Mutagenetix > Incidental Mutation

Incidental Mutation 'R0029:Spmip11'

15467

Institutional Source

Beutler Lab

Gene Symbol

Spmip11

Ensembl Gene

ENSMUSG00000022993

Gene Name

sperm microtubule inner protein 11

Synonyms

4930415O20Rik, Tex49

MMRRC Submission

038323-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R0029 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98468885-98487461 bp(+) (GRCm39)

Type of Mutation

splice site (4664 bp from exon)

DNA Base Change (assembly)

T to C at 98483190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023728] [ENSMUST00000096224]

AlphaFold

Q8CDT5

Predicted Effect

probably benign
Transcript: ENSMUST00000023728
AA Change: I40T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably null
Transcript: ENSMUST00000096224

SMART Domains

Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994

Domain	Start	End	E-Value	Type
low complexity region	150	166	N/A	INTRINSIC
low complexity region	169	177	N/A	INTRINSIC
low complexity region	212	228	N/A	INTRINSIC
CYCc	331	532	2.95e-63	SMART
Pfam:DUF1053	580	669	3.5e-18	PFAM
transmembrane domain	701	723	N/A	INTRINSIC
transmembrane domain	744	763	N/A	INTRINSIC
transmembrane domain	815	834	N/A	INTRINSIC
transmembrane domain	839	861	N/A	INTRINSIC
Blast:CYCc	885	929	5e-20	BLAST
CYCc	939	1147	4.81e-45	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226236

Meta Mutation Damage Score

0.6505

Coding Region Coverage

1x: 79.2%
3x: 69.9%
10x: 44.2%
20x: 23.9%

Validation Efficiency

94% (58/62)

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,225 (GRCm39)	F434L	probably benign	Het
Cpa4	A	G	6: 30,585,044 (GRCm39)	Y276C	probably damaging	Het
Cpt1a	A	G	19: 3,431,674 (GRCm39)	D698G	probably benign	Het
Exosc7	A	T	9: 122,948,302 (GRCm39)		probably benign	Het
Gapvd1	T	A	2: 34,568,153 (GRCm39)	I1404F	probably damaging	Het
Il23r	A	C	6: 67,455,929 (GRCm39)		probably null	Het
Impg1	T	C	9: 80,305,653 (GRCm39)	D138G	probably damaging	Het
Lmo7	T	C	14: 102,171,357 (GRCm39)		probably benign	Het
Nell1	G	A	7: 49,770,463 (GRCm39)		probably benign	Het
Per2	C	A	1: 91,351,434 (GRCm39)	R1024L	possibly damaging	Het
Sulf2	T	C	2: 165,958,893 (GRCm39)	N105S	possibly damaging	Het
Svil	C	A	18: 5,063,286 (GRCm39)	D852E	probably benign	Het
Tcaf2	A	T	6: 42,607,093 (GRCm39)	L287*	probably null	Het
Tmem63a	A	G	1: 180,790,031 (GRCm39)	Y401C	probably benign	Het
Ttn	T	C	2: 76,596,850 (GRCm39)	E20021G	probably damaging	Het
Vmn1r179	A	T	7: 23,628,630 (GRCm39)	I274F	probably benign	Het

Other mutations in Spmip11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Spmip11	APN	15	98,486,425 (GRCm39)	unclassified	probably benign
IGL02524:Spmip11	APN	15	98,469,006 (GRCm39)	critical splice donor site	probably null
R0029:Spmip11	UTSW	15	98,483,190 (GRCm39)	splice site	probably null
R0420:Spmip11	UTSW	15	98,468,975 (GRCm39)	missense	probably benign	0.16
R1470:Spmip11	UTSW	15	98,483,142 (GRCm39)	unclassified	probably benign
R5144:Spmip11	UTSW	15	98,483,148 (GRCm39)	splice site	probably null
R7742:Spmip11	UTSW	15	98,483,250 (GRCm39)	missense	probably damaging	1.00
R8167:Spmip11	UTSW	15	98,486,548 (GRCm39)	missense	probably benign
R9008:Spmip11	UTSW	15	98,486,493 (GRCm39)	missense	possibly damaging	0.72
R9758:Spmip11	UTSW	15	98,483,264 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-21