Mutagenetix > Incidental Mutations

Incidental Mutation 'R7510:Samd3'

582038

Institutional Source

Beutler Lab

Gene Symbol

Samd3

Ensembl Gene

ENSMUSG00000051354

Gene Name

sterile alpha motif domain containing 3

Synonyms

LOC268288

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R7510 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26229707-26272172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26230108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 22 (I22F)

Ref Sequence

ENSEMBL: ENSMUSP00000151853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060716] [ENSMUST00000164660] [ENSMUST00000218301] [ENSMUST00000220219]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000060716

SMART Domains

Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354

Domain	Start	End	E-Value	Type
SAM	1	66	3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164660

SMART Domains

Protein: ENSMUSP00000129054
Gene: ENSMUSG00000051354

Domain	Start	End	E-Value	Type
SAM	1	66	3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218301
AA Change: I22F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000220219

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,993,896	R320C	probably benign	Het
Bend4	A	G	5: 67,427,384	F66L	unknown	Het
Brca2	T	C	5: 150,536,691	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,845,322	K134*	probably null	Het
Catsper1	A	T	19: 5,339,550	T498S	probably benign	Het
Ccdc177	C	A	12: 80,757,683	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,713,489	A56S	possibly damaging	Het
Disp1	T	C	1: 183,088,411	N815S	probably damaging	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Fancf	A	G	7: 51,862,205	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,737,789	H361Q	possibly damaging	Het
Furin	A	G	7: 80,393,585	S293P	probably damaging	Het
Ghsr	A	T	3: 27,372,374	D193V	probably benign	Het
Gm14403	T	A	2: 177,508,610	N116K	probably benign	Het
Gpr31b	A	G	17: 13,051,670	L204P	probably damaging	Het
Hexim1	A	G	11: 103,117,241	E107G	probably benign	Het
Hspa14	T	C	2: 3,498,122	S212G	probably benign	Het
Il18r1	T	A	1: 40,474,875	H80Q	probably benign	Het
Itpr3	A	G	17: 27,089,039	T267A	probably damaging	Het
Kidins220	T	A	12: 24,992,269	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,993,377	F228L	probably benign	Het
Ltbp1	T	A	17: 75,352,717	V1288E	probably damaging	Het
Madd	T	C	2: 91,177,976	T194A	possibly damaging	Het
Mlana	G	A	19: 29,704,672	G42S	probably benign	Het
Mlxipl	A	G	5: 135,133,118	E548G	possibly damaging	Het
Mmab	A	T	5: 114,435,222	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Nrf1	C	T	6: 30,151,634	T490I	possibly damaging	Het
Numbl	A	G	7: 27,271,987		probably null	Het
Olfr1014	T	A	2: 85,776,809	V75D	probably damaging	Het
Olfr111	T	A	17: 37,530,589	I204N	probably damaging	Het
Olfr1148	T	A	2: 87,833,528	I163K	probably damaging	Het
Olfr1350	C	T	7: 6,569,961		probably benign	Het
Olfr155	A	G	4: 43,854,482	T58A	probably benign	Het
Olfr803	G	T	10: 129,691,920	N40K	probably damaging	Het
Papln	G	A	12: 83,772,173	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,449,592	Y584H	probably damaging	Het
Pde7b	T	C	10: 20,413,015	D310G	possibly damaging	Het
Plin5	T	A	17: 56,113,975	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,368,801	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,927,992	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,376,470	R728G	possibly damaging	Het
Prkca	A	T	11: 107,983,994	V374E	possibly damaging	Het
Prss3	A	T	6: 41,375,110	L73*	probably null	Het
Prss51	G	A	14: 64,096,040	D33N	probably damaging	Het
Rfwd3	A	G	8: 111,280,027	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 98,994,230	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,616,068	I182V	possibly damaging	Het
Saa2	T	A	7: 46,753,509	D61E	probably damaging	Het
Sap130	C	T	18: 31,667,004	P403L	probably damaging	Het
Sap130	A	G	18: 31,711,215	T813A	probably damaging	Het
Scfd2	A	G	5: 74,212,327	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,512,603	F119I	probably benign	Het
Serpinb9	T	A	13: 33,010,785	F175I	probably damaging	Het
Slc12a3	G	T	8: 94,365,849	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,428,268	V169A	probably benign	Het
Synj1	A	G	16: 90,938,677	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,233	H182L	probably benign	Het
Tigd5	T	C	15: 75,910,419	V210A	probably benign	Het
Tssc4	G	A	7: 143,069,981	E9K	possibly damaging	Het
Txk	C	G	5: 72,736,383	C18S	unknown	Het
Uaca	G	A	9: 60,850,205		probably null	Het
Vmn2r1	A	C	3: 64,086,501	K89N	probably damaging	Het
Zfp160	G	A	17: 21,026,393	E402K	probably benign	Het

Other mutations in Samd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Samd3	APN	10	26251846	missense	probably damaging	1.00
IGL00754:Samd3	APN	10	26244527	missense	probably benign	0.19
IGL01672:Samd3	APN	10	26270169	missense	possibly damaging	0.94
IGL02211:Samd3	APN	10	26233557	missense	probably damaging	1.00
IGL02397:Samd3	APN	10	26233576	missense	possibly damaging	0.85
IGL02755:Samd3	APN	10	26244577	missense	probably damaging	1.00
IGL02885:Samd3	APN	10	26271864	missense	probably benign	0.43
IGL03115:Samd3	APN	10	26271708	missense	probably damaging	1.00
IGL03157:Samd3	APN	10	26263842	missense	probably benign	0.05
IGL03172:Samd3	APN	10	26230166	missense	probably damaging	1.00
BB006:Samd3	UTSW	10	26251915	missense	probably damaging	1.00
BB016:Samd3	UTSW	10	26251915	missense	probably damaging	1.00
R0034:Samd3	UTSW	10	26271500	splice site	probably benign
R0081:Samd3	UTSW	10	26271501	splice site	probably benign
R0197:Samd3	UTSW	10	26271854	missense	possibly damaging	0.77
R0566:Samd3	UTSW	10	26244498	missense	possibly damaging	0.83
R0632:Samd3	UTSW	10	26244495	missense	possibly damaging	0.86
R0782:Samd3	UTSW	10	26270240	missense	probably damaging	0.97
R0834:Samd3	UTSW	10	26271827	missense	probably benign	0.01
R1106:Samd3	UTSW	10	26271791	missense	possibly damaging	0.57
R1844:Samd3	UTSW	10	26251774	missense	probably damaging	1.00
R1907:Samd3	UTSW	10	26271856	nonsense	probably null
R1929:Samd3	UTSW	10	26263986	splice site	probably benign
R2925:Samd3	UTSW	10	26251887	missense	probably benign	0.37
R5104:Samd3	UTSW	10	26263788	missense	possibly damaging	0.61
R5736:Samd3	UTSW	10	26270172	missense	probably damaging	1.00
R7120:Samd3	UTSW	10	26230966	missense	possibly damaging	0.77
R7437:Samd3	UTSW	10	26270106	missense	possibly damaging	0.78
R7599:Samd3	UTSW	10	26263813	missense	probably benign	0.00
R7801:Samd3	UTSW	10	26263872	missense	possibly damaging	0.57
R7806:Samd3	UTSW	10	26244527	missense	probably benign	0.19
R7820:Samd3	UTSW	10	26233518	splice site	probably null
R7929:Samd3	UTSW	10	26251915	missense	probably damaging	1.00
R8298:Samd3	UTSW	10	26245570	missense	probably damaging	1.00
R8979:Samd3	UTSW	10	26244530	missense	possibly damaging	0.93
R9381:Samd3	UTSW	10	26271745	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- GCCATGTATTGAAAGGAGTTTAGC -3'
(R):5'- AAACTGCCTCAGTCTGTGGG -3'

Sequencing Primer
(F):5'- TGTATTGAAAGGAGTTTAGCAGAGG -3'
(R):5'- CTGCCTCAGTCTGTGGGAAAGAG -3'

Posted On

2019-10-17