Mutagenetix > Incidental Mutation

Incidental Mutation 'R6357:Spmap2'

512385

Institutional Source

Beutler Lab

Gene Symbol

Spmap2

Ensembl Gene

ENSMUSG00000020317

Gene Name

sperm microtubule associated protein 2

Synonyms

Theg

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6357 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79412311-79422970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79422789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 38 (S38G)

Ref Sequence

ENSEMBL: ENSMUSP00000076647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020566] [ENSMUST00000077433]

AlphaFold

Q9JMB1

Predicted Effect

probably benign
Transcript: ENSMUST00000020566
AA Change: S38G

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020566
Gene: ENSMUSG00000020317
AA Change: S38G

Domain	Start	End	E-Value	Type
THEG	9	28	1.68e2	SMART
low complexity region	58	73	N/A	INTRINSIC
THEG	110	129	2.22e-2	SMART
THEG	176	195	4.69e-1	SMART
THEG	214	233	9.16e-4	SMART
THEG	250	269	7.22e-2	SMART
THEG	282	301	2.31e0	SMART
THEG	318	337	4.45e-2	SMART
THEG	352	371	1.96e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077433
AA Change: S38G

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076647
Gene: ENSMUSG00000020317
AA Change: S38G

Domain	Start	End	E-Value	Type
THEG	9	28	6.2e-1	SMART
low complexity region	58	73	N/A	INTRINSIC
THEG	110	129	7.8e-5	SMART
THEG	152	171	1.7e-3	SMART
THEG	190	209	3.3e-6	SMART
THEG	226	245	2.5e-4	SMART
THEG	258	277	8.3e-3	SMART
THEG	294	313	1.6e-4	SMART
THEG	328	347	7e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.8%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Males homozygotes for a transgenic insertional mutation are sterile due to a block in spermiogenesis. Testis weights are reduced, and mutants exhibit multiple abnormalities in elongated spermatids in the seminiferous tubule lumen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,184,591 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,907,908 (GRCm39)	M303V	probably benign	Het
Armh4	A	T	14: 50,010,769 (GRCm39)	S313T	probably benign	Het
Calcr	T	C	6: 3,714,710 (GRCm39)	D140G	probably benign	Het
Card10	T	C	15: 78,683,579 (GRCm39)	E188G	probably damaging	Het
Cenpq	T	C	17: 41,235,418 (GRCm39)	E193G	probably damaging	Het
Cep164	G	A	9: 45,682,182 (GRCm39)	L1874F	probably damaging	Het
Dennd3	T	C	15: 73,428,321 (GRCm39)	M889T	possibly damaging	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dynlt2b	T	G	16: 32,247,873 (GRCm39)		probably null	Het
Eci2	A	G	13: 35,177,082 (GRCm39)	V26A	possibly damaging	Het
Eftud2	A	T	11: 102,755,606 (GRCm39)	N200K	probably damaging	Het
Eml5	T	A	12: 98,837,143 (GRCm39)	H357L	probably damaging	Het
Esam	T	C	9: 37,449,076 (GRCm39)	*395R	probably null	Het
Galt	C	T	4: 41,757,565 (GRCm39)	P246S	probably benign	Het
Gjb3	A	T	4: 127,220,423 (GRCm39)	Y36*	probably null	Het
Gli2	T	C	1: 118,769,689 (GRCm39)	E621G	probably damaging	Het
Gls	T	C	1: 52,258,665 (GRCm39)	D201G	probably damaging	Het
Gm10801	C	CGTCA	2: 98,494,152 (GRCm39)		probably null	Het
Gm1110	T	C	9: 26,825,424 (GRCm39)		probably null	Het
Gm5565	T	A	5: 146,097,283 (GRCm39)	H13L	possibly damaging	Het
Hydin	A	C	8: 111,268,289 (GRCm39)	T2923P	possibly damaging	Het
Kank1	A	T	19: 25,388,717 (GRCm39)	I797L	probably benign	Het
Klhdc8a	A	T	1: 132,230,891 (GRCm39)	Q252L	probably damaging	Het
Kmt5c	T	C	7: 4,745,204 (GRCm39)	F65S	possibly damaging	Het
Lix1	C	T	17: 17,666,255 (GRCm39)	P138L	probably benign	Het
Lnpep	T	C	17: 17,773,176 (GRCm39)	N664S	probably benign	Het
Msh6	T	A	17: 88,291,888 (GRCm39)	Y214*	probably null	Het
Nefl	A	G	14: 68,321,767 (GRCm39)	E119G	probably damaging	Het
Nptxr	C	A	15: 79,678,516 (GRCm39)	R257L	possibly damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Or7e173	T	A	9: 19,938,925 (GRCm39)	Q103L	probably damaging	Het
Oxct2b	A	G	4: 123,010,709 (GRCm39)	I210V	probably benign	Het
Plppr3	T	A	10: 79,701,240 (GRCm39)	Q534L	probably benign	Het
Psma1	T	C	7: 113,873,602 (GRCm39)		probably null	Het
Rbp3	G	A	14: 33,678,991 (GRCm39)	A980T	probably damaging	Het
Ripply2	T	A	9: 86,898,331 (GRCm39)	S58R	possibly damaging	Het
Robo1	T	C	16: 72,767,190 (GRCm39)	V454A	probably benign	Het
Sacs	A	G	14: 61,446,273 (GRCm39)	D2773G	possibly damaging	Het
Sirpb1b	A	T	3: 15,568,243 (GRCm39)	V366E	possibly damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Spata31f1a	T	A	4: 42,850,393 (GRCm39)	I588F	probably damaging	Het
Srgap2	T	C	1: 131,283,280 (GRCm39)	Y267C	probably damaging	Het
Ssc4d	T	C	5: 135,994,950 (GRCm39)	T189A	probably benign	Het
Tas2r106	A	G	6: 131,654,925 (GRCm39)	*309Q	probably null	Het
Vmn2r44	T	C	7: 8,373,657 (GRCm39)	M511V	probably benign	Het
Wdfy4	G	T	14: 32,823,006 (GRCm39)	Y1364*	probably null	Het
Zbtb8a	T	C	4: 129,248,092 (GRCm39)	H393R	probably benign	Het

Other mutations in Spmap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Spmap2	APN	10	79,412,433 (GRCm39)	missense	probably damaging	0.99
IGL02013:Spmap2	APN	10	79,415,769 (GRCm39)	splice site	probably null
R0087:Spmap2	UTSW	10	79,421,785 (GRCm39)	nonsense	probably null
R1035:Spmap2	UTSW	10	79,419,684 (GRCm39)	missense	probably damaging	1.00
R4133:Spmap2	UTSW	10	79,415,884 (GRCm39)	missense	probably damaging	0.97
R5960:Spmap2	UTSW	10	79,421,765 (GRCm39)	missense	possibly damaging	0.76
R5971:Spmap2	UTSW	10	79,420,589 (GRCm39)	missense	probably damaging	1.00
R6067:Spmap2	UTSW	10	79,420,589 (GRCm39)	missense	probably damaging	1.00
R6138:Spmap2	UTSW	10	79,420,589 (GRCm39)	missense	probably damaging	1.00
R7046:Spmap2	UTSW	10	79,422,796 (GRCm39)	missense	probably benign	0.35
R7117:Spmap2	UTSW	10	79,420,741 (GRCm39)	splice site	probably null
R7463:Spmap2	UTSW	10	79,412,549 (GRCm39)	missense	probably damaging	0.99
R8441:Spmap2	UTSW	10	79,412,510 (GRCm39)	missense	probably damaging	1.00
R8739:Spmap2	UTSW	10	79,419,581 (GRCm39)	missense	possibly damaging	0.80
R8883:Spmap2	UTSW	10	79,412,474 (GRCm39)	missense	probably benign	0.10
R9060:Spmap2	UTSW	10	79,420,571 (GRCm39)	missense	probably damaging	1.00
U15987:Spmap2	UTSW	10	79,420,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAGCATCTGCCTCCTTGG -3'
(R):5'- AACCATAGGTCCATTTGGGTGC -3'

Sequencing Primer
(F):5'- TACCTGCCCACTGGGTC -3'
(R):5'- ATAGGTCCATTTGGGTGCTGAGG -3'

Posted On

2018-04-27