Mutagenetix > Incidental Mutation

Incidental Mutation 'R4567:Smap2'

343339

Institutional Source

Beutler Lab

Gene Symbol

Smap2

Ensembl Gene

ENSMUSG00000032870

Gene Name

small ArfGAP 2

Synonyms

Smap1l, Smap2, 1810031K02Rik

MMRRC Submission

041791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4567 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120825514-120874444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120842508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 41 (W41G)

Ref Sequence

ENSEMBL: ENSMUSP00000035800 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043200]

AlphaFold

Q7TN29

Predicted Effect

probably damaging
Transcript: ENSMUST00000043200
AA Change: W41G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035800
Gene: ENSMUSG00000032870
AA Change: W41G

Domain	Start	End	E-Value	Type
ArfGap	13	131	2.06e-44	SMART
low complexity region	216	224	N/A	INTRINSIC
low complexity region	274	293	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC

Meta Mutation Damage Score

0.9665

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (38/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility associated with globozoospermia, asthenozoospermia and abnormal acrosome formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,315,499 (GRCm39)	L182Q	probably damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Alg12	T	C	15: 88,690,556 (GRCm39)		probably benign	Het
Asmt	A	G	X: 169,110,261 (GRCm39)		probably null	Het
Atp10b	T	C	11: 43,088,384 (GRCm39)	I330T	probably benign	Het
Ceacam23	T	C	7: 17,642,891 (GRCm39)	S434P	probably damaging	Het
Dennd5a	T	C	7: 109,498,942 (GRCm39)	M998V	probably benign	Het
Erbb3	A	G	10: 128,414,944 (GRCm39)	S401P	probably damaging	Het
Gm10718	A	T	9: 3,023,716 (GRCm39)	T56S	probably benign	Het
Gm1527	A	T	3: 28,968,556 (GRCm39)	N203Y	probably damaging	Het
Hsf2bp	C	T	17: 32,165,708 (GRCm39)	V296M	probably benign	Het
Htr1d	T	A	4: 136,170,836 (GRCm39)	V355E	probably benign	Het
Ints11	T	C	4: 155,970,132 (GRCm39)	V203A	probably damaging	Het
Iqsec3	A	G	6: 121,364,721 (GRCm39)	V856A	probably damaging	Het
Nherf4	C	A	9: 44,160,323 (GRCm39)	V294L	possibly damaging	Het
Or2ag1b	G	A	7: 106,288,420 (GRCm39)	Q173*	probably null	Het
Or2y6	T	C	11: 52,104,291 (GRCm39)	H175R	probably damaging	Het
Or5t18	A	G	2: 86,637,146 (GRCm39)	S66P	probably damaging	Het
Phf11	A	T	14: 59,488,627 (GRCm39)	Y57N	probably damaging	Het
Ppfia2	G	A	10: 106,701,267 (GRCm39)		probably null	Het
Prss23	T	A	7: 89,160,074 (GRCm39)		probably benign	Het
Rasl2-9	AGG	A	7: 5,128,374 (GRCm39)		probably null	Het
Rcn2	A	T	9: 55,960,266 (GRCm39)	I178F	probably benign	Het
Rtn1	C	T	12: 72,259,261 (GRCm39)		probably benign	Het
Sik2	A	G	9: 50,909,876 (GRCm39)	V59A	probably damaging	Het
Slc25a42	A	T	8: 70,641,504 (GRCm39)	M159K	probably damaging	Het
Slc9a4	T	C	1: 40,619,737 (GRCm39)	L21P	probably damaging	Het
Sox6	T	C	7: 115,261,557 (GRCm39)	I220V	probably benign	Het
Spata31e2	T	C	1: 26,722,198 (GRCm39)	D994G	probably benign	Het
Syt17	A	G	7: 118,033,495 (GRCm39)	V171A	probably benign	Het
Tjp1	A	G	7: 64,956,249 (GRCm39)	F1332S	probably damaging	Het
Trim3	C	T	7: 105,262,623 (GRCm39)	V512I	possibly damaging	Het
Uhmk1	G	A	1: 170,032,686 (GRCm39)	Q282*	probably null	Het
Ushbp1	G	A	8: 71,838,361 (GRCm39)	R648W	probably damaging	Het

Other mutations in Smap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Smap2	APN	4	120,830,395 (GRCm39)	missense	probably damaging	0.99
IGL01727:Smap2	APN	4	120,839,405 (GRCm39)	splice site	probably benign
IGL02236:Smap2	APN	4	120,832,587 (GRCm39)	missense	probably benign	0.00
twizzler	UTSW	4	120,842,508 (GRCm39)	missense	probably damaging	1.00
R0564:Smap2	UTSW	4	120,834,174 (GRCm39)	missense	probably benign	0.03
R5132:Smap2	UTSW	4	120,830,370 (GRCm39)	missense	possibly damaging	0.79
R5198:Smap2	UTSW	4	120,873,984 (GRCm39)	missense	possibly damaging	0.89
R6469:Smap2	UTSW	4	120,830,282 (GRCm39)	critical splice donor site	probably benign
R6470:Smap2	UTSW	4	120,830,282 (GRCm39)	critical splice donor site	probably benign
R6472:Smap2	UTSW	4	120,830,282 (GRCm39)	critical splice donor site	probably benign
R6504:Smap2	UTSW	4	120,830,282 (GRCm39)	critical splice donor site	probably benign
R6516:Smap2	UTSW	4	120,840,303 (GRCm39)	critical splice donor site	probably null
R7013:Smap2	UTSW	4	120,839,365 (GRCm39)	missense	probably damaging	1.00
R7270:Smap2	UTSW	4	120,829,264 (GRCm39)	missense	probably benign	0.00
R7634:Smap2	UTSW	4	120,873,996 (GRCm39)	missense	probably benign
R9674:Smap2	UTSW	4	120,826,745 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGAAACTGCTCTTACATGGGTAC -3'
(R):5'- GACACTAAAAGCATGTCTTGTGCC -3'

Sequencing Primer
(F):5'- CTGCTCTTACATGGGTACAAGAG -3'
(R):5'- TGTCTGAAACTGGCAAGTCC -3'

Posted On

2015-09-24