Incidental Mutation 'IGL03116:Sohlh1'
ID 419445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sohlh1
Ensembl Gene ENSMUSG00000059625
Gene Name spermatogenesis and oogenesis specific basic helix-loop-helix 1
Synonyms LOC227631, NOHLH
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # IGL03116
Quality Score
Status
Chromosome 2
Chromosomal Location 25733007-25737260 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 25735660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076989] [ENSMUST00000076989]
AlphaFold Q6IUP1
Predicted Effect probably null
Transcript: ENSMUST00000076989
SMART Domains Protein: ENSMUSP00000076253
Gene: ENSMUSG00000059625

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
HLH 60 110 7.88e-2 SMART
low complexity region 177 188 N/A INTRINSIC
low complexity region 200 213 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000076989
SMART Domains Protein: ENSMUSP00000076253
Gene: ENSMUSG00000059625

DomainStartEndE-ValueType
low complexity region 32 45 N/A INTRINSIC
HLH 60 110 7.88e-2 SMART
low complexity region 177 188 N/A INTRINSIC
low complexity region 200 213 N/A INTRINSIC
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 encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Targeted mutation of this gene results in abnormalities in male reproductive physiology including spermatocyte production and testis morphologly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik T C X: 12,535,892 (GRCm39) probably benign Het
9530068E07Rik A G 11: 52,294,331 (GRCm39) I199V probably benign Het
Aasdh A T 5: 77,049,936 (GRCm39) probably null Het
Aatk T C 11: 119,907,577 (GRCm39) I84V probably benign Het
Adcy1 A G 11: 7,100,071 (GRCm39) H727R probably benign Het
Aff2 T C X: 68,878,092 (GRCm39) V626A probably benign Het
Ano2 C A 6: 125,957,134 (GRCm39) Y634* probably null Het
Apob C A 12: 8,066,350 (GRCm39) Q4407K probably damaging Het
Asz1 T C 6: 18,076,642 (GRCm39) probably benign Het
Atp2b4 T G 1: 133,656,506 (GRCm39) T715P possibly damaging Het
Brip1 G T 11: 85,955,735 (GRCm39) S926* probably null Het
Cpd A T 11: 76,702,539 (GRCm39) Y610N probably damaging Het
Dennd4c T C 4: 86,707,057 (GRCm39) probably benign Het
Dido1 G A 2: 180,312,772 (GRCm39) T1041I probably damaging Het
Dpp8 A T 9: 64,973,749 (GRCm39) T658S probably damaging Het
Efcab3 T A 11: 104,612,359 (GRCm39) S661T probably benign Het
Fcer1a G A 1: 173,049,128 (GRCm39) Q172* probably null Het
Frem3 A G 8: 81,339,435 (GRCm39) E576G possibly damaging Het
Gcsam T C 16: 45,440,431 (GRCm39) F136S possibly damaging Het
Glmn T G 5: 107,698,949 (GRCm39) T430P probably damaging Het
Gm5934 T C X: 24,340,931 (GRCm39) N194S probably benign Het
Gpatch11 T A 17: 79,151,282 (GRCm39) L231* probably null Het
Hibadh A T 6: 52,525,917 (GRCm39) N244K probably damaging Het
Kank2 A G 9: 21,684,060 (GRCm39) V723A probably damaging Het
Kcnn2 A T 18: 45,788,273 (GRCm39) D192V probably damaging Het
Ksr2 G A 5: 117,846,022 (GRCm39) E630K probably benign Het
Lmod3 T C 6: 97,224,156 (GRCm39) H555R possibly damaging Het
Mycs A G X: 5,380,922 (GRCm39) F53L probably damaging Het
Ndufa10 G A 1: 92,392,109 (GRCm39) Q215* probably null Het
Ninl C T 2: 150,806,139 (GRCm39) A361T probably damaging Het
Pbsn A G X: 76,891,624 (GRCm39) C58R probably damaging Het
Pcsk1 T A 13: 75,280,335 (GRCm39) L720Q probably damaging Het
Prss12 T C 3: 123,299,925 (GRCm39) F679L probably benign Het
Sspo T C 6: 48,471,035 (GRCm39) F701L probably benign Het
Tdp1 T C 12: 99,921,290 (GRCm39) S609P probably benign Het
Tmtc4 T A 14: 123,165,044 (GRCm39) N605I probably benign Het
Tnc G A 4: 63,932,270 (GRCm39) P715S probably damaging Het
Ubn2 T C 6: 38,468,834 (GRCm39) S1181P probably damaging Het
Ubr4 T C 4: 139,206,892 (GRCm39) probably benign Het
Vmn1r46 T C 6: 89,953,898 (GRCm39) F249S probably benign Het
Zfp382 T C 7: 29,833,614 (GRCm39) S422P probably damaging Het
Other mutations in Sohlh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Sohlh1 APN 2 25,736,873 (GRCm39) splice site probably benign
R0172:Sohlh1 UTSW 2 25,736,215 (GRCm39) splice site probably null
R1465:Sohlh1 UTSW 2 25,733,359 (GRCm39) missense probably damaging 1.00
R1465:Sohlh1 UTSW 2 25,733,359 (GRCm39) missense probably damaging 1.00
R2161:Sohlh1 UTSW 2 25,734,648 (GRCm39) missense probably benign
R4081:Sohlh1 UTSW 2 25,735,734 (GRCm39) missense probably benign 0.33
R5894:Sohlh1 UTSW 2 25,734,679 (GRCm39) missense possibly damaging 0.73
R7715:Sohlh1 UTSW 2 25,734,640 (GRCm39) missense possibly damaging 0.73
R7809:Sohlh1 UTSW 2 25,735,289 (GRCm39) missense probably benign 0.18
Posted On 2016-08-02