Incidental Mutation 'IGL03111:Zfp946'
| ID |
419176 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp946
|
| Ensembl Gene |
ENSMUSG00000071266 |
| Gene Name |
zinc finger protein 946 |
| Synonyms |
1300003B13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL03111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
22643203-22675670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22673537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 97
(H97R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088763]
[ENSMUST00000120222]
[ENSMUST00000167740]
|
| AlphaFold |
F6VWU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088763
AA Change: H97R
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: H97R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
71 |
4.49e-17 |
SMART |
|
ZnF_C2H2
|
186 |
208 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
1.5e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120222
AA Change: H97R
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: H97R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
71 |
4.49e-17 |
SMART |
|
ZnF_C2H2
|
186 |
208 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
1.5e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167740
AA Change: H97R
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: H97R
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
13 |
71 |
4.49e-17 |
SMART |
|
ZnF_C2H2
|
186 |
208 |
3.83e-2 |
SMART |
|
ZnF_C2H2
|
242 |
264 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
270 |
292 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
298 |
320 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
326 |
348 |
2.15e-5 |
SMART |
|
ZnF_C2H2
|
354 |
376 |
2.4e-3 |
SMART |
|
ZnF_C2H2
|
382 |
404 |
1.28e-3 |
SMART |
|
ZnF_C2H2
|
410 |
432 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
438 |
460 |
9.44e-2 |
SMART |
|
ZnF_C2H2
|
466 |
488 |
3.44e-4 |
SMART |
|
ZnF_C2H2
|
494 |
516 |
1.5e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,040 (GRCm39) |
D523G |
probably benign |
Het |
| Alkbh1 |
A |
C |
12: 87,480,907 (GRCm39) |
H176Q |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,086,740 (GRCm39) |
A193T |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,684 (GRCm39) |
S492P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,701,613 (GRCm39) |
T164I |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,692 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Clybl |
C |
T |
14: 122,639,395 (GRCm39) |
P320S |
probably damaging |
Het |
| Cpne9 |
T |
C |
6: 113,277,571 (GRCm39) |
I430T |
possibly damaging |
Het |
| Cyc1 |
T |
G |
15: 76,229,072 (GRCm39) |
S113A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,066 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,462,910 (GRCm39) |
D489G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,473,809 (GRCm39) |
D15G |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,370,767 (GRCm39) |
F933L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,816 (GRCm39) |
D856E |
possibly damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,844 (GRCm39) |
D208V |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,171,988 (GRCm39) |
S719R |
probably benign |
Het |
| Ldhd |
A |
C |
8: 112,353,797 (GRCm39) |
C439G |
probably damaging |
Het |
| Lipo3 |
C |
T |
19: 33,559,637 (GRCm39) |
V78I |
probably damaging |
Het |
| Mterf2 |
A |
T |
10: 84,955,786 (GRCm39) |
Y279* |
probably null |
Het |
| Myo9a |
G |
T |
9: 59,734,526 (GRCm39) |
A703S |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,465,745 (GRCm39) |
T76S |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,330,816 (GRCm39) |
L859Q |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,353,978 (GRCm38) |
|
noncoding transcript |
Het |
| Or1s2 |
T |
A |
19: 13,758,343 (GRCm39) |
Y122* |
probably null |
Het |
| Or51g2 |
G |
A |
7: 102,622,738 (GRCm39) |
R154C |
probably damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,947 (GRCm39) |
T149I |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,169,788 (GRCm39) |
K113M |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,202 (GRCm39) |
Y823N |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,653 (GRCm39) |
I856V |
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,755 (GRCm39) |
S180T |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,921 (GRCm39) |
N169I |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,833,608 (GRCm39) |
T996A |
probably damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,149,998 (GRCm39) |
Y91H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,049,369 (GRCm39) |
Y772C |
probably damaging |
Het |
| Thbd |
T |
A |
2: 148,248,392 (GRCm39) |
E492V |
probably benign |
Het |
| Thra |
A |
G |
11: 98,651,855 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,867,225 (GRCm39) |
S403P |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,356,063 (GRCm39) |
S444P |
probably benign |
Het |
|
| Other mutations in Zfp946 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Zfp946
|
APN |
17 |
22,673,643 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01869:Zfp946
|
APN |
17 |
22,673,684 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02037:Zfp946
|
APN |
17 |
22,672,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0324:Zfp946
|
UTSW |
17 |
22,673,417 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1252:Zfp946
|
UTSW |
17 |
22,672,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1733:Zfp946
|
UTSW |
17 |
22,672,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Zfp946
|
UTSW |
17 |
22,674,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Zfp946
|
UTSW |
17 |
22,674,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Zfp946
|
UTSW |
17 |
22,672,466 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2216:Zfp946
|
UTSW |
17 |
22,673,697 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3899:Zfp946
|
UTSW |
17 |
22,673,531 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3924:Zfp946
|
UTSW |
17 |
22,674,682 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4125:Zfp946
|
UTSW |
17 |
22,673,548 (GRCm39) |
nonsense |
probably null |
|
|
R4493:Zfp946
|
UTSW |
17 |
22,670,067 (GRCm39) |
splice site |
probably null |
|
|
R4694:Zfp946
|
UTSW |
17 |
22,674,692 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4924:Zfp946
|
UTSW |
17 |
22,674,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Zfp946
|
UTSW |
17 |
22,674,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Zfp946
|
UTSW |
17 |
22,674,584 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5248:Zfp946
|
UTSW |
17 |
22,673,447 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5547:Zfp946
|
UTSW |
17 |
22,673,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5551:Zfp946
|
UTSW |
17 |
22,674,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Zfp946
|
UTSW |
17 |
22,673,676 (GRCm39) |
nonsense |
probably null |
|
|
R6048:Zfp946
|
UTSW |
17 |
22,673,821 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6080:Zfp946
|
UTSW |
17 |
22,674,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6198:Zfp946
|
UTSW |
17 |
22,673,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Zfp946
|
UTSW |
17 |
22,673,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6766:Zfp946
|
UTSW |
17 |
22,674,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7132:Zfp946
|
UTSW |
17 |
22,673,644 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7248:Zfp946
|
UTSW |
17 |
22,672,489 (GRCm39) |
nonsense |
probably null |
|
|
R7695:Zfp946
|
UTSW |
17 |
22,674,002 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8113:Zfp946
|
UTSW |
17 |
22,674,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Zfp946
|
UTSW |
17 |
22,673,680 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9408:Zfp946
|
UTSW |
17 |
22,673,569 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0065:Zfp946
|
UTSW |
17 |
22,674,494 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2016-08-02 |
Incidental Mutation