Incidental Mutation 'R1339:Inhbc'
| ID |
156963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inhbc
|
| Ensembl Gene |
ENSMUSG00000025405 |
| Gene Name |
inhibin beta-C |
| Synonyms |
activin beta-C |
| MMRRC Submission |
039404-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1339 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127192191-127206300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 127193510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 169
(V169L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026472]
[ENSMUST00000059718]
|
| AlphaFold |
P55104 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026472
AA Change: V169L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: V169L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
TGFB
|
247 |
352 |
7.32e-53 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059718
|
| SMART Domains |
Protein: ENSMUSP00000053977
Gene: ENSMUSG00000047492
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
157 |
N/A |
INTRINSIC |
|
TGFB
|
247 |
350 |
3.63e-48 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219640
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a null mutation display decreased serum albumin in females but are fertile with normal liver and reproductive morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adamts20 |
A |
T |
15: 94,220,777 (GRCm39) |
N1385K |
probably benign |
Het |
| Cplane2 |
A |
G |
4: 140,945,859 (GRCm39) |
E134G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,468,760 (GRCm39) |
Y382C |
probably damaging |
Het |
| Dtnbp1 |
G |
A |
13: 45,076,696 (GRCm39) |
S237L |
probably damaging |
Het |
| Foxi1 |
T |
C |
11: 34,155,866 (GRCm39) |
T255A |
probably benign |
Het |
| Ifi208 |
A |
C |
1: 173,510,804 (GRCm39) |
T320P |
probably damaging |
Het |
| Irf7 |
G |
A |
7: 140,843,617 (GRCm39) |
R320C |
probably damaging |
Het |
| Marchf6 |
T |
C |
15: 31,486,548 (GRCm39) |
T336A |
probably benign |
Het |
| Masp1 |
C |
A |
16: 23,271,217 (GRCm39) |
C677F |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,966,196 (GRCm39) |
R323G |
possibly damaging |
Het |
| Or2a7 |
G |
C |
6: 43,151,544 (GRCm39) |
G208A |
probably benign |
Het |
| Or6k8-ps1 |
G |
T |
1: 173,979,777 (GRCm39) |
G232C |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,155 (GRCm39) |
Y496H |
probably damaging |
Het |
| Rel |
C |
T |
11: 23,695,763 (GRCm39) |
C208Y |
probably damaging |
Het |
| Shc2 |
T |
G |
10: 79,462,250 (GRCm39) |
T298P |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,317,571 (GRCm39) |
L508F |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,873,199 (GRCm39) |
K74E |
probably damaging |
Het |
|
| Other mutations in Inhbc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01403:Inhbc
|
APN |
10 |
127,205,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02114:Inhbc
|
APN |
10 |
127,205,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
LCD18:Inhbc
|
UTSW |
10 |
127,367,140 (GRCm38) |
intron |
probably benign |
|
|
R0042:Inhbc
|
UTSW |
10 |
127,193,302 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0760:Inhbc
|
UTSW |
10 |
127,193,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1754:Inhbc
|
UTSW |
10 |
127,206,162 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1867:Inhbc
|
UTSW |
10 |
127,193,416 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2902:Inhbc
|
UTSW |
10 |
127,193,621 (GRCm39) |
missense |
probably benign |
|
|
R4622:Inhbc
|
UTSW |
10 |
127,193,146 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5128:Inhbc
|
UTSW |
10 |
127,193,611 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5285:Inhbc
|
UTSW |
10 |
127,193,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Inhbc
|
UTSW |
10 |
127,193,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Inhbc
|
UTSW |
10 |
127,193,411 (GRCm39) |
nonsense |
probably null |
|
|
R5815:Inhbc
|
UTSW |
10 |
127,193,318 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6483:Inhbc
|
UTSW |
10 |
127,193,309 (GRCm39) |
nonsense |
probably null |
|
|
R7423:Inhbc
|
UTSW |
10 |
127,193,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Inhbc
|
UTSW |
10 |
127,206,010 (GRCm39) |
missense |
probably benign |
|
|
R8778:Inhbc
|
UTSW |
10 |
127,193,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8859:Inhbc
|
UTSW |
10 |
127,192,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCATTCCAGCCAATCTCACGG -3'
(R):5'- ACACTCCAAAGGCTGCGATAACTTC -3'
Sequencing Primer
(F):5'- GGAAGTCTACGAAGAACTCTTGTC -3'
(R):5'- GCGATAACTTCCCTGTGGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation