Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02607:Samm50'

300319

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: 0.949) question?

Stock #

IGL02607

Quality Score

Status

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84207838 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 338 (Y338F)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

probably benign
Transcript: ENSMUST00000023071
AA Change: Y338F

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: Y338F

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: ENSMUST00000229751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230830

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	G	A	16: 90,929,947	T98M	probably damaging	Het
Abca17	C	T	17: 24,327,705	W307*	probably null	Het
Cit	A	G	5: 115,859,209	I84V	probably benign	Het
Cltc	T	C	11: 86,706,714	D1132G	probably benign	Het
Cobll1	A	T	2: 65,151,085	S54T	probably damaging	Het
Dcstamp	A	G	15: 39,754,584	R130G	possibly damaging	Het
Dennd4a	A	G	9: 64,862,327	M439V	probably damaging	Het
Dnajc15	T	A	14: 77,840,216	I110F	probably damaging	Het
Dock1	T	C	7: 134,851,513	F824L	probably benign	Het
Eml2	A	G	7: 19,206,111	H617R	probably damaging	Het
Fgd6	A	T	10: 94,044,448	Q388L	possibly damaging	Het
Fkbp4	A	T	6: 128,434,470		probably benign	Het
Fmnl3	A	T	15: 99,324,772	L431Q	probably damaging	Het
Gng8	T	C	7: 16,894,934		probably benign	Het
Hmcn1	T	A	1: 150,744,995	I1155F	possibly damaging	Het
Muc4	G	T	16: 32,775,819	C3135F	possibly damaging	Het
Mycbp2	C	T	14: 103,285,273	G685D	probably damaging	Het
Olfr1389	T	C	11: 49,430,512	F12S	probably damaging	Het
Pcdhb8	A	T	18: 37,357,581	I771F	probably benign	Het
Pkn2	A	G	3: 142,794,101		probably null	Het
Rrn3	G	T	16: 13,806,563	V420L	possibly damaging	Het
Slc2a7	C	T	4: 150,154,705	T129I	probably benign	Het
Tbc1d8	T	C	1: 39,379,511	I806V	probably benign	Het
Tex2	T	C	11: 106,546,747	E699G	unknown	Het
Vmn2r85	T	C	10: 130,426,421	K150E	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
IGL01586:Samm50	APN	15	84195838	missense	probably benign	0.03
IGL02494:Samm50	APN	15	84195814	missense	probably benign
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
R7706:Samm50	UTSW	15	84200880	splice site	probably null
R7910:Samm50	UTSW	15	84214145	missense	possibly damaging	0.49
R8421:Samm50	UTSW	15	84210585	missense	probably benign	0.04
R8443:Samm50	UTSW	15	84210501	missense	possibly damaging	0.82
R9339:Samm50	UTSW	15	84211075	missense	probably benign	0.00
R9457:Samm50	UTSW	15	84207841	missense	probably damaging	1.00
X0067:Samm50	UTSW	15	84202833	missense	probably benign	0.00

Posted On

2015-04-16