Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02804:Speer4a2'

360335

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer4a2

Ensembl Gene

ENSMUSG00000073116

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4A2

Synonyms

Gm10471

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL02804

Quality Score

Status

Chromosome

Chromosomal Location

26287572-26294289 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 26291429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 126 (K126*)

Ref Sequence

ENSEMBL: ENSMUSP00000092553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094946]

AlphaFold

E9Q1C7

Predicted Effect

probably null
Transcript: ENSMUST00000094946
AA Change: K126*

SMART Domains

Protein: ENSMUSP00000092553
Gene: ENSMUSG00000073116
AA Change: K126*

Domain	Start	End	E-Value	Type
Pfam:Takusan	6	90	1.9e-27	PFAM
low complexity region	110	124	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,397,009 (GRCm39)	I241N	possibly damaging	Het
Aftph	T	C	11: 20,676,107 (GRCm39)	T501A	possibly damaging	Het
Agrn	A	G	4: 156,258,512 (GRCm39)	S985P	probably benign	Het
Atxn7l1	T	A	12: 33,417,788 (GRCm39)	S650T	probably damaging	Het
Camk2d	G	A	3: 126,591,387 (GRCm39)	E286K	possibly damaging	Het
Card10	A	G	15: 78,686,649 (GRCm39)	V56A	probably damaging	Het
Fcgbpl1	G	T	7: 27,852,795 (GRCm39)	V1361L	probably benign	Het
H2-Q10	G	A	17: 35,784,147 (GRCm39)	G263R	probably damaging	Het
Herc4	A	C	10: 63,121,454 (GRCm39)	K365Q	probably benign	Het
Klhl33	T	C	14: 51,130,411 (GRCm39)	H101R	probably damaging	Het
Lef1	A	G	3: 130,988,338 (GRCm39)	N236D	probably damaging	Het
Lipg	T	A	18: 75,082,159 (GRCm39)	N255Y	probably damaging	Het
Lrp5	T	C	19: 3,650,777 (GRCm39)	D1219G	possibly damaging	Het
Myh7b	T	C	2: 155,467,643 (GRCm39)	L756P	probably damaging	Het
Nnt	A	G	13: 119,518,210 (GRCm39)		probably null	Het
Or6c88	T	C	10: 129,407,306 (GRCm39)	S261P	possibly damaging	Het
Pcsk9	A	G	4: 106,314,161 (GRCm39)	Y145H	probably damaging	Het
Prkag1	G	A	15: 98,713,385 (GRCm39)	S69L	probably damaging	Het
Prkd2	C	A	7: 16,589,815 (GRCm39)	R506S	probably benign	Het
Ralgapb	T	A	2: 158,268,204 (GRCm39)	D102E	possibly damaging	Het
Rbm44	A	G	1: 91,077,898 (GRCm39)		probably benign	Het
Snap23	T	C	2: 120,416,637 (GRCm39)		probably benign	Het
Sntg1	T	A	1: 8,874,182 (GRCm39)		probably benign	Het
Strbp	T	C	2: 37,514,498 (GRCm39)		probably benign	Het
Tmem217	G	A	17: 29,745,455 (GRCm39)	L92F	probably damaging	Het
Troap	G	A	15: 98,975,552 (GRCm39)		probably null	Het
Vmn1r16	T	C	6: 57,300,467 (GRCm39)	M52V	probably benign	Het
Wwox	G	A	8: 115,438,753 (GRCm39)	G273E	probably damaging	Het
Zbp1	T	A	2: 173,050,939 (GRCm39)	K310N	probably damaging	Het
Zfp423	T	A	8: 88,509,285 (GRCm39)	H332L	probably benign	Het

Other mutations in Speer4a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Speer4a2	APN	5	26,291,491 (GRCm39)	missense	possibly damaging	0.95
IGL01629:Speer4a2	APN	5	26,290,700 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Speer4a2	UTSW	5	26,294,093 (GRCm39)	missense	probably damaging	1.00
PIT4131001:Speer4a2	UTSW	5	26,291,485 (GRCm39)	missense	probably benign
PIT4142001:Speer4a2	UTSW	5	26,294,093 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Speer4a2	UTSW	5	26,291,485 (GRCm39)	missense	probably benign
R1033:Speer4a2	UTSW	5	26,294,125 (GRCm39)	missense	probably benign
R4922:Speer4a2	UTSW	5	26,289,791 (GRCm39)	missense	probably damaging	0.99
R5876:Speer4a2	UTSW	5	26,289,716 (GRCm39)	missense	probably damaging	0.99
R5998:Speer4a2	UTSW	5	26,289,704 (GRCm39)	missense	probably damaging	1.00
R6022:Speer4a2	UTSW	5	26,289,677 (GRCm39)	missense	probably benign
R6189:Speer4a2	UTSW	5	26,290,691 (GRCm39)	missense	probably benign	0.02
R6928:Speer4a2	UTSW	5	26,290,586 (GRCm39)	critical splice donor site	probably null
R6978:Speer4a2	UTSW	5	26,291,454 (GRCm39)	missense	probably damaging	0.99
R7143:Speer4a2	UTSW	5	26,290,674 (GRCm39)	missense	probably benign	0.07
R7271:Speer4a2	UTSW	5	26,292,993 (GRCm39)	missense	probably benign	0.00
R7590:Speer4a2	UTSW	5	26,290,764 (GRCm39)	missense	possibly damaging	0.95
R7989:Speer4a2	UTSW	5	26,290,643 (GRCm39)	missense	probably damaging	1.00
R8161:Speer4a2	UTSW	5	26,289,690 (GRCm39)	missense	possibly damaging	0.94
R8962:Speer4a2	UTSW	5	26,290,745 (GRCm39)	missense	probably benign	0.02
R9585:Speer4a2	UTSW	5	26,291,542 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-12-18