Incidental Mutation 'R6573:Zfp317'
| ID |
523316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp317
|
| Ensembl Gene |
ENSMUSG00000057551 |
| Gene Name |
zinc finger protein 317 |
| Synonyms |
D230022C05Rik, KRAB9, Zfp67, Zfp75 |
| MMRRC Submission |
044697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6573 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
19533398-19561027 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19556550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 53
(S53P)
|
| 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: S142P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000078051
Gene: ENSMUSG00000057551
AA Change: S142P
| 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: S142P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213725
AA Change: S53P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215372
AA Change: S142P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1061 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ceacam5 |
A |
G |
7: 17,447,372 (GRCm39) |
M1V |
probably null |
Het |
| Clstn1 |
A |
G |
4: 149,728,146 (GRCm39) |
T605A |
probably damaging |
Het |
| Cstf2t |
A |
G |
19: 31,061,180 (GRCm39) |
M239V |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,380,838 (GRCm39) |
R1929W |
probably damaging |
Het |
| Edf1 |
G |
T |
2: 25,451,875 (GRCm39) |
R133L |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,971,461 (GRCm39) |
Y129F |
possibly damaging |
Het |
| Entrep1 |
T |
A |
19: 23,965,866 (GRCm39) |
N211I |
probably damaging |
Het |
| Fbxo34 |
A |
T |
14: 47,767,124 (GRCm39) |
L212F |
possibly damaging |
Het |
| Flacc1 |
A |
G |
1: 58,706,003 (GRCm39) |
F289L |
probably benign |
Het |
| Gas2l3 |
C |
A |
10: 89,258,072 (GRCm39) |
|
probably null |
Het |
| Gfod1 |
C |
T |
13: 43,353,841 (GRCm39) |
S378N |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 121,294,536 (GRCm39) |
S288P |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,283 (GRCm39) |
T72S |
probably benign |
Het |
| Hyal5 |
T |
C |
6: 24,891,551 (GRCm39) |
V455A |
probably damaging |
Het |
| Megf9 |
A |
T |
4: 70,406,409 (GRCm39) |
C252* |
probably null |
Het |
| Mrgprg |
T |
C |
7: 143,318,333 (GRCm39) |
K260E |
possibly damaging |
Het |
| Nmi |
T |
A |
2: 51,840,081 (GRCm39) |
K220M |
possibly damaging |
Het |
| Nutm1 |
A |
C |
2: 112,081,388 (GRCm39) |
|
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,670 (GRCm39) |
D89E |
probably benign |
Het |
| Or8k16 |
C |
T |
2: 85,520,343 (GRCm39) |
S190L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,287,359 (GRCm39) |
I34N |
probably damaging |
Het |
| Perm1 |
C |
A |
4: 156,303,130 (GRCm39) |
A558D |
probably damaging |
Het |
| Pgpep1 |
A |
G |
8: 71,103,265 (GRCm39) |
I203T |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,521 (GRCm39) |
G1342C |
probably damaging |
Het |
| Prune2 |
G |
T |
19: 17,098,522 (GRCm39) |
G1342V |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,106 (GRCm39) |
I512F |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,400,110 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,137,094 (GRCm39) |
R107G |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,205,008 (GRCm39) |
Q598* |
probably null |
Het |
| Spata6 |
T |
A |
4: 111,636,476 (GRCm39) |
F256I |
probably damaging |
Het |
| Tnnt1 |
C |
A |
7: 4,517,333 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,027,647 (GRCm39) |
E413K |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,262,487 (GRCm39) |
F214L |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,996 (GRCm39) |
C636Y |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,037,703 (GRCm39) |
N917S |
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 |
|
R2364:Zfp317
|
UTSW |
9 |
19,559,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CTGGACCAGTTCTTTAGCCTG -3'
(R):5'- TAGCACTTGTGAAATTCCTGTTTCC -3'
Sequencing Primer
(F):5'- GACCAGTTCTTTAGCCTGTGGATTC -3'
(R):5'- GAAATTCCTGTTTCCTCTAGTGTATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation