Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00782:Samd1'

13905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samd1

Ensembl Gene

ENSMUSG00000079003

Gene Name

sterile alpha motif domain containing 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

IGL00782

Quality Score

Status

Chromosome

Chromosomal Location

84724145-84727044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84726246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 464 (F464S)

Ref Sequence

ENSEMBL: ENSMUSP00000092853 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005606] [ENSMUST00000060357] [ENSMUST00000095228] [ENSMUST00000172548] [ENSMUST00000174570] [ENSMUST00000211558]

AlphaFold

D3YXK1

Predicted Effect

probably benign
Transcript: ENSMUST00000005606

SMART Domains

Protein: ENSMUSP00000005606
Gene: ENSMUSG00000005469

Domain	Start	End	E-Value	Type
S_TKc	44	298	2e-107	SMART
S_TK_X	299	344	3.7e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060357

SMART Domains

Protein: ENSMUSP00000062468
Gene: ENSMUSG00000046408

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
Pfam:DUF3314	122	278	3.2e-67	PFAM
low complexity region	282	301	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000095228
AA Change: F464S

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

SMART Domains

Protein: ENSMUSP00000092853
Gene: ENSMUSG00000079003
AA Change: F464S

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
low complexity region	100	230	N/A	INTRINSIC
low complexity region	256	277	N/A	INTRINSIC
low complexity region	278	301	N/A	INTRINSIC
low complexity region	302	323	N/A	INTRINSIC
low complexity region	402	423	N/A	INTRINSIC
SAM	440	506	2.91e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140120

Predicted Effect

probably benign
Transcript: ENSMUST00000172548

SMART Domains

Protein: ENSMUSP00000134671
Gene: ENSMUSG00000046408

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
Pfam:DUF3314	120	277	3.8e-75	PFAM
low complexity region	281	300	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174570

SMART Domains

Protein: ENSMUSP00000134486
Gene: ENSMUSG00000046408

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
Pfam:DUF3314	120	243	2.6e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209606

Predicted Effect

unknown
Transcript: ENSMUST00000210523
AA Change: F213S

Predicted Effect

probably benign
Transcript: ENSMUST00000211558

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	T	7: 119,172,391 (GRCm39)	E78V	probably damaging	Het
Atxn7	A	G	14: 14,096,218 (GRCm38)	I508V	possibly damaging	Het
Cecr2	A	G	6: 120,738,582 (GRCm39)	N1075S	probably benign	Het
Clcn3	A	G	8: 61,375,826 (GRCm39)	I689T	probably damaging	Het
Cntnap3	T	C	13: 64,893,619 (GRCm39)		probably benign	Het
Defb11	T	C	8: 22,395,510 (GRCm39)	I56V	probably benign	Het
Ercc5	A	G	1: 44,203,095 (GRCm39)	N244S	probably damaging	Het
Gabrg3	A	G	7: 57,031,415 (GRCm39)	S42P	probably damaging	Het
Hcrtr2	A	T	9: 76,137,779 (GRCm39)		probably benign	Het
Jcad	T	C	18: 4,675,073 (GRCm39)	L945S	probably benign	Het
Lrp2	T	C	2: 69,331,989 (GRCm39)	M1589V	probably benign	Het
Prkg1	C	T	19: 30,556,153 (GRCm39)		probably benign	Het
Slc35b3	A	G	13: 39,127,116 (GRCm39)	S213P	possibly damaging	Het
Taar1	A	G	10: 23,796,344 (GRCm39)	N14S	probably benign	Het
Tinf2	A	G	14: 55,917,921 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,528,555 (GRCm39)	N2140S	probably benign	Het
Zfp780b	T	C	7: 27,664,186 (GRCm39)	D123G	probably benign	Het

Other mutations in Samd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0738:Samd1	UTSW	8	84,725,625 (GRCm39)	unclassified	probably benign
R2507:Samd1	UTSW	8	84,725,625 (GRCm39)	unclassified	probably benign
R3890:Samd1	UTSW	8	84,724,361 (GRCm39)	unclassified	probably benign
R4794:Samd1	UTSW	8	84,726,346 (GRCm39)	missense	probably damaging	1.00
R4911:Samd1	UTSW	8	84,725,618 (GRCm39)	unclassified	probably benign
R5261:Samd1	UTSW	8	84,725,625 (GRCm39)	unclassified	probably benign
R6766:Samd1	UTSW	8	84,726,361 (GRCm39)	missense	possibly damaging	0.80
R9750:Samd1	UTSW	8	84,725,989 (GRCm39)	missense	probably damaging	0.98
Z1088:Samd1	UTSW	8	84,725,625 (GRCm39)	unclassified	probably benign

Posted On

2012-12-06