Incidental Mutation 'IGL02728:Inha'
ID 305347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inha
Ensembl Gene ENSMUSG00000032968
Gene Name inhibin alpha
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02728
Quality Score
Status
Chromosome 1
Chromosomal Location 75483721-75487010 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75486091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 129 (S129P)
Ref Sequence ENSEMBL: ENSMUSP00000040310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037330] [ENSMUST00000113565] [ENSMUST00000113567]
AlphaFold Q04997
Predicted Effect probably damaging
Transcript: ENSMUST00000037330
AA Change: S129P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040310
Gene: ENSMUSG00000032968
AA Change: S129P

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 189 199 N/A INTRINSIC
TGFB 263 366 1.58e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113565
SMART Domains Protein: ENSMUSP00000109195
Gene: ENSMUSG00000026211

DomainStartEndE-ValueType
IGc2 24 91 1.23e-12 SMART
IGc2 140 216 2.33e-13 SMART
IGc2 258 326 1.48e-6 SMART
IG 347 427 9.49e-5 SMART
IG 435 511 1.04e-1 SMART
FN3 518 601 6.6e-2 SMART
PDB:2E6Q|A 608 714 5e-57 PDB
Blast:IG_like 622 711 2e-50 BLAST
IG 723 804 3.79e-4 SMART
IG 814 893 2.58e-6 SMART
IGc2 911 977 1.12e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113567
SMART Domains Protein: ENSMUSP00000109197
Gene: ENSMUSG00000026211

DomainStartEndE-ValueType
IGc2 24 91 1.23e-12 SMART
IGc2 140 216 2.33e-13 SMART
IGc2 258 326 1.48e-6 SMART
IG 347 427 9.49e-5 SMART
IG 435 511 1.04e-1 SMART
FN3 518 601 6.6e-2 SMART
PDB:2E6Q|A 608 714 8e-57 PDB
Blast:IG_like 622 711 3e-50 BLAST
IG 723 804 3.79e-4 SMART
IG 814 893 2.58e-6 SMART
IGc2 911 977 1.12e-6 SMART
IG 996 1075 1.27e-5 SMART
IGc2 1094 1160 4.07e-4 SMART
IGc2 1186 1252 9.49e-5 SMART
IG 1274 1353 7.41e-7 SMART
IG 1363 1444 1.15e-3 SMART
IG 1454 1533 8.33e-1 SMART
IGc2 1549 1615 8.72e-4 SMART
IG 1633 1712 1e-3 SMART
IG 1723 1802 3.82e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120142
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129403
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145306
Predicted Effect probably benign
Transcript: ENSMUST00000155084
SMART Domains Protein: ENSMUSP00000114553
Gene: ENSMUSG00000026211

DomainStartEndE-ValueType
SCOP:d1g1ca_ 2 32 1e-3 SMART
IGc2 64 132 1.48e-6 SMART
IG 153 233 9.49e-5 SMART
IG 241 317 1.04e-1 SMART
FN3 324 407 6.6e-2 SMART
PDB:2E6Q|A 414 520 4e-57 PDB
Blast:IG_like 428 517 2e-50 BLAST
IG 529 610 3.79e-4 SMART
IG 620 699 2.58e-6 SMART
IGc2 717 783 1.12e-6 SMART
IG 802 881 1.27e-5 SMART
IGc2 900 966 4.07e-4 SMART
IGc2 992 1058 9.49e-5 SMART
IG 1080 1159 7.41e-7 SMART
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 multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mice in which this gene has been ablated exhibit sex cord-stromal tumors and symptoms that mimic the human cancer cachexia syndrome. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mutant mice develop gonadal sex cord-stromal tumors with nearly 100% penetrance and develop cachexia-like symptoms. The wasting syndrome is not observed in gonadectomized mutant mice, which develop adrenal tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,073,880 (GRCm39) probably benign Het
Als2 A G 1: 59,235,506 (GRCm39) V726A probably benign Het
Apba1 G A 19: 23,922,269 (GRCm39) G779E possibly damaging Het
Atr T A 9: 95,818,528 (GRCm39) V2167E probably damaging Het
Bod1l T C 5: 41,983,846 (GRCm39) K566E probably damaging Het
Btd T C 14: 31,389,319 (GRCm39) F347L probably benign Het
Btg2 T C 1: 134,006,643 (GRCm39) probably benign Het
Cblb T A 16: 52,003,672 (GRCm39) S717T probably benign Het
Cep250 T A 2: 155,825,198 (GRCm39) probably benign Het
Cep350 T C 1: 155,828,968 (GRCm39) N312S probably benign Het
Clasp1 A T 1: 118,530,107 (GRCm39) T1490S probably damaging Het
Col7a1 T A 9: 108,813,172 (GRCm39) C2906S probably benign Het
Csmd1 C T 8: 16,049,779 (GRCm39) probably null Het
Cspg4 T A 9: 56,793,765 (GRCm39) V500E probably damaging Het
Cyp7b1 T A 3: 18,126,739 (GRCm39) D469V probably damaging Het
Dhh A T 15: 98,792,192 (GRCm39) probably null Het
Dhrs3 A G 4: 144,646,642 (GRCm39) R231G probably damaging Het
Disp3 A G 4: 148,356,495 (GRCm39) S122P probably damaging Het
Dnah1 T C 14: 31,005,955 (GRCm39) I2275V probably benign Het
Dock8 A C 19: 25,109,584 (GRCm39) N922T probably benign Het
Eef1d A G 15: 75,774,945 (GRCm39) L154P probably damaging Het
Eif4ebp1 C A 8: 27,763,510 (GRCm39) P101Q possibly damaging Het
Eif4g1 T G 16: 20,505,502 (GRCm39) probably benign Het
Emb A G 13: 117,369,301 (GRCm39) M50V probably benign Het
Eml4 T C 17: 83,780,568 (GRCm39) probably null Het
Fkbp10 G T 11: 100,306,803 (GRCm39) R65L probably damaging Het
Gm5878 T C 6: 85,095,574 (GRCm39) N83S probably benign Het
Gm8165 C T 14: 43,913,694 (GRCm39) A57T unknown Het
Gpr179 A G 11: 97,228,726 (GRCm39) V1143A probably damaging Het
Hat1 T C 2: 71,251,604 (GRCm39) Y218H probably damaging Het
Hfm1 T A 5: 107,026,689 (GRCm39) N885I probably benign Het
Ift70a1 T A 2: 75,811,193 (GRCm39) M297L probably benign Het
Ints9 T C 14: 65,230,457 (GRCm39) I128T probably damaging Het
Klra9 T C 6: 130,168,149 (GRCm39) probably null Het
Lrba A G 3: 86,683,356 (GRCm39) E2726G probably damaging Het
Lrp1b T C 2: 40,691,410 (GRCm39) N3356D probably benign Het
Map3k5 A G 10: 19,994,038 (GRCm39) D1008G possibly damaging Het
Med4 T A 14: 73,755,415 (GRCm39) L241Q possibly damaging Het
Mtch1 A G 17: 29,557,716 (GRCm39) V254A possibly damaging Het
Napg C T 18: 63,127,375 (GRCm39) probably benign Het
Or1j11 T C 2: 36,312,156 (GRCm39) S249P possibly damaging Het
Or5k1 C T 16: 58,617,843 (GRCm39) R122H probably benign Het
Or7g33 A G 9: 19,449,142 (GRCm39) F28S possibly damaging Het
Or8d2 T C 9: 38,760,222 (GRCm39) S271P probably damaging Het
Or9r3 T A 10: 129,948,487 (GRCm39) R57S probably damaging Het
Pias1 T A 9: 62,830,926 (GRCm39) S161C probably damaging Het
Pias1 G T 9: 62,830,927 (GRCm39) N160K possibly damaging Het
Pigp G A 16: 94,168,466 (GRCm39) P37S probably damaging Het
Pik3c2b T A 1: 133,020,065 (GRCm39) V1070E probably benign Het
Pramel51 G T 12: 88,142,792 (GRCm39) H275Q probably benign Het
Prepl T C 17: 85,378,010 (GRCm39) T457A probably damaging Het
Psg23 G A 7: 18,340,853 (GRCm39) A467V probably benign Het
Rad54l T C 4: 115,980,146 (GRCm39) R13G probably benign Het
Rassf5 T C 1: 131,108,336 (GRCm39) D248G probably damaging Het
Rspo1 A G 4: 124,898,955 (GRCm39) N92S probably damaging Het
Scube1 G A 15: 83,543,217 (GRCm39) probably benign Het
Sec31b C A 19: 44,511,554 (GRCm39) V616F probably damaging Het
Sema3a T C 5: 13,615,881 (GRCm39) V435A probably damaging Het
Slc7a10 T A 7: 34,897,123 (GRCm39) I208N probably damaging Het
Stab2 A T 10: 86,692,420 (GRCm39) M2151K possibly damaging Het
Tacc1 T C 8: 25,665,235 (GRCm39) D50G probably damaging Het
Tas2r121 G T 6: 132,677,480 (GRCm39) T164N probably damaging Het
Tatdn2 T C 6: 113,681,676 (GRCm39) W570R probably damaging Het
Telo2 A T 17: 25,323,628 (GRCm39) F600I probably damaging Het
Trim36 T A 18: 46,305,669 (GRCm39) H426L probably benign Het
Trpm6 A T 19: 18,787,016 (GRCm39) N531Y possibly damaging Het
Ttc39a T C 4: 109,299,920 (GRCm39) C470R probably damaging Het
Ttn C T 2: 76,615,283 (GRCm39) E8485K probably damaging Het
Ubr4 A T 4: 139,196,122 (GRCm39) I1253F probably damaging Het
Unc79 A T 12: 103,088,688 (GRCm39) H1724L possibly damaging Het
Vmn1r40 T A 6: 89,691,998 (GRCm39) C89S probably benign Het
Wdr55 A G 18: 36,896,435 (GRCm39) E375G probably benign Het
Other mutations in Inha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Inha APN 1 75,486,572 (GRCm39) missense probably damaging 1.00
IGL02698:Inha APN 1 75,486,527 (GRCm39) missense probably damaging 1.00
R4555:Inha UTSW 1 75,486,227 (GRCm39) missense possibly damaging 0.86
R7328:Inha UTSW 1 75,486,760 (GRCm39) missense probably damaging 1.00
R9155:Inha UTSW 1 75,486,133 (GRCm39) missense probably benign 0.00
R9161:Inha UTSW 1 75,484,144 (GRCm39) missense probably damaging 1.00
R9478:Inha UTSW 1 75,486,562 (GRCm39) missense probably benign 0.45
R9616:Inha UTSW 1 75,486,211 (GRCm39) missense probably benign
Posted On 2015-04-16