Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Sohlh2'

327956

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

041135-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55182028-55209957 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55197002 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 264 (T264K)

Ref Sequence

ENSEMBL: ENSMUSP00000029369 (fasta)

Gene Model

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

AlphaFold

Q9D489

Predicted Effect

probably damaging
Transcript: ENSMUST00000029369
AA Change: T264K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029369
Gene: ENSMUSG00000027794
AA Change: T264K

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

0.1175

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,577,453 (GRCm38)		probably benign	Het
Adprhl1	T	C	8: 13,246,114 (GRCm38)	K144E	probably benign	Het
Alpl	A	G	4: 137,758,628 (GRCm38)	I2T	possibly damaging	Het
Chdh	G	T	14: 30,031,715 (GRCm38)	G194C	probably damaging	Het
Cp	A	T	3: 19,966,353 (GRCm38)	D170V	probably damaging	Het
Cpne9	A	G	6: 113,290,001 (GRCm38)	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 26,198,443 (GRCm38)	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,848,761 (GRCm38)	N153S	probably benign	Het
Dnah17	T	C	11: 118,073,683 (GRCm38)	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,806,205 (GRCm38)		probably benign	Het
Eipr1	A	T	12: 28,859,373 (GRCm38)	D213V	probably damaging	Het
Fat1	T	C	8: 45,023,599 (GRCm38)	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,780,273 (GRCm38)	V462I	probably benign	Het
Gigyf2	A	G	1: 87,436,860 (GRCm38)	E954G	probably damaging	Het
Glis1	A	G	4: 107,634,718 (GRCm38)	H593R	probably damaging	Het
Gpr21	C	G	2: 37,517,432 (GRCm38)		probably benign	Het
Gsdmc3	A	G	15: 63,866,796 (GRCm38)	M139T	probably benign	Het
Hydin	C	T	8: 110,415,736 (GRCm38)	T749I	probably damaging	Het
Ilf3	C	T	9: 21,399,560 (GRCm38)	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,102,874 (GRCm38)	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,230,443 (GRCm38)	N33S	probably benign	Het
Nisch	A	G	14: 31,186,658 (GRCm38)		probably benign	Het
Npr2	G	A	4: 43,644,150 (GRCm38)	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,149 (GRCm38)	T164R	probably benign	Het
Olfr1231	A	G	2: 89,303,340 (GRCm38)	I84T	probably benign	Het
Palld	A	G	8: 61,687,372 (GRCm38)	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,414,141 (GRCm38)		probably null	Het
Plekhg3	A	C	12: 76,577,764 (GRCm38)	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,130,665 (GRCm38)	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511 (GRCm38)	V399A	probably benign	Het
Rpp30	T	A	19: 36,100,255 (GRCm38)	N172K	possibly damaging	Het
Sin3b	C	T	8: 72,739,779 (GRCm38)	A291V	probably benign	Het
Slc12a6	A	T	2: 112,335,888 (GRCm38)	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,908,394 (GRCm38)	T249M	probably damaging	Het
Srrm2	A	G	17: 23,810,468 (GRCm38)		probably benign	Het
Syne2	T	A	12: 76,106,060 (GRCm38)	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,335,232 (GRCm38)		probably null	Het
Vmn1r115	C	T	7: 20,844,282 (GRCm38)	R235K	probably benign	Het
Vmn2r50	A	C	7: 10,050,308 (GRCm38)	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,175,187 (GRCm38)	R236H	probably damaging	Het

Other mutations in Sohlh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Sohlh2	APN	3	55,207,815 (GRCm38)	missense	probably damaging	1.00
IGL00574:Sohlh2	APN	3	55,204,326 (GRCm38)	splice site	probably benign
IGL01434:Sohlh2	APN	3	55,195,161 (GRCm38)	missense	probably damaging	1.00
IGL02200:Sohlh2	APN	3	55,190,556 (GRCm38)	missense	probably damaging	1.00
G1citation:Sohlh2	UTSW	3	55,207,686 (GRCm38)	missense	probably damaging	1.00
R0362:Sohlh2	UTSW	3	55,207,742 (GRCm38)	missense	probably damaging	1.00
R0540:Sohlh2	UTSW	3	55,207,683 (GRCm38)	missense	probably damaging	0.99
R0607:Sohlh2	UTSW	3	55,207,683 (GRCm38)	missense	probably damaging	0.99
R0732:Sohlh2	UTSW	3	55,190,373 (GRCm38)	critical splice donor site	probably null
R1878:Sohlh2	UTSW	3	55,207,643 (GRCm38)	missense	probably damaging	0.97
R2001:Sohlh2	UTSW	3	55,192,341 (GRCm38)	splice site	probably null
R2070:Sohlh2	UTSW	3	55,207,622 (GRCm38)	missense	probably benign	0.18
R2071:Sohlh2	UTSW	3	55,207,622 (GRCm38)	missense	probably benign	0.18
R4413:Sohlh2	UTSW	3	55,197,002 (GRCm38)	missense	probably damaging	1.00
R4714:Sohlh2	UTSW	3	55,190,529 (GRCm38)	missense	probably benign	0.00
R5709:Sohlh2	UTSW	3	55,192,302 (GRCm38)	missense	probably benign	0.03
R5818:Sohlh2	UTSW	3	55,190,501 (GRCm38)	missense	probably damaging	1.00
R6173:Sohlh2	UTSW	3	55,196,998 (GRCm38)	missense	probably benign	0.26
R6822:Sohlh2	UTSW	3	55,207,686 (GRCm38)	missense	probably damaging	1.00
R6850:Sohlh2	UTSW	3	55,192,286 (GRCm38)	missense	probably benign	0.05
R8943:Sohlh2	UTSW	3	55,196,861 (GRCm38)	missense	possibly damaging	0.71
R9789:Sohlh2	UTSW	3	55,192,300 (GRCm38)	missense	probably damaging	1.00
X0023:Sohlh2	UTSW	3	55,196,776 (GRCm38)	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

2015-07-07