Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00493:Spmip11'

5812

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spmip11

Ensembl Gene

ENSMUSG00000022993

Gene Name

sperm microtubule inner protein 11

Synonyms

4930415O20Rik, Tex49

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

IGL00493

Quality Score

Status

Chromosome

Chromosomal Location

98468885-98487461 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 98486425 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023728] [ENSMUST00000096224] [ENSMUST00000228566] [ENSMUST00000228903]

AlphaFold

Q8CDT5

Predicted Effect

probably benign
Transcript: ENSMUST00000023728

Predicted Effect

probably benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000228566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228596

Predicted Effect

probably benign
Transcript: ENSMUST00000228903

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,751,761 (GRCm39)	T509A	probably benign	Het
Arhgap23	T	C	11: 97,337,379 (GRCm39)		probably null	Het
Astn1	A	T	1: 158,427,889 (GRCm39)	I687F	possibly damaging	Het
Atg4d	T	C	9: 21,178,217 (GRCm39)	F112L	probably damaging	Het
Bltp3b	A	C	10: 89,615,846 (GRCm39)	D163A	probably damaging	Het
Cd200	T	A	16: 45,217,409 (GRCm39)	D94V	probably damaging	Het
Cfap46	T	C	7: 139,194,359 (GRCm39)	K2285R	probably benign	Het
Clhc1	T	A	11: 29,521,745 (GRCm39)	I426N	probably damaging	Het
Cnnm2	T	A	19: 46,751,659 (GRCm39)	V483E	probably damaging	Het
Dennd2b	G	A	7: 109,126,915 (GRCm39)	A932V	possibly damaging	Het
Dlc1	A	T	8: 37,037,436 (GRCm39)		probably benign	Het
Fpgs	T	C	2: 32,578,009 (GRCm39)	I138V	possibly damaging	Het
Gpr152	T	C	19: 4,193,506 (GRCm39)	V349A	probably benign	Het
Hk1	C	A	10: 62,122,127 (GRCm39)	E523*	probably null	Het
Ift70a1	C	A	2: 75,812,085 (GRCm39)		probably benign	Het
Krt6a	T	G	15: 101,601,229 (GRCm39)	K241N	probably damaging	Het
Mcm3ap	A	G	10: 76,307,011 (GRCm39)	S375G	probably benign	Het
Meikin	C	T	11: 54,289,320 (GRCm39)	P231L	probably damaging	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Mvk	G	A	5: 114,583,502 (GRCm39)	V14I	probably benign	Het
Myo6	C	T	9: 80,199,754 (GRCm39)	S1021L	probably damaging	Het
N4bp2l2	G	A	5: 150,585,401 (GRCm39)	T193M	probably benign	Het
Naip5	G	T	13: 100,367,279 (GRCm39)	D272E	probably damaging	Het
Nptn	T	A	9: 58,550,922 (GRCm39)	N316K	probably damaging	Het
Pde6c	T	C	19: 38,151,324 (GRCm39)		probably benign	Het
Prg4	T	A	1: 150,327,671 (GRCm39)	I850L	probably damaging	Het
Rdm1	T	G	11: 101,526,580 (GRCm39)	C251G	possibly damaging	Het
Relch	A	G	1: 105,624,324 (GRCm39)		probably benign	Het
Rps6kl1	G	A	12: 85,186,157 (GRCm39)	P291L	probably benign	Het
Sel1l	A	G	12: 91,781,387 (GRCm39)		probably benign	Het
Serpinb1b	T	C	13: 33,277,850 (GRCm39)	F361S	probably damaging	Het
Sirpb1a	G	A	3: 15,475,788 (GRCm39)		probably benign	Het
Smpd1	T	G	7: 105,205,848 (GRCm39)	V405G	probably damaging	Het
Tead3	T	C	17: 28,551,780 (GRCm39)	T438A	possibly damaging	Het
Treh	A	T	9: 44,595,197 (GRCm39)	D89V	probably damaging	Het
Trim10	A	T	17: 37,188,140 (GRCm39)	H452L	probably benign	Het
Ugt2b1	A	G	5: 87,073,817 (GRCm39)	C181R	probably benign	Het
Xdh	A	T	17: 74,230,101 (GRCm39)	F277I	possibly damaging	Het
Zswim4	T	G	8: 84,938,769 (GRCm39)	T1038P	probably damaging	Het

Other mutations in Spmip11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20