Mutagenetix > Incidental Mutations

Incidental Mutation 'R1980:Samt3'

222241

Institutional Source

Beutler Lab

Gene Symbol

Samt3

Ensembl Gene

ENSMUSG00000035454

Gene Name

spermatogenesis associated multipass transmembrane protein 3

Synonyms

MMRRC Submission

039992-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1980 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

86044199-86047313 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 86047134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 211 (M211L)

Ref Sequence

ENSEMBL: ENSMUSP00000036724 (fasta)

Gene Model

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

AlphaFold

A2ARK7

Predicted Effect

probably benign
Transcript: ENSMUST00000047945
AA Change: M211L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000036724
Gene: ENSMUSG00000035454
AA Change: M211L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
A730017C20Rik	T	A	18: 59,075,667	M129K	probably damaging	Het
Acly	A	C	11: 100,495,876	I620S	possibly damaging	Het
Acot8	A	G	2: 164,795,044	F262S	probably damaging	Het
Adgb	C	T	10: 10,433,498	V246I	probably benign	Het
Akap9	T	A	5: 3,972,771	M1200K	probably damaging	Het
Alg11	T	A	8: 22,061,887	F16I	possibly damaging	Het
Apol7c	A	G	15: 77,526,044	V234A	probably benign	Het
Arhgap19	T	G	19: 41,788,345	I122L	possibly damaging	Het
Arhgef37	A	G	18: 61,508,696	S201P	probably damaging	Het
Asgr1	A	T	11: 70,054,946	D16V	probably damaging	Het
Camta2	A	T	11: 70,682,482	C227S	probably benign	Het
Cd22	A	T	7: 30,873,233	L317Q	probably damaging	Het
Cenpf	A	T	1: 189,653,915	I2056K	probably benign	Het
Cenpi	T	A	X: 134,318,033	F161L	possibly damaging	Het
Ciapin1	C	T	8: 94,832,533	V43I	probably benign	Het
Dach1	A	G	14: 97,831,341	L601P	probably damaging	Het
Ddx11	T	A	17: 66,148,739	L711Q	probably damaging	Het
Dsg1a	A	T	18: 20,338,650	N653I	probably damaging	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Galnt5	T	C	2: 58,024,723		probably null	Het
Gemin5	A	G	11: 58,136,917	L935P	probably damaging	Het
Gm11273	T	G	13: 21,501,124	T99P	possibly damaging	Het
Gm9507	A	T	10: 77,811,685	C53*	probably null	Het
Irgm2	A	G	11: 58,220,076	I198V	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Klf12	A	C	14: 100,149,726		probably null	Het
Lpp	C	T	16: 24,661,701	P73L	probably damaging	Het
Lrrc34	G	A	3: 30,642,741	H127Y	probably benign	Het
Lyar	T	C	5: 38,224,709	S12P	probably damaging	Het
Maml3	A	G	3: 52,104,052	I31T	unknown	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Mysm1	A	T	4: 94,952,213	N655K	probably benign	Het
Npnt	T	C	3: 132,948,132	I29M	probably benign	Het
Nrxn1	A	G	17: 91,088,318	W137R	probably benign	Het
Numb	C	T	12: 83,797,344		probably null	Het
Obsl1	A	G	1: 75,505,836	F130S	probably damaging	Het
Olfr1297	T	A	2: 111,621,241	I278F	probably benign	Het
Olfr91	T	G	17: 37,093,403	Q157P	probably damaging	Het
Pbx4	T	C	8: 69,870,126	V294A	probably benign	Het
Pde4dip	A	C	3: 97,756,996	L524R	possibly damaging	Het
Plppr1	G	A	4: 49,337,655	A319T	probably benign	Het
Ppid	A	T	3: 79,593,618	I32F	probably damaging	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr27	A	G	5: 87,843,402	E291G	probably benign	Het
Psme4	A	T	11: 30,832,615	K923N	possibly damaging	Het
Rab25	T	C	3: 88,543,458	T45A	probably damaging	Het
Rapgef1	C	T	2: 29,722,227	P630S	probably benign	Het
Rasa2	T	C	9: 96,570,768	D355G	probably damaging	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rtn4	A	T	11: 29,708,634	E929D	probably benign	Het
Slk	T	G	19: 47,611,989	I151S	probably damaging	Het
Spin1	T	A	13: 51,144,470	V175D	probably damaging	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tmem151b	G	C	17: 45,545,461	P351R	possibly damaging	Het
Tmod1	A	C	4: 46,061,043	Y10S	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm1	T	C	7: 64,208,434	Y225H	possibly damaging	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Tyro3	A	G	2: 119,808,817	D335G	probably benign	Het
Unc79	C	A	12: 103,011,279	Y180*	probably null	Het
Upp1	A	T	11: 9,134,872	D197V	possibly damaging	Het
Vmn1r226	T	A	17: 20,688,046	M180K	possibly damaging	Het
Vtn	T	A	11: 78,501,898	I434N	probably damaging	Het
Zfp329	T	A	7: 12,811,468	N43I	probably benign	Het
Zfp819	A	G	7: 43,616,461	T47A	probably benign	Het
Zyg11b	G	A	4: 108,265,930	T280I	probably damaging	Het

Other mutations in Samt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02103:Samt3	APN	X	86047153	missense	probably damaging	1.00
IGL02525:Samt3	APN	X	86046921	missense	possibly damaging	0.59
R1681:Samt3	UTSW	X	86046650	missense	probably benign	0.45
R1981:Samt3	UTSW	X	86047134	missense	probably benign	0.01
R1982:Samt3	UTSW	X	86047134	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTGGAACCATGTTGTAGAC -3'
(R):5'- TGGCTGGCAGACTTTCAGATG -3'

Sequencing Primer
(F):5'- GAACCATGTTGTAGACCTTTACGGC -3'
(R):5'- GGAGATACAAGCTTGAGACACACAC -3'

Posted On

2014-08-25