Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00532:Samd3'

13907

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samd3

Ensembl Gene

ENSMUSG00000051354

Gene Name

sterile alpha motif domain containing 3

Synonyms

LOC268288

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL00532

Quality Score

Status

Chromosome

Chromosomal Location

26105605-26148070 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26127744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 247 (H247R)

Ref Sequence

ENSEMBL: ENSMUSP00000151558 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060716
AA Change: H247R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354
AA Change: H247R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164660
AA Change: H247R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129054
Gene: ENSMUSG00000051354
AA Change: H247R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218301
AA Change: H274R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219318

Predicted Effect

probably damaging
Transcript: ENSMUST00000220219
AA Change: H247R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	A	G	2: 113,664,411 (GRCm39)	V624A	probably benign	Het
Catsperb	G	A	12: 101,429,378 (GRCm39)	V184M	probably damaging	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Olfm4	T	C	14: 80,258,583 (GRCm39)	V277A	probably benign	Het
Ppp4r3a	A	G	12: 101,010,912 (GRCm39)	L556P	probably damaging	Het
Zfp558	A	T	9: 18,367,883 (GRCm39)	C302S	possibly damaging	Het

Other mutations in Samd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Samd3	APN	10	26,120,425 (GRCm39)	missense	probably benign	0.19
IGL01672:Samd3	APN	10	26,146,067 (GRCm39)	missense	possibly damaging	0.94
IGL02211:Samd3	APN	10	26,109,455 (GRCm39)	missense	probably damaging	1.00
IGL02397:Samd3	APN	10	26,109,474 (GRCm39)	missense	possibly damaging	0.85
IGL02755:Samd3	APN	10	26,120,475 (GRCm39)	missense	probably damaging	1.00
IGL02885:Samd3	APN	10	26,147,762 (GRCm39)	missense	probably benign	0.43
IGL03115:Samd3	APN	10	26,147,606 (GRCm39)	missense	probably damaging	1.00
IGL03157:Samd3	APN	10	26,139,740 (GRCm39)	missense	probably benign	0.05
IGL03172:Samd3	APN	10	26,106,064 (GRCm39)	missense	probably damaging	1.00
BB006:Samd3	UTSW	10	26,127,813 (GRCm39)	missense	probably damaging	1.00
BB016:Samd3	UTSW	10	26,127,813 (GRCm39)	missense	probably damaging	1.00
R0034:Samd3	UTSW	10	26,147,398 (GRCm39)	splice site	probably benign
R0081:Samd3	UTSW	10	26,147,399 (GRCm39)	splice site	probably benign
R0197:Samd3	UTSW	10	26,147,752 (GRCm39)	missense	possibly damaging	0.77
R0566:Samd3	UTSW	10	26,120,396 (GRCm39)	missense	possibly damaging	0.83
R0632:Samd3	UTSW	10	26,120,393 (GRCm39)	missense	possibly damaging	0.86
R0782:Samd3	UTSW	10	26,146,138 (GRCm39)	missense	probably damaging	0.97
R0834:Samd3	UTSW	10	26,147,725 (GRCm39)	missense	probably benign	0.01
R1106:Samd3	UTSW	10	26,147,689 (GRCm39)	missense	possibly damaging	0.57
R1844:Samd3	UTSW	10	26,127,672 (GRCm39)	missense	probably damaging	1.00
R1907:Samd3	UTSW	10	26,147,754 (GRCm39)	nonsense	probably null
R1929:Samd3	UTSW	10	26,139,884 (GRCm39)	splice site	probably benign
R2925:Samd3	UTSW	10	26,127,785 (GRCm39)	missense	probably benign	0.37
R5104:Samd3	UTSW	10	26,139,686 (GRCm39)	missense	possibly damaging	0.61
R5736:Samd3	UTSW	10	26,146,070 (GRCm39)	missense	probably damaging	1.00
R7120:Samd3	UTSW	10	26,106,864 (GRCm39)	missense	possibly damaging	0.77
R7437:Samd3	UTSW	10	26,146,004 (GRCm39)	missense	possibly damaging	0.78
R7510:Samd3	UTSW	10	26,106,006 (GRCm39)	missense	probably benign
R7599:Samd3	UTSW	10	26,139,711 (GRCm39)	missense	probably benign	0.00
R7801:Samd3	UTSW	10	26,139,770 (GRCm39)	missense	possibly damaging	0.57
R7806:Samd3	UTSW	10	26,120,425 (GRCm39)	missense	probably benign	0.19
R7820:Samd3	UTSW	10	26,109,416 (GRCm39)	splice site	probably null
R7929:Samd3	UTSW	10	26,127,813 (GRCm39)	missense	probably damaging	1.00
R8298:Samd3	UTSW	10	26,121,468 (GRCm39)	missense	probably damaging	1.00
R8979:Samd3	UTSW	10	26,120,428 (GRCm39)	missense	possibly damaging	0.93
R9381:Samd3	UTSW	10	26,147,643 (GRCm39)	missense	probably benign	0.08

Posted On

2012-12-06