Incidental Mutation 'IGL02360:Lhb'
ID 290459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhb
Ensembl Gene ENSMUSG00000100916
Gene Name luteinizing hormone beta
Synonyms LH, leutropin, Gm29035
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL02360
Quality Score
Status
Chromosome 7
Chromosomal Location 45070370-45071278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45070718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 32 (V32A)
Ref Sequence ENSEMBL: ENSMUSP00000072276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058879] [ENSMUST00000072453] [ENSMUST00000107771] [ENSMUST00000210271] [ENSMUST00000210439] [ENSMUST00000211214] [ENSMUST00000211666]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000058879
SMART Domains Protein: ENSMUSP00000057916
Gene: ENSMUSG00000074121

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 50 74 N/A INTRINSIC
NGF 88 201 8.06e-83 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000072453
AA Change: V32A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072276
Gene: ENSMUSG00000100916
AA Change: V32A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
GHB 25 131 2.2e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107771
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127256
AA Change: V627A
Predicted Effect probably benign
Transcript: ENSMUST00000209426
Predicted Effect probably benign
Transcript: ENSMUST00000210271
Predicted Effect probably benign
Transcript: ENSMUST00000210439
Predicted Effect probably benign
Transcript: ENSMUST00000211214
Predicted Effect probably benign
Transcript: ENSMUST00000211440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211478
Predicted Effect probably benign
Transcript: ENSMUST00000211666
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone (LH). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. LH is expressed in the pituitary gland and promotes spermatogenesis and ovulation by stimulating the testes and ovaries to synthesize steroids. The genes for the beta chains of chorionic gonadotropin and for luteinizing hormone are contiguous on chromosome 19q13.3. Mutations in this gene are associated with hypogonadism which is characterized by infertility and pseudohermaphroditism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display male and female infertility, hypogonadism, azoospermia, absent corpora lutea, degenerating oocytes, and reduced serum levels of estradiol, progesterone, and testosterone. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A T 19: 40,566,364 (GRCm39) V102D probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Casp6 C T 3: 129,704,175 (GRCm39) S87L probably damaging Het
Ccdc121rt1 T C 1: 181,338,190 (GRCm39) E254G possibly damaging Het
Ccnl1 A C 3: 65,856,141 (GRCm39) C255G probably damaging Het
Celf4 T C 18: 25,619,955 (GRCm39) I485M probably damaging Het
Cntln A G 4: 84,968,087 (GRCm39) R769G probably damaging Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Dgki T C 6: 36,824,324 (GRCm39) E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 (GRCm39) N607S probably benign Het
Fgd4 T C 16: 16,279,909 (GRCm39) I383V probably damaging Het
Fgd6 C T 10: 93,974,258 (GRCm39) T1333I possibly damaging Het
Got1 A G 19: 43,512,882 (GRCm39) S5P probably damaging Het
Herc2 T A 7: 55,764,560 (GRCm39) N995K probably damaging Het
Kcnma1 A G 14: 23,641,681 (GRCm39) F159S probably damaging Het
Krt87 T C 15: 101,383,339 (GRCm39) S456G probably benign Het
Mau2 A T 8: 70,472,288 (GRCm39) V602E probably damaging Het
Mpst C T 15: 78,294,285 (GRCm39) L6F probably damaging Het
Nlrp2 G A 7: 5,340,598 (GRCm39) T72I probably damaging Het
Or8g20 A G 9: 39,396,444 (GRCm39) I32T probably benign Het
Phldb2 T C 16: 45,569,142 (GRCm39) Y1239C probably damaging Het
Slc22a8 T C 19: 8,585,619 (GRCm39) F328S possibly damaging Het
Sult2a3 G A 7: 13,855,575 (GRCm39) R94* probably null Het
Syt16 A G 12: 74,176,245 (GRCm39) N38S probably damaging Het
Tbc1d1 G A 5: 64,414,179 (GRCm39) R180Q probably damaging Het
Ush2a T C 1: 188,460,635 (GRCm39) I2632T probably benign Het
Vcam1 T A 3: 115,909,543 (GRCm39) I595F possibly damaging Het
Other mutations in Lhb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02353:Lhb APN 7 45,070,718 (GRCm39) missense possibly damaging 0.64
R1872:Lhb UTSW 7 45,070,757 (GRCm39) missense probably damaging 0.96
R4327:Lhb UTSW 7 45,070,383 (GRCm39) missense possibly damaging 0.93
R7564:Lhb UTSW 7 45,071,101 (GRCm39) missense probably damaging 0.99
R8370:Lhb UTSW 7 45,071,066 (GRCm39) missense probably damaging 0.98
Y5377:Lhb UTSW 7 45,070,723 (GRCm39) missense probably benign 0.09
Z1088:Lhb UTSW 7 45,071,154 (GRCm39) splice site probably null
Posted On 2015-04-16