n |
T |
C |
10: 95,378,127 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
G |
A |
5: 149,505,352 (GRCm39) |
|
probably null |
Het |
Wsb2 |
T |
C |
5: 117,514,620 (GRCm39) |
S298P |
possibly damaging |
Het |
Zc3h7a |
T |
C |
16: 10,974,166 (GRCm39) |
|
probably null |
Het |
Zfat |
A |
G |
15: 68,037,758 (GRCm39) |
C906R |
probably damaging |
Het |
Zfp747 |
G |
A |
7: 126,973,180 (GRCm39) |
T330I |
probably damaging |
Het |
|
Other mutations in Zfp949 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2016-08-02 |