Mutagenetix > Incidental Mutation

Incidental Mutation 'R3811:Spem2'

275202

Institutional Source

Beutler Lab

Gene Symbol

Spem2

Ensembl Gene

ENSMUSG00000044084

Gene Name

SPEM family member 2

Synonyms

4933402P03Rik

MMRRC Submission

040767-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3811 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69707392-69709291 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69707990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 325 (E325G)

Ref Sequence

ENSEMBL: ENSMUSP00000051204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056941] [ENSMUST00000210714]

AlphaFold

Q8C5U4

Predicted Effect

probably benign
Transcript: ENSMUST00000045771

SMART Domains

Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165

Domain	Start	End	E-Value	Type
Pfam:Spem1	12	196	3.7e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056941
AA Change: E325G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084
AA Change: E325G

Domain	Start	End	E-Value	Type
Pfam:Spem1	1	261	2e-121	PFAM
low complexity region	281	294	N/A	INTRINSIC
low complexity region	478	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210714

Meta Mutation Damage Score

0.1487

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	G	T	6: 34,776,664 (GRCm39)	S385I	probably damaging	Het
Arhgap28	G	A	17: 68,203,088 (GRCm39)	P122S	probably benign	Het
Arid2	T	C	15: 96,186,967 (GRCm39)	V73A	probably benign	Het
Atp1b1	C	T	1: 164,270,874 (GRCm39)	R35H	probably benign	Het
Cacybp	T	C	1: 160,031,222 (GRCm39)	D202G	probably benign	Het
Chsy3	C	G	18: 59,309,242 (GRCm39)	P165R	probably benign	Het
Creb3	C	T	4: 43,565,501 (GRCm39)	Q227*	probably null	Het
Crnkl1	C	A	2: 145,773,226 (GRCm39)	R140L	probably damaging	Het
Cyth4	A	G	15: 78,488,849 (GRCm39)	E39G	probably damaging	Het
Dnah6	T	C	6: 73,168,481 (GRCm39)	T481A	probably benign	Het
Dock4	T	A	12: 40,829,123 (GRCm39)	I1003N	possibly damaging	Het
Galntl5	T	C	5: 25,391,178 (GRCm39)	F26L	probably benign	Het
Glrx5	C	G	12: 104,999,147 (GRCm39)	C63W	probably damaging	Het
Gm9602	T	A	14: 15,932,645 (GRCm39)	I28N	probably damaging	Het
Hivep2	A	G	10: 14,006,101 (GRCm39)	T900A	probably benign	Het
Hmcn1	A	G	1: 150,525,328 (GRCm39)		probably null	Het
Ighv1-24	G	T	12: 114,736,685 (GRCm39)	L72I	probably benign	Het
Ilvbl	G	A	10: 78,414,869 (GRCm39)	C244Y	probably benign	Het
Kat7	A	G	11: 95,182,441 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lamc1	A	T	1: 153,138,454 (GRCm39)		probably null	Het
Mall	T	A	2: 127,550,774 (GRCm39)	I129F	probably damaging	Het
Mdn1	A	T	4: 32,693,506 (GRCm39)	K1044*	probably null	Het
Med23	A	T	10: 24,768,490 (GRCm39)	R77*	probably null	Het
Med23	G	A	10: 24,768,491 (GRCm39)		probably null	Het
Metap2	A	T	10: 93,706,026 (GRCm39)	L252*	probably null	Het
Or8k28	A	T	2: 86,285,691 (GRCm39)	V308E	probably benign	Het
Psmd1	T	A	1: 86,060,437 (GRCm39)	V828D	probably damaging	Het
Psmd9	C	T	5: 123,372,653 (GRCm39)		probably benign	Het
Rbbp5	T	C	1: 132,420,325 (GRCm39)	V59A	probably damaging	Het
Sco2	T	C	15: 89,257,882 (GRCm39)		probably benign	Het
Slc32a1	G	T	2: 158,456,656 (GRCm39)	C437F	possibly damaging	Het
Steap4	A	G	5: 8,027,017 (GRCm39)	T327A	probably benign	Het
Tsc2	T	C	17: 24,848,011 (GRCm39)	D70G	probably benign	Het
Txndc5	T	C	13: 38,707,381 (GRCm39)	K99E	probably benign	Het

Other mutations in Spem2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Spem2	APN	11	69,708,065 (GRCm39)	missense	possibly damaging	0.53
IGL02208:Spem2	APN	11	69,708,089 (GRCm39)	splice site	probably null
IGL02315:Spem2	APN	11	69,708,191 (GRCm39)	missense	probably damaging	0.98
IGL02325:Spem2	APN	11	69,707,789 (GRCm39)	missense	probably benign	0.00
IGL02877:Spem2	APN	11	69,708,521 (GRCm39)	missense	probably benign	0.16
R1476:Spem2	UTSW	11	69,708,896 (GRCm39)	missense	probably benign	0.05
R1928:Spem2	UTSW	11	69,708,290 (GRCm39)	missense	probably benign	0.03
R3741:Spem2	UTSW	11	69,707,556 (GRCm39)	missense	possibly damaging	0.53
R4271:Spem2	UTSW	11	69,708,251 (GRCm39)	missense	probably damaging	0.98
R4717:Spem2	UTSW	11	69,708,609 (GRCm39)	missense	probably benign	0.37
R4997:Spem2	UTSW	11	69,708,558 (GRCm39)	missense	probably benign	0.06
R5114:Spem2	UTSW	11	69,707,973 (GRCm39)	missense	probably benign	0.33
R6137:Spem2	UTSW	11	69,707,522 (GRCm39)	nonsense	probably null
R6302:Spem2	UTSW	11	69,709,091 (GRCm39)	missense	possibly damaging	0.71
R6454:Spem2	UTSW	11	69,708,254 (GRCm39)	missense	probably damaging	0.97
R6923:Spem2	UTSW	11	69,708,603 (GRCm39)	missense	probably damaging	0.99
R7000:Spem2	UTSW	11	69,708,582 (GRCm39)	missense	probably benign
R8516:Spem2	UTSW	11	69,707,721 (GRCm39)	missense	possibly damaging	0.53
R9132:Spem2	UTSW	11	69,707,414 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCGGACTTCGTGAGATTC -3'
(R):5'- TTGCCTAAGCGAGTAGAGGC -3'

Sequencing Primer
(F):5'- TGAGATTCCCGGGAGCTGTAAC -3'
(R):5'- ATTATTCACAGTCCCGGATTTGG -3'

Posted On

2015-04-02