Mutagenetix > Incidental Mutation

Incidental Mutation 'R6670:Samd5'

527106

Institutional Source

Beutler Lab

Gene Symbol

Samd5

Ensembl Gene

ENSMUSG00000060487

Gene Name

sterile alpha motif domain containing 5

Synonyms

E130306M17Rik

MMRRC Submission

044790-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9498680-9550952 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 9504808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100070]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000100070

SMART Domains

Protein: ENSMUSP00000097648
Gene: ENSMUSG00000060487

Domain	Start	End	E-Value	Type
SAM	1	65	2.73e-10	SMART
low complexity region	76	92	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221079

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,827,850 (GRCm39)	1544	probably benign	Het
Acsm3	T	A	7: 119,379,978 (GRCm39)		probably null	Het
AW551984	T	C	9: 39,504,292 (GRCm39)	D558G	probably damaging	Het
Bcl9l	GTGAACATGAACATGAACATGAAC	GTGAACATGAACATGAACATGAACATGAAC	9: 44,418,369 (GRCm39)		probably benign	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Ccdc12	T	G	9: 110,537,595 (GRCm39)		probably null	Het
Ctsl	T	C	13: 64,511,916 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,494,068 (GRCm39)	D460E	probably damaging	Het
Dnttip2	T	A	3: 122,069,870 (GRCm39)	S362T	probably damaging	Het
Fbxw16	T	A	9: 109,267,280 (GRCm39)	D317V	probably damaging	Het
Fbxw9	T	A	8: 85,788,839 (GRCm39)	N196K	possibly damaging	Het
Grap	A	G	11: 61,551,064 (GRCm39)	D32G	probably damaging	Het
Hhatl	T	C	9: 121,618,137 (GRCm39)	D206G	probably damaging	Het
Hrnr	A	T	3: 93,239,192 (GRCm39)	Q3143H	unknown	Het
Ighv1-62-1	T	C	12: 115,350,529 (GRCm39)	Y46C	probably damaging	Het
Krtap16-3	A	T	16: 88,759,540 (GRCm39)	Y58N	unknown	Het
Mef2c	A	G	13: 83,810,716 (GRCm39)	K384R	probably damaging	Het
Nalcn	A	G	14: 123,702,084 (GRCm39)	Y476H	possibly damaging	Het
Oxgr1	A	T	14: 120,259,669 (GRCm39)	N179K	probably damaging	Het
Polk	G	A	13: 96,633,138 (GRCm39)	Q302*	probably null	Het
Rab3gap1	T	A	1: 127,858,512 (GRCm39)	S540R	probably benign	Het
Sema6d	GTGATAC	G	2: 124,496,762 (GRCm39)		probably benign	Het
Slc1a6	C	A	10: 78,623,646 (GRCm39)	A15D	probably benign	Het
Slc8a1	A	G	17: 81,956,883 (GRCm39)	C52R	probably damaging	Het
Sod2	T	A	17: 13,227,252 (GRCm39)	Y69N	possibly damaging	Het
Tank	T	C	2: 61,474,768 (GRCm39)		probably null	Het
Tbc1d23	A	T	16: 57,034,580 (GRCm39)	I73N	probably benign	Het
Tnf	A	C	17: 35,420,800 (GRCm39)	M6R	possibly damaging	Het
Trmt2a	C	T	16: 18,068,341 (GRCm39)	A16V	possibly damaging	Het
Ttn	A	G	2: 76,556,055 (GRCm39)	Y21990H	probably damaging	Het
Uaca	C	T	9: 60,779,306 (GRCm39)	S1231L	probably benign	Het
Ubr1	A	G	2: 120,754,611 (GRCm39)		probably null	Het
Unc13b	A	G	4: 43,255,562 (GRCm39)	D3849G	probably damaging	Het
Vmn2r75	T	A	7: 85,797,644 (GRCm39)	D723V	probably damaging	Het
Wnt2	C	A	6: 18,028,091 (GRCm39)	V48L	possibly damaging	Het

Other mutations in Samd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01337:Samd5	APN	10	9,504,768 (GRCm39)	missense	probably benign
R0128:Samd5	UTSW	10	9,550,683 (GRCm39)	missense	probably damaging	1.00
R0130:Samd5	UTSW	10	9,550,683 (GRCm39)	missense	probably damaging	1.00
R1120:Samd5	UTSW	10	9,504,792 (GRCm39)	missense	possibly damaging	0.75
R6074:Samd5	UTSW	10	9,550,334 (GRCm39)	missense	possibly damaging	0.58
R7595:Samd5	UTSW	10	9,504,738 (GRCm39)	missense	probably benign
R8057:Samd5	UTSW	10	9,550,641 (GRCm39)	missense	probably damaging	1.00
R9224:Samd5	UTSW	10	9,550,259 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTACTCCTGACTACTCCAAGAG -3'
(R):5'- GCTCTTCCATTATCAGCTTAAAGGAG -3'

Sequencing Primer
(F):5'- AAGTGTTTGCAGAGTCACCATCC -3'
(R):5'- CCATTATCAGCTTAAAGGAGAAAGTG -3'

Posted On

2018-07-23