Incidental Mutation 'R8285:Inhbc'
| ID |
638427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inhbc
|
| Ensembl Gene |
ENSMUSG00000025405 |
| Gene Name |
inhibin beta-C |
| Synonyms |
activin beta-C |
| MMRRC Submission |
067653-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8285 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127192191-127206300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127206010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 86
(T86A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026472]
|
| AlphaFold |
P55104 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026472
AA Change: T86A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026472
Gene: ENSMUSG00000025405
AA Change: T86A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
TGFB
|
247 |
352 |
7.32e-53 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
A |
G |
10: 88,904,079 (GRCm39) |
I206T |
probably damaging |
Het |
| Atp5pf |
A |
G |
16: 84,625,390 (GRCm39) |
L71P |
probably damaging |
Het |
| Bcar3 |
A |
T |
3: 122,306,383 (GRCm39) |
I468F |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,265,808 (GRCm39) |
Q187L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,865,566 (GRCm39) |
N139D |
probably benign |
Het |
| Fan1 |
A |
T |
7: 64,016,348 (GRCm39) |
I592N |
probably damaging |
Het |
| Fchsd2 |
T |
C |
7: 100,883,128 (GRCm39) |
F252S |
possibly damaging |
Het |
| Gad2 |
T |
A |
2: 22,514,940 (GRCm39) |
N139K |
probably benign |
Het |
| Gm12695 |
G |
A |
4: 96,657,990 (GRCm39) |
R60W |
possibly damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,556 (GRCm39) |
V224A |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,239,974 (GRCm39) |
D514G |
probably benign |
Het |
| Igsf23 |
T |
C |
7: 19,675,881 (GRCm39) |
D113G |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,659,540 (GRCm39) |
S431P |
probably damaging |
Het |
| Kif13b |
A |
G |
14: 65,019,825 (GRCm39) |
H1398R |
probably benign |
Het |
| Lce1f |
T |
C |
3: 92,626,238 (GRCm39) |
S140G |
unknown |
Het |
| Mapt |
T |
A |
11: 104,189,628 (GRCm39) |
D215E |
probably benign |
Het |
| Maz |
T |
C |
7: 126,624,644 (GRCm39) |
Y292C |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mpo |
A |
G |
11: 87,688,393 (GRCm39) |
M351V |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,554,273 (GRCm39) |
P4007S |
unknown |
Het |
| Or4k47 |
A |
T |
2: 111,452,390 (GRCm39) |
S10T |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,988,176 (GRCm39) |
T110I |
probably benign |
Het |
| Or5t9 |
T |
C |
2: 86,659,443 (GRCm39) |
F116L |
probably benign |
Het |
| Ppp3ca |
A |
G |
3: 136,587,205 (GRCm39) |
D229G |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,520,636 (GRCm39) |
D293E |
probably benign |
Het |
| Rab39 |
A |
T |
9: 53,617,231 (GRCm39) |
I62N |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,162,949 (GRCm39) |
E385G |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,227,404 (GRCm39) |
S340P |
unknown |
Het |
| Scpep1 |
A |
G |
11: 88,843,293 (GRCm39) |
L55P |
probably damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,249,104 (GRCm39) |
L785P |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,418,540 (GRCm39) |
V239E |
possibly damaging |
Het |
| Usf3 |
T |
C |
16: 44,041,207 (GRCm39) |
S1896P |
probably damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,703 (GRCm39) |
R562H |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,466,916 (GRCm39) |
T2383I |
probably benign |
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 |
|
R1339:Inhbc
|
UTSW |
10 |
127,193,510 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- CTTAGAGAACCTGAGGCGTAGG -3'
(R):5'- CAAAACTGAGGGTCCATGCC -3'
Sequencing Primer
(F):5'- CGCAGGCGCAGAGTGTG -3'
(R):5'- CCAGCATGTTGGGGTGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation