Incidental Mutation 'IGL02205:Zfp654'
| ID |
284424 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp654
|
| Ensembl Gene |
ENSMUSG00000047141 |
| Gene Name |
zinc finger protein 654 |
| Synonyms |
Gm5488, 1600021C16Rik, 1810008K20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
64600710-64672015 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64606329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 624
(N624K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052588]
[ENSMUST00000207826]
|
| AlphaFold |
Q9DAU9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052588
AA Change: N83K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052946
Gene: ENSMUSG00000047141
AA Change: N83K
| 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 damaging
Transcript: ENSMUST00000207826
AA Change: N624K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc10a7 |
G |
T |
8: 79,423,932 (GRCm39) |
K203N |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation