Incidental Mutation 'R5709:Inhbb'
| ID |
452117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inhbb
|
| Ensembl Gene |
ENSMUSG00000037035 |
| Gene Name |
inhibin beta-B |
| Synonyms |
activin beta-B |
| MMRRC Submission |
043184-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.486)
|
| Stock # |
R5709 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
119343195-119349978 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119345260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 343
(Y343F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038765]
|
| AlphaFold |
Q04999 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038765
AA Change: Y343F
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044918
Gene: ENSMUSG00000037035
AA Change: Y343F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
66 |
282 |
1.4e-13 |
PFAM |
|
TGFB
|
307 |
411 |
5.55e-53 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Homozygous knockout mice for this gene exhibit eyelid defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Some homozygotes for targeted null mutations exhibit open eyes at birth and impaired maternal nuturing. Mutant females for one line exhibit extended gestation length, retarded mammary duct elongation and alveolar morphogenesis, and are unable to nurse their pups. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
| Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
| Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
| Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
| Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
| Rcn1 |
T |
C |
2: 105,225,128 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,837,800 (GRCm39) |
N117K |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
| Shb |
T |
C |
4: 45,458,327 (GRCm39) |
E279G |
probably damaging |
Het |
| Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
| Sohlh2 |
T |
C |
3: 55,099,723 (GRCm39) |
L165P |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,971,415 (GRCm39) |
C428R |
probably damaging |
Het |
| Stra8 |
A |
T |
6: 34,904,697 (GRCm39) |
D13V |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
| Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,923,075 (GRCm39) |
D380G |
probably benign |
Het |
|
| Other mutations in Inhbb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02212:Inhbb
|
APN |
1 |
119,345,713 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0091:Inhbb
|
UTSW |
1 |
119,345,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Inhbb
|
UTSW |
1 |
119,345,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1352:Inhbb
|
UTSW |
1 |
119,348,425 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2119:Inhbb
|
UTSW |
1 |
119,348,431 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3964:Inhbb
|
UTSW |
1 |
119,345,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Inhbb
|
UTSW |
1 |
119,345,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Inhbb
|
UTSW |
1 |
119,348,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Inhbb
|
UTSW |
1 |
119,345,806 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6376:Inhbb
|
UTSW |
1 |
119,345,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Inhbb
|
UTSW |
1 |
119,345,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6685:Inhbb
|
UTSW |
1 |
119,345,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Inhbb
|
UTSW |
1 |
119,348,752 (GRCm39) |
nonsense |
probably null |
|
|
R7498:Inhbb
|
UTSW |
1 |
119,345,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Inhbb
|
UTSW |
1 |
119,345,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Inhbb
|
UTSW |
1 |
119,345,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCACGATCATGTTGGG -3'
(R):5'- AGTCACACAGGCCCTTTGTAG -3'
Sequencing Primer
(F):5'- ACGATCATGTTGGGCACATC -3'
(R):5'- ACACAGGCCCTTTGTAGTGGTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation