Incidental Mutation 'R1276:Zfp654'
| ID |
150911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp654
|
| Ensembl Gene |
ENSMUSG00000047141 |
| Gene Name |
zinc finger protein 654 |
| Synonyms |
Gm5488, 1600021C16Rik, 1810008K20Rik |
| MMRRC Submission |
039342-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.711)
|
| Stock # |
R1276 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
64600710-64672015 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64605699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 293
(F293L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052588]
[ENSMUST00000207826]
|
| AlphaFold |
Q9DAU9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052588
AA Change: F293L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052946
Gene: ENSMUSG00000047141
AA Change: F293L
| 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: F834L
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
C |
A |
8: 27,609,852 (GRCm39) |
A660D |
probably damaging |
Het |
| Ccdc82 |
A |
T |
9: 13,281,903 (GRCm39) |
I443F |
probably benign |
Het |
| Cct4 |
C |
T |
11: 22,952,171 (GRCm39) |
L391F |
probably damaging |
Het |
| Cep63 |
A |
T |
9: 102,466,099 (GRCm39) |
D642E |
possibly damaging |
Het |
| Chd5 |
T |
A |
4: 152,463,191 (GRCm39) |
L1424Q |
probably damaging |
Het |
| Cox4i1 |
A |
G |
8: 121,400,089 (GRCm39) |
Y71C |
probably damaging |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,668 (GRCm39) |
Q270L |
possibly damaging |
Het |
| Egln2 |
TTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTG |
7: 26,864,430 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
A |
G |
15: 85,113,791 (GRCm39) |
D175G |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm9847 |
A |
G |
12: 14,544,932 (GRCm39) |
|
noncoding transcript |
Het |
| Hdlbp |
A |
T |
1: 93,348,823 (GRCm39) |
S576T |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,298,576 (GRCm39) |
N296S |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,833 (GRCm39) |
V2379E |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,588 (GRCm39) |
I162N |
probably benign |
Het |
| Mydgf |
A |
G |
17: 56,486,362 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
T |
C |
19: 47,256,822 (GRCm39) |
D632G |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,057,726 (GRCm39) |
M209V |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,787 (GRCm39) |
E308G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,624,996 (GRCm39) |
T131M |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,685,025 (GRCm39) |
S156T |
probably benign |
Het |
| Svs5 |
T |
A |
2: 164,079,168 (GRCm39) |
Q246H |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,987,963 (GRCm39) |
|
probably null |
Het |
| Tbc1d9b |
T |
A |
11: 50,043,476 (GRCm39) |
H532Q |
possibly damaging |
Het |
| Tcf21 |
G |
A |
10: 22,695,489 (GRCm39) |
T105I |
probably damaging |
Het |
| Thsd7a |
C |
A |
6: 12,418,369 (GRCm39) |
C620F |
probably damaging |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,031 (GRCm39) |
Y216C |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,344 (GRCm39) |
S356G |
possibly damaging |
Het |
| Wasf1 |
T |
A |
10: 40,812,522 (GRCm39) |
I437N |
unknown |
Het |
| Wdr24 |
A |
G |
17: 26,046,441 (GRCm39) |
Y538C |
probably benign |
Het |
| Zbtb4 |
G |
T |
11: 69,667,045 (GRCm39) |
D117Y |
probably damaging |
Het |
| Zkscan7 |
A |
G |
9: 122,719,788 (GRCm39) |
E158G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTTGGCTCTATGGCAGGCATC -3'
(R):5'- TGCAAGGACTGTGCATCCAACTG -3'
Sequencing Primer
(F):5'- AGGCATCTTTTGGTCTATCAAGC -3'
(R):5'- TGTGCGGCAAACTGTAATG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation