Incidental Mutation 'R2967:Zfp653'
| ID |
263292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp653
|
| Ensembl Gene |
ENSMUSG00000038895 |
| Gene Name |
zinc finger protein 653 |
| Synonyms |
E430039K05Rik |
| MMRRC Submission |
040523-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R2967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21966707-21982672 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21977026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 147
(L147P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043922]
[ENSMUST00000179605]
|
| AlphaFold |
Q6YND2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043922
AA Change: L175P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045895
Gene: ENSMUSG00000038895
AA Change: L175P
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
29 |
41 |
2.28e0 |
SMART |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
467 |
492 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
498 |
522 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
528 |
550 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
556 |
578 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
586 |
609 |
1.31e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179605
AA Change: L175P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137064
Gene: ENSMUSG00000038895
AA Change: L175P
| Domain | Start | End | E-Value | Type |
|---|
|
AT_hook
|
29 |
41 |
2.28e0 |
SMART |
|
low complexity region
|
105 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
464 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
475 |
500 |
4.11e-2 |
SMART |
|
ZnF_C2H2
|
506 |
530 |
4.47e-3 |
SMART |
|
ZnF_C2H2
|
536 |
558 |
4.87e-4 |
SMART |
|
ZnF_C2H2
|
564 |
586 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
594 |
617 |
1.31e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213738
AA Change: L147P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216916
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,304,131 (GRCm39) |
S185G |
possibly damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,601 (GRCm39) |
E410K |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,361,993 (GRCm39) |
N733I |
probably damaging |
Het |
| Bola3 |
T |
A |
6: 83,326,280 (GRCm39) |
Y24N |
probably benign |
Het |
| Cntn6 |
G |
A |
6: 104,703,198 (GRCm39) |
V135I |
probably benign |
Het |
| Eif2s3y |
A |
T |
Y: 1,020,030 (GRCm39) |
M353L |
probably benign |
Het |
| Ercc8 |
C |
A |
13: 108,297,248 (GRCm39) |
P53T |
probably damaging |
Het |
| Gan |
A |
G |
8: 117,910,265 (GRCm39) |
K65E |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,792,339 (GRCm39) |
E597G |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,773,909 (GRCm39) |
H81L |
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,170,899 (GRCm39) |
N91I |
probably damaging |
Het |
| Or1e31 |
A |
G |
11: 73,689,933 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,887 (GRCm39) |
I86F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,901,819 (GRCm39) |
S451P |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,686 (GRCm39) |
R394S |
probably damaging |
Het |
| Pwp2 |
A |
G |
10: 78,018,532 (GRCm39) |
L84S |
possibly damaging |
Het |
| Rab1a |
T |
A |
11: 20,173,068 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,824,915 (GRCm39) |
S388P |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,609,752 (GRCm39) |
K172R |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,219,339 (GRCm39) |
A1197V |
probably benign |
Het |
| Ttf1 |
T |
A |
2: 28,955,395 (GRCm39) |
V253D |
possibly damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,488 (GRCm39) |
V160E |
probably damaging |
Het |
| Vmn1r81 |
G |
T |
7: 11,993,964 (GRCm39) |
Q215K |
probably damaging |
Het |
|
| Other mutations in Zfp653 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02541:Zfp653
|
APN |
9 |
21,967,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Zfp653
|
UTSW |
9 |
21,977,053 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1245:Zfp653
|
UTSW |
9 |
21,967,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Zfp653
|
UTSW |
9 |
21,969,516 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1564:Zfp653
|
UTSW |
9 |
21,967,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Zfp653
|
UTSW |
9 |
21,969,274 (GRCm39) |
nonsense |
probably null |
|
|
R1574:Zfp653
|
UTSW |
9 |
21,969,274 (GRCm39) |
nonsense |
probably null |
|
|
R2851:Zfp653
|
UTSW |
9 |
21,968,862 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2852:Zfp653
|
UTSW |
9 |
21,968,862 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4937:Zfp653
|
UTSW |
9 |
21,967,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5390:Zfp653
|
UTSW |
9 |
21,969,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6135:Zfp653
|
UTSW |
9 |
21,969,558 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6798:Zfp653
|
UTSW |
9 |
21,968,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Zfp653
|
UTSW |
9 |
21,977,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Zfp653
|
UTSW |
9 |
21,977,116 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7486:Zfp653
|
UTSW |
9 |
21,967,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7515:Zfp653
|
UTSW |
9 |
21,982,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Zfp653
|
UTSW |
9 |
21,969,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9307:Zfp653
|
UTSW |
9 |
21,969,321 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9491:Zfp653
|
UTSW |
9 |
21,969,622 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGACTTAGGCTGCAAGTC -3'
(R):5'- GAGCACTTGTCCTCACATCTG -3'
Sequencing Primer
(F):5'- AGTCCTGAAAAGGGCTTGTCC -3'
(R):5'- CGGCGCAATGTGAACTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation