Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01549:Samm50'

90540

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: 0.944) question?

Stock #

IGL01549

Quality Score

Status

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84202781 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 264 (I264V)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

probably benign
Transcript: ENSMUST00000023071
AA Change: I264V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: I264V

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: 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,468,035	V259I	possibly damaging	Het
Abhd4	C	T	14: 54,267,132	T273I	probably damaging	Het
Adamtsl3	T	C	7: 82,612,448	S1691P	probably damaging	Het
Anapc1	A	G	2: 128,653,170	S901P	probably benign	Het
Ank3	C	T	10: 69,932,420	S56F	probably damaging	Het
Ccdc74a	A	G	16: 17,650,542	S343G	probably benign	Het
Clec7a	A	T	6: 129,472,677	Y3*	probably null	Het
Il6	A	G	5: 30,019,471	T170A	probably benign	Het
Itgax	C	A	7: 128,131,206		probably null	Het
Lrrc17	A	T	5: 21,570,290	R283S	probably benign	Het
Muc1	C	T	3: 89,231,810	P533S	probably damaging	Het
Olfr1084	A	C	2: 86,639,361	S116A	probably benign	Het
Olfr1084	T	C	2: 86,639,532	M59V	possibly damaging	Het
Olfr1226	C	T	2: 89,193,789	V82I	probably benign	Het
Olfr1426	T	A	19: 12,087,965	I276F	probably benign	Het
Olfr16	T	C	1: 172,956,974	Y60H	probably damaging	Het
Olfr702	T	C	7: 106,824,029	I166V	probably benign	Het
Pcnt	A	C	10: 76,367,486		probably null	Het
Pde4b	A	T	4: 102,605,068	D647V	probably damaging	Het
Phldb2	T	C	16: 45,774,318	M875V	probably benign	Het
Prkar2b	T	C	12: 32,061,072	E4G	possibly damaging	Het
Rab2a	C	A	4: 8,582,393	S125Y	probably benign	Het
Sgsh	C	T	11: 119,350,929	A90T	probably damaging	Het
Tap2	A	G	17: 34,214,329	T489A	probably benign	Het
Wdr38	T	G	2: 39,000,718	S201R	probably damaging	Het
Zfhx4	A	G	3: 5,399,462	D1560G	probably damaging	Het
Zfp462	A	G	4: 55,013,181	T568A	probably 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
IGL01586:Samm50	APN	15	84195838	missense	probably benign	0.03
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
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
X0067:Samm50	UTSW	15	84202833	missense	probably benign	0.00

Posted On

2013-12-09