Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00155:Speer1m'

1673

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Speer1m

Ensembl Gene

ENSMUSG00000067848

Gene Name

spermatogenesis associated glutamate (E)-rich protein 1M

Synonyms

4933402N22Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00155

Quality Score

Status

Chromosome

Chromosomal Location

11968010-11972771 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11971377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 110 (S110G)

Ref Sequence

ENSEMBL: ENSMUSP00000130317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170301]

AlphaFold

A3KN63

Predicted Effect

unknown
Transcript: ENSMUST00000168329
AA Change: S142G

SMART Domains

Protein: ENSMUSP00000130833
Gene: ENSMUSG00000067848
AA Change: S142G

Domain	Start	End	E-Value	Type
Pfam:Takusan	39	125	5.2e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170301
AA Change: S110G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130317
Gene: ENSMUSG00000067848
AA Change: S110G

Domain	Start	End	E-Value	Type
Pfam:Takusan	6	92	1e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200042

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,590,235 (GRCm39)	F498S	probably damaging	Het
Arhgap11a	A	G	2: 113,664,601 (GRCm39)	S561P	probably benign	Het
Best3	T	C	10: 116,824,632 (GRCm39)	Y33H	probably damaging	Het
Cd209b	T	A	8: 3,969,945 (GRCm39)		probably benign	Het
Cep152	A	G	2: 125,405,808 (GRCm39)	S1575P	probably benign	Het
Crabp2	A	G	3: 87,859,506 (GRCm39)	Y52C	probably damaging	Het
Crybg1	T	C	10: 43,868,505 (GRCm39)	D1017G	probably damaging	Het
Ctnna2	A	T	6: 76,957,744 (GRCm39)	W137R	probably damaging	Het
Cxcl9	T	A	5: 92,471,728 (GRCm39)	H104L	possibly damaging	Het
Ddr2	A	G	1: 169,811,996 (GRCm39)	I742T	possibly damaging	Het
Frem1	A	G	4: 82,877,626 (GRCm39)	V223A	possibly damaging	Het
Fzd10	T	A	5: 128,678,592 (GRCm39)	I104N	probably damaging	Het
Greb1	A	G	12: 16,761,962 (GRCm39)	S473P	probably damaging	Het
Gtf2i	T	C	5: 134,271,602 (GRCm39)	Y873C	probably damaging	Het
Igsf6	T	A	7: 120,669,876 (GRCm39)	K89*	probably null	Het
Ints3	A	G	3: 90,313,636 (GRCm39)	F331L	probably damaging	Het
Kcnh3	A	T	15: 99,140,354 (GRCm39)	H1080L	possibly damaging	Het
Mettl15	A	T	2: 108,923,521 (GRCm39)	Y300*	probably null	Het
Mms19	A	G	19: 41,936,672 (GRCm39)	F654L	probably benign	Het
Myc	A	G	15: 61,861,669 (GRCm39)	H425R	probably benign	Het
Ntn1	G	T	11: 68,117,445 (GRCm39)		probably benign	Het
Ormdl2	C	A	10: 128,655,944 (GRCm39)	G69W	probably damaging	Het
Pdpr	T	C	8: 111,828,704 (GRCm39)	V69A	possibly damaging	Het
Rbbp6	T	C	7: 122,587,908 (GRCm39)	I254T	probably damaging	Het
Sema6d	A	G	2: 124,501,785 (GRCm39)	R543G	possibly damaging	Het
Slc18a1	C	T	8: 69,503,998 (GRCm39)	A314T	probably damaging	Het
Slc22a26	A	G	19: 7,760,201 (GRCm39)	L514P	probably damaging	Het
Slc22a28	A	C	19: 8,107,567 (GRCm39)	S167A	possibly damaging	Het
Tchh	A	G	3: 93,352,606 (GRCm39)	E682G	unknown	Het
Thbs2	A	T	17: 14,889,097 (GRCm39)	M1134K	probably damaging	Het
Tmem26	A	G	10: 68,611,184 (GRCm39)	S218G	probably damaging	Het
Tmprss11c	A	T	5: 86,387,254 (GRCm39)	S208R	probably benign	Het
Tnfrsf8	T	C	4: 145,019,161 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,596,875 (GRCm39)	S3872P	probably benign	Het
Vmn1r69	T	C	7: 10,313,879 (GRCm39)	N205S	probably benign	Het
Vmn2r54	T	A	7: 12,365,840 (GRCm39)		probably benign	Het
Wwtr1	A	T	3: 57,370,942 (GRCm39)	M328K	possibly damaging	Het
Zfp64	G	A	2: 168,768,601 (GRCm39)	S337L	probably benign	Het

Other mutations in Speer1m

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01904:Speer1m	APN	5	11,971,423 (GRCm39)	missense	probably benign	0.06
R6029:Speer1m	UTSW	5	11,970,680 (GRCm39)	missense	probably damaging	0.99
R6575:Speer1m	UTSW	5	11,970,612 (GRCm39)	nonsense	probably null
R7238:Speer1m	UTSW	5	11,970,712 (GRCm39)	missense
R8493:Speer1m	UTSW	5	11,971,489 (GRCm39)	missense	probably damaging	0.99
R9361:Speer1m	UTSW	5	11,970,646 (GRCm39)	missense
Z1177:Speer1m	UTSW	5	11,968,094 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-07-12