Mutagenetix > Incidental Mutation

Incidental Mutation 'R7120:Samd3'

551945

Institutional Source

Beutler Lab

Gene Symbol

Samd3

Ensembl Gene

ENSMUSG00000051354

Gene Name

sterile alpha motif domain containing 3

Synonyms

LOC268288

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R7120 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26229707-26272172 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26230966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 73 (T73M)

Ref Sequence

ENSEMBL: ENSMUSP00000129054 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060716
AA Change: T73M

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: T73M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164660
AA Change: T73M

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129054
Gene: ENSMUSG00000051354
AA Change: T73M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218301
AA Change: T100M

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220219
AA Change: T73M

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	A	T	3: 36,481,867	Q94L	unknown	Het
4933411K16Rik	C	T	19: 42,052,673	A81V	probably benign	Het
Actr3	A	C	1: 125,403,432	Y273*	probably null	Het
Aoc1	T	A	6: 48,906,597	I469N	probably damaging	Het
Arhgef28	A	T	13: 97,944,539	L1270Q	probably damaging	Het
Atp2c1	G	A	9: 105,420,186	Q780*	probably null	Het
Bbs10	T	C	10: 111,299,449	V141A	possibly damaging	Het
Bivm	A	T	1: 44,126,446	T19S	probably benign	Het
Cacna1h	T	G	17: 25,391,507	H675P	probably benign	Het
Cadps	T	A	14: 12,439,919	L1204F	probably damaging	Het
Cald1	T	C	6: 34,686,076		probably null	Het
Calr	A	G	8: 84,842,828	M357T	probably damaging	Het
Ccni	A	T	5: 93,183,331	Y260*	probably null	Het
Csrnp3	C	A	2: 66,023,010	T594K	probably damaging	Het
Dek	A	T	13: 47,100,183	M152K	unknown	Het
Depdc1b	T	C	13: 108,362,247	W155R	probably benign	Het
Ehd1	A	G	19: 6,297,561	K315R	probably benign	Het
Epn3	C	A	11: 94,492,428	R323S	probably benign	Het
Fam57b	T	C	7: 126,829,333	L221P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fbxo10	T	A	4: 45,040,533	K891*	probably null	Het
Fras1	G	T	5: 96,752,960	G3013*	probably null	Het
Gbp2b	A	G	3: 142,606,746	T297A	probably benign	Het
Gbp7	T	C	3: 142,543,973	S402P	probably damaging	Het
Gclc	T	C	9: 77,786,750	Y329H	probably damaging	Het
Gfpt1	A	G	6: 87,087,393	H655R	probably benign	Het
Gm4787	C	A	12: 81,378,486	M299I	probably benign	Het
Grb7	C	A	11: 98,454,991	R532S	probably benign	Het
Hmcn1	A	T	1: 150,700,541	I2066N	probably damaging	Het
Hnrnpll	T	C	17: 80,034,057	T518A	probably benign	Het
Hps3	G	A	3: 20,011,541	R712W	probably damaging	Het
Hspd1	A	G	1: 55,079,229	V406A	probably benign	Het
Igkv2-112	T	C	6: 68,220,526	F61L	probably benign	Het
Iqcf5	G	A	9: 106,515,796	R84H	probably damaging	Het
Itgad	T	A	7: 128,173,974	M1K	probably null	Het
Kmt2d	A	G	15: 98,861,065	S1292P	unknown	Het
Macc1	C	A	12: 119,445,745	Q83K	possibly damaging	Het
Map3k4	G	T	17: 12,271,467	A359E	probably damaging	Het
Mfap3	T	A	11: 57,528,217	C68S	probably damaging	Het
Mipep	C	T	14: 60,875,247	R660C	possibly damaging	Het
Morc2b	A	T	17: 33,135,813	L995Q	probably damaging	Het
Mrc1	A	G	2: 14,308,697	N913S	probably damaging	Het
N4bp1	C	A	8: 86,860,867	C481F	probably benign	Het
Nae1	A	G	8: 104,526,278		probably null	Het
Nup214	T	A	2: 32,051,042	V29E	probably benign	Het
Olfr251	T	C	9: 38,378,649	L250P	probably damaging	Het
Olfr390	A	T	11: 73,787,114	M59L	probably damaging	Het
Orai1	A	G	5: 123,029,472	E236G	possibly damaging	Het
P2rx7	A	G	5: 122,681,294	Y593C	probably benign	Het
Pcbp2	A	G	15: 102,474,678	D77G	possibly damaging	Het
Pcdha8	G	A	18: 36,993,787	V441M	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plaa	A	G	4: 94,582,682	S406P	possibly damaging	Het
Plekhh1	C	A	12: 79,070,939	P903Q	probably benign	Het
Plekhh3	T	C	11: 101,168,238	E92G	probably damaging	Het
Ptpn9	T	C	9: 57,059,882	F463S	probably damaging	Het
Ptprn2	A	C	12: 116,872,056	E337A	probably benign	Het
Rubcn	C	T	16: 32,836,469	R527Q	probably damaging	Het
Sfxn4	T	A	19: 60,852,039	K173*	probably null	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Son	T	G	16: 91,670,526	N2258K	unknown	Het
Sspo	A	T	6: 48,465,571	H2000L	probably benign	Het
Syne1	C	T	10: 5,293,971	S2731N	probably benign	Het
Syt6	T	C	3: 103,587,357	Y213H	probably damaging	Het
Tkt	A	G	14: 30,559,822	N99S	probably benign	Het
Tmem258	G	A	19: 10,204,238		probably benign	Het
Tnks1bp1	T	C	2: 85,072,097	S1702P	probably damaging	Het
Tpte	A	G	8: 22,327,673	D225G	probably damaging	Het
Trak1	T	A	9: 121,460,498	F625L	probably benign	Het
Ttc33	G	T	15: 5,212,007	C77F	probably benign	Het
Ugt1a2	A	G	1: 88,200,800	H55R	probably damaging	Het
Vmn1r169	G	T	7: 23,578,019	V279L	probably benign	Het
Vmn2r25	T	C	6: 123,828,435	K488E	possibly damaging	Het
Vmn2r8	A	T	5: 108,808,638	D39E	possibly damaging	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
R7437:Samd3	UTSW	10	26270106	missense	possibly damaging	0.78
R7510:Samd3	UTSW	10	26230108	missense	probably benign
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'- GTGACTGCCATCTCAAGCTTAG -3'
(R):5'- AGTCCTGTGCATACCATCTAACTG -3'

Sequencing Primer
(F):5'- GCCCATGTTTTCCTGGAAAG -3'
(R):5'- CCATCTAACTGAAATTTGTCCACAG -3'

Posted On

2019-05-15