Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00908:Mospd2'

29576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mospd2

Ensembl Gene

ENSMUSG00000061778

Gene Name

motile sperm domain containing 2

Synonyms

2410013I23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL00908

Quality Score

Status

Chromosome

Chromosomal Location

163719165-163763371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 163745121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 135 (R135Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004715] [ENSMUST00000112247] [ENSMUST00000112248]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004715
AA Change: R135Q

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004715
Gene: ENSMUSG00000061778
AA Change: R135Q

Domain	Start	End	E-Value	Type
SCOP:d1aua_1	43	83	2e-3	SMART
SEC14	89	236	1.88e-19	SMART
Pfam:Motile_Sperm	327	432	4.8e-25	PFAM
transmembrane domain	492	514	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112247
AA Change: R135Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107866
Gene: ENSMUSG00000061778
AA Change: R135Q

Domain	Start	End	E-Value	Type
SCOP:d1aua_1	43	83	1e-3	SMART
SEC14	89	236	1.88e-19	SMART
Pfam:Motile_Sperm	327	432	1.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112248
AA Change: R135Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107867
Gene: ENSMUSG00000061778
AA Change: R135Q

Domain	Start	End	E-Value	Type
SCOP:d1aua_1	43	83	1e-3	SMART
SEC14	89	236	1.88e-19	SMART
Pfam:Motile_Sperm	327	432	1.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176221

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap3	G	T	15: 83,206,790 (GRCm39)	P266Q	probably benign	Het
Atp6v1b2	T	A	8: 69,548,918 (GRCm39)	D61E	probably benign	Het
Cad	T	C	5: 31,216,398 (GRCm39)	I190T	possibly damaging	Het
Chd9	C	T	8: 91,723,508 (GRCm39)	T558I	probably damaging	Het
Dmkn	G	A	7: 30,477,695 (GRCm39)		probably null	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ifi213	A	T	1: 173,422,649 (GRCm39)	V72E	probably damaging	Het
Ift122	A	G	6: 115,890,870 (GRCm39)	D803G	probably benign	Het
Il2rg	A	T	X: 100,308,454 (GRCm39)		probably benign	Het
Ing2	T	C	8: 48,122,296 (GRCm39)	Q84R	possibly damaging	Het
Kdm6a	T	C	X: 18,102,905 (GRCm39)	F211L	possibly damaging	Het
Lmnb2	T	C	10: 80,745,821 (GRCm39)	D105G	probably damaging	Het
Magee2	A	G	X: 103,900,447 (GRCm39)	I68T	probably benign	Het
Magi2	T	A	5: 20,596,299 (GRCm39)	D415E	probably benign	Het
Mysm1	T	C	4: 94,847,172 (GRCm39)	D508G	probably damaging	Het
Naip2	T	C	13: 100,297,157 (GRCm39)	I960V	probably benign	Het
Ncald	C	A	15: 37,372,451 (GRCm39)	M131I	possibly damaging	Het
Nup188	T	C	2: 30,223,412 (GRCm39)	S1096P	probably damaging	Het
Plekha5	G	A	6: 140,496,656 (GRCm39)	E69K	probably damaging	Het
Ppp1cb	C	T	5: 32,635,412 (GRCm39)	R19*	probably null	Het
Rasl11b	G	A	5: 74,356,772 (GRCm39)	V50I	probably damaging	Het
Robo2	C	T	16: 73,782,579 (GRCm39)	R319K	probably damaging	Het
Trip4	T	C	9: 65,782,216 (GRCm39)	D172G	probably damaging	Het
Zc3h7a	G	A	16: 10,963,106 (GRCm39)	R752C	probably damaging	Het

Other mutations in Mospd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0730:Mospd2	UTSW	X	163,731,253 (GRCm39)	splice site	probably benign
R2146:Mospd2	UTSW	X	163,739,473 (GRCm39)	critical splice donor site	probably null
R2148:Mospd2	UTSW	X	163,739,473 (GRCm39)	critical splice donor site	probably null
R4665:Mospd2	UTSW	X	163,730,329 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17