Mutagenetix > Incidental Mutations

Incidental Mutation 'R8421:Samm50'

653220

Institutional Source

Beutler Lab

Gene Symbol

Samm50

Ensembl Gene

ENSMUSG00000022437

Gene Name

SAMM50 sorting and assembly machinery component

Synonyms

1110030L07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R8421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84210585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 393 (T393A)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

probably benign
Transcript: ENSMUST00000023071
AA Change: T393A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: T393A

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

Meta Mutation Damage Score

0.1072

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	A	2: 111,218,610	K275*	probably null	Het
Acin1	T	C	14: 54,643,029	E1239G	unknown	Het
Actn3	T	C	19: 4,861,713	M806V	probably benign	Het
Adcy7	A	G	8: 88,322,184	T676A	probably benign	Het
Ankef1	C	A	2: 136,537,165	Q12K	probably damaging	Het
Ankrd40	G	T	11: 94,334,836	G231V	probably damaging	Het
Atad5	T	A	11: 80,094,558	V157D	probably damaging	Het
Atp6v1b1	T	A	6: 83,753,809	M163K	probably damaging	Het
Atp7b	A	T	8: 22,028,471	M117K	probably benign	Het
Ccdc87	T	C	19: 4,841,285	Y602H	possibly damaging	Het
Cdh16	C	T	8: 104,621,970	R142K	probably benign	Het
Chrnb3	G	A	8: 27,396,690	V431I	probably damaging	Het
Csf1r	A	G	18: 61,127,894	D719G	probably damaging	Het
Ctsll3	A	G	13: 60,800,781	F88S	probably damaging	Het
Dglucy	A	G	12: 100,842,679	Y212C	probably damaging	Het
Dnase1l3	T	C	14: 7,968,122	D261G	possibly damaging	Het
Dync2h1	T	C	9: 7,102,477	D2641G	probably damaging	Het
E330021D16Rik	T	C	6: 136,401,352	E160G	probably damaging	Het
Fat3	A	T	9: 15,998,184	V2174D	probably damaging	Het
Gtf3c1	A	G	7: 125,698,970	L244P	probably damaging	Het
Hcn4	T	A	9: 58,858,096	D620E	unknown	Het
Ide	A	G	19: 37,278,004	V800A		Het
Ikbkb	A	T	8: 22,678,788		probably null	Het
Lin9	T	A	1: 180,665,800	F197Y	probably damaging	Het
Lrp1b	T	A	2: 40,725,423	Y3656F		Het
Mapkbp1	C	A	2: 120,018,950	N708K	probably damaging	Het
Marveld3	A	G	8: 109,948,647	M179T	probably benign	Het
Mrpl1	C	G	5: 96,226,367	A167G	probably benign	Het
Mrpl35	T	C	6: 71,816,167	K167E	probably damaging	Het
Myo3a	T	C	2: 22,362,124	V594A	probably benign	Het
Nav2	A	G	7: 49,452,521	T356A	probably benign	Het
Nup210l	A	G	3: 90,203,867	Y1692C	probably damaging	Het
Olfr1054	T	A	2: 86,332,903	Y151F	possibly damaging	Het
Otoa	G	A	7: 121,099,268		probably null	Het
Oxnad1	T	G	14: 32,099,474	I172S	probably benign	Het
Padi4	C	A	4: 140,748,222	C544F	probably damaging	Het
Pard3	A	C	8: 127,140,408		probably benign	Het
Plvap	G	A	8: 71,511,532	T62M	probably damaging	Het
Prdm8	C	T	5: 98,185,963	A463V	probably damaging	Het
Prss21	T	A	17: 23,869,368	D102E	possibly damaging	Het
Psmb10	G	T	8: 105,936,710	Q182K	probably benign	Het
Rasgrf1	C	T	9: 89,967,915	P319S	probably damaging	Het
Rock1	G	A	18: 10,072,863	Q1161*	probably null	Het
Ryr3	T	C	2: 112,996,584	E112G	probably benign	Het
Slc9c1	A	G	16: 45,593,371	E954G	probably damaging	Het
Sulf2	T	A	2: 166,117,052	I79F	probably benign	Het
Tbx21	T	C	11: 97,114,735	K135E	probably benign	Het
Unc13b	A	G	4: 43,178,304	E3044G	unknown	Het
Usf3	A	T	16: 44,217,209	Q684L	possibly damaging	Het
Vmn1r114	A	T	7: 20,811,534	M218K	possibly damaging	Het
Vmn1r203	T	G	13: 22,524,984	*312G	probably null	Het
Vmn2r67	A	C	7: 85,136,685	L704R	probably damaging	Het
Zfp618	A	G	4: 63,133,246	T755A	probably damaging	Het
Zp3	A	G	5: 135,988,477	T381A	probably benign	Het
Zscan20	T	C	4: 128,585,827	D957G	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- CATCATGGAAGGATCCTGTAAAGG -3'
(R):5'- TGTGAGCATCCTCTGGACAG -3'

Sequencing Primer
(F):5'- TCCTGTAAAGGAGAGAGGCTG -3'
(R):5'- GACAGAGCTGTGCTGAGC -3'

Posted On

2020-10-20