Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01783:Speer4a1'

154180

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer4a1

Ensembl Gene

ENSMUSG00000073119

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4A1

Synonyms

Speer4a, 1700027N01Rik, SPEER-4A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01783

Quality Score

Status

Chromosome

Chromosomal Location

26239268-26244503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26240045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 235 (Q235L)

Ref Sequence

ENSEMBL: ENSMUSP00000078415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079447]

AlphaFold

F8VPX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079447
AA Change: Q235L

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078415
Gene: ENSMUSG00000073119
AA Change: Q235L

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.7e-26	PFAM
low complexity region	135	146	N/A	INTRINSIC
low complexity region	154	168	N/A	INTRINSIC
coiled coil region	183	223	N/A	INTRINSIC
low complexity region	248	261	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 10,037,900 (GRCm39)	Y166H	possibly damaging	Het
Abi3bp	G	A	16: 56,353,332 (GRCm39)		probably null	Het
Actrt3	T	C	3: 30,652,624 (GRCm39)	T157A	probably benign	Het
Adam26b	T	C	8: 43,974,798 (GRCm39)	K68R	probably benign	Het
Adgrg7	A	G	16: 56,568,282 (GRCm39)		probably null	Het
Ano6	T	C	15: 95,860,143 (GRCm39)	I755T	possibly damaging	Het
Basp1	T	C	15: 25,364,953 (GRCm39)	N15D	unknown	Het
Bod1l	T	C	5: 41,966,055 (GRCm39)	N2670S	probably benign	Het
Btbd3	T	A	2: 138,125,656 (GRCm39)	I280N	probably damaging	Het
Cdh16	T	A	8: 105,344,488 (GRCm39)	Y17F	probably damaging	Het
Clmp	G	T	9: 40,693,703 (GRCm39)	G307W	possibly damaging	Het
Clrn2	C	A	5: 45,617,503 (GRCm39)	Q125K	probably benign	Het
Ctnna3	C	T	10: 63,656,248 (GRCm39)	A276V	possibly damaging	Het
Dram2	A	T	3: 106,480,972 (GRCm39)	T172S	possibly damaging	Het
Dync2h1	G	A	9: 7,118,822 (GRCm39)		probably benign	Het
Ezr	T	C	17: 7,009,888 (GRCm39)		probably benign	Het
Gbe1	T	A	16: 70,275,257 (GRCm39)	D352E	probably damaging	Het
Gbe1	T	C	16: 70,198,743 (GRCm39)		probably null	Het
Gpr18	T	A	14: 122,149,789 (GRCm39)	M79L	probably benign	Het
Gss	T	C	2: 155,413,479 (GRCm39)	Y196C	probably damaging	Het
Gtpbp1	T	C	15: 79,600,398 (GRCm39)	S444P	probably damaging	Het
Hecw1	C	T	13: 14,452,878 (GRCm39)	R712K	probably damaging	Het
Helz2	T	G	2: 180,874,674 (GRCm39)	D1940A	probably damaging	Het
Hmcn1	A	T	1: 150,491,051 (GRCm39)	V4166E	possibly damaging	Het
Klkb1	T	C	8: 45,729,428 (GRCm39)	Y297C	probably damaging	Het
Krt75	T	A	15: 101,473,364 (GRCm39)	I537F	probably benign	Het
Lrp1b	T	A	2: 41,202,584 (GRCm39)	T1176S	probably damaging	Het
Nid2	T	C	14: 19,818,745 (GRCm39)	L413P	probably benign	Het
Or10ag57	T	A	2: 87,218,187 (GRCm39)	M46K	possibly damaging	Het
Or10ag57	G	T	2: 87,218,182 (GRCm39)	L44F	probably benign	Het
Or4c11	T	C	2: 88,695,186 (GRCm39)	L79P	probably damaging	Het
Or5t7	A	G	2: 86,507,425 (GRCm39)	V84A	probably benign	Het
Piwil1	A	G	5: 128,820,890 (GRCm39)	N272D	probably benign	Het
Ppfia3	T	C	7: 45,009,481 (GRCm39)		probably null	Het
Prkg1	A	G	19: 30,602,089 (GRCm39)	V389A	probably damaging	Het
Sema3a	C	A	5: 13,611,767 (GRCm39)	S344R	probably damaging	Het
Serpina3j	T	C	12: 104,284,750 (GRCm39)	L309P	probably damaging	Het
Slc15a1	A	G	14: 121,708,688 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,759 (GRCm39)	A205S	probably benign	Het
St6gal1	A	G	16: 23,140,305 (GRCm39)	T159A	probably benign	Het
Tbrg1	G	T	9: 37,565,596 (GRCm39)	P119T	possibly damaging	Het
Tmem59l	T	C	8: 70,939,874 (GRCm39)	T32A	probably damaging	Het
Trmt13	G	A	3: 116,376,561 (GRCm39)	R277*	probably null	Het
Zfp316	A	G	5: 143,248,631 (GRCm39)	F205S	unknown	Het
Zfp418	G	T	7: 7,184,448 (GRCm39)	W137L	possibly damaging	Het
Zp3r	A	T	1: 130,526,603 (GRCm39)	V200D	possibly damaging	Het

Other mutations in Speer4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01959:Speer4a1	APN	5	26,240,902 (GRCm39)	nonsense	probably null
IGL02294:Speer4a1	APN	5	26,243,240 (GRCm39)	missense	probably benign	0.21
FR4340:Speer4a1	UTSW	5	26,241,746 (GRCm39)	nonsense	probably null
FR4342:Speer4a1	UTSW	5	26,241,746 (GRCm39)	nonsense	probably null
FR4589:Speer4a1	UTSW	5	26,241,746 (GRCm39)	nonsense	probably null
R0137:Speer4a1	UTSW	5	26,240,982 (GRCm39)	missense	possibly damaging	0.95
R1068:Speer4a1	UTSW	5	26,241,024 (GRCm39)	missense	probably null	0.84
R1209:Speer4a1	UTSW	5	26,240,123 (GRCm39)	critical splice acceptor site	probably null
R3805:Speer4a1	UTSW	5	26,240,082 (GRCm39)	missense	possibly damaging	0.76
R4525:Speer4a1	UTSW	5	26,244,341 (GRCm39)	critical splice donor site	probably null
R4851:Speer4a1	UTSW	5	26,243,210 (GRCm39)	missense	probably damaging	0.99
R5326:Speer4a1	UTSW	5	26,241,736 (GRCm39)	missense	probably damaging	0.99
R5542:Speer4a1	UTSW	5	26,241,736 (GRCm39)	missense	probably damaging	0.99
R6081:Speer4a1	UTSW	5	26,239,960 (GRCm39)	nonsense	probably null
R6742:Speer4a1	UTSW	5	26,241,054 (GRCm39)	splice site	probably null
R7521:Speer4a1	UTSW	5	26,241,763 (GRCm39)	missense	probably damaging	1.00
R8669:Speer4a1	UTSW	5	26,243,236 (GRCm39)	missense	probably damaging	1.00
R8782:Speer4a1	UTSW	5	26,241,754 (GRCm39)	missense	probably benign	0.39
R8830:Speer4a1	UTSW	5	26,241,793 (GRCm39)	missense	possibly damaging	0.77
Z1177:Speer4a1	UTSW	5	26,240,036 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04