Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01629:Speer4a2'

92850

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 #

IGL01629

Quality Score

Status

Chromosome

Chromosomal Location

26287572-26294289 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26290700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 157 (S157N)

Ref Sequence

ENSEMBL: ENSMUSP00000092553 (fasta)

Gene Model

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

AlphaFold

E9Q1C7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094946
AA Change: S157N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092553
Gene: ENSMUSG00000073116
AA Change: S157N

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Adm2	T	A	15: 89,207,605 (GRCm39)		probably null	Het
Alox12	G	A	11: 70,133,660 (GRCm39)	P555S	probably damaging	Het
Alpk2	A	G	18: 65,433,113 (GRCm39)	S1798P	probably damaging	Het
Amfr	T	A	8: 94,714,136 (GRCm39)		probably null	Het
Arhgef18	T	A	8: 3,431,942 (GRCm39)	C168S	possibly damaging	Het
Atxn7l3	A	T	11: 102,183,320 (GRCm39)		probably benign	Het
Ccdc191	A	G	16: 43,779,663 (GRCm39)	K707E	possibly damaging	Het
Cdc5l	G	T	17: 45,724,116 (GRCm39)	D391E	probably benign	Het
Cmtm2b	T	C	8: 105,056,420 (GRCm39)	S110P	possibly damaging	Het
Cyp2j8	T	C	4: 96,387,840 (GRCm39)	D207G	probably damaging	Het
Ddhd2	A	G	8: 26,225,855 (GRCm39)	F501L	possibly damaging	Het
Dnaaf6rt	T	A	1: 31,262,014 (GRCm39)		probably null	Het
Dnah1	C	T	14: 31,014,277 (GRCm39)	V1823M	probably damaging	Het
Gjb4	T	C	4: 127,245,419 (GRCm39)	D174G	possibly damaging	Het
Gm45213	A	G	7: 65,711,962 (GRCm39)	D58G	probably damaging	Het
Hes1	C	T	16: 29,884,976 (GRCm39)		probably benign	Het
Krt33b	T	A	11: 99,920,386 (GRCm39)	Q89L	probably benign	Het
Llcfc1	C	A	6: 41,661,459 (GRCm39)	S3Y	possibly damaging	Het
Ltf	A	G	9: 110,864,874 (GRCm39)	N569S	probably damaging	Het
Mknk1	T	A	4: 115,732,731 (GRCm39)	W320R	probably damaging	Het
Mrgprx3-ps	T	A	7: 46,959,353 (GRCm39)	K213*	probably null	Het
Mslnl	T	G	17: 25,963,749 (GRCm39)	V388G	possibly damaging	Het
Nfkb1	T	C	3: 135,307,228 (GRCm39)	I566V	probably benign	Het
Npy1r	G	A	8: 67,156,873 (GRCm39)	V98I	probably benign	Het
Phf1	G	T	17: 27,153,247 (GRCm39)	A22S	probably benign	Het
Plcg1	T	G	2: 160,599,930 (GRCm39)	F897V	possibly damaging	Het
Ric1	A	T	19: 29,581,381 (GRCm39)	E1367D	probably benign	Het
Slc24a3	T	C	2: 145,482,130 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,968,565 (GRCm39)		probably null	Het
Spink5	T	C	18: 44,129,677 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,051,377 (GRCm39)	I4036V	possibly damaging	Het
Taok1	A	T	11: 77,429,030 (GRCm39)	M890K	possibly damaging	Het
Tenm2	A	T	11: 36,755,711 (GRCm39)	Y96N	probably damaging	Het
Ttll10	T	A	4: 156,131,351 (GRCm39)	T233S	probably benign	Het
Vps39	G	T	2: 120,154,079 (GRCm39)	L628M	probably benign	Het
Zfp563	G	A	17: 33,323,600 (GRCm39)	R105H	probably damaging	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
IGL02804:Speer4a2	APN	5	26,291,429 (GRCm39)	nonsense	probably null
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

2013-12-09