Incidental Mutation 'R2161:Sohlh1'
ID 235138
Institutional Source Beutler Lab
Gene Symbol Sohlh1
Ensembl Gene ENSMUSG00000059625
Gene Name spermatogenesis and oogenesis specific basic helix-loop-helix 1
Synonyms LOC227631, NOHLH
MMRRC Submission 040164-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R2161 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 25733007-25737260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25734648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 215 (I215T)
Ref Sequence ENSEMBL: ENSMUSP00000076253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076989]
AlphaFold Q6IUP1
Predicted Effect probably benign
Transcript: ENSMUST00000076989
AA Change: I215T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076253
Gene: ENSMUSG00000059625
AA Change: I215T

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A G 15: 11,215,821 (GRCm39) M281V probably damaging Het
Ap1g1 A T 8: 110,570,986 (GRCm39) D423V probably damaging Het
Arel1 A G 12: 84,968,030 (GRCm39) probably null Het
Arhgap33 T C 7: 30,228,075 (GRCm39) probably null Het
Arhgef18 T G 8: 3,489,575 (GRCm39) Y302* probably null Het
Blm T C 7: 80,131,118 (GRCm39) probably null Het
Cep295 T G 9: 15,264,354 (GRCm39) E97D probably damaging Het
Cep295nl T C 11: 118,223,335 (GRCm39) D503G possibly damaging Het
Chchd2 G T 5: 129,912,989 (GRCm39) A29E probably damaging Het
Cic A G 7: 24,987,559 (GRCm39) probably null Het
Cmtr1 C T 17: 29,921,147 (GRCm39) L798F probably benign Het
Col11a2 C A 17: 34,283,771 (GRCm39) probably benign Het
Crispld2 A G 8: 120,742,078 (GRCm39) Y142C probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dsp G A 13: 38,380,427 (GRCm39) D1792N probably damaging Het
Esp4 C A 17: 40,913,284 (GRCm39) N50K probably benign Het
Fbxo21 T C 5: 118,133,451 (GRCm39) S404P probably damaging Het
Ggnbp2 A G 11: 84,725,259 (GRCm39) F639L probably benign Het
Golph3l G A 3: 95,524,436 (GRCm39) G229D probably damaging Het
Hlx G T 1: 184,459,838 (GRCm39) S433R probably benign Het
Kdm2b T A 5: 123,018,762 (GRCm39) S233C probably damaging Het
Krt14 C T 11: 100,097,939 (GRCm39) G115R unknown Het
Ldb3 A G 14: 34,289,353 (GRCm39) probably null Het
Lrp1 T A 10: 127,391,607 (GRCm39) E2937D probably damaging Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Naa20 T A 2: 145,753,715 (GRCm39) probably null Het
Ndufa8 A T 2: 35,926,527 (GRCm39) W170R probably damaging Het
Nlrp2 A T 7: 5,328,041 (GRCm39) L671I probably damaging Het
Or52e19b T A 7: 103,032,407 (GRCm39) R267S probably benign Het
Or5b108 T A 19: 13,168,673 (GRCm39) I214K probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptpro A G 6: 137,426,885 (GRCm39) D280G probably benign Het
Reps1 A G 10: 17,972,031 (GRCm39) E361G probably damaging Het
Rgs6 A G 12: 83,138,578 (GRCm39) E304G probably damaging Het
Siglece T C 7: 43,308,793 (GRCm39) T187A probably benign Het
Slc5a10 C T 11: 61,610,760 (GRCm39) G5R probably null Het
Stag1 T A 9: 100,771,648 (GRCm39) V691D probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tmed8 A G 12: 87,221,031 (GRCm39) V185A probably damaging Het
Trim71 A G 9: 114,341,840 (GRCm39) F814S probably damaging Het
Trmt9b T C 8: 36,972,804 (GRCm39) C85R probably damaging Het
Tsnax A T 8: 125,742,428 (GRCm39) K52N probably damaging Het
Tubgcp3 T C 8: 12,682,292 (GRCm39) T676A probably benign Het
Other mutations in Sohlh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01621:Sohlh1 APN 2 25,736,873 (GRCm39) splice site probably benign
IGL03116:Sohlh1 APN 2 25,735,660 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CACAGACTAGTGCTAGGCCATAG -3'
(R):5'- GAGCAATCCAAGGCCTAGAGAC -3'

Sequencing Primer
(F):5'- CATAGGCAGGCCAGTGACAC -3'
(R):5'- AGGCCTAGAGACTACTTTTCCAGG -3'
Posted On 2014-10-01