Mutagenetix > Incidental Mutation

Incidental Mutation 'R7706:Samm50'

628488

Institutional Source

Beutler Lab

Gene Symbol

Samm50

Ensembl Gene

ENSMUSG00000022437

Gene Name

SAMM50 sorting and assembly machinery component

Synonyms

1110030L07Rik

MMRRC Submission

045767-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7706 (G1)

Quality Score

198.009

Status

Validated

Chromosome

Chromosomal Location

84076441-84100284 bp(+) (GRCm39)

Type of Mutation

splice site (163 bp from exon)

DNA Base Change (assembly)

T to A at 84085081 bp (GRCm39)

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (52/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	G	A	17: 46,044,583 (GRCm39)	T46I	unknown	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Atxn7l2	T	C	3: 108,114,719 (GRCm39)	D109G	probably damaging	Het
B4galnt3	C	A	6: 120,195,913 (GRCm39)	V305L	probably benign	Het
C9	T	A	15: 6,488,402 (GRCm39)	N85K	probably benign	Het
Cacna1g	T	C	11: 94,305,867 (GRCm39)	I1941V	probably benign	Het
Capn15	A	G	17: 26,183,125 (GRCm39)	V518A	probably benign	Het
Chst10	A	T	1: 38,905,106 (GRCm39)	Y200N	probably damaging	Het
Ciao3	T	C	17: 26,001,226 (GRCm39)	*493Q	probably null	Het
Cir1	A	G	2: 73,142,823 (GRCm39)	S4P	probably damaging	Het
Cish	G	A	9: 107,177,840 (GRCm39)	R172Q	probably benign	Het
Cnot10	A	T	9: 114,422,506 (GRCm39)	N693K	probably damaging	Het
Ddx6	A	G	9: 44,538,939 (GRCm39)	D249G	probably damaging	Het
Dennd6b	T	C	15: 89,069,447 (GRCm39)	D528G	probably benign	Het
Dmtf1	T	A	5: 9,174,489 (GRCm39)	T484S	possibly damaging	Het
Dnaaf5	T	C	5: 139,138,596 (GRCm39)	V259A	probably damaging	Het
Dzip1l	A	T	9: 99,519,589 (GRCm39)	S39C	probably damaging	Het
Efcab8	T	A	2: 153,623,695 (GRCm39)	M60K		Het
Eml2	T	A	7: 18,920,035 (GRCm39)	V113D	possibly damaging	Het
Fnip1	A	T	11: 54,406,325 (GRCm39)	I1141F	probably benign	Het
Gm7298	T	A	6: 121,712,570 (GRCm39)	S127R	probably damaging	Het
Hcn2	G	A	10: 79,570,017 (GRCm39)	R622Q	possibly damaging	Het
Ift172	C	T	5: 31,423,723 (GRCm39)	W746*	probably null	Het
Irs1	A	G	1: 82,265,412 (GRCm39)	Y935H	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Klhl20	T	C	1: 160,936,827 (GRCm39)	I183V	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lalba	T	C	15: 98,379,474 (GRCm39)	D103G	probably damaging	Het
Lpin3	T	C	2: 160,747,210 (GRCm39)	L822P	probably damaging	Het
Lrrc38	G	A	4: 143,076,845 (GRCm39)	C36Y	probably damaging	Het
Ly6e	T	C	15: 74,830,183 (GRCm39)	S46P	possibly damaging	Het
Nav2	T	C	7: 49,244,067 (GRCm39)	I2098T	probably benign	Het
Nipbl	T	C	15: 8,381,010 (GRCm39)	E594G	probably benign	Het
Or52k2	T	A	7: 102,253,853 (GRCm39)	H97Q	probably benign	Het
Parn	T	C	16: 13,425,117 (GRCm39)	D432G	probably damaging	Het
Pcdh20	A	G	14: 88,704,793 (GRCm39)	S836P	probably damaging	Het
Pcmtd2	C	T	2: 181,496,868 (GRCm39)	R282C	probably damaging	Het
Ppp2r3c	A	G	12: 55,328,490 (GRCm39)	I425T	probably benign	Het
Sars1	C	T	3: 108,338,780 (GRCm39)		probably null	Het
Senp8	A	G	9: 59,645,121 (GRCm39)	Y12H	possibly damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Srr	T	G	11: 74,803,961 (GRCm39)		probably null	Het
Steap2	T	A	5: 5,732,967 (GRCm39)	N19I	possibly damaging	Het
Sucla2	A	G	14: 73,806,433 (GRCm39)	Y168C	probably damaging	Het
Tha1	T	C	11: 117,760,281 (GRCm39)	Q275R	probably damaging	Het
Trim56	T	C	5: 137,143,510 (GRCm39)	N2S	probably benign	Het
Tubgcp6	T	A	15: 88,988,426 (GRCm39)	H849L	probably benign	Het
Uevld	A	G	7: 46,597,775 (GRCm39)	I72T	possibly damaging	Het
Ybx1	A	G	4: 119,136,164 (GRCm39)	*323Q	probably null	Het
Zfp354b	C	T	11: 50,819,390 (GRCm39)		probably null	Het
Zfp36l2	A	T	17: 84,494,346 (GRCm39)	L97Q	probably benign	Het
Zfp729a	T	A	13: 67,771,612 (GRCm39)	R78S	possibly damaging	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
R5639:Samm50	UTSW	15	84,098,329 (GRCm39)	missense	probably benign	0.22
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
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'- GGAGTGTCTGCAGAGTACAGTG -3'
(R):5'- AGGCTGCAGGTTGTATGTCC -3'

Sequencing Primer
(F):5'- CAGTGTGAGTATAGCAGGCCCTG -3'
(R):5'- AGGTTGTATGTCCCTCCCCAG -3'

Posted On

2020-04-21