Incidental Mutation 'R6101:Zfp647'
| ID |
485273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp647
|
| Ensembl Gene |
ENSMUSG00000054967 |
| Gene Name |
zinc finger protein 647 |
| Synonyms |
|
| MMRRC Submission |
044251-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6101 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76910371-76925448 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76912085 bp (GRCm38)
|
| 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: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
T |
8: 24,970,759 (GRCm38) |
C570S |
probably damaging |
Het |
| Adh6b |
T |
A |
3: 138,357,710 (GRCm38) |
I350K |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 9,004,099 (GRCm38) |
V916I |
probably benign |
Het |
| Aldh4a1 |
C |
T |
4: 139,638,495 (GRCm38) |
P266S |
possibly damaging |
Het |
| Arhgap11a |
G |
A |
2: 113,834,874 (GRCm38) |
R460* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,693,032 (GRCm38) |
D477V |
probably damaging |
Het |
| Clstn3 |
A |
T |
6: 124,461,670 (GRCm38) |
L45Q |
probably damaging |
Het |
| Cnot7 |
C |
T |
8: 40,510,037 (GRCm38) |
R32Q |
probably benign |
Het |
| Csrnp1 |
T |
C |
9: 119,973,485 (GRCm38) |
D220G |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,871,593 (GRCm38) |
R49Q |
possibly damaging |
Het |
| Fblim1 |
G |
A |
4: 141,584,722 (GRCm38) |
R231C |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,906,431 (GRCm38) |
Y137* |
probably null |
Het |
| Gm10549 |
C |
A |
18: 33,464,305 (GRCm38) |
|
probably benign |
Het |
| Igha |
T |
A |
12: 113,256,397 (GRCm38) |
|
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,575,988 (GRCm38) |
S490P |
probably benign |
Het |
| Kxd1 |
A |
T |
8: 70,519,939 (GRCm38) |
N33K |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,723,135 (GRCm38) |
I567T |
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,367,001 (GRCm38) |
D355G |
probably damaging |
Het |
| Map6 |
T |
C |
7: 99,268,107 (GRCm38) |
V29A |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,033,710 (GRCm38) |
V437D |
probably damaging |
Het |
| Mief1 |
T |
C |
15: 80,249,740 (GRCm38) |
Y333H |
probably benign |
Het |
| Olfr1303 |
A |
G |
2: 111,814,253 (GRCm38) |
F158L |
probably benign |
Het |
| Olfr533 |
T |
A |
7: 140,466,519 (GRCm38) |
V106D |
probably benign |
Het |
| Olfr917 |
A |
G |
9: 38,665,620 (GRCm38) |
S75P |
probably damaging |
Het |
| Olfr926 |
T |
C |
9: 38,877,308 (GRCm38) |
L44P |
possibly damaging |
Het |
| Pak1ip1 |
T |
A |
13: 41,004,885 (GRCm38) |
L78Q |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,264,345 (GRCm38) |
|
probably null |
Het |
| Pinlyp |
C |
T |
7: 24,545,980 (GRCm38) |
R5K |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 109,640,846 (GRCm38) |
D1225G |
probably damaging |
Het |
| Pnmal2 |
T |
A |
7: 16,946,568 (GRCm38) |
S492R |
probably benign |
Het |
| Postn |
A |
G |
3: 54,372,220 (GRCm38) |
|
probably null |
Het |
| Ptprq |
A |
G |
10: 107,580,266 (GRCm38) |
Y1724H |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,310,188 (GRCm38) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,522,650 (GRCm38) |
V755A |
probably damaging |
Het |
| Slc22a30 |
T |
C |
19: 8,337,868 (GRCm38) |
|
probably null |
Het |
| Specc1l |
T |
C |
10: 75,248,632 (GRCm38) |
S730P |
probably damaging |
Het |
| Steap2 |
T |
A |
5: 5,675,891 (GRCm38) |
I378F |
possibly damaging |
Het |
| Tdrd12 |
A |
T |
7: 35,481,133 (GRCm38) |
Y818* |
probably null |
Het |
| Thbs4 |
G |
T |
13: 92,775,485 (GRCm38) |
Q246K |
possibly damaging |
Het |
| Tnfsf10 |
A |
G |
3: 27,335,549 (GRCm38) |
Y253C |
probably damaging |
Het |
| Tnpo3 |
G |
T |
6: 29,588,043 (GRCm38) |
C125* |
probably null |
Het |
| Trim58 |
A |
G |
11: 58,651,615 (GRCm38) |
N467S |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,853,748 (GRCm38) |
R1326* |
probably null |
Het |
| Zc3hav1l |
A |
G |
6: 38,293,077 (GRCm38) |
V279A |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,133,241 (GRCm38) |
Q753L |
probably benign |
Het |
| Zkscan17 |
A |
T |
11: 59,503,575 (GRCm38) |
C67S |
probably damaging |
Het |
|
| Other mutations in Zfp647 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Zfp647
|
APN |
15 |
76,911,670 (GRCm38) |
nonsense |
probably null |
|
|
IGL01680:Zfp647
|
APN |
15 |
76,917,768 (GRCm38) |
splice site |
probably benign |
|
|
IGL02647:Zfp647
|
APN |
15 |
76,917,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03213:Zfp647
|
APN |
15 |
76,911,977 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL03401:Zfp647
|
APN |
15 |
76,911,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0418:Zfp647
|
UTSW |
15 |
76,911,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1479:Zfp647
|
UTSW |
15 |
76,911,203 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1913:Zfp647
|
UTSW |
15 |
76,911,951 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1959:Zfp647
|
UTSW |
15 |
76,911,114 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R2176:Zfp647
|
UTSW |
15 |
76,911,660 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3076:Zfp647
|
UTSW |
15 |
76,918,009 (GRCm38) |
start codon destroyed |
probably null |
|
|
R3077:Zfp647
|
UTSW |
15 |
76,918,009 (GRCm38) |
start codon destroyed |
probably null |
|
|
R3701:Zfp647
|
UTSW |
15 |
76,910,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3702:Zfp647
|
UTSW |
15 |
76,910,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3960:Zfp647
|
UTSW |
15 |
76,910,976 (GRCm38) |
splice site |
probably null |
|
|
R4938:Zfp647
|
UTSW |
15 |
76,911,044 (GRCm38) |
frame shift |
probably null |
|
|
R4939:Zfp647
|
UTSW |
15 |
76,911,044 (GRCm38) |
frame shift |
probably null |
|
|
R5196:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5197:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5345:Zfp647
|
UTSW |
15 |
76,911,495 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R5415:Zfp647
|
UTSW |
15 |
76,911,393 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5791:Zfp647
|
UTSW |
15 |
76,918,006 (GRCm38) |
missense |
unknown |
|
|
R5942:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5944:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5945:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5946:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5947:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6005:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6007:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6073:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6074:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6102:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6103:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6126:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6127:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6129:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6136:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6151:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6305:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6306:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6329:Zfp647
|
UTSW |
15 |
76,912,085 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6721:Zfp647
|
UTSW |
15 |
76,911,876 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7158:Zfp647
|
UTSW |
15 |
76,917,305 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7239:Zfp647
|
UTSW |
15 |
76,911,756 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7611:Zfp647
|
UTSW |
15 |
76,911,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8066:Zfp647
|
UTSW |
15 |
76,911,895 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8170:Zfp647
|
UTSW |
15 |
76,911,371 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R8346:Zfp647
|
UTSW |
15 |
76,911,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTCCACACTCAATGC -3'
(R):5'- ACTGTGAAGCAAAGCCAGC -3'
Sequencing Primer
(F):5'- CAGATATAGGGTCTCTCAACACTGG -3'
(R):5'- TTAAAGCAGCCCTTGTAGGTAGCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation