Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Samd1'

404199

Institutional Source

Beutler Lab

Gene Symbol

Samd1

Ensembl Gene

ENSMUSG00000079003

Gene Name

sterile alpha motif domain containing 1

Synonyms

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84724145-84727044 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84726346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 468 (E468K)

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: E468K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092853
Gene: ENSMUSG00000079003
AA Change: E468K

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: E217K

Predicted Effect

probably benign
Transcript: ENSMUST00000211558

Meta Mutation Damage Score

0.3375

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Myh7b	G	A	2: 155,465,186 (GRCm39)	V681I	probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly 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
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'- AGTGGACAGTCATGGATGTG -3'
(R):5'- GGAAGGTTGAGTGTACCCATGC -3'

Sequencing Primer
(F):5'- GGTGGAATACTTCACTGAGGC -3'
(R):5'- TTGAGTGTACCCATGCCCAGC -3'

Posted On

2016-07-22