Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02103:Samt3'

279838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samt3

Ensembl Gene

ENSMUSG00000035454

Gene Name

spermatogenesis associated multipass transmembrane protein 3

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.027) question?

Stock #

IGL02103

Quality Score

Status

Chromosome

Chromosomal Location

86044199-86047313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86047153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 217 (Q217L)

Ref Sequence

ENSEMBL: ENSMUSP00000036724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047945]

AlphaFold

A2ARK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000047945
AA Change: Q217L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036724
Gene: ENSMUSG00000035454
AA Change: Q217L

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	12	164	6e-43	BLAST
transmembrane domain	187	209	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	A	12: 84,612,364 (GRCm38)	T206M	probably benign	Het
Adcy3	T	A	12: 4,134,390 (GRCm38)	V22D	possibly damaging	Het
Alb	G	A	5: 90,464,131 (GRCm38)	E140K	probably benign	Het
Aph1a	G	A	3: 95,895,813 (GRCm38)	V193I	probably damaging	Het
Asb2	G	A	12: 103,333,496 (GRCm38)	R178*	probably null	Het
Celf3	A	T	3: 94,486,801 (GRCm38)	Q137L	probably damaging	Het
Cmya5	T	C	13: 93,092,127 (GRCm38)	D2151G	probably benign	Het
Cuedc1	T	A	11: 88,188,799 (GRCm38)	S353T	probably damaging	Het
Dlg5	A	C	14: 24,144,346 (GRCm38)	L1709R	probably damaging	Het
Dst	T	C	1: 34,190,118 (GRCm38)	I1939T	possibly damaging	Het
Emx2	A	T	19: 59,461,698 (GRCm38)	N149I	probably benign	Het
Fancm	A	G	12: 65,095,784 (GRCm38)	D472G	probably benign	Het
Fasn	T	C	11: 120,811,936 (GRCm38)	Y1700C	probably damaging	Het
Fat2	T	A	11: 55,289,296 (GRCm38)	R1406S	probably damaging	Het
Fat4	C	A	3: 38,889,199 (GRCm38)	T747K	probably damaging	Het
Fer	A	G	17: 64,138,928 (GRCm38)	M795V	probably benign	Het
Gm5916	A	G	9: 36,128,674 (GRCm38)	L6P	probably damaging	Het
Gpr139	A	G	7: 119,145,132 (GRCm38)	F77L	possibly damaging	Het
Kcnu1	T	C	8: 25,905,948 (GRCm38)	S654P	possibly damaging	Het
Kdm5c	T	A	X: 152,248,766 (GRCm38)	F408L	probably damaging	Het
Kel	A	G	6: 41,702,389 (GRCm38)	S147P	probably benign	Het
Klra5	A	T	6: 129,911,344 (GRCm38)		probably null	Het
Mastl	A	G	2: 23,139,998 (GRCm38)	S239P	probably benign	Het
Med18	A	T	4: 132,459,666 (GRCm38)	V174D	probably damaging	Het
Mgat4a	A	T	1: 37,462,926 (GRCm38)	M247K	possibly damaging	Het
Mx2	A	C	16: 97,544,595 (GRCm38)	D71A	probably damaging	Het
Nxt1	G	T	2: 148,675,644 (GRCm38)	E102*	probably null	Het
Or14j1	A	G	17: 37,835,278 (GRCm38)	Q93R	possibly damaging	Het
Or3a1	A	G	11: 74,335,036 (GRCm38)	F65S	probably damaging	Het
Or7g16	T	C	9: 18,815,709 (GRCm38)	N195S	probably damaging	Het
Pcdhb16	T	A	18: 37,480,108 (GRCm38)	V707E	probably benign	Het
Pdzrn4	T	A	15: 92,769,887 (GRCm38)	V640E	probably damaging	Het
Piwil4	T	C	9: 14,725,986 (GRCm38)		probably null	Het
Pla2g4a	A	T	1: 149,901,199 (GRCm38)	D55E	probably damaging	Het
Plekhg2	C	A	7: 28,360,076 (GRCm38)	R1276L	probably damaging	Het
Psd4	G	A	2: 24,400,528 (GRCm38)	W539*	probably null	Het
Rae1	G	A	2: 173,003,513 (GRCm38)	E33K	probably damaging	Het
Rbm12b1	T	A	4: 12,145,563 (GRCm38)	F512I	probably damaging	Het
Rfx6	A	G	10: 51,726,856 (GRCm38)	D823G	possibly damaging	Het
Selenbp2	A	G	3: 94,698,131 (GRCm38)	N134S	probably null	Het
Selenoo	T	C	15: 89,099,970 (GRCm38)	V663A	probably damaging	Het
Sp4	G	T	12: 118,299,549 (GRCm38)	T254N	probably damaging	Het
Spdya	A	G	17: 71,578,247 (GRCm38)	K232R	probably benign	Het
Stom	A	T	2: 35,320,389 (GRCm38)	V201E	probably benign	Het
Sycp3	A	G	10: 88,466,472 (GRCm38)	K108R	possibly damaging	Het
Usp2	A	G	9: 44,089,128 (GRCm38)		probably benign	Het
Vmn1r226	T	C	17: 20,687,664 (GRCm38)	S53P	probably damaging	Het
Vmn2r14	C	T	5: 109,224,483 (GRCm38)	G47D	probably damaging	Het
Vwf	T	G	6: 125,646,355 (GRCm38)	L1805W	probably damaging	Het
Washc3	A	T	10: 88,201,825 (GRCm38)	Q22L	probably damaging	Het
Wdr81	T	A	11: 75,444,720 (GRCm38)	D1761V	probably damaging	Het

Other mutations in Samt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02525:Samt3	APN	X	86,046,921 (GRCm38)	missense	possibly damaging	0.59
R1681:Samt3	UTSW	X	86,046,650 (GRCm38)	missense	probably benign	0.45
R1980:Samt3	UTSW	X	86,047,134 (GRCm38)	missense	probably benign	0.01
R1981:Samt3	UTSW	X	86,047,134 (GRCm38)	missense	probably benign	0.01
R1982:Samt3	UTSW	X	86,047,134 (GRCm38)	missense	probably benign	0.01

Posted On

2015-04-16