Mutagenetix > Incidental Mutation

Incidental Mutation 'R7409:Samm50'

574956

Institutional Source

Beutler Lab

Gene Symbol

Samm50

Ensembl Gene

ENSMUSG00000022437

Gene Name

SAMM50 sorting and assembly machinery component

Synonyms

1110030L07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R7409 (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 84197030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

probably benign
Transcript: ENSMUST00000023071
AA Change: D53G

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: D53G

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610301B20Rik	T	A	4: 10,881,834	C94S	probably benign	Het
2610507B11Rik	G	T	11: 78,268,757	R544L	probably damaging	Het
Adgrb2	C	T	4: 130,019,069	A1329V	probably benign	Het
Aida	A	G	1: 183,318,874	T215A	probably benign	Het
Alpk2	A	G	18: 65,306,952	S457P	probably benign	Het
Ap4b1	G	A	3: 103,812,158	V63I	probably damaging	Het
Apaf1	A	G	10: 91,067,246	V182A	probably damaging	Het
B4galnt4	G	A	7: 141,067,003		probably null	Het
Cacna1a	T	G	8: 84,533,402	D331E	probably damaging	Het
Carmil2	A	G	8: 105,692,791		probably null	Het
Cdkn1b	A	T	6: 134,921,317	Q133L	probably benign	Het
Cep192	G	C	18: 67,834,803	S786T	possibly damaging	Het
Cfap97	G	A	8: 46,192,696	R537H	probably benign	Het
Clpx	C	G	9: 65,324,247	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,286,385	T240I	probably damaging	Het
Ddx60	C	A	8: 61,958,578	T488K	probably benign	Het
Dennd4b	A	G	3: 90,273,952	H805R	probably benign	Het
Dnmbp	T	C	19: 43,890,557	D25G	unknown	Het
Dysf	A	C	6: 84,149,682	D1293A	probably benign	Het
Efl1	T	C	7: 82,697,913	L549P	probably damaging	Het
Eif5	T	C	12: 111,540,263		probably benign	Het
Eva1c	A	G	16: 90,869,656	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,876,780	V814G	possibly damaging	Het
Gfap	C	T	11: 102,894,532	R206Q	probably benign	Het
Gjb6	A	T	14: 57,124,153	L217*	probably null	Het
Gpatch11	T	A	17: 78,839,166	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,327,431	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,833,346	S173P	possibly damaging	Het
Hars	C	G	18: 36,770,113	R388P	probably damaging	Het
Ighm	C	T	12: 113,422,232	R129H		Het
Igsf9	A	G	1: 172,495,274	I602V	probably benign	Het
Inpp4b	T	G	8: 81,952,685		probably null	Het
Itch	C	A	2: 155,199,382	T450K	probably damaging	Het
Kcnq1	T	C	7: 143,109,415	F20L	unknown	Het
Kmt2d	G	T	15: 98,855,354	A153E	probably damaging	Het
Macf1	T	A	4: 123,504,470	N750I	probably damaging	Het
Marveld2	T	A	13: 100,611,476	H365L	probably damaging	Het
Med13l	T	A	5: 118,754,321	D1936E	probably benign	Het
Mettl8	A	T	2: 70,973,343	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,585,342	S157A	possibly damaging	Het
Mrps35	A	G	6: 147,055,983	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,288,744	Y551N	probably damaging	Het
Myo18b	T	C	5: 112,874,105	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,122,808	T539A	probably benign	Het
Oca2	T	A	7: 56,414,397	D713E	probably benign	Het
Olfr433	T	A	1: 174,042,533	H194Q	probably benign	Het
Olfr60	C	T	7: 140,345,405	V195I	probably benign	Het
Olfr768	A	G	10: 129,093,212	I254T	probably damaging	Het
Olfr816	A	T	10: 129,912,251	V9D	possibly damaging	Het
Omt2b	A	C	9: 78,328,612	Y73S	probably benign	Het
Pde11a	G	T	2: 76,005,984	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Phrf1	C	A	7: 141,259,292	T800K	unknown	Het
Pramel4	T	C	4: 144,068,491	S486P	probably benign	Het
Proc	T	C	18: 32,127,460	D204G	probably benign	Het
Rasgrp3	T	A	17: 75,516,416	I494N	possibly damaging	Het
Satb1	T	C	17: 51,809,189	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,807,054	S658P	probably damaging	Het
Sfta2	T	A	17: 35,614,518	I29K	unknown	Het
Slc15a4	A	T	5: 127,604,678	S292T	probably benign	Het
Slc37a1	C	T	17: 31,340,263	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,530,805	P294Q	probably damaging	Het
Slc52a3	T	C	2: 152,004,166	S16P	probably damaging	Het
Slc6a15	A	G	10: 103,408,302	I468V	probably benign	Het
Spag17	T	C	3: 100,027,231	S610P	possibly damaging	Het
Spag17	A	T	3: 100,034,159	D738V	probably benign	Het
Ssbp4	T	C	8: 70,597,967	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,203,190	T406A	possibly damaging	Het
Tep1	A	T	14: 50,866,855	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,773,259	C343*	probably null	Het
Tmed10	A	T	12: 85,344,291	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,048,590	V38E	probably damaging	Het
Ttc6	T	C	12: 57,696,986	M1258T	probably damaging	Het
Ttn	T	C	2: 76,758,976	D21281G	probably damaging	Het
Twistnb	T	G	12: 33,436,989	C150W	possibly damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,808,583	E58*	probably null	Het
Vps13d	C	T	4: 145,141,254	E2009K		Het
Vps33b	T	C	7: 80,285,269	I320T	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Ythdf1	T	C	2: 180,911,993	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,559,629		probably null	Het
Zfp219	A	T	14: 52,007,113	Y536*	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGTACATACTTGGCAAAAGC -3'
(R):5'- TATGTAAGCTCTGGGAGGCG -3'

Sequencing Primer
(F):5'- TTTCCAGAGGACTTGGATACCAGC -3'
(R):5'- GCTCTGCAGTGAGAGGCTG -3'

Posted On

2019-10-07