Incidental Mutation 'R2912:Zfp467'
| ID |
261298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp467
|
| Ensembl Gene |
ENSMUSG00000068551 |
| Gene Name |
zinc finger protein 467 |
| Synonyms |
EZI, MNCb-3350, 1190001I08Rik |
| MMRRC Submission |
040499-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.170)
|
| Stock # |
R2912 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48404631-48422759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48416010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 214
(R214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101443]
[ENSMUST00000114556]
[ENSMUST00000114558]
[ENSMUST00000114559]
[ENSMUST00000114560]
[ENSMUST00000114561]
[ENSMUST00000114563]
[ENSMUST00000114564]
[ENSMUST00000114566]
[ENSMUST00000141449]
|
| AlphaFold |
Q8JZL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101443
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114559
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114560
AA Change: R214L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110207
Gene: ENSMUSG00000068551
AA Change: R214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
110 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
160 |
182 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
514 |
536 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
2.43e-4 |
SMART |
|
low complexity region
|
567 |
585 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114561
AA Change: R214L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110208
Gene: ENSMUSG00000068551
AA Change: R214L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
98 |
110 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
160 |
182 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
355 |
377 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
430 |
452 |
7.26e-3 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
1.18e-2 |
SMART |
|
ZnF_C2H2
|
514 |
536 |
3.11e-2 |
SMART |
|
ZnF_C2H2
|
542 |
564 |
2.43e-4 |
SMART |
|
low complexity region
|
567 |
585 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114564
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141449
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aloxe3 |
A |
T |
11: 69,020,866 (GRCm39) |
K197M |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,524,517 (GRCm39) |
K182E |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,999,201 (GRCm39) |
D4643G |
probably damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,586,139 (GRCm39) |
D41G |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Creb3l1 |
T |
C |
2: 91,817,398 (GRCm39) |
T372A |
possibly damaging |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,072,109 (GRCm39) |
E251G |
probably damaging |
Het |
| Dnajc27 |
C |
T |
12: 4,146,280 (GRCm39) |
S103L |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,544,743 (GRCm39) |
N348K |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,092,571 (GRCm39) |
S504P |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,488 (GRCm39) |
D1321G |
probably damaging |
Het |
| Garin4 |
T |
C |
1: 190,895,425 (GRCm39) |
N406S |
probably benign |
Het |
| Gpr157 |
G |
A |
4: 150,183,222 (GRCm39) |
V131I |
probably benign |
Het |
| Hprt1 |
T |
C |
X: 52,109,016 (GRCm39) |
Y174H |
probably damaging |
Het |
| Kcnq2 |
A |
G |
2: 180,723,567 (GRCm39) |
V603A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 26,876,799 (GRCm39) |
S2716G |
probably benign |
Het |
| Lax1 |
A |
G |
1: 133,611,791 (GRCm39) |
V48A |
possibly damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,187,210 (GRCm39) |
L188P |
probably damaging |
Het |
| Mfsd5 |
A |
G |
15: 102,189,743 (GRCm39) |
T372A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,817,815 (GRCm39) |
S307G |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,871,572 (GRCm39) |
Y637C |
probably damaging |
Het |
| Nherf2 |
C |
T |
17: 24,861,215 (GRCm39) |
G71S |
probably damaging |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,308,595 (GRCm39) |
S474P |
probably damaging |
Het |
| Nup210 |
T |
G |
6: 91,003,956 (GRCm39) |
D644A |
probably damaging |
Het |
| Or10ak7 |
A |
G |
4: 118,791,898 (GRCm39) |
I47T |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,458 (GRCm39) |
N170Y |
probably benign |
Het |
| Or5j3 |
A |
G |
2: 86,128,733 (GRCm39) |
D191G |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,373,512 (GRCm39) |
Y259H |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 88,954,024 (GRCm39) |
I660V |
probably benign |
Het |
| Pramel13 |
T |
C |
4: 144,119,304 (GRCm39) |
E421G |
probably damaging |
Het |
| Prx |
C |
T |
7: 27,215,654 (GRCm39) |
P52S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,106,177 (GRCm39) |
S206P |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,205,798 (GRCm39) |
P217S |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,594,226 (GRCm39) |
D382G |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 108,653,660 (GRCm39) |
F144L |
possibly damaging |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,221,551 (GRCm39) |
S2763P |
probably damaging |
Het |
| Vmn1r42 |
T |
C |
6: 89,821,688 (GRCm39) |
M294V |
probably benign |
Het |
| Zfp750 |
C |
A |
11: 121,403,153 (GRCm39) |
A532S |
probably benign |
Het |
| Zscan4d |
G |
A |
7: 10,896,614 (GRCm39) |
P252L |
probably benign |
Het |
|
| Other mutations in Zfp467 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0166:Zfp467
|
UTSW |
6 |
48,415,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0234:Zfp467
|
UTSW |
6 |
48,415,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Zfp467
|
UTSW |
6 |
48,415,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1509:Zfp467
|
UTSW |
6 |
48,415,621 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1517:Zfp467
|
UTSW |
6 |
48,415,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Zfp467
|
UTSW |
6 |
48,416,013 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2131:Zfp467
|
UTSW |
6 |
48,419,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4696:Zfp467
|
UTSW |
6 |
48,416,291 (GRCm39) |
unclassified |
probably benign |
|
|
R4714:Zfp467
|
UTSW |
6 |
48,404,751 (GRCm39) |
missense |
unknown |
|
|
R4993:Zfp467
|
UTSW |
6 |
48,415,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7038:Zfp467
|
UTSW |
6 |
48,415,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Zfp467
|
UTSW |
6 |
48,421,903 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7855:Zfp467
|
UTSW |
6 |
48,416,115 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8073:Zfp467
|
UTSW |
6 |
48,414,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8093:Zfp467
|
UTSW |
6 |
48,420,366 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8139:Zfp467
|
UTSW |
6 |
48,416,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Zfp467
|
UTSW |
6 |
48,415,414 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9418:Zfp467
|
UTSW |
6 |
48,415,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9608:Zfp467
|
UTSW |
6 |
48,404,776 (GRCm39) |
missense |
unknown |
|
|
R9656:Zfp467
|
UTSW |
6 |
48,419,603 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGATGCGTCTTCTTGCGG -3'
(R):5'- GATCCCTGAGAAGCCTTATGG -3'
Sequencing Primer
(F):5'- GAAACGTTTCTCGCATTCGG -3'
(R):5'- CCTTATGGCTGCGAGGAATGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation