Mutagenetix > Incidental Mutation

Incidental Mutation 'R6850:Sohlh2'

535582

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

044954-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.711) question?

Stock #

R6850 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55089465-55117378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55099707 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 160 (T160S)

Ref Sequence

ENSEMBL: ENSMUSP00000029369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029369]

AlphaFold

Q9D489

Predicted Effect

probably benign
Transcript: ENSMUST00000029369
AA Change: T160S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: T160S

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,270,318 (GRCm39)	M927V	probably benign	Het
Agr2	A	G	12: 36,045,558 (GRCm39)	I15V	probably benign	Het
Alpk1	A	G	3: 127,523,012 (GRCm39)	I10T	possibly damaging	Het
Art5	A	G	7: 101,747,302 (GRCm39)	V159A	possibly damaging	Het
Asz1	G	A	6: 18,108,942 (GRCm39)	R32W	probably benign	Het
Atp8b1	A	C	18: 64,689,923 (GRCm39)	M603R	possibly damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Car9	A	G	4: 43,507,321 (GRCm39)	E3G	probably damaging	Het
Cpne3	A	T	4: 19,535,231 (GRCm39)	I267N	possibly damaging	Het
Cyp2c65	T	A	19: 39,057,535 (GRCm39)	F57I	probably benign	Het
D430041D05Rik	T	C	2: 104,031,604 (GRCm39)	K980R	probably damaging	Het
Dnhd1	G	T	7: 105,369,137 (GRCm39)	G4303W	possibly damaging	Het
Dnmt3a	A	G	12: 3,947,600 (GRCm39)	N485D	probably benign	Het
Dusp4	A	T	8: 35,283,651 (GRCm39)	K166*	probably null	Het
Ect2	T	C	3: 27,193,034 (GRCm39)	D344G	probably damaging	Het
Eif2b1	T	C	5: 124,717,069 (GRCm39)	D3G	probably benign	Het
Ermp1	A	G	19: 29,594,041 (GRCm39)	Y710H	probably damaging	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
H2-T10	A	G	17: 36,430,152 (GRCm39)	L263P	probably damaging	Het
Iqcn	A	T	8: 71,163,425 (GRCm39)	N873Y	probably damaging	Het
Itga7	A	T	10: 128,781,385 (GRCm39)	I621F	probably damaging	Het
Kcna3	A	T	3: 106,944,475 (GRCm39)	D246V	probably damaging	Het
Kctd12	C	T	14: 103,219,414 (GRCm39)	G155S	probably benign	Het
Lrtm1	T	C	14: 28,749,407 (GRCm39)	V256A	probably benign	Het
Mcf2l	T	C	8: 13,059,476 (GRCm39)	F629L	possibly damaging	Het
Mphosph9	A	G	5: 124,399,019 (GRCm39)	F999L	probably damaging	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Obscn	C	T	11: 58,958,950 (GRCm39)	V3643M	possibly damaging	Het
Obscn	C	T	11: 58,892,955 (GRCm39)	A6764T	possibly damaging	Het
Or4c102	T	A	2: 88,422,650 (GRCm39)	C167*	probably null	Het
Or8g18	T	C	9: 39,149,271 (GRCm39)	I150V	probably benign	Het
Pdhx	T	C	2: 102,871,445 (GRCm39)	H195R	probably damaging	Het
Pdilt	A	T	7: 119,086,182 (GRCm39)	V511E	probably damaging	Het
Prima1	C	T	12: 103,163,594 (GRCm39)	D126N	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Prune2	C	A	19: 17,099,552 (GRCm39)	D1685E	probably benign	Het
Ptgs2	A	T	1: 149,981,291 (GRCm39)	I525F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,441 (GRCm39)	F259I	possibly damaging	Het
Ranbp3l	C	A	15: 9,058,808 (GRCm39)	D216E	probably damaging	Het
Scn5a	A	T	9: 119,330,815 (GRCm39)	L1240Q	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Spata31h1	A	C	10: 82,128,888 (GRCm39)	M1374R	possibly damaging	Het
Tank	A	G	2: 61,480,346 (GRCm39)	E294G	probably benign	Het
Tars1	T	A	15: 11,392,885 (GRCm39)	Y187F	probably benign	Het
Tas2r144	T	A	6: 42,192,857 (GRCm39)	M199K	possibly damaging	Het
Tdrd3	T	C	14: 87,695,515 (GRCm39)		probably benign	Het
Tecta	T	A	9: 42,255,134 (GRCm39)	D1683V	probably benign	Het
Tln2	A	G	9: 67,165,817 (GRCm39)	I2098T	probably damaging	Het
Tmie	A	G	9: 110,695,980 (GRCm39)	I137T	possibly damaging	Het
Trim45	T	A	3: 100,830,541 (GRCm39)	L105*	probably null	Het
Trpv3	G	A	11: 73,182,519 (GRCm39)	G568S	probably damaging	Het
Wdr75	A	G	1: 45,853,758 (GRCm39)	T390A	probably benign	Het
Wdr97	A	G	15: 76,241,996 (GRCm39)	Y763C	probably damaging	Het
Zfp35	G	A	18: 24,135,839 (GRCm39)	R61H	possibly damaging	Het

Other mutations in Sohlh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCAGCCTTTCATTGAAACTTTC -3'
(R):5'- AGGCTGTCACCTGTCTTCCTAG -3'

Sequencing Primer
(F):5'- CAGCCTTTCATTGAAACTTTCTAATC -3'
(R):5'- TCCTAGGAAGAGCCCTTCTC -3'

Posted On

2018-09-12