Incidental Mutation 'R5693:Zfp654'
| ID |
443791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp654
|
| Ensembl Gene |
ENSMUSG00000047141 |
| Gene Name |
zinc finger protein 654 |
| Synonyms |
Gm5488, 1600021C16Rik, 1810008K20Rik |
| MMRRC Submission |
043180-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
R5693 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
64600710-64672015 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64606289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 97
(T97A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052588]
[ENSMUST00000207826]
|
| AlphaFold |
Q9DAU9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052588
AA Change: T97A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000052946
Gene: ENSMUSG00000047141
AA Change: T97A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
25 |
47 |
1.69e-3 |
SMART |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
197 |
222 |
1.25e-1 |
SMART |
|
ZnF_C2H2
|
238 |
260 |
4.65e-1 |
SMART |
|
ZnF_C2H2
|
266 |
290 |
4.98e-1 |
SMART |
|
ZnF_C2H2
|
295 |
319 |
7.49e0 |
SMART |
|
ZnF_C2H2
|
534 |
554 |
1.49e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207826
AA Change: T638A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,266,233 (GRCm39) |
I3071V |
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Abr |
T |
C |
11: 76,354,403 (GRCm39) |
N236S |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,501,870 (GRCm39) |
Y248C |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Chd6 |
A |
T |
2: 160,807,185 (GRCm39) |
S2010T |
probably benign |
Het |
| Dcc |
G |
A |
18: 71,708,153 (GRCm39) |
T521I |
probably damaging |
Het |
| Dmrtb1 |
G |
A |
4: 107,541,366 (GRCm39) |
|
probably benign |
Het |
| Evc |
A |
G |
5: 37,477,584 (GRCm39) |
V365A |
possibly damaging |
Het |
| Gata4 |
A |
G |
14: 63,478,594 (GRCm39) |
Y2H |
probably damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,621 (GRCm39) |
N437S |
probably damaging |
Het |
| Lifr |
T |
C |
15: 7,205,041 (GRCm39) |
V426A |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,320 (GRCm39) |
I122M |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,597,181 (GRCm39) |
N3174D |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,173,462 (GRCm39) |
R534H |
probably damaging |
Het |
| Nectin2 |
T |
C |
7: 19,458,794 (GRCm39) |
D339G |
probably benign |
Het |
| Oprd1 |
G |
A |
4: 131,871,721 (GRCm39) |
|
probably benign |
Het |
| Or6c66 |
T |
C |
10: 129,461,396 (GRCm39) |
D178G |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,470,276 (GRCm39) |
V751I |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,013,526 (GRCm39) |
S175P |
probably damaging |
Het |
| Pik3r5 |
C |
T |
11: 68,385,077 (GRCm39) |
R661C |
probably damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Prkar1b |
A |
G |
5: 139,113,400 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ptprf |
G |
A |
4: 118,093,374 (GRCm39) |
R90* |
probably null |
Het |
| Rasef |
T |
C |
4: 73,688,076 (GRCm39) |
M26V |
probably damaging |
Het |
| Rfx1 |
C |
A |
8: 84,800,533 (GRCm39) |
Q45K |
unknown |
Het |
| Rnf183 |
A |
G |
4: 62,346,753 (GRCm39) |
V15A |
possibly damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,155,128 (GRCm39) |
C19F |
probably damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,190,229 (GRCm39) |
I907F |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,485,318 (GRCm39) |
I293V |
probably benign |
Het |
| Srcap |
C |
A |
7: 127,118,988 (GRCm39) |
A97E |
probably damaging |
Het |
| Thyn1 |
G |
T |
9: 26,916,511 (GRCm39) |
|
probably null |
Het |
| Tiparp |
T |
C |
3: 65,460,913 (GRCm39) |
I634T |
possibly damaging |
Het |
| Tjp1 |
G |
A |
7: 64,992,411 (GRCm39) |
A156V |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,602,320 (GRCm39) |
M349V |
probably benign |
Het |
| Tyro3 |
T |
G |
2: 119,641,349 (GRCm39) |
F519L |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,646 (GRCm39) |
Y123* |
probably null |
Het |
| Vmn1r183 |
C |
T |
7: 23,754,227 (GRCm39) |
T10I |
possibly 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 |
|
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 |
|
R8361:Zfp654
|
UTSW |
16 |
64,612,220 (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'- GTGAAGCACTGATGTTTCTTGATTC -3'
(R):5'- GGCCACATTGTAAGGCATGC -3'
Sequencing Primer
(F):5'- GCACTGATGTTTCTTGATTCAAATC -3'
(R):5'- CACATTGTAAGGCATGCCCAGG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation