Mutagenetix > Incidental Mutation

Incidental Mutation 'R5261:Samd1'

401441

Institutional Source

Beutler Lab

Gene Symbol

Samd1

Ensembl Gene

ENSMUSG00000079003

Gene Name

sterile alpha motif domain containing 1

Synonyms

MMRRC Submission

042830-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R5261 (G1)

Quality Score

150

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: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

96% (64/67)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	C	G	2: 152,282,777 (GRCm39)	P211A	probably damaging	Het
Ambra1	G	A	2: 91,715,951 (GRCm39)	V761M	probably damaging	Het
Amfr	T	A	8: 94,702,798 (GRCm39)		probably null	Het
Asphd1	C	A	7: 126,545,287 (GRCm39)	A357S	probably benign	Het
Brd3	C	A	2: 27,353,931 (GRCm39)	Q60H	probably damaging	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cep152	T	A	2: 125,406,125 (GRCm39)	H1469L	probably benign	Het
Coro1a	G	T	7: 126,299,816 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,171,555 (GRCm39)	L871Q	probably benign	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Enpep	T	G	3: 129,099,075 (GRCm39)	D467A	probably damaging	Het
Extl2	G	A	3: 115,821,013 (GRCm39)	A273T	probably benign	Het
Foxi3	T	A	6: 70,937,500 (GRCm39)	F218Y	probably damaging	Het
Golga2	A	G	2: 32,194,166 (GRCm39)	M521V	probably benign	Het
Gpr142	T	A	11: 114,695,168 (GRCm39)	N44K	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,061 (GRCm39)	I440V	probably benign	Het
Gucy1b2	T	A	14: 62,642,028 (GRCm39)	K698I	probably damaging	Het
Hspa1b	T	C	17: 35,177,983 (GRCm39)	M1V	probably null	Het
Ints9	T	A	14: 65,245,521 (GRCm39)	Y260N	probably benign	Het
Khdc3	T	G	9: 73,010,768 (GRCm39)	V182G	possibly damaging	Het
Ky	A	G	9: 102,414,798 (GRCm39)		probably null	Het
Map2k1	T	A	9: 64,098,843 (GRCm39)	I263F	probably damaging	Het
Or13a18	A	C	7: 140,190,576 (GRCm39)	I166L	probably benign	Het
Or2t47	T	C	11: 58,442,877 (GRCm39)	S63G	probably benign	Het
Or5ak25	A	G	2: 85,269,241 (GRCm39)	V87A	probably benign	Het
Otogl	T	A	10: 107,613,453 (GRCm39)	H2004L	probably benign	Het
Palmd	T	C	3: 116,717,009 (GRCm39)	H496R	probably benign	Het
Papolb	C	G	5: 142,515,409 (GRCm39)	R78P	possibly damaging	Het
Pcdh10	G	A	3: 45,336,247 (GRCm39)	G854R	probably damaging	Het
Pdcd11	A	G	19: 47,101,976 (GRCm39)	I1054V	probably benign	Het
Pik3ap1	A	T	19: 41,364,545 (GRCm39)	L58Q	probably damaging	Het
Ppp2ca	A	G	11: 51,989,937 (GRCm39)	K21R	probably benign	Het
Prmt5	A	C	14: 54,745,373 (GRCm39)	I598S	probably damaging	Het
Pycr1	T	A	11: 120,532,050 (GRCm39)	I239F	probably damaging	Het
R3hdm2	C	T	10: 127,334,285 (GRCm39)	R896C	probably damaging	Het
Rev3l	C	T	10: 39,722,725 (GRCm39)	P699S	probably damaging	Het
Sel1l	A	T	12: 91,791,658 (GRCm39)	M351K	possibly damaging	Het
Sesn2	A	G	4: 132,226,617 (GRCm39)	L159P	probably damaging	Het
Slc35f4	T	A	14: 49,540,946 (GRCm39)		probably benign	Het
Slc3a1	C	A	17: 85,359,403 (GRCm39)	N409K	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slco1c1	T	C	6: 141,492,502 (GRCm39)	F246S	probably damaging	Het
Socs2	T	G	10: 95,228,681 (GRCm39)	I190L	unknown	Het
Srsf1	T	A	11: 87,938,684 (GRCm39)	I7N	possibly damaging	Het
Stox1	T	A	10: 62,503,620 (GRCm39)	H145L	probably damaging	Het
Trap1	A	T	16: 3,874,286 (GRCm39)	I243N	probably damaging	Het
Trav7-3	T	C	14: 53,681,207 (GRCm39)	I83T	probably benign	Het
Trmt9b	T	C	8: 36,979,078 (GRCm39)	I227T	probably benign	Het
Tuft1	A	T	3: 94,546,712 (GRCm39)	I42K	possibly damaging	Het
Umps	A	G	16: 33,787,344 (GRCm39)	V3A	probably benign	Het
Vim	A	C	2: 13,579,643 (GRCm39)	E134A	probably null	Het
Vmn1r28	C	A	6: 58,242,524 (GRCm39)	H122Q	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vsig10l	T	A	7: 43,120,274 (GRCm39)	V760D	probably damaging	Het
Xrn1	A	G	9: 95,927,596 (GRCm39)	D1460G	probably benign	Het
Zfp282	A	G	6: 47,874,824 (GRCm39)	D343G	probably damaging	Het
Zfp35	A	G	18: 24,136,778 (GRCm39)	H374R	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
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
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'- CGACAGCACAGCGTAAAAGT -3'
(R):5'- CTTTATTCACAGCTGTCATCGGG -3'

Sequencing Primer
(F):5'- CAGCGTAAAAGTTACTCCGTG -3'
(R):5'- AGCTGTCATCGGGAACACCTG -3'

Posted On

2016-07-06