Incidental Mutation 'R5547:Zfp946'
| ID |
436367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp946
|
| Ensembl Gene |
ENSMUSG00000071266 |
| Gene Name |
zinc finger protein 946 |
| Synonyms |
1300003B13Rik |
| MMRRC Submission |
043105-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5547 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
22643203-22675670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22673873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 209
(I209T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088763]
[ENSMUST00000120222]
[ENSMUST00000167740]
|
| AlphaFold |
F6VWU8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088763
AA Change: I209T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086141
Gene: ENSMUSG00000071266
AA Change: I209T
| 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 benign
Transcript: ENSMUST00000120222
AA Change: I209T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113244
Gene: ENSMUSG00000071266
AA Change: I209T
| 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 benign
Transcript: ENSMUST00000167740
AA Change: I209T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132940
Gene: ENSMUSG00000071266
AA Change: I209T
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,661,356 (GRCm39) |
S492P |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,231,201 (GRCm39) |
D1133E |
probably damaging |
Het |
| Avpi1 |
T |
C |
19: 42,113,382 (GRCm39) |
K25R |
probably damaging |
Het |
| Bank1 |
T |
C |
3: 135,772,110 (GRCm39) |
S708G |
probably damaging |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,794 (GRCm39) |
E202G |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,837,970 (GRCm39) |
V860E |
probably benign |
Het |
| Cbr1 |
T |
A |
16: 93,406,698 (GRCm39) |
V138E |
probably damaging |
Het |
| Cdip1 |
A |
G |
16: 4,587,988 (GRCm39) |
S2P |
probably damaging |
Het |
| Cep126 |
T |
C |
9: 8,100,428 (GRCm39) |
N702S |
probably damaging |
Het |
| Chek1 |
T |
C |
9: 36,623,400 (GRCm39) |
I381V |
probably benign |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cryz |
C |
T |
3: 154,317,194 (GRCm39) |
R138* |
probably null |
Het |
| Ctsll3 |
T |
A |
13: 60,948,551 (GRCm39) |
M103L |
probably benign |
Het |
| Daxx |
TGATGATGACGATGATGACGATGATGA |
TGATGATGACGATGATGA |
17: 34,131,615 (GRCm39) |
|
probably benign |
Het |
| Daxx |
CGATGATGATGA |
CGA |
17: 34,131,633 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
G |
18: 20,469,097 (GRCm39) |
|
probably null |
Het |
| Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,591,948 (GRCm39) |
S505C |
probably damaging |
Het |
| Gpr161 |
C |
A |
1: 165,133,982 (GRCm39) |
F81L |
possibly damaging |
Het |
| H2-T15 |
G |
A |
17: 36,368,796 (GRCm39) |
H95Y |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,613,257 (GRCm39) |
V1390A |
possibly damaging |
Het |
| Ifi44l |
C |
T |
3: 151,467,142 (GRCm39) |
V63I |
unknown |
Het |
| Klhl3 |
C |
T |
13: 58,250,243 (GRCm39) |
|
probably null |
Het |
| Lekr1 |
T |
A |
3: 65,576,601 (GRCm39) |
|
probably null |
Het |
| Lhx5 |
A |
G |
5: 120,572,675 (GRCm39) |
Q98R |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,879,330 (GRCm39) |
K681E |
possibly damaging |
Het |
| Numa1 |
G |
T |
7: 101,663,137 (GRCm39) |
A735S |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,884,598 (GRCm39) |
L446Q |
probably benign |
Het |
| Or5ac19 |
G |
A |
16: 59,089,479 (GRCm39) |
L184F |
probably benign |
Het |
| Otogl |
C |
T |
10: 107,617,909 (GRCm39) |
E1735K |
possibly damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,729,488 (GRCm39) |
D119G |
probably benign |
Het |
| Pgpep1 |
T |
C |
8: 71,105,069 (GRCm39) |
K64E |
probably benign |
Het |
| Prr19 |
A |
C |
7: 25,003,388 (GRCm39) |
D334A |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,557,221 (GRCm39) |
S691* |
probably null |
Het |
| Recql4 |
G |
A |
15: 76,589,994 (GRCm39) |
R684* |
probably null |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rnf40 |
T |
C |
7: 127,188,302 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,963,468 (GRCm39) |
V1062A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,481,887 (GRCm39) |
D696G |
possibly damaging |
Het |
| Tdo2 |
T |
C |
3: 81,866,247 (GRCm39) |
R339G |
probably damaging |
Het |
| Tmem245 |
C |
T |
4: 56,910,156 (GRCm39) |
|
probably null |
Het |
| Trim24 |
A |
G |
6: 37,942,485 (GRCm39) |
E965G |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,156 (GRCm39) |
S103P |
probably damaging |
Het |
| Trpv6 |
A |
T |
6: 41,613,088 (GRCm39) |
V26D |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,688,844 (GRCm39) |
C455R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,406 (GRCm39) |
N131S |
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 |
|
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 |
|
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'- ACTGGAAACATCAGAGAACCTTG -3'
(R):5'- TTCAGGGTAAAGCATTTGCCAC -3'
Sequencing Primer
(F):5'- TCATTAGTCTAAATCAAGGAATCCAC -3'
(R):5'- GCCACATGCATTACATTTGTAAGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation