Incidental Mutation 'R4714:Sohlh2'
ID 353423
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 041956-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.711) question?
Stock # R4714 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 55089465-55117378 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55097950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 134 (H134R)
Ref Sequence ENSEMBL: ENSMUSP00000029369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029369]
AlphaFold Q9D489
Predicted Effect probably benign
Transcript: ENSMUST00000029369
AA Change: H134R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: H134R

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930486L24Rik A G 13: 60,992,132 (GRCm39) V298A probably damaging Het
Abca12 A G 1: 71,360,609 (GRCm39) V534A probably benign Het
Abcb4 A G 5: 8,980,906 (GRCm39) probably null Het
Adam30 A T 3: 98,070,170 (GRCm39) S668C probably damaging Het
Ap1g1 T A 8: 110,556,252 (GRCm39) V196D probably damaging Het
Atp11b G A 3: 35,888,543 (GRCm39) V738I probably benign Het
Cast C T 13: 74,946,834 (GRCm39) V27I probably damaging Het
Cfap54 A G 10: 92,651,780 (GRCm39) I3090T probably benign Het
Cgn C A 3: 94,686,748 (GRCm39) G185W probably damaging Het
Champ1 T C 8: 13,928,063 (GRCm39) Y74H probably damaging Het
Cpm T C 10: 117,511,890 (GRCm39) I278T probably damaging Het
Dcaf15 T C 8: 84,828,845 (GRCm39) T141A probably benign Het
Dcun1d1 C T 3: 35,949,819 (GRCm39) V244M probably damaging Het
Defb8 A G 8: 19,497,575 (GRCm39) L12P probably damaging Het
Dlg1 A T 16: 31,609,079 (GRCm39) I225F probably damaging Het
Dync2h1 G T 9: 7,118,932 (GRCm39) H2178N possibly damaging Het
Enam A G 5: 88,651,395 (GRCm39) E893G probably damaging Het
Flt4 T A 11: 49,518,034 (GRCm39) L358Q probably damaging Het
Frmpd1 A G 4: 45,284,785 (GRCm39) Q1202R probably benign Het
Ghr T A 15: 3,349,879 (GRCm39) D433V possibly damaging Het
Grm7 G A 6: 111,057,383 (GRCm39) D328N possibly damaging Het
Haus4 T C 14: 54,779,577 (GRCm39) D349G probably benign Het
Helz T C 11: 107,517,542 (GRCm39) probably null Het
Hif3a A G 7: 16,790,196 (GRCm39) L69P probably damaging Het
Ifit1 A G 19: 34,625,563 (GRCm39) E233G probably damaging Het
Kcnc2 T C 10: 112,291,733 (GRCm39) F307S possibly damaging Het
Lrp1b A T 2: 41,000,771 (GRCm39) V2151E possibly damaging Het
Lrp5 T C 19: 3,709,454 (GRCm39) N92S probably damaging Het
Metrnl C T 11: 121,606,839 (GRCm39) A216V probably damaging Het
Msh2 A G 17: 88,026,217 (GRCm39) T732A probably damaging Het
Necab2 T C 8: 120,194,334 (GRCm39) L270P probably damaging Het
Noc3l T C 19: 38,804,157 (GRCm39) K74E probably benign Het
Oas2 A T 5: 120,871,537 (GRCm39) L702Q probably damaging Het
Or1j1 A T 2: 36,703,047 (GRCm39) I19N probably benign Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or4k1 A G 14: 50,377,436 (GRCm39) I220T possibly damaging Het
Or4k6 C A 14: 50,475,824 (GRCm39) V173L possibly damaging Het
Or6c216 A T 10: 129,678,814 (GRCm39) N32K probably damaging Het
Pax6 A G 2: 105,525,745 (GRCm39) H376R possibly damaging Het
Pnkd C T 1: 74,390,941 (GRCm39) R376C probably damaging Het
Pnpla8 T C 12: 44,342,696 (GRCm39) F484S probably damaging Het
Psme4 T A 11: 30,782,573 (GRCm39) H909Q probably benign Het
Rasip1 CGG CGGG 7: 45,281,820 (GRCm39) probably null Het
Rbm47 A T 5: 66,182,395 (GRCm39) Y413N probably damaging Het
Rnf123 A G 9: 107,929,638 (GRCm39) probably null Het
Ruvbl1 T A 6: 88,461,412 (GRCm39) M259K possibly damaging Het
Sorbs2 A G 8: 46,248,330 (GRCm39) D447G possibly damaging Het
Tank C T 2: 61,480,573 (GRCm39) P370S probably benign Het
Tenm4 A G 7: 96,544,131 (GRCm39) E2049G probably damaging Het
Tnik A G 3: 28,648,226 (GRCm39) H426R possibly damaging Het
Trpm6 C A 19: 18,831,564 (GRCm39) S1476R possibly damaging Het
Trpm7 G A 2: 126,682,703 (GRCm39) Q389* probably null Het
Ttc28 G A 5: 111,433,095 (GRCm39) R2043Q possibly damaging Het
Tymp A G 15: 89,260,510 (GRCm39) S103P probably damaging Het
Usp40 C T 1: 87,894,901 (GRCm39) probably null Het
Vmn1r202 T A 13: 22,685,977 (GRCm39) N147Y probably damaging Het
Vmn2r89 T C 14: 51,689,688 (GRCm39) S64P probably damaging Het
Vps13a A T 19: 16,727,220 (GRCm39) D229E probably benign Het
Vps52 A G 17: 34,180,153 (GRCm39) I354V probably benign Het
Zbtb8os T C 4: 129,235,557 (GRCm39) F90L probably damaging Het
Zfp36l1 T C 12: 80,157,270 (GRCm39) D37G possibly damaging Het
Zfp467 A G 6: 48,404,751 (GRCm39) S109P unknown Het
Zzef1 T A 11: 72,728,038 (GRCm39) C535S probably damaging 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
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
R6173:Sohlh2 UTSW 3 55,104,419 (GRCm39) missense probably benign 0.26
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'- TTCCCCTCAGATCTGGCAAG -3'
(R):5'- GTGCAATTCCAAGTTAATGCCC -3'

Sequencing Primer
(F):5'- GAAAAACACACATTTGCTGTTTGC -3'
(R):5'- CCAAGTTAATGCCCTACTTTTTGG -3'
Posted On 2015-10-21