Incidental Mutation 'R6173:Sohlh2'
ID 489123
Institutional Source Beutler Lab
Gene Symbol Sohlh2
Ensembl Gene ENSMUSG00000027794
Gene Name spermatogenesis and oogenesis specific basic helix-loop-helix 2
Synonyms 4933406N12Rik
MMRRC Submission 044316-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # R6173 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 55089465-55117378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 55104419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 263 (V263F)
Ref Sequence ENSEMBL: ENSMUSP00000029369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029369]
AlphaFold Q9D489
Predicted Effect probably benign
Transcript: ENSMUST00000029369
AA Change: V263F

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: V263F

DomainStartEndE-ValueType
HLH 206 257 4.2e-8 SMART
low complexity region 426 446 N/A INTRINSIC
low complexity region 449 461 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (52/54)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous inactivation of this gene leads to female and male infertility due to defects in early oocyte and spermatogonial differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 T C 3: 126,846,395 (GRCm39) D219G probably damaging Het
Arap2 A T 5: 62,906,965 (GRCm39) I18N probably damaging Het
Baz1b T C 5: 135,271,361 (GRCm39) S1315P probably benign Het
Bbs7 A T 3: 36,646,523 (GRCm39) C432* probably null Het
Bend3 A G 10: 43,385,864 (GRCm39) T86A probably benign Het
Cadm2 C T 16: 66,679,729 (GRCm39) V35I probably benign Het
Ch25h A G 19: 34,451,896 (GRCm39) S211P probably damaging Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Chia1 T C 3: 106,036,338 (GRCm39) probably null Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Dazl A T 17: 50,594,599 (GRCm39) M152K probably benign Het
Dnah17 A G 11: 117,930,772 (GRCm39) S3748P probably damaging Het
Dock2 T C 11: 34,212,388 (GRCm39) K1251R probably null Het
Esr1 T C 10: 4,696,760 (GRCm39) V203A probably damaging Het
F830045P16Rik A G 2: 129,305,588 (GRCm39) I262T probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Fshb T C 2: 106,887,638 (GRCm39) E127G possibly damaging Het
Galk2 A G 2: 125,701,137 (GRCm39) probably benign Het
Gid4 A G 11: 60,323,241 (GRCm39) D111G probably damaging Het
Gm14412 G A 2: 177,006,330 (GRCm39) P522S probably damaging Het
Iqank1 A G 15: 75,917,237 (GRCm39) E290G probably damaging Het
Mfap4 A G 11: 61,376,245 (GRCm39) probably null Het
Mfsd2a A G 4: 122,845,039 (GRCm39) V224A probably benign Het
Mocos A T 18: 24,809,639 (GRCm39) Y414F probably benign Het
Mrto4 T C 4: 139,077,755 (GRCm39) I27V probably benign Het
Muc4 A G 16: 32,554,958 (GRCm39) probably benign Het
Mug1 T A 6: 121,840,752 (GRCm39) I534N probably damaging Het
Mup20 A T 4: 61,972,267 (GRCm39) L7Q unknown Het
Nlrp2 T C 7: 5,340,808 (GRCm39) E2G probably damaging Het
Or11g1 A G 14: 50,651,654 (GRCm39) I218V possibly damaging Het
Or12k7 A G 2: 36,959,091 (GRCm39) Y258C possibly damaging Het
Or2y16 T C 11: 49,335,299 (GRCm39) V207A probably benign Het
Or6z5 C T 7: 6,477,835 (GRCm39) A242V probably damaging Het
Parn T C 16: 13,469,675 (GRCm39) T209A possibly damaging Het
Psip1 T A 4: 83,391,286 (GRCm39) probably null Het
Ptprc A C 1: 137,995,628 (GRCm39) C1157G probably damaging Het
Rad17 A C 13: 100,759,389 (GRCm39) V546G probably benign Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Safb A G 17: 56,904,798 (GRCm39) E124G probably damaging Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Skint5 T C 4: 113,392,907 (GRCm39) T1242A unknown Het
Slc13a5 C T 11: 72,144,023 (GRCm39) E352K probably benign Het
Strn A G 17: 79,008,298 (GRCm39) Y107H probably damaging Het
Tbx15 G T 3: 99,161,203 (GRCm39) E3* probably null Het
Tespa1 A G 10: 130,183,172 (GRCm39) D39G probably benign Het
Trp73 A T 4: 154,188,798 (GRCm39) D54E probably damaging Het
Ttll5 A T 12: 85,980,151 (GRCm39) S912C probably damaging Het
Utp14b A T 1: 78,643,554 (GRCm39) D484V probably benign Het
Utp14b A C 1: 78,643,557 (GRCm39) N485T probably benign Het
Vmn2r29 T C 7: 7,234,369 (GRCm39) E839G probably benign Het
Vmn2r6 G C 3: 64,467,176 (GRCm39) P108A probably damaging Het
Vps8 T G 16: 21,314,682 (GRCm39) probably null Het
Zfp36l1 A T 12: 80,156,320 (GRCm39) probably null Het
Zfp998 T A 13: 66,579,608 (GRCm39) T292S probably benign Het
Zp3r A T 1: 130,519,305 (GRCm39) probably null Het
Other mutations in Sohlh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Sohlh2 APN 3 55,115,236 (GRCm39) missense probably damaging 1.00
IGL00574:Sohlh2 APN 3 55,111,747 (GRCm39) splice site probably benign
IGL01434:Sohlh2 APN 3 55,102,582 (GRCm39) missense probably damaging 1.00
IGL02200:Sohlh2 APN 3 55,097,977 (GRCm39) missense probably damaging 1.00
G1citation:Sohlh2 UTSW 3 55,115,107 (GRCm39) missense probably damaging 1.00
R0362:Sohlh2 UTSW 3 55,115,163 (GRCm39) missense probably damaging 1.00
R0540:Sohlh2 UTSW 3 55,115,104 (GRCm39) missense probably damaging 0.99
R0607:Sohlh2 UTSW 3 55,115,104 (GRCm39) missense probably damaging 0.99
R0732:Sohlh2 UTSW 3 55,097,794 (GRCm39) critical splice donor site probably null
R1878:Sohlh2 UTSW 3 55,115,064 (GRCm39) missense probably damaging 0.97
R2001:Sohlh2 UTSW 3 55,099,762 (GRCm39) splice site probably null
R2070:Sohlh2 UTSW 3 55,115,043 (GRCm39) missense probably benign 0.18
R2071:Sohlh2 UTSW 3 55,115,043 (GRCm39) missense probably benign 0.18
R4412:Sohlh2 UTSW 3 55,104,423 (GRCm39) missense probably damaging 1.00
R4413:Sohlh2 UTSW 3 55,104,423 (GRCm39) missense probably damaging 1.00
R4714:Sohlh2 UTSW 3 55,097,950 (GRCm39) missense probably benign 0.00
R5709:Sohlh2 UTSW 3 55,099,723 (GRCm39) missense probably benign 0.03
R5818:Sohlh2 UTSW 3 55,097,922 (GRCm39) missense probably damaging 1.00
R6822:Sohlh2 UTSW 3 55,115,107 (GRCm39) missense probably damaging 1.00
R6850:Sohlh2 UTSW 3 55,099,707 (GRCm39) missense probably benign 0.05
R8943:Sohlh2 UTSW 3 55,104,282 (GRCm39) missense possibly damaging 0.71
R9789:Sohlh2 UTSW 3 55,099,721 (GRCm39) missense probably damaging 1.00
X0023:Sohlh2 UTSW 3 55,104,197 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AGTTGATTATGTGAAGCAGGTCC -3'
(R):5'- TGATCAGAACTGGCAGTGGG -3'

Sequencing Primer
(F):5'- AGGTCCGGGAGTCTCTCTCTC -3'
(R):5'- GGAGACAGTCGTGAATCCCTAAC -3'
Posted On 2017-10-10