Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02092:Speer4f2'

279453

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer4f2

Ensembl Gene

ENSMUSG00000091827

Gene Name

spermatogenesis associated glutamate (E)-rich protein 4f2

Synonyms

Gm3535, Gm3495

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL02092

Quality Score

Status

Chromosome

Chromosomal Location

17373180-17378028 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 17376629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 190 (Q190*)

Ref Sequence

ENSEMBL: ENSMUSP00000129818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166086]

AlphaFold

E9Q366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165985

Predicted Effect

probably null
Transcript: ENSMUST00000166086
AA Change: Q190*

SMART Domains

Protein: ENSMUSP00000129818
Gene: ENSMUSG00000091827
AA Change: Q190*

Domain	Start	End	E-Value	Type
Pfam:Takusan	34	112	9.6e-20	PFAM
low complexity region	208	253	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010H22Rik	T	A	5: 98,566,768		probably benign	Het
Birc7	A	T	2: 180,933,186	R238S	probably benign	Het
Cdc42bpg	C	A	19: 6,316,826		probably benign	Het
Ces3a	T	C	8: 105,050,330		probably benign	Het
Cntnap2	T	C	6: 46,234,203	F517S	probably damaging	Het
Cracr2b	A	G	7: 141,464,956	E201G	probably damaging	Het
Cyth3	T	C	5: 143,707,385		probably benign	Het
Exoc2	A	T	13: 30,875,277	N611K	probably benign	Het
Fign	A	T	2: 63,980,583	N114K	possibly damaging	Het
Gabrb3	A	G	7: 57,765,586	T135A	probably damaging	Het
Htra3	T	C	5: 35,671,072	K155E	probably damaging	Het
Inpp5f	T	C	7: 128,685,224	L609S	probably damaging	Het
Kcp	C	A	6: 29,489,032		probably null	Het
Map4k4	A	G	1: 39,986,783	K311R	probably benign	Het
Map4k4	A	G	1: 40,024,348	K1228E	probably damaging	Het
Muc20	G	A	16: 32,794,272	S245F	probably damaging	Het
Olfr1329	A	G	4: 118,916,990	L159S	possibly damaging	Het
Olfr853	T	A	9: 19,537,750	Y60F	probably damaging	Het
Olfr883	T	G	9: 38,026,621	S272A	possibly damaging	Het
Pi4ka	A	G	16: 17,318,496	M892T	probably benign	Het
Ptpn22	A	G	3: 103,877,321	T234A	probably damaging	Het
Sema4g	G	A	19: 44,992,639		probably null	Het
Slc35a3	A	G	3: 116,681,132	S204P	probably damaging	Het
Szt2	A	G	4: 118,363,332		probably benign	Het
Tacr1	T	C	6: 82,403,919	Y104H	probably damaging	Het
Trim23	A	G	13: 104,187,612	E173G	probably benign	Het
Trpm6	T	C	19: 18,772,331	I8T	possibly damaging	Het
Trpv1	T	A	11: 73,246,079		probably benign	Het
Ufsp2	T	C	8: 45,995,664		probably null	Het
Wwc2	T	C	8: 47,864,535	D669G	unknown	Het
Zfp940	T	C	7: 29,846,201	T94A	probably benign	Het
Zfp947	T	G	17: 22,147,496	D17A	probably damaging	Het

Other mutations in Speer4f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Speer4f2	APN	5	17376567	missense	possibly damaging	0.94
IGL03100:Speer4f2	APN	5	17376530	missense	probably damaging	0.99
R0939:Speer4f2	UTSW	5	17374404	missense	probably damaging	0.99
R1384:Speer4f2	UTSW	5	17374449	missense	probably damaging	1.00
R1528:Speer4f2	UTSW	5	17376542	missense
R1873:Speer4f2	UTSW	5	17374449	missense	probably damaging	1.00
R3608:Speer4f2	UTSW	5	17374494	missense	probably benign	0.03
R4972:Speer4f2	UTSW	5	17374425	missense	probably benign	0.27
R5421:Speer4f2	UTSW	5	17374358	missense	possibly damaging	0.88
R5450:Speer4f2	UTSW	5	17373219	missense	possibly damaging	0.85
R5452:Speer4f2	UTSW	5	17376500	missense	possibly damaging	0.93
R5531:Speer4f2	UTSW	5	17376528	missense	possibly damaging	0.57
R5924:Speer4f2	UTSW	5	17376624	missense	probably damaging	1.00
R6454:Speer4f2	UTSW	5	17374433	missense	probably damaging	0.99
R6553:Speer4f2	UTSW	5	17374422	missense	probably damaging	1.00
R6585:Speer4f2	UTSW	5	17374422	missense	probably damaging	1.00
R6649:Speer4f2	UTSW	5	17375769	missense	probably benign	0.05
R6878:Speer4f2	UTSW	5	17375767	missense	probably damaging	0.99
R7089:Speer4f2	UTSW	5	17376663	missense
R7129:Speer4f2	UTSW	5	17377448	missense
R7448:Speer4f2	UTSW	5	17376542	missense
R7654:Speer4f2	UTSW	5	17374415	missense
R7942:Speer4f2	UTSW	5	17377632	missense	unknown
R8170:Speer4f2	UTSW	5	17374461	missense
R8409:Speer4f2	UTSW	5	17377421	missense
R9154:Speer4f2	UTSW	5	17376612	missense

Posted On

2015-04-16