Mutagenetix > Incidental Mutation

Incidental Mutation 'R0738:Samd1'

70580

Institutional Source

Beutler Lab

Gene Symbol

Samd1

Ensembl Gene

ENSMUSG00000079003

Gene Name

sterile alpha motif domain containing 1

Synonyms

MMRRC Submission

038919-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R0738 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

84724145-84727044 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CGAGGAGGAGGAGGAGGAGGA to CGAGGAGGAGGAGGAGGA at 84725625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147256 (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 benign
Transcript: ENSMUST00000095228

SMART Domains

Protein: ENSMUSP00000092853
Gene: ENSMUSG00000079003

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

probably benign
Transcript: ENSMUST00000210523

Predicted Effect

probably benign
Transcript: ENSMUST00000211558

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.6%
20x: 92.3%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,388,812 (GRCm39)	M189K	probably benign	Het
Ank1	A	T	8: 23,604,130 (GRCm39)	E964D	probably damaging	Het
Ankhd1	A	G	18: 36,778,302 (GRCm39)		probably benign	Het
Cd9	G	T	6: 125,439,103 (GRCm39)	Q169K	probably benign	Het
Cdc42bpa	T	A	1: 179,827,027 (GRCm39)		probably benign	Het
Ch25h	T	C	19: 34,451,787 (GRCm39)	N247S	possibly damaging	Het
Dctn1	T	C	6: 83,167,089 (GRCm39)		probably null	Het
Defa22	C	T	8: 21,652,391 (GRCm39)	T19I	probably benign	Het
Dscam	T	C	16: 96,620,981 (GRCm39)	N576D	possibly damaging	Het
Epha3	T	C	16: 63,415,975 (GRCm39)	M675V	probably damaging	Het
Fam241a	C	A	3: 127,664,442 (GRCm39)	A120S	possibly damaging	Het
Fkbp8	T	A	8: 70,982,320 (GRCm39)	I86N	probably damaging	Het
Herc4	C	T	10: 63,124,928 (GRCm39)	P514L	possibly damaging	Het
Ide	A	T	19: 37,255,364 (GRCm39)	L813*	probably null	Het
Igkv12-41	G	A	6: 69,835,675 (GRCm39)	Q26*	probably null	Het
Itsn2	T	C	12: 4,685,681 (GRCm39)	V483A	probably benign	Het
Kcp	A	T	6: 29,490,438 (GRCm39)	I1002N	probably benign	Het
Lrfn5	G	T	12: 61,887,378 (GRCm39)	E389*	probably null	Het
Lrp6	G	T	6: 134,519,008 (GRCm39)	A19E	probably benign	Het
Mad1l1	A	G	5: 140,286,315 (GRCm39)	L228P	probably damaging	Het
Map2	T	C	1: 66,464,348 (GRCm39)		probably benign	Het
Med13l	T	A	5: 118,889,698 (GRCm39)	Y1820N	probably damaging	Het
Mgam	A	G	6: 40,731,869 (GRCm39)	N735S	probably benign	Het
Mid2	A	G	X: 139,664,425 (GRCm39)	Y618C	probably damaging	Het
Mllt11	G	A	3: 95,127,597 (GRCm39)	Q58*	probably null	Het
Mttp	A	G	3: 137,809,074 (GRCm39)	V678A	probably damaging	Het
Nfatc1	A	G	18: 80,741,125 (GRCm39)	S278P	probably damaging	Het
Ninj2	A	G	6: 120,175,098 (GRCm39)		probably benign	Het
Nsd3	T	A	8: 26,168,725 (GRCm39)		probably null	Het
Or5b102	A	T	19: 13,041,102 (GRCm39)	E109V	probably damaging	Het
Or8c17	T	C	9: 38,180,421 (GRCm39)	V204A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,764 (GRCm39)	N358S	probably damaging	Het
Plch1	T	C	3: 63,609,974 (GRCm39)		probably benign	Het
Popdc3	T	C	10: 45,191,354 (GRCm39)	L155P	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbm26	A	T	14: 105,414,218 (GRCm39)	I24N	unknown	Het
Rc3h2	T	A	2: 37,295,386 (GRCm39)	D210V	probably damaging	Het
Spopl	T	C	2: 23,427,533 (GRCm39)	T200A	probably benign	Het
Tarbp1	A	G	8: 127,165,540 (GRCm39)		probably null	Het
Thnsl1	T	A	2: 21,218,173 (GRCm39)	H121Q	probably damaging	Het
Tll1	T	C	8: 64,554,984 (GRCm39)	D233G	probably damaging	Het
Vmn2r27	A	T	6: 124,200,661 (GRCm39)	V432E	possibly damaging	Het
Wdr5	T	C	2: 27,409,424 (GRCm39)	S49P	probably damaging	Het
Zfyve26	A	T	12: 79,342,308 (GRCm39)	I46N	probably damaging	Het

Other mutations in Samd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Samd1	APN	8	84,726,246 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- ACAGCACAGCGTAAAAGTTACTCCG -3'
(R):5'- AGCCAAAAGGTGTCCCATCAGC -3'

Sequencing Primer
(F):5'- AGCGTAAAAGTTACTCCGTGTTG -3'
(R):5'- TTTCCTGGAGGCAAAGGCAC -3'

Posted On

2013-09-30