Incidental Mutation 'R4493:Zfp946'
| ID |
377825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp946
|
| Ensembl Gene |
ENSMUSG00000071266 |
| Gene Name |
zinc finger protein 946 |
| Synonyms |
1300003B13Rik |
| MMRRC Submission |
041748-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4493 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
22643203-22675670 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 22670067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113244
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088763]
[ENSMUST00000120222]
[ENSMUST00000167740]
|
| AlphaFold |
F6VWU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088763
|
| SMART Domains |
Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
| 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 null
Transcript: ENSMUST00000120222
|
| SMART Domains |
Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
| 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 |
noncoding transcript
Transcript: ENSMUST00000141831
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167740
|
| SMART Domains |
Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
94% (45/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,508,191 (GRCm39) |
E619G |
possibly damaging |
Het |
| Cfap91 |
T |
C |
16: 38,162,130 (GRCm39) |
T4A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cngb3 |
C |
A |
4: 19,367,778 (GRCm39) |
P229Q |
probably damaging |
Het |
| Ctnna2 |
A |
G |
6: 76,958,831 (GRCm39) |
V461A |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,684 (GRCm39) |
D764G |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,951,796 (GRCm39) |
|
probably benign |
Het |
| Dhx36 |
A |
T |
3: 62,395,925 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,732,203 (GRCm39) |
I1006T |
probably benign |
Het |
| Glt8d2 |
T |
A |
10: 82,500,547 (GRCm39) |
M20L |
possibly damaging |
Het |
| Greb1 |
C |
A |
12: 16,748,611 (GRCm39) |
G1122V |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,577,650 (GRCm39) |
I2037N |
probably damaging |
Het |
| Hspa4l |
A |
G |
3: 40,722,434 (GRCm39) |
I340V |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,323,586 (GRCm39) |
K1204E |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,681,752 (GRCm39) |
C296* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naga |
A |
G |
15: 82,216,715 (GRCm39) |
F259S |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,087,644 (GRCm39) |
Y609F |
possibly damaging |
Het |
| Pgam1 |
C |
T |
19: 41,904,215 (GRCm39) |
A104V |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,247,134 (GRCm39) |
I525V |
probably damaging |
Het |
| Pold1 |
A |
G |
7: 44,187,132 (GRCm39) |
V683A |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,970,125 (GRCm39) |
V316A |
possibly damaging |
Het |
| Ppih |
A |
T |
4: 119,168,042 (GRCm39) |
N156K |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rtp4 |
A |
T |
16: 23,428,827 (GRCm39) |
H30L |
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
| Syt6 |
A |
G |
3: 103,492,946 (GRCm39) |
E66G |
probably damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,767,858 (GRCm39) |
V2605A |
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,066,863 (GRCm39) |
N17K |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly 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 |
|
IGL02037:Zfp946
|
APN |
17 |
22,672,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACTGTACTCATTTTCCAAGCTTC -3'
(R):5'- GCTGTGCTTGTCCCATTATAAG -3'
Sequencing Primer
(F):5'- AGCTTCACTTAATATCTCATTCCATG -3'
(R):5'- GCTTGTCCCATTATAAGTGAAAAATC -3'
|
| Posted On |
2016-04-11 |
Incidental Mutation