Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Sohlh2'

449145

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

043398-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R5818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55089465-55117378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55097922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 125 (T125A)

Ref Sequence

ENSEMBL: ENSMUSP00000029369 (fasta)

Gene Model

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

AlphaFold

Q9D489

Predicted Effect

probably damaging
Transcript: ENSMUST00000029369
AA Change: T125A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: T125A

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

0.1019

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

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
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cps1	A	T	1: 67,205,647 (GRCm39)	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dgat1	G	A	15: 76,386,407 (GRCm39)		probably benign	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gabrd	G	A	4: 155,472,818 (GRCm39)	P122S	probably damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kash5	C	T	7: 44,843,383 (GRCm39)		probably null	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Tsku	T	C	7: 98,001,305 (GRCm39)	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het
Zscan26	A	G	13: 21,629,931 (GRCm39)	S65P	probably benign	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
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'- CTGGCAAGAAGAAAAACACACATTTG -3'
(R):5'- CCAAGTTAATGCCCTACTTTTTGG -3'

Posted On

2016-12-20