Incidental Mutation 'R5894:Sohlh1'
ID 457347
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 043238-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R5894 (G1)
Quality Score 199
Status Not validated
Chromosome 2
Chromosomal Location 25733007-25737260 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25734679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 205 (S205P)
Ref Sequence ENSEMBL: ENSMUSP00000076253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076989]
AlphaFold Q6IUP1
Predicted Effect possibly damaging
Transcript: ENSMUST00000076989
AA Change: S205P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076253
Gene: ENSMUSG00000059625
AA Change: S205P

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik T A 3: 146,356,680 (GRCm39) E76V probably benign Het
Adcy2 A T 13: 68,773,971 (GRCm39) I1024N probably damaging Het
Agr2 A C 12: 36,045,509 (GRCm39) probably benign Het
Alpk2 T A 18: 65,414,143 (GRCm39) H1991L probably damaging Het
Amotl2 T A 9: 102,602,371 (GRCm39) M448K possibly damaging Het
Ankhd1 T A 18: 36,780,577 (GRCm39) F1876L probably damaging Het
Arl14 T C 3: 69,130,009 (GRCm39) V52A probably benign Het
Atp6v1b2 T A 8: 69,560,218 (GRCm39) probably null Het
Bmal2 A G 6: 146,724,732 (GRCm39) T409A possibly damaging Het
Bpifb4 G A 2: 153,782,852 (GRCm39) R19H possibly damaging Het
Cdh9 T A 15: 16,832,186 (GRCm39) L358I possibly damaging Het
Ces2h T G 8: 105,745,658 (GRCm39) I460M probably benign Het
Cog2 T C 8: 125,272,006 (GRCm39) Y507H probably benign Het
Crlf3 T A 11: 79,948,678 (GRCm39) R256W probably damaging Het
Csdc2 T A 15: 81,832,881 (GRCm39) F96I probably damaging Het
Csk A C 9: 57,535,958 (GRCm39) I264S probably damaging Het
Cyp2c29 G C 19: 39,318,833 (GRCm39) A438P possibly damaging Het
Ddx43 G A 9: 78,324,016 (GRCm39) G449D probably damaging Het
Fbxw18 G T 9: 109,529,235 (GRCm39) A106E possibly damaging Het
Fchsd2 C T 7: 100,840,959 (GRCm39) T156I probably benign Het
Frs2 T A 10: 116,917,011 (GRCm39) probably benign Het
Gm57858 C T 3: 36,074,124 (GRCm39) E342K possibly damaging Het
Grid2ip A T 5: 143,374,666 (GRCm39) T922S probably damaging Het
Grm1 A G 10: 10,955,999 (GRCm39) L95P probably damaging Het
Ift140 T C 17: 25,252,893 (GRCm39) V348A possibly damaging Het
Insr A G 8: 3,224,869 (GRCm39) S200P possibly damaging Het
Ints12 A T 3: 132,804,319 (GRCm39) D102V probably damaging Het
Kank1 A G 19: 25,401,564 (GRCm39) D1057G probably damaging Het
Kng1 T A 16: 22,892,113 (GRCm39) D225E probably benign Het
Lama1 A T 17: 68,086,042 (GRCm39) probably null Het
Lpin2 A G 17: 71,553,929 (GRCm39) D882G probably benign Het
Lrp1b A T 2: 41,388,233 (GRCm39) F464Y probably benign Het
Musk G A 4: 58,373,583 (GRCm39) C836Y probably damaging Het
Mx1 C T 16: 97,255,406 (GRCm39) D216N probably damaging Het
Ndrg3 A T 2: 156,770,698 (GRCm39) N350K probably benign Het
Oas3 G A 5: 120,895,019 (GRCm39) P990L probably damaging Het
Or4c111 T A 2: 88,844,399 (GRCm39) N3I probably damaging Het
Or4c12b T C 2: 89,647,557 (GRCm39) S296P possibly damaging Het
Or6c2 A G 10: 129,362,357 (GRCm39) D87G probably damaging Het
Otoa T C 7: 120,721,092 (GRCm39) L369P probably damaging Het
Plcg2 A G 8: 118,231,088 (GRCm39) T57A probably damaging Het
Prune2 A T 19: 17,098,755 (GRCm39) T1420S possibly damaging Het
Ptpdc1 A G 13: 48,743,798 (GRCm39) F201S probably damaging Het
Rnf214 A G 9: 45,777,916 (GRCm39) V630A probably damaging Het
Rxrb T A 17: 34,254,718 (GRCm39) I181N probably damaging Het
Scrib T C 15: 75,939,581 (GRCm39) N69S probably damaging Het
Scyl2 A G 10: 89,476,681 (GRCm39) S815P probably benign Het
Sgcd A G 11: 47,246,028 (GRCm39) V58A probably damaging Het
Slc13a3 C T 2: 165,266,543 (GRCm39) V374I probably benign Het
Slc22a4 A T 11: 53,888,341 (GRCm39) I229N probably benign Het
Slc44a5 A G 3: 153,962,210 (GRCm39) Y381C probably damaging Het
Spata20 T C 11: 94,374,444 (GRCm39) M308V probably damaging Het
Stag3 T G 5: 138,297,100 (GRCm39) I550R probably damaging Het
Tac2 A G 10: 127,561,971 (GRCm39) E25G possibly damaging Het
Tars2 T C 3: 95,654,964 (GRCm39) probably null Het
Tefm G A 11: 80,031,057 (GRCm39) R60C probably damaging Het
Trem3 T C 17: 48,565,483 (GRCm39) V179A probably benign Het
Trim37 G T 11: 87,092,266 (GRCm39) D692Y probably damaging Het
Trpc4ap T C 2: 155,508,133 (GRCm39) T173A probably benign Het
Unc13c C T 9: 73,600,486 (GRCm39) probably null Het
Usp18 A G 6: 121,238,456 (GRCm39) K201R probably benign Het
Usp35 T A 7: 96,962,284 (GRCm39) Y524F probably damaging Het
Usp53 A G 3: 122,752,734 (GRCm39) F208L probably damaging Het
Vmn1r80 A T 7: 11,927,654 (GRCm39) I255F probably damaging Het
Vstm2a A T 11: 16,211,483 (GRCm39) I98F probably benign Het
Wdfy4 T A 14: 32,855,317 (GRCm39) I766F possibly damaging Het
Wdr17 T A 8: 55,149,335 (GRCm39) Y55F probably damaging Het
Xpot T C 10: 121,449,551 (GRCm39) K172R probably damaging 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
R2161:Sohlh1 UTSW 2 25,734,648 (GRCm39) missense probably benign
R4081:Sohlh1 UTSW 2 25,735,734 (GRCm39) missense probably benign 0.33
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'- AGACTAGTGCTAGGCCATAGG -3'
(R):5'- TGAGCAATCCAAGGCCTAGAG -3'

Sequencing Primer
(F):5'- CATAGGCAGGCCAGTGACAC -3'
(R):5'- AGGCCTAGAGACTACTTTTCCAGG -3'
Posted On 2017-02-15