Incidental Mutation 'R2364:Zfp317'
ID |
247276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp317
|
Ensembl Gene |
ENSMUSG00000057551 |
Gene Name |
zinc finger protein 317 |
Synonyms |
D230022C05Rik, KRAB9, Zfp67, Zfp75 |
MMRRC Submission |
040345-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R2364 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
19533398-19561027 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19559031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 415
(D415G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151161
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079042]
[ENSMUST00000208694]
[ENSMUST00000213725]
[ENSMUST00000215372]
|
AlphaFold |
Q8C0Q5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079042
AA Change: D504G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000078051 Gene: ENSMUSG00000057551 AA Change: D504G
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 |
probably benign
Transcript: ENSMUST00000208694
AA Change: D504G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213725
AA Change: D415G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215372
AA Change: D504G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
A |
G |
3: 137,871,584 (GRCm39) |
S268P |
probably benign |
Het |
Adam6a |
A |
G |
12: 113,508,250 (GRCm39) |
K208E |
probably benign |
Het |
Anks6 |
A |
G |
4: 47,027,248 (GRCm39) |
S725P |
possibly damaging |
Het |
Asb3 |
A |
G |
11: 31,051,192 (GRCm39) |
I549V |
probably benign |
Het |
Blvrb |
A |
G |
7: 27,147,558 (GRCm39) |
I6V |
possibly damaging |
Het |
Cabs1 |
A |
T |
5: 88,128,092 (GRCm39) |
T248S |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,279,046 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Fpr1 |
A |
T |
17: 18,097,872 (GRCm39) |
L39* |
probably null |
Het |
Gstm5 |
A |
G |
3: 107,803,687 (GRCm39) |
E40G |
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,054,640 (GRCm39) |
M97V |
possibly damaging |
Het |
Hs6st1 |
T |
C |
1: 36,107,800 (GRCm39) |
V21A |
probably benign |
Het |
Hsp90aa1 |
A |
T |
12: 110,659,187 (GRCm39) |
F537I |
probably damaging |
Het |
Insr |
T |
C |
8: 3,224,820 (GRCm39) |
D216G |
probably benign |
Het |
Kif2a |
A |
T |
13: 107,113,344 (GRCm39) |
N428K |
probably damaging |
Het |
Mapk10 |
G |
T |
5: 103,186,507 (GRCm39) |
N38K |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,185,344 (GRCm39) |
E865G |
probably benign |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,577 (GRCm39) |
Y252H |
probably damaging |
Het |
Or4k6 |
A |
T |
14: 50,475,612 (GRCm39) |
H243Q |
probably damaging |
Het |
Or5b104 |
A |
G |
19: 13,072,118 (GRCm39) |
V298A |
probably damaging |
Het |
Os9 |
T |
A |
10: 126,955,007 (GRCm39) |
K180N |
possibly damaging |
Het |
Pcdhb20 |
A |
T |
18: 37,638,991 (GRCm39) |
I506F |
probably damaging |
Het |
Pros1 |
T |
G |
16: 62,734,211 (GRCm39) |
L339R |
probably damaging |
Het |
Srp72 |
A |
G |
5: 77,132,209 (GRCm39) |
I266V |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,899,391 (GRCm39) |
V632A |
probably damaging |
Het |
Tpcn1 |
G |
T |
5: 120,691,559 (GRCm39) |
C298* |
probably null |
Het |
Ubfd1 |
T |
A |
7: 121,668,167 (GRCm39) |
D232E |
probably benign |
Het |
Vamp1 |
A |
T |
6: 125,217,306 (GRCm39) |
I117L |
probably benign |
Het |
Wwtr1 |
T |
C |
3: 57,370,024 (GRCm39) |
T364A |
possibly damaging |
Het |
Zbtb47 |
C |
T |
9: 121,596,660 (GRCm39) |
P672L |
probably damaging |
Het |
Zfp143 |
C |
A |
7: 109,682,449 (GRCm39) |
T339K |
probably damaging |
Het |
Zfp628 |
A |
G |
7: 4,923,686 (GRCm39) |
H636R |
probably 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 |
R4006:Zfp317
|
UTSW |
9 |
19,559,333 (GRCm39) |
missense |
possibly damaging |
0.82 |
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'- CTGTGATCTCTGCGGCAAAG -3'
(R):5'- GTGGGTTTTCACATGACTCCTAAG -3'
Sequencing Primer
(F):5'- GGCAAAGCCTTCAGTGCTAGTTC -3'
(R):5'- GTTTTCACATGACTCCTAAGGGACG -3'
|
Posted On |
2014-10-30 |