Mutagenetix > Incidental Mutation

Incidental Mutation 'R5639:Samm50'

501275

Institutional Source

Beutler Lab

Gene Symbol

Samm50

Ensembl Gene

ENSMUSG00000022437

Gene Name

SAMM50 sorting and assembly machinery component

Synonyms

1110030L07Rik

MMRRC Submission

043288-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5639 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84076441-84100284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84098329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 456 (I456S)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

probably benign
Transcript: ENSMUST00000023071
AA Change: I456S

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: I456S

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,769,866 (GRCm39)	Y322H	probably benign	Het
Aldh1a1	C	A	19: 20,600,786 (GRCm39)	T201K	probably damaging	Het
Ankrd26	T	C	6: 118,516,685 (GRCm39)	E493G	possibly damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Bicc1	A	T	10: 70,776,350 (GRCm39)	V701E	probably damaging	Het
Car11	T	A	7: 45,352,045 (GRCm39)		probably null	Het
Ccn1	A	C	3: 145,354,452 (GRCm39)	V153G	probably damaging	Het
Celsr1	C	G	15: 85,914,968 (GRCm39)	V1002L	probably damaging	Het
Clpx	T	A	9: 65,237,112 (GRCm39)	S597T	probably benign	Het
Cplx3	A	T	9: 57,519,149 (GRCm39)	F266I	probably benign	Het
Dmpk	A	G	7: 18,826,525 (GRCm39)	M545V	probably benign	Het
Dnah7c	C	G	1: 46,778,828 (GRCm39)	D3139E	probably benign	Het
Drd5	T	A	5: 38,477,178 (GRCm39)	V57D	possibly damaging	Het
Epc2	A	G	2: 49,341,903 (GRCm39)	N29S	possibly damaging	Het
Ercc3	T	C	18: 32,398,767 (GRCm39)	V682A	probably damaging	Het
Fam186a	T	C	15: 99,844,931 (GRCm39)	K438E	unknown	Het
Farp1	T	A	14: 121,512,794 (GRCm39)	I764N	probably damaging	Het
Flvcr2	A	T	12: 85,794,250 (GRCm39)	I209F	probably benign	Het
Fndc3b	C	T	3: 27,480,302 (GRCm39)	V1065M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gp6	C	A	7: 4,397,130 (GRCm39)	D102Y	probably damaging	Het
Gpc5	T	C	14: 115,330,179 (GRCm39)	L114P	probably benign	Het
Kcnq3	T	A	15: 65,869,599 (GRCm39)	E613V	probably damaging	Het
Krt74	T	G	15: 101,665,195 (GRCm39)		noncoding transcript	Het
Lipe	T	C	7: 25,082,750 (GRCm39)	T801A	probably benign	Het
Lrp1	A	G	10: 127,429,708 (GRCm39)	V454A	probably damaging	Het
Lsm14a	T	C	7: 34,052,935 (GRCm39)	D338G	probably damaging	Het
Mctp1	T	C	13: 77,172,902 (GRCm39)		silent	Het
Nlrp4a	G	A	7: 26,156,455 (GRCm39)	A727T	probably benign	Het
Nrgn	T	C	9: 37,457,344 (GRCm39)	S48G	probably benign	Het
Oga	A	G	19: 45,765,438 (GRCm39)	I123T	probably damaging	Het
Or10k2	T	C	8: 84,267,973 (GRCm39)	S67P	probably damaging	Het
Or4a73	T	C	2: 89,421,069 (GRCm39)	Y130C	probably damaging	Het
Or51f23	A	G	7: 102,453,200 (GRCm39)	S172G	probably benign	Het
Pdia6	A	G	12: 17,328,594 (GRCm39)	E183G	probably benign	Het
Pign	T	A	1: 105,517,040 (GRCm39)	I529F	probably benign	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Sesn1	A	G	10: 41,687,267 (GRCm39)	R84G	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Spag17	G	T	3: 99,963,482 (GRCm39)	D1067Y	probably damaging	Het
Sptan1	C	T	2: 29,881,005 (GRCm39)	Q425*	probably null	Het
Srrm4	T	A	5: 116,729,418 (GRCm39)	I36F	unknown	Het
Tas1r2	A	T	4: 139,387,107 (GRCm39)	S189C	probably damaging	Het
Tep1	A	G	14: 51,091,062 (GRCm39)	V690A	possibly damaging	Het
Trmo	T	C	4: 46,382,073 (GRCm39)	K348R	probably benign	Het
Trmu	T	A	15: 85,766,899 (GRCm39)	M36K	probably damaging	Het
Ubr4	A	G	4: 139,179,959 (GRCm39)	T3380A	possibly damaging	Het
Unc79	A	C	12: 103,137,831 (GRCm39)	T2425P	probably damaging	Het
Vmn2r12	G	A	5: 109,240,666 (GRCm39)	T149I	probably benign	Het
Vwa3a	A	C	7: 120,389,366 (GRCm39)	K68T	probably damaging	Het
Yif1a	T	C	19: 5,138,778 (GRCm39)		probably null	Het
Zbtb44	A	T	9: 30,965,348 (GRCm39)	T253S	probably damaging	Het
Zdhhc3	T	C	9: 122,929,410 (GRCm39)	Y75C	probably damaging	Het
Zfp189	T	A	4: 49,530,153 (GRCm39)	F419I	probably benign	Het
Zfp663	T	C	2: 165,194,929 (GRCm39)	D430G	probably benign	Het
Zfp709	T	G	8: 72,643,835 (GRCm39)		probably null	Het

Other mutations in Samm50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00675:Samm50	APN	15	84,084,576 (GRCm39)	missense	possibly damaging	0.82
IGL01061:Samm50	APN	15	84,086,455 (GRCm39)	missense	probably benign	0.00
IGL01549:Samm50	APN	15	84,086,982 (GRCm39)	missense	probably benign
IGL01586:Samm50	APN	15	84,080,039 (GRCm39)	missense	probably benign	0.03
IGL02494:Samm50	APN	15	84,080,015 (GRCm39)	missense	probably benign
IGL02607:Samm50	APN	15	84,092,039 (GRCm39)	missense	probably benign	0.09
IGL03244:Samm50	APN	15	84,098,341 (GRCm39)	missense	probably benign	0.09
IGL03340:Samm50	APN	15	84,082,864 (GRCm39)	critical splice donor site	probably null
R0591:Samm50	UTSW	15	84,095,369 (GRCm39)	missense	probably benign
R0634:Samm50	UTSW	15	84,098,372 (GRCm39)	synonymous	silent
R1780:Samm50	UTSW	15	84,095,328 (GRCm39)	missense	probably damaging	0.99
R2192:Samm50	UTSW	15	84,084,625 (GRCm39)	critical splice donor site	probably null
R2205:Samm50	UTSW	15	84,086,515 (GRCm39)	missense	probably benign	0.01
R3800:Samm50	UTSW	15	84,076,575 (GRCm39)	missense	probably damaging	0.99
R4285:Samm50	UTSW	15	84,081,213 (GRCm39)	missense	probably damaging	1.00
R4333:Samm50	UTSW	15	84,087,031 (GRCm39)	missense	probably benign	0.02
R4780:Samm50	UTSW	15	84,094,811 (GRCm39)	missense	possibly damaging	0.88
R5223:Samm50	UTSW	15	84,084,831 (GRCm39)	missense	probably benign	0.07
R6258:Samm50	UTSW	15	84,084,513 (GRCm39)	missense	probably damaging	0.98
R6258:Samm50	UTSW	15	84,084,512 (GRCm39)	missense	probably damaging	1.00
R6437:Samm50	UTSW	15	84,088,298 (GRCm39)	critical splice donor site	probably null
R6452:Samm50	UTSW	15	84,088,298 (GRCm39)	critical splice donor site	probably benign
R6715:Samm50	UTSW	15	84,095,259 (GRCm39)	missense	probably benign
R6957:Samm50	UTSW	15	84,082,850 (GRCm39)	missense	probably damaging	1.00
R7409:Samm50	UTSW	15	84,081,231 (GRCm39)	missense	probably benign	0.32
R7459:Samm50	UTSW	15	84,080,057 (GRCm39)	critical splice donor site	probably null
R7706:Samm50	UTSW	15	84,085,081 (GRCm39)	splice site	probably null
R7910:Samm50	UTSW	15	84,098,346 (GRCm39)	missense	possibly damaging	0.49
R8421:Samm50	UTSW	15	84,094,786 (GRCm39)	missense	probably benign	0.04
R8443:Samm50	UTSW	15	84,094,702 (GRCm39)	missense	possibly damaging	0.82
R9339:Samm50	UTSW	15	84,095,276 (GRCm39)	missense	probably benign	0.00
R9457:Samm50	UTSW	15	84,092,042 (GRCm39)	missense	probably damaging	1.00
X0067:Samm50	UTSW	15	84,087,034 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGAGCAACAGAGGGTCTTG -3'
(R):5'- GCATGTGTCCATAAAGACGC -3'

Sequencing Primer
(F):5'- CAACAGAGGGTCTTGGGCTCTATTC -3'
(R):5'- GTCCATAAAGACGCATGGCCTG -3'

Posted On

2017-12-01