Mutagenetix > Incidental Mutation

Incidental Mutation 'R9060:Spmap2'

688937

Institutional Source

Beutler Lab

Gene Symbol

Spmap2

Ensembl Gene

ENSMUSG00000020317

Gene Name

sperm microtubule associated protein 2

Synonyms

Theg

MMRRC Submission

068886-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79412311-79422970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79420571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 189 (L189I)

Ref Sequence

ENSEMBL: ENSMUSP00000020566 (fasta)

Gene Model

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

AlphaFold

Q9JMB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000020566
AA Change: L189I

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

SMART Domains

Protein: ENSMUSP00000020566
Gene: ENSMUSG00000020317
AA Change: L189I

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 damaging
Transcript: ENSMUST00000077433
AA Change: L165I

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

SMART Domains

Protein: ENSMUSP00000076647
Gene: ENSMUSG00000020317
AA Change: L165I

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	C	17: 13,145,293 (GRCm39)	V295G		Het
Agfg1	T	C	1: 82,872,254 (GRCm39)	V529A	possibly damaging	Het
Ap1g2	G	A	14: 55,337,887 (GRCm39)	P667L	probably benign	Het
Arhgap29	T	A	3: 121,783,973 (GRCm39)	S176T	probably damaging	Het
Casq2	A	G	3: 102,052,619 (GRCm39)	D377G	unknown	Het
Ccdc14	T	C	16: 34,517,486 (GRCm39)	L104P	probably benign	Het
Cep104	T	C	4: 154,074,281 (GRCm39)	I511T	probably damaging	Het
Cgn	A	G	3: 94,687,165 (GRCm39)	Y46H	probably damaging	Het
Cilp	T	C	9: 65,186,302 (GRCm39)	V799A	probably benign	Het
Col6a1	A	G	10: 76,557,711 (GRCm39)	V175A	probably benign	Het
Dclk1	C	A	3: 55,163,575 (GRCm39)	D222E	probably benign	Het
Dnah10	G	T	5: 124,905,141 (GRCm39)	C4058F	probably damaging	Het
Dnai4	A	T	4: 102,947,750 (GRCm39)	D175E	probably benign	Het
Elmod3	A	T	6: 72,543,790 (GRCm39)	Y334N	probably damaging	Het
Enah	C	A	1: 181,749,817 (GRCm39)	A341S	probably damaging	Het
Eomes	T	C	9: 118,311,364 (GRCm39)	*396Q	probably null	Het
Epb41l1	T	A	2: 156,345,679 (GRCm39)	Y227*	probably null	Het
Epha5	A	T	5: 84,218,977 (GRCm39)	D765E	probably benign	Het
Fat3	T	C	9: 15,910,782 (GRCm39)	N1740S	possibly damaging	Het
Fhip2a	C	T	19: 57,361,450 (GRCm39)	H125Y	probably damaging	Het
Galnt9	G	A	5: 110,737,710 (GRCm39)	R222H	possibly damaging	Het
Gm19410	A	G	8: 36,269,480 (GRCm39)	D1105G	probably damaging	Het
Hoxa13	T	A	6: 52,236,897 (GRCm39)	Y121F	probably damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Jag1	T	G	2: 136,931,204 (GRCm39)	T643P	probably damaging	Het
Limd1	T	A	9: 123,309,514 (GRCm39)	S404R	probably benign	Het
Micall2	A	T	5: 139,705,035 (GRCm39)	S100T	probably damaging	Het
Miga2	T	A	2: 30,271,735 (GRCm39)	L419Q	probably damaging	Het
Ms4a13	A	C	19: 11,168,950 (GRCm39)	I25S		Het
Nnmt	T	C	9: 48,503,367 (GRCm39)	T220A	probably benign	Het
Nrg3	G	A	14: 38,734,052 (GRCm39)	T278I	probably damaging	Het
Nup98	A	G	7: 101,783,895 (GRCm39)	W1146R	probably damaging	Het
Or13a28	T	G	7: 140,217,695 (GRCm39)	L27R		Het
Or5m10	T	C	2: 85,717,920 (GRCm39)	Y259H	probably benign	Het
Pacsin3	T	C	2: 91,091,557 (GRCm39)	F85L	probably benign	Het
Padi4	T	A	4: 140,477,953 (GRCm39)	D465V	probably damaging	Het
Pakap	A	G	4: 57,855,412 (GRCm39)	E247G	probably damaging	Het
Pclo	A	T	5: 14,726,599 (GRCm39)	Y1819F	unknown	Het
Pitpnm1	C	A	19: 4,156,869 (GRCm39)	T464N	probably damaging	Het
Rnf214	T	C	9: 45,809,772 (GRCm39)		probably benign	Het
Rrs1	G	A	1: 9,616,677 (GRCm39)	G310D	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Slc35e3	A	G	10: 117,581,688 (GRCm39)		probably null	Het
Slc47a2	T	C	11: 61,227,699 (GRCm39)	I142V	probably benign	Het
Slc8a3	G	A	12: 81,260,852 (GRCm39)	R626C	probably benign	Het
Spart	T	C	3: 55,032,275 (GRCm39)	S370P	probably benign	Het
Spata31e1	G	A	13: 49,940,087 (GRCm39)	S541F	probably damaging	Het
Tle3	T	A	9: 61,282,821 (GRCm39)	M67K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,839,489 (GRCm39)	Y1534*	probably null	Het
Usp13	T	C	3: 32,965,812 (GRCm39)		probably null	Het
Vmn2r97	T	C	17: 19,134,585 (GRCm39)	M1T	probably null	Het
Zc3h7a	G	A	16: 10,969,047 (GRCm39)	T438I	probably damaging	Het
Zfhx2	A	G	14: 55,311,803 (GRCm39)	V297A	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
R6357:Spmap2	UTSW	10	79,422,789 (GRCm39)	missense	probably benign	0.28
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
U15987:Spmap2	UTSW	10	79,420,589 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGGTCAGACTGCTAAGGG -3'
(R):5'- CTCTTAGGTTTAACCATGGGGAG -3'

Sequencing Primer
(F):5'- GACATTGGCTAGACCTCTTGAGAC -3'
(R):5'- GGAAGGAGCCAGTCTTGTC -3'

Posted On

2021-11-19