Incidental Mutation 'R0172:Sohlh1'
ID 24254
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 038444-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # R0172 (G1)
Quality Score 221
Status Not validated
Chromosome 2
Chromosomal Location 25733007-25737260 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 25736215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076253 (fasta)
Gene Model predicted gene model for transcript(s): [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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.4%
Validation Efficiency 82% (40/49)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,645,578 (GRCm39) C488S probably damaging Het
Abca12 T G 1: 71,318,561 (GRCm39) D1814A probably damaging Het
Acp7 T C 7: 28,314,549 (GRCm39) N272S possibly damaging Het
Ank3 T C 10: 69,811,888 (GRCm39) V1145A probably damaging Het
Ap1m2 A T 9: 21,209,628 (GRCm39) probably null Het
Atp12a T C 14: 56,610,301 (GRCm39) V224A probably damaging Het
Cdh23 T C 10: 60,155,411 (GRCm39) E2253G probably damaging Het
Cep350 T C 1: 155,829,193 (GRCm39) N237S probably benign Het
Crispld2 T C 8: 120,752,810 (GRCm39) V286A possibly damaging Het
Cyp2c65 G T 19: 39,076,100 (GRCm39) V351L possibly damaging Het
D130043K22Rik T C 13: 25,056,389 (GRCm39) F574L probably benign Het
Dag1 G A 9: 108,086,031 (GRCm39) T370M possibly damaging Het
Dmwd C T 7: 18,814,267 (GRCm39) R306C probably damaging Het
Dnah11 T C 12: 117,951,188 (GRCm39) Y3040C probably damaging Het
Dst C A 1: 34,309,935 (GRCm39) H1536Q probably damaging Het
Eif3j1 A G 2: 121,882,246 (GRCm39) I202V probably benign Het
Epg5 T A 18: 78,070,574 (GRCm39) V2283D probably benign Het
Evi5 T C 5: 107,938,328 (GRCm39) N625S probably benign Het
Exosc10 T C 4: 148,649,814 (GRCm39) S415P probably benign Het
F830016B08Rik G T 18: 60,433,036 (GRCm39) D40Y possibly damaging Het
Fam118a A G 15: 84,929,951 (GRCm39) I60V probably benign Het
Fam186a A T 15: 99,852,768 (GRCm39) M150K unknown Het
Fam193a C T 5: 34,622,957 (GRCm39) R1182W probably damaging Het
Fastkd2 T A 1: 63,771,187 (GRCm39) I181K possibly damaging Het
Hip1r T A 5: 124,135,003 (GRCm39) Y380N possibly damaging Het
Hivep2 C A 10: 14,015,218 (GRCm39) P1795Q probably damaging Het
Hnrnpab T C 11: 51,493,494 (GRCm39) E238G probably damaging Het
Kcnma1 C T 14: 23,853,234 (GRCm39) A172T probably damaging Het
Lipg G T 18: 75,081,245 (GRCm39) H279N possibly damaging Het
Lrrc9 A G 12: 72,510,260 (GRCm39) D453G possibly damaging Het
Map1s T A 8: 71,367,612 (GRCm39) M839K probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myo1h T A 5: 114,467,225 (GRCm39) probably null Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nrn1 T C 13: 36,914,544 (GRCm39) R19G probably benign Het
Nwd2 T C 5: 63,963,712 (GRCm39) Y1099H probably benign Het
Nxpe2 G A 9: 48,231,209 (GRCm39) R387C possibly damaging Het
Or2a25 T C 6: 42,888,913 (GRCm39) V152A probably benign Het
Pappa2 C T 1: 158,682,419 (GRCm39) probably null Het
Pcdhb13 A T 18: 37,575,990 (GRCm39) I123L probably benign Het
Plcg2 A G 8: 118,306,521 (GRCm39) T292A probably benign Het
Pnpla8 T A 12: 44,358,111 (GRCm39) V469D probably damaging Het
Pop4 T C 7: 37,962,679 (GRCm39) Y195C probably damaging Het
Rbsn A T 6: 92,188,588 (GRCm39) D42E probably damaging Het
Sclt1 A T 3: 41,672,222 (GRCm39) I123N possibly damaging Het
Slc22a27 C A 19: 7,843,201 (GRCm39) G393* probably null Het
Smu1 C T 4: 40,738,439 (GRCm39) V432I probably benign Het
Spta1 T A 1: 174,058,352 (GRCm39) I1940K probably damaging Het
Sufu G T 19: 46,385,563 (GRCm39) V8F possibly damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem184b A G 15: 79,262,740 (GRCm39) V39A possibly damaging Het
Tmem236 A G 2: 14,223,694 (GRCm39) D161G probably benign Het
Ufl1 T C 4: 25,280,685 (GRCm39) K54R probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T 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
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
Predicted Primers PCR Primer
(F):5'- TGGCATCACATACGGGCAACAC -3'
(R):5'- ACCAGAACAGAGCTGCTGCTTCAG -3'

Sequencing Primer
(F):5'- CTTGCCCCCTAAGGAGAATAC -3'
(R):5'- TTCCAATGGGACAGGGCTG -3'
Posted On 2013-04-16