Incidental Mutation 'R8361:Zfp654'
| ID |
645973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp654
|
| Ensembl Gene |
ENSMUSG00000047141 |
| Gene Name |
zinc finger protein 654 |
| Synonyms |
Gm5488, 1600021C16Rik, 1810008K20Rik |
| MMRRC Submission |
067735-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
R8361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
64600710-64672015 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64612220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 222
(H222R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207826]
|
| AlphaFold |
Q9DAU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207826
AA Change: H222R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,632,153 (GRCm39) |
N161S |
possibly damaging |
Het |
| Alg2 |
T |
C |
4: 47,471,848 (GRCm39) |
Y320C |
probably damaging |
Het |
| Aox4 |
A |
T |
1: 58,279,998 (GRCm39) |
E538V |
probably benign |
Het |
| Carmil1 |
A |
C |
13: 24,251,113 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,557,487 (GRCm39) |
F702S |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,388,221 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
T |
15: 28,331,956 (GRCm39) |
V2181L |
probably damaging |
Het |
| Dnajc11 |
C |
A |
4: 152,055,368 (GRCm39) |
R229S |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,801 (GRCm39) |
N579D |
possibly damaging |
Het |
| Fam163b |
G |
A |
2: 27,002,650 (GRCm39) |
R116C |
probably benign |
Het |
| Fbxw2 |
A |
G |
2: 34,697,426 (GRCm39) |
C314R |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,839 (GRCm39) |
H78L |
possibly damaging |
Het |
| Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
| Hmbox1 |
T |
C |
14: 65,134,289 (GRCm39) |
S104G |
possibly damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,627 (GRCm39) |
S78C |
probably damaging |
Het |
| Lrriq3 |
G |
A |
3: 154,806,855 (GRCm39) |
W168* |
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,376,250 (GRCm39) |
F3981S |
probably damaging |
Het |
| Or10k2 |
A |
G |
8: 84,268,715 (GRCm39) |
H314R |
possibly damaging |
Het |
| Pias1 |
T |
C |
9: 62,826,668 (GRCm39) |
T265A |
possibly damaging |
Het |
| Rxfp3 |
C |
A |
15: 11,036,784 (GRCm39) |
R196L |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,483,475 (GRCm39) |
S4121P |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,890,061 (GRCm39) |
E61G |
probably damaging |
Het |
| Sestd1 |
A |
T |
2: 77,017,572 (GRCm39) |
M665K |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,344,640 (GRCm39) |
R269* |
probably null |
Het |
| Smurf1 |
T |
A |
5: 144,820,506 (GRCm39) |
I521F |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,122,529 (GRCm39) |
L331F |
probably damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Uso1 |
A |
G |
5: 92,337,121 (GRCm39) |
D635G |
probably null |
Het |
| Usp5 |
C |
T |
6: 124,801,948 (GRCm39) |
G102D |
probably damaging |
Het |
| Zfp616 |
A |
G |
11: 73,975,476 (GRCm39) |
R582G |
probably damaging |
Het |
|
| Other mutations in Zfp654 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01674:Zfp654
|
APN |
16 |
64,605,004 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02043:Zfp654
|
APN |
16 |
64,605,391 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02205:Zfp654
|
APN |
16 |
64,606,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02337:Zfp654
|
APN |
16 |
64,605,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02398:Zfp654
|
APN |
16 |
64,606,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0025:Zfp654
|
UTSW |
16 |
64,605,181 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0025:Zfp654
|
UTSW |
16 |
64,605,181 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0193:Zfp654
|
UTSW |
16 |
64,606,051 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1276:Zfp654
|
UTSW |
16 |
64,605,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1851:Zfp654
|
UTSW |
16 |
64,605,491 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4065:Zfp654
|
UTSW |
16 |
64,606,288 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4872:Zfp654
|
UTSW |
16 |
64,606,145 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5693:Zfp654
|
UTSW |
16 |
64,606,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6362:Zfp654
|
UTSW |
16 |
64,606,457 (GRCm39) |
nonsense |
probably null |
|
|
R6483:Zfp654
|
UTSW |
16 |
64,612,310 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6666:Zfp654
|
UTSW |
16 |
64,606,596 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6852:Zfp654
|
UTSW |
16 |
64,606,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6917:Zfp654
|
UTSW |
16 |
64,606,834 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7289:Zfp654
|
UTSW |
16 |
64,605,523 (GRCm39) |
missense |
probably benign |
|
|
R7506:Zfp654
|
UTSW |
16 |
64,612,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7598:Zfp654
|
UTSW |
16 |
64,606,297 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7721:Zfp654
|
UTSW |
16 |
64,606,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7791:Zfp654
|
UTSW |
16 |
64,603,634 (GRCm39) |
makesense |
probably null |
|
|
R7884:Zfp654
|
UTSW |
16 |
64,672,011 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7966:Zfp654
|
UTSW |
16 |
64,605,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8487:Zfp654
|
UTSW |
16 |
64,606,011 (GRCm39) |
nonsense |
probably null |
|
|
R8705:Zfp654
|
UTSW |
16 |
64,605,433 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9074:Zfp654
|
UTSW |
16 |
64,611,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Zfp654
|
UTSW |
16 |
64,606,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGCCATTAATGCCTATGGG -3'
(R):5'- AAAAGTTTTCCTGTGGAGCATG -3'
Sequencing Primer
(F):5'- GCCATTAATGCCTATGGGTAAGTAG -3'
(R):5'- AAGTTCTGAAAATCCACTGT -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation