Incidental Mutation 'R4006:Zfp317'
| ID |
311481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp317
|
| Ensembl Gene |
ENSMUSG00000057551 |
| Gene Name |
zinc finger protein 317 |
| Synonyms |
D230022C05Rik, KRAB9, Zfp67, Zfp75 |
| MMRRC Submission |
040845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4006 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
19533398-19561027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 19559333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Glycine
at position 516
(W516G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079042]
[ENSMUST00000208694]
[ENSMUST00000213725]
[ENSMUST00000215372]
|
| AlphaFold |
Q8C0Q5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079042
AA Change: W605G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000078051
Gene: ENSMUSG00000057551
AA Change: W605G
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
60 |
120 |
4.58e-32 |
SMART |
|
ZnF_C2H2
|
223 |
245 |
1.79e-2 |
SMART |
|
ZnF_C2H2
|
251 |
273 |
6.88e-4 |
SMART |
|
ZnF_C2H2
|
279 |
301 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
307 |
329 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
335 |
357 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
363 |
385 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
391 |
413 |
1.3e-4 |
SMART |
|
ZnF_C2H2
|
419 |
441 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
447 |
469 |
3.34e-2 |
SMART |
|
ZnF_C2H2
|
475 |
497 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
503 |
525 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
531 |
553 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
559 |
581 |
1.72e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208694
AA Change: W605G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213725
AA Change: W516G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215372
AA Change: W605G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
A |
G |
10: 61,038,600 (GRCm39) |
|
probably null |
Het |
| Ano4 |
C |
A |
10: 88,924,125 (GRCm39) |
V329L |
probably benign |
Het |
| Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
| Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
| Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
| Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
| Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
| Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
| Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,478 (GRCm39) |
D181V |
probably damaging |
Het |
| Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
| Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
| Or5e1 |
C |
T |
7: 108,354,468 (GRCm39) |
T135I |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
| Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
| Ppp1r37 |
A |
G |
7: 19,268,994 (GRCm39) |
S169P |
probably damaging |
Het |
| Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
| Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
| Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
| Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
| Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
| Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
| Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
| Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
| Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
| Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
| Zfp974 |
G |
A |
7: 27,611,677 (GRCm39) |
T16I |
possibly damaging |
Het |
|
| Other mutations in Zfp317 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02425:Zfp317
|
APN |
9 |
19,554,909 (GRCm39) |
nonsense |
probably null |
|
|
R1520:Zfp317
|
UTSW |
9 |
19,559,144 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1646:Zfp317
|
UTSW |
9 |
19,558,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Zfp317
|
UTSW |
9 |
19,553,280 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2029:Zfp317
|
UTSW |
9 |
19,556,532 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2364:Zfp317
|
UTSW |
9 |
19,559,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4031:Zfp317
|
UTSW |
9 |
19,558,008 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4293:Zfp317
|
UTSW |
9 |
19,557,990 (GRCm39) |
splice site |
probably null |
|
|
R4897:Zfp317
|
UTSW |
9 |
19,558,143 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5593:Zfp317
|
UTSW |
9 |
19,558,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Zfp317
|
UTSW |
9 |
19,558,184 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6573:Zfp317
|
UTSW |
9 |
19,556,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6652:Zfp317
|
UTSW |
9 |
19,558,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Zfp317
|
UTSW |
9 |
19,559,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Zfp317
|
UTSW |
9 |
19,554,961 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7688:Zfp317
|
UTSW |
9 |
19,559,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Zfp317
|
UTSW |
9 |
19,553,265 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8900:Zfp317
|
UTSW |
9 |
19,558,708 (GRCm39) |
nonsense |
probably null |
|
|
R8927:Zfp317
|
UTSW |
9 |
19,552,521 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8928:Zfp317
|
UTSW |
9 |
19,552,521 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9052:Zfp317
|
UTSW |
9 |
19,556,568 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9176:Zfp317
|
UTSW |
9 |
19,559,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Zfp317
|
UTSW |
9 |
19,558,442 (GRCm39) |
nonsense |
probably null |
|
|
R9212:Zfp317
|
UTSW |
9 |
19,558,442 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Zfp317
|
UTSW |
9 |
19,558,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAACCTTAATGTACACCGGAG -3'
(R):5'- GAAGACTCTCTGCCTCAGTTC -3'
Sequencing Primer
(F):5'- CGGAGGATCCATACGGGG -3'
(R):5'- GGAGCATGATACATGTTGACAGTTTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation