Incidental Mutation 'IGL02037:Zfp946'
| ID |
184537 |
| 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 # |
IGL02037
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
22643203-22675670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22672469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 23
(S23P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088763]
[ENSMUST00000120222]
[ENSMUST00000167740]
|
| AlphaFold |
F6VWU8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088763
AA Change: S23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: S23P
| 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 |
probably damaging
Transcript: ENSMUST00000120222
AA Change: S23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: S23P
| 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 |
probably damaging
Transcript: ENSMUST00000167740
AA Change: S23P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: S23P
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
A |
6: 92,804,997 (GRCm39) |
|
probably benign |
Het |
| Ace2 |
T |
A |
X: 162,946,996 (GRCm39) |
V293D |
probably damaging |
Het |
| Adgrg6 |
T |
C |
10: 14,317,185 (GRCm39) |
Y545C |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,376,742 (GRCm39) |
T293A |
probably damaging |
Het |
| Arhgef19 |
A |
G |
4: 140,973,707 (GRCm39) |
T65A |
probably damaging |
Het |
| Brf1 |
A |
G |
12: 112,956,682 (GRCm39) |
|
probably null |
Het |
| Cbfb |
T |
C |
8: 105,905,252 (GRCm39) |
S65P |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,576 (GRCm39) |
S604P |
possibly damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,191,643 (GRCm39) |
V271A |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,371,263 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,038,559 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,007 (GRCm39) |
T492A |
probably benign |
Het |
| Fam3a |
G |
A |
X: 73,430,241 (GRCm39) |
T156I |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,229,087 (GRCm39) |
C708S |
probably damaging |
Het |
| Fgf5 |
G |
A |
5: 98,409,831 (GRCm39) |
G127R |
probably damaging |
Het |
| Fhip1a |
T |
G |
3: 85,637,939 (GRCm39) |
K120T |
probably damaging |
Het |
| Fn3k |
A |
T |
11: 121,325,909 (GRCm39) |
Y32F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,338,118 (GRCm39) |
I137T |
probably benign |
Het |
| Hc |
T |
C |
2: 34,903,531 (GRCm39) |
D1041G |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,655,708 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
G |
A |
13: 42,309,553 (GRCm39) |
A598T |
probably benign |
Het |
| Ifngr1 |
T |
C |
10: 19,483,007 (GRCm39) |
S254P |
probably benign |
Het |
| Kel |
T |
C |
6: 41,674,408 (GRCm39) |
S341G |
probably benign |
Het |
| Klra6 |
A |
C |
6: 129,990,439 (GRCm39) |
M224R |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,183,522 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
C |
T |
19: 12,440,660 (GRCm39) |
T706I |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Or5al7 |
G |
T |
2: 85,993,181 (GRCm39) |
F37L |
probably benign |
Het |
| Palld |
T |
C |
8: 61,978,148 (GRCm39) |
R881G |
probably damaging |
Het |
| Pdha2 |
A |
T |
3: 140,916,662 (GRCm39) |
V282E |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,654,065 (GRCm39) |
R46Q |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,068,122 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,479 (GRCm39) |
T527A |
probably benign |
Het |
| Rplp0 |
G |
A |
5: 115,699,174 (GRCm39) |
R73Q |
probably benign |
Het |
| Smco3 |
A |
G |
6: 136,808,197 (GRCm39) |
*226R |
probably null |
Het |
| Sugp2 |
T |
C |
8: 70,712,324 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,846,098 (GRCm39) |
I343V |
probably benign |
Het |
| Ube2q2 |
A |
G |
9: 55,075,502 (GRCm39) |
K104E |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,925,506 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
C |
X: 20,585,381 (GRCm39) |
I785T |
probably damaging |
Het |
| Vmn2r22 |
A |
T |
6: 123,626,026 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp281 |
T |
C |
1: 136,555,185 (GRCm39) |
V721A |
possibly damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,594,694 (GRCm39) |
V766A |
probably damaging |
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 |
|
IGL03111:Zfp946
|
APN |
17 |
22,673,537 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
2014-05-07 |
Incidental Mutation