Incidental Mutation 'R6126:Zfp647'
| ID |
487419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| MMRRC Submission |
044273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76794571-76809648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76796285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 125
(P125L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048854]
[ENSMUST00000229055]
[ENSMUST00000229865]
|
| AlphaFold |
Q7TNU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048854
AA Change: P125L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967
AA Change: P125L
| 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 |
probably benign
Transcript: ENSMUST00000229055
AA Change: P125L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229865
AA Change: P125L
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1789 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
93% (51/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,963,881 (GRCm39) |
R111H |
probably damaging |
Het |
| Alk |
G |
A |
17: 72,182,037 (GRCm39) |
L1329F |
possibly damaging |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,281,775 (GRCm39) |
M126I |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,826,482 (GRCm39) |
S949P |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,345 (GRCm39) |
A203T |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,267,264 (GRCm39) |
I5080K |
probably damaging |
Het |
| Ecd |
T |
C |
14: 20,388,493 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,014,318 (GRCm39) |
K638* |
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,443 (GRCm39) |
I272T |
probably damaging |
Het |
| Foxd2 |
C |
A |
4: 114,765,702 (GRCm39) |
G106V |
unknown |
Het |
| Ggcx |
A |
T |
6: 72,394,966 (GRCm39) |
M115L |
possibly damaging |
Het |
| Gm21976 |
G |
A |
13: 98,423,821 (GRCm39) |
R72H |
unknown |
Het |
| Hsf2 |
T |
C |
10: 57,372,013 (GRCm39) |
V38A |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,505,274 (GRCm39) |
Y8C |
possibly damaging |
Het |
| Il31ra |
A |
C |
13: 112,666,908 (GRCm39) |
L390R |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,947,621 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Mef2b |
C |
A |
8: 70,619,526 (GRCm39) |
T267K |
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,786,446 (GRCm39) |
|
probably null |
Het |
| Mnx1 |
G |
T |
5: 29,683,110 (GRCm39) |
A55E |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,354,969 (GRCm39) |
I949F |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,626 (GRCm39) |
|
probably null |
Het |
| Or12j3 |
T |
G |
7: 139,953,166 (GRCm39) |
Y119S |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,457 (GRCm39) |
|
probably benign |
Het |
| Panx1 |
T |
A |
9: 14,919,086 (GRCm39) |
I258F |
probably benign |
Het |
| Pask |
T |
C |
1: 93,242,081 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,331,190 (GRCm39) |
K265R |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,508,673 (GRCm39) |
H844R |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,646,376 (GRCm39) |
T136A |
possibly damaging |
Het |
| Rab35 |
A |
G |
5: 115,783,767 (GRCm39) |
N185D |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,599,083 (GRCm39) |
D188V |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,030,140 (GRCm39) |
D1188V |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,775,664 (GRCm39) |
D2282E |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,588,015 (GRCm39) |
L2642P |
probably damaging |
Het |
| Sez6 |
A |
T |
11: 77,864,630 (GRCm39) |
Y530F |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,077,116 (GRCm39) |
Y1205C |
possibly damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,203,247 (GRCm39) |
H49L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,677,280 (GRCm39) |
V1503D |
probably damaging |
Het |
| Spata31e3 |
G |
T |
13: 50,400,326 (GRCm39) |
Q667K |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,063,591 (GRCm39) |
N1007S |
probably benign |
Het |
| Tpk1 |
A |
T |
6: 43,400,594 (GRCm39) |
C143S |
probably damaging |
Het |
| Wdr20 |
A |
T |
12: 110,760,536 (GRCm39) |
H474L |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,174 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,808,497 (GRCm39) |
T1516A |
probably benign |
Het |
| Zfp462 |
G |
A |
4: 55,023,573 (GRCm39) |
A2121T |
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 |
|
R5345:Zfp647
|
UTSW |
15 |
76,795,695 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
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 |
|
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'- GCACTTTCCACACTCAATGCAG -3'
(R):5'- ACTGTGAAGCAAAGCCAGC -3'
Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation