Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01586:Samm50'

91817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Samm50

Ensembl Gene

ENSMUSG00000022437

Gene Name

SAMM50 sorting and assembly machinery component

Synonyms

1110030L07Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL01586

Quality Score

Status

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84195838 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 39 (I39N)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023071]

Predicted Effect

probably benign
Transcript: ENSMUST00000023071
AA Change: I39N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: I39N

Domain	Start	End	E-Value	Type
low complexity region	24	35	N/A	INTRINSIC
Pfam:Bac_surface_Ag	151	468	1.8e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231124

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,515	Y144N	unknown	Het
Abca9	A	C	11: 110,154,417	C363W	probably damaging	Het
Acmsd	G	A	1: 127,759,710	R243H	probably damaging	Het
Adam33	T	C	2: 131,054,050	T490A	probably damaging	Het
Ank1	A	G	8: 23,120,912	D1411G	probably benign	Het
Arhgap39	T	C	15: 76,730,438	E842G	probably benign	Het
Asgr2	T	C	11: 70,105,367		probably benign	Het
Bbs9	T	C	9: 22,645,997	V14A	possibly damaging	Het
Cer1	A	G	4: 82,884,843	S81P	probably damaging	Het
Cln6	T	A	9: 62,844,618	H41Q	probably damaging	Het
Dock1	A	G	7: 134,753,377	D334G	probably damaging	Het
Dpy19l2	A	G	9: 24,666,975	I261T	probably benign	Het
Fhod3	T	G	18: 25,090,747	I1050S	probably damaging	Het
Gbgt1	T	C	2: 28,497,830	V22A	probably benign	Het
Izumo3	A	G	4: 92,146,295		probably null	Het
Kif11	T	C	19: 37,384,233		probably benign	Het
Krt2	C	A	15: 101,811,390	G615V	unknown	Het
Midn	A	G	10: 80,156,643		probably benign	Het
Mier1	C	T	4: 103,155,572	T342I	probably damaging	Het
Mycbp2	A	T	14: 103,140,869		probably null	Het
Nrp1	A	T	8: 128,432,032	S267C	possibly damaging	Het
Olfr145	A	G	9: 37,897,976	T191A	possibly damaging	Het
Pcdh20	A	T	14: 88,470,908	M28K	probably benign	Het
Prmt5	G	A	14: 54,509,951		probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Rps6ka5	T	C	12: 100,570,914	E519G	probably damaging	Het
Shc2	A	T	10: 79,622,304	M515K	probably damaging	Het
Sorbs2	T	A	8: 45,795,594	F608L	probably damaging	Het
Sos2	T	C	12: 69,607,398	K727E	probably damaging	Het
Sox13	A	T	1: 133,389,444	H150Q	possibly damaging	Het
Tmem132e	T	C	11: 82,434,669	V165A	probably damaging	Het
Trmt11	T	C	10: 30,597,751	T43A	probably benign	Het
Tyrp1	G	T	4: 80,844,898	V341L	probably benign	Het
Ugt2b35	C	A	5: 87,011,391	H481Q	probably benign	Het
Zzz3	T	A	3: 152,455,839	I290N	possibly damaging	Het

Other mutations in Samm50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Samm50	APN	15	84200375	missense	possibly damaging	0.82
IGL01061:Samm50	APN	15	84202254	missense	probably benign	0.00
IGL01549:Samm50	APN	15	84202781	missense	probably benign
IGL02494:Samm50	APN	15	84195814	missense	probably benign
IGL02607:Samm50	APN	15	84207838	missense	probably benign	0.09
IGL03244:Samm50	APN	15	84214140	missense	probably benign	0.09
IGL03340:Samm50	APN	15	84198663	critical splice donor site	probably null
R0591:Samm50	UTSW	15	84211168	missense	probably benign
R0634:Samm50	UTSW	15	84214171	synonymous	silent
R1780:Samm50	UTSW	15	84211127	missense	probably damaging	0.99
R2192:Samm50	UTSW	15	84200424	critical splice donor site	probably null
R2205:Samm50	UTSW	15	84202314	missense	probably benign	0.01
R3800:Samm50	UTSW	15	84192374	missense	probably damaging	0.99
R4285:Samm50	UTSW	15	84197012	missense	probably damaging	1.00
R4333:Samm50	UTSW	15	84202830	missense	probably benign	0.02
R4780:Samm50	UTSW	15	84210610	missense	possibly damaging	0.88
R5223:Samm50	UTSW	15	84200630	missense	probably benign	0.07
R5639:Samm50	UTSW	15	84214128	missense	probably benign	0.22
R6258:Samm50	UTSW	15	84200311	missense	probably damaging	1.00
R6258:Samm50	UTSW	15	84200312	missense	probably damaging	0.98
R6437:Samm50	UTSW	15	84204097	critical splice donor site	probably null
R6452:Samm50	UTSW	15	84204097	critical splice donor site	probably benign
R6715:Samm50	UTSW	15	84211058	missense	probably benign
R6957:Samm50	UTSW	15	84198649	missense	probably damaging	1.00
R7409:Samm50	UTSW	15	84197030	missense	probably benign	0.32
R7459:Samm50	UTSW	15	84195856	critical splice donor site	probably null
X0067:Samm50	UTSW	15	84202833	missense	probably benign	0.00

Posted On

2013-12-09