Incidental Mutation 'IGL02116:Inhba'
| ID |
280399 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Inhba
|
| Ensembl Gene |
ENSMUSG00000041324 |
| Gene Name |
inhibin beta-A |
| Synonyms |
activin beta-A |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02116
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
16186436-16206206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16201557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 373
(H373R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042603]
[ENSMUST00000164993]
|
| AlphaFold |
Q04998 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042603
AA Change: H373R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000047894
Gene: ENSMUSG00000041324
AA Change: H373R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
37 |
294 |
9.5e-20 |
PFAM |
|
TGFB
|
319 |
424 |
1.3e-58 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164993
AA Change: H373R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132085
Gene: ENSMUSG00000041324
AA Change: H373R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:TGFb_propeptide
|
45 |
293 |
3.8e-12 |
PFAM |
|
TGFB
|
319 |
424 |
1.3e-58 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223477
|
| Coding Region Coverage |
|
| 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. The encoded protein also plays a role in eye, tooth and testis development. Homozygous knockout mice for this gene lack whiskers and exhibit tooth and palate defects, leading to neonatal lethality. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a targeted null mutation lack vibrissae and lower incisors, have defects in their secondary palates, and die shortly after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,981,018 (GRCm39) |
N190K |
possibly damaging |
Het |
| Adamts19 |
T |
C |
18: 58,970,571 (GRCm39) |
S52P |
probably benign |
Het |
| Ahrr |
G |
T |
13: 74,368,692 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Ap4s1 |
T |
C |
12: 51,769,833 (GRCm39) |
|
probably null |
Het |
| Atrn |
T |
C |
2: 130,800,009 (GRCm39) |
V462A |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,045,130 (GRCm39) |
S800G |
possibly damaging |
Het |
| Dach1 |
T |
G |
14: 98,138,859 (GRCm39) |
N528T |
probably damaging |
Het |
| Foxl2 |
T |
C |
9: 98,838,111 (GRCm39) |
M133T |
probably damaging |
Het |
| Grsf1 |
A |
G |
5: 88,818,033 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,042,772 (GRCm39) |
I43T |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,978 (GRCm39) |
Y2172C |
probably damaging |
Het |
| Hey1 |
G |
T |
3: 8,731,640 (GRCm39) |
|
probably null |
Het |
| Hnrnph3 |
A |
T |
10: 62,851,855 (GRCm39) |
|
probably benign |
Het |
| Hps1 |
A |
T |
19: 42,759,568 (GRCm39) |
Y81* |
probably null |
Het |
| Leo1 |
T |
A |
9: 75,356,697 (GRCm39) |
I359K |
probably damaging |
Het |
| Mcoln3 |
A |
G |
3: 145,839,664 (GRCm39) |
N339D |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,942,758 (GRCm39) |
P51S |
probably benign |
Het |
| Nadk |
C |
A |
4: 155,663,763 (GRCm39) |
|
probably benign |
Het |
| Or5an11 |
A |
G |
19: 12,246,374 (GRCm39) |
Y260C |
probably damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,632 (GRCm39) |
T244S |
probably benign |
Het |
| Pappa2 |
T |
G |
1: 158,672,695 (GRCm39) |
I1083L |
probably benign |
Het |
| R3hdm2 |
A |
G |
10: 127,334,421 (GRCm39) |
D948G |
probably damaging |
Het |
| Rbm15 |
A |
T |
3: 107,237,596 (GRCm39) |
L934Q |
probably damaging |
Het |
| Rec8 |
T |
A |
14: 55,862,336 (GRCm39) |
|
probably null |
Het |
| Riok1 |
A |
G |
13: 38,243,932 (GRCm39) |
E486G |
possibly damaging |
Het |
| Rptn |
A |
C |
3: 93,302,404 (GRCm39) |
E40A |
possibly damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc40a1 |
T |
C |
1: 45,950,688 (GRCm39) |
T255A |
probably benign |
Het |
| Slc5a8 |
A |
T |
10: 88,755,362 (GRCm39) |
M490L |
probably benign |
Het |
| Sned1 |
C |
A |
1: 93,209,447 (GRCm39) |
C62* |
probably null |
Het |
| Sptbn4 |
T |
C |
7: 27,063,782 (GRCm39) |
T2215A |
probably benign |
Het |
| Synpo |
T |
A |
18: 60,736,528 (GRCm39) |
R234W |
probably damaging |
Het |
| Tmco3 |
A |
T |
8: 13,342,706 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,972 (GRCm39) |
D250G |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,548 (GRCm39) |
I237F |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,078,466 (GRCm39) |
V306A |
probably benign |
Het |
| Zfp629 |
A |
G |
7: 127,211,890 (GRCm39) |
W8R |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,681,253 (GRCm39) |
T137A |
probably benign |
Het |
|
| Other mutations in Inhba |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02666:Inhba
|
APN |
13 |
16,201,664 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03138:Inhba
|
UTSW |
13 |
16,192,099 (GRCm39) |
missense |
probably benign |
|
|
R0020:Inhba
|
UTSW |
13 |
16,200,949 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0591:Inhba
|
UTSW |
13 |
16,201,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Inhba
|
UTSW |
13 |
16,201,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1667:Inhba
|
UTSW |
13 |
16,201,209 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1966:Inhba
|
UTSW |
13 |
16,201,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:Inhba
|
UTSW |
13 |
16,201,068 (GRCm39) |
missense |
probably benign |
|
|
R4893:Inhba
|
UTSW |
13 |
16,201,134 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5472:Inhba
|
UTSW |
13 |
16,201,371 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5905:Inhba
|
UTSW |
13 |
16,191,893 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7555:Inhba
|
UTSW |
13 |
16,192,222 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7965:Inhba
|
UTSW |
13 |
16,201,572 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8031:Inhba
|
UTSW |
13 |
16,200,860 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8997:Inhba
|
UTSW |
13 |
16,201,107 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9004:Inhba
|
UTSW |
13 |
16,201,526 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9359:Inhba
|
UTSW |
13 |
16,191,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9403:Inhba
|
UTSW |
13 |
16,191,966 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9474:Inhba
|
UTSW |
13 |
16,192,263 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9505:Inhba
|
UTSW |
13 |
16,201,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation