Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03244:Samm50'

414352

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: 0.966) question?

Stock #

IGL03244

Quality Score

Status

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84214140 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 460 (V460A)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023071
AA Change: V460A

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

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: V460A

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	C	A	3: 126,955,870	E503D	probably damaging	Het
Aoc1	T	C	6: 48,905,822	Y233H	possibly damaging	Het
Apaf1	A	T	10: 91,049,349		probably benign	Het
Asah2	T	C	19: 31,986,942	Y696C	probably damaging	Het
Atp8b3	A	T	10: 80,534,458	D112E	probably damaging	Het
B3gat3	T	C	19: 8,925,851	Y191H	probably damaging	Het
Capns2	T	C	8: 92,902,110	I209T	probably damaging	Het
Ccnl2	T	C	4: 155,821,022	I303T	probably benign	Het
Cdk5rap2	A	T	4: 70,281,435	S817R	probably benign	Het
Cep57	A	T	9: 13,818,387	L36*	probably null	Het
Cers4	T	A	8: 4,516,878	V60E	probably damaging	Het
Ces2e	T	C	8: 104,928,819	Y125H	probably benign	Het
Cyp4f18	T	C	8: 71,988,645	E497G	probably benign	Het
Ddx24	A	T	12: 103,417,605	M575K	possibly damaging	Het
Dmxl2	A	T	9: 54,416,371	V1243E	probably damaging	Het
Elf2	A	T	3: 51,257,772	Y270*	probably null	Het
Ep400	A	G	5: 110,727,563	L844S	unknown	Het
F13a1	A	T	13: 36,988,896	I170N	possibly damaging	Het
Gm16506	T	A	14: 43,724,146		probably benign	Het
Grm4	A	G	17: 27,434,823	F463L	probably damaging	Het
H2-M10.2	A	T	17: 36,285,571	N127K	probably benign	Het
Lrrc49	T	C	9: 60,587,857	Y691C	probably damaging	Het
Mbip	A	C	12: 56,337,762		probably null	Het
Olfr825	T	A	10: 130,162,400	K309*	probably null	Het
Plod1	C	T	4: 147,923,123		probably null	Het
Primpol	A	G	8: 46,586,440	W382R	probably damaging	Het
Rufy2	A	G	10: 63,004,704	E418G	probably benign	Het
Senp2	T	C	16: 22,040,579	V460A	probably damaging	Het
Simc1	A	G	13: 54,550,629	H453R	probably benign	Het
Slc22a22	A	G	15: 57,249,552		probably benign	Het
Spag1	A	T	15: 36,234,383	D763V	probably benign	Het
Thsd7a	T	A	6: 12,504,168		probably benign	Het
Tppp	G	T	13: 74,021,416	V92F	possibly damaging	Het
Vmn1r32	G	A	6: 66,553,505	L96F	probably damaging	Het
Vmn2r53	C	A	7: 12,606,508	A13S	probably damaging	Het
Vmn2r75	G	A	7: 86,171,725		probably benign	Het
Zfp750	C	A	11: 121,513,687	G121*	probably null	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
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
R7910:Samm50	UTSW	15	84214145	missense	possibly damaging	0.49
R7991:Samm50	UTSW	15	84214145	missense	possibly damaging	0.49
X0067:Samm50	UTSW	15	84202833	missense	probably benign	0.00

Posted On

2016-08-02