Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03340:Samm50'

417210

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: 0.954) question?

Stock #

IGL03340

Quality Score

Status

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 84198663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

probably null
Transcript: ENSMUST00000023071

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,080,001	L26P	probably benign	Het
Aff1	A	T	5: 103,783,804	H104L	possibly damaging	Het
Apon	T	C	10: 128,254,978	I175T	probably benign	Het
C2cd6	A	C	1: 59,076,671	F168V	probably benign	Het
Cgn	C	T	3: 94,778,095		probably benign	Het
Cramp1l	G	A	17: 24,973,542	P956L	probably damaging	Het
Cyp2e1	G	A	7: 140,764,854	V78M	probably damaging	Het
Cyp4b1	G	A	4: 115,641,879	P97S	probably damaging	Het
Fads2	G	T	19: 10,091,772	P96Q	possibly damaging	Het
Fam160a2	A	G	7: 105,389,310	S241P	probably damaging	Het
Fcer2a	T	C	8: 3,688,310	D120G	possibly damaging	Het
Gm21972	G	T	1: 86,133,728	A887S	probably damaging	Het
Grk6	A	G	13: 55,453,190	D295G	probably damaging	Het
Herc2	T	A	7: 56,090,920	V270D	possibly damaging	Het
Kcnk2	T	A	1: 189,295,681	I126F	possibly damaging	Het
Kifap3	T	G	1: 163,829,149	V346G	possibly damaging	Het
Kpna1	T	A	16: 36,000,246	N20K	probably damaging	Het
Krt33b	A	G	11: 100,025,472		probably benign	Het
Krtap9-5	T	C	11: 99,948,601	C43R	possibly damaging	Het
Lars	G	A	18: 42,228,650		probably benign	Het
Lifr	T	C	15: 7,177,936	W540R	probably benign	Het
Lrp1b	A	G	2: 41,468,969	S631P	probably damaging	Het
Mbd1	G	T	18: 74,274,482	R111L	probably benign	Het
Meltf	C	T	16: 31,892,784	T576M	probably damaging	Het
Mmp20	G	A	9: 7,643,994	G228S	probably damaging	Het
Mob4	A	G	1: 55,136,708	D37G	possibly damaging	Het
Msr1	T	C	8: 39,620,007	K234E	possibly damaging	Het
Myof	A	G	19: 37,911,159	V1764A	probably damaging	Het
Naaladl1	A	G	19: 6,106,199	Y105C	possibly damaging	Het
Nisch	A	G	14: 31,173,144	V1065A	probably damaging	Het
Npas4	A	T	19: 4,985,066		probably benign	Het
Olfr1232	T	C	2: 89,325,695	T162A	possibly damaging	Het
Pdss2	A	G	10: 43,394,001	D280G	probably benign	Het
Plk3	A	G	4: 117,132,928	I182T	probably damaging	Het
Ppm1k	A	G	6: 57,510,726	W371R	probably damaging	Het
Scaper	G	T	9: 55,602,832	T640K	possibly damaging	Het
Sun3	A	C	11: 9,023,285		probably benign	Het
Svep1	T	A	4: 58,111,451	K1056M	possibly damaging	Het
Tgs1	C	A	4: 3,604,813	P745Q	probably benign	Het
Tomm20l	A	T	12: 71,117,614		probably benign	Het
Usp38	A	C	8: 81,012,276	L237V	probably damaging	Het
Vmn1r210	T	C	13: 22,827,474	Y214C	probably benign	Het
Zan	G	A	5: 137,427,874	P2547S	unknown	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
IGL02607:Samm50	APN	15	84207838	missense	probably benign	0.09
IGL03244:Samm50	APN	15	84214140	missense	probably benign	0.09
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

2016-08-02