Incidental Mutation 'R5345:Zfp647'
| ID |
422582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| MMRRC Submission |
042924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5345 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76794571-76809648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76795695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 322
(T322S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048854]
[ENSMUST00000229055]
[ENSMUST00000229865]
|
| AlphaFold |
Q7TNU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048854
AA Change: T322S
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: T322S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
KRAB
|
17 |
77 |
7.05e-33 |
SMART |
|
ZnF_C2H2
|
174 |
196 |
3.39e-3 |
SMART |
|
ZnF_C2H2
|
202 |
224 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
230 |
252 |
2.95e-3 |
SMART |
|
ZnF_C2H2
|
258 |
280 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
286 |
308 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
314 |
336 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
342 |
364 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.6e-4 |
SMART |
|
ZnF_C2H2
|
398 |
420 |
2.2e-2 |
SMART |
|
ZnF_C2H2
|
426 |
448 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
454 |
476 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
482 |
504 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
510 |
532 |
9.08e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229055
AA Change: T322S
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229865
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
A |
2: 31,687,059 (GRCm39) |
S519T |
probably damaging |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acot1 |
T |
A |
12: 84,063,942 (GRCm39) |
I350N |
probably damaging |
Het |
| Adam8 |
A |
G |
7: 139,567,552 (GRCm39) |
V397A |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,709,310 (GRCm39) |
M735T |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,633,497 (GRCm39) |
|
probably null |
Het |
| Cdc25b |
A |
G |
2: 131,034,516 (GRCm39) |
S222G |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,709,323 (GRCm39) |
S1390P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,676,222 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,949,773 (GRCm39) |
T320A |
probably benign |
Het |
| Cspg5 |
A |
T |
9: 110,075,698 (GRCm39) |
M145L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,614,676 (GRCm39) |
I284F |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,985,947 (GRCm39) |
I565V |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,688,471 (GRCm39) |
N410S |
probably damaging |
Het |
| Gabrb2 |
C |
T |
11: 42,517,636 (GRCm39) |
A448V |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,402,037 (GRCm39) |
D375G |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,722,783 (GRCm39) |
V1073A |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,613,078 (GRCm39) |
T139A |
probably benign |
Het |
| L1td1 |
G |
A |
4: 98,624,684 (GRCm39) |
G293D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,558 (GRCm39) |
M2873V |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,514 (GRCm39) |
W77R |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,388,364 (GRCm39) |
R1960G |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,367,369 (GRCm39) |
|
probably null |
Het |
| Ndufb4 |
A |
G |
16: 37,474,540 (GRCm39) |
|
probably null |
Het |
| Nup153 |
A |
T |
13: 46,840,341 (GRCm39) |
L1089* |
probably null |
Het |
| Or10g3 |
G |
A |
14: 52,609,725 (GRCm39) |
R262* |
probably null |
Het |
| Or2l13b |
T |
A |
16: 19,349,527 (GRCm39) |
I48F |
probably damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,901,836 (GRCm39) |
V214A |
possibly damaging |
Het |
| P2rx1 |
A |
G |
11: 72,900,056 (GRCm39) |
T158A |
probably damaging |
Het |
| Park7 |
A |
G |
4: 150,992,880 (GRCm39) |
|
probably benign |
Het |
| Parl |
A |
T |
16: 20,116,892 (GRCm39) |
F102I |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,685,831 (GRCm39) |
H720L |
probably benign |
Het |
| Ptpn4 |
A |
G |
1: 119,693,207 (GRCm39) |
S140P |
probably benign |
Het |
| Rel |
A |
G |
11: 23,692,462 (GRCm39) |
S524P |
probably benign |
Het |
| Ripply2 |
A |
G |
9: 86,901,779 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
C |
T |
18: 12,312,234 (GRCm39) |
T158M |
probably benign |
Het |
| Rps4l-ps |
T |
C |
7: 114,526,433 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4ip1 |
T |
C |
10: 43,808,466 (GRCm39) |
L81P |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,781,251 (GRCm39) |
L138P |
probably benign |
Het |
| Scp2 |
A |
T |
4: 107,912,776 (GRCm39) |
|
probably null |
Het |
| Sec24c |
T |
A |
14: 20,743,288 (GRCm39) |
M970K |
probably benign |
Het |
| Setd5 |
C |
T |
6: 113,092,968 (GRCm39) |
P340L |
probably damaging |
Het |
| Sgcg |
A |
T |
14: 61,483,218 (GRCm39) |
M61K |
probably damaging |
Het |
| Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 55,548,331 (GRCm39) |
R21G |
probably benign |
Het |
| Slc7a14 |
A |
C |
3: 31,278,006 (GRCm39) |
L533W |
probably damaging |
Het |
| Srsf9 |
A |
G |
5: 115,468,595 (GRCm39) |
D77G |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,034,014 (GRCm39) |
E119V |
possibly damaging |
Het |
| Tcstv5 |
A |
T |
13: 120,411,384 (GRCm39) |
V74E |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,113 (GRCm39) |
A757V |
possibly damaging |
Het |
| Tradd |
A |
T |
8: 105,986,556 (GRCm39) |
I72N |
probably damaging |
Het |
| Trbv12-1 |
C |
T |
6: 41,090,781 (GRCm39) |
T51M |
probably benign |
Het |
| Tsga10 |
T |
C |
1: 37,802,392 (GRCm39) |
K605E |
probably damaging |
Het |
| Vwc2l |
A |
G |
1: 70,768,077 (GRCm39) |
D47G |
probably damaging |
Het |
| Zscan20 |
A |
C |
4: 128,481,914 (GRCm39) |
S583A |
probably benign |
Het |
|
| Other mutations in Zfp647 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Zfp647
|
APN |
15 |
76,795,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL01680:Zfp647
|
APN |
15 |
76,801,968 (GRCm39) |
splice site |
probably benign |
|
|
IGL02647:Zfp647
|
APN |
15 |
76,801,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03213:Zfp647
|
APN |
15 |
76,796,177 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03401:Zfp647
|
APN |
15 |
76,795,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0418:Zfp647
|
UTSW |
15 |
76,795,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Zfp647
|
UTSW |
15 |
76,795,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1913:Zfp647
|
UTSW |
15 |
76,796,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1959:Zfp647
|
UTSW |
15 |
76,795,314 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2176:Zfp647
|
UTSW |
15 |
76,795,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3076:Zfp647
|
UTSW |
15 |
76,802,209 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3077:Zfp647
|
UTSW |
15 |
76,802,209 (GRCm39) |
start codon destroyed |
probably null |
|
|
R3701:Zfp647
|
UTSW |
15 |
76,795,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3702:Zfp647
|
UTSW |
15 |
76,795,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3960:Zfp647
|
UTSW |
15 |
76,795,176 (GRCm39) |
splice site |
probably null |
|
|
R4938:Zfp647
|
UTSW |
15 |
76,795,244 (GRCm39) |
frame shift |
probably null |
|
|
R4939:Zfp647
|
UTSW |
15 |
76,795,244 (GRCm39) |
frame shift |
probably null |
|
|
R5196:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5197:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5415:Zfp647
|
UTSW |
15 |
76,795,593 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5791:Zfp647
|
UTSW |
15 |
76,802,206 (GRCm39) |
missense |
unknown |
|
|
R5942:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5944:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5945:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5946:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5947:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6005:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6007:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6073:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6074:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6101:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6102:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6103:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6126:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6127:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6129:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6136:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6151:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6305:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6306:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6329:Zfp647
|
UTSW |
15 |
76,796,285 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6721:Zfp647
|
UTSW |
15 |
76,796,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7158:Zfp647
|
UTSW |
15 |
76,801,505 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7239:Zfp647
|
UTSW |
15 |
76,795,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Zfp647
|
UTSW |
15 |
76,795,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8066:Zfp647
|
UTSW |
15 |
76,796,095 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8170:Zfp647
|
UTSW |
15 |
76,795,571 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8346:Zfp647
|
UTSW |
15 |
76,795,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTCGTGATTCATCAGGG -3'
(R):5'- TCACGAGTGTCTGGAATGTG -3'
Sequencing Primer
(F):5'- CGGTGGCTAAAGGTCTTGCC -3'
(R):5'- ATGTGGGAAGGCGTTCACC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation