Mutagenetix > Incidental Mutations

Incidental Mutation 'R6258:Samm50'

506505

Institutional Source

Beutler Lab

Gene Symbol

Samm50

Ensembl Gene

ENSMUSG00000022437

Gene Name

SAMM50 sorting and assembly machinery component

Synonyms

1110030L07Rik

MMRRC Submission

044375-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R6258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84200312 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 150 (P150H)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023071
AA Change: P150H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: P150H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230659

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231124

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

99% (74/75)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	T	C	5: 109,676,567	H339R	probably benign	Het
Adamtsl3	T	C	7: 82,528,983		probably null	Het
Alms1	A	T	6: 85,628,735	K2456*	probably null	Het
Alppl2	A	T	1: 87,088,462	M225K	probably damaging	Het
AU041133	A	G	10: 82,151,158	E215G	probably damaging	Het
Carmil3	T	A	14: 55,500,432	L815Q	probably damaging	Het
Casr	A	G	16: 36,517,609	C60R	probably damaging	Het
Cdc7	A	G	5: 106,969,227	K84E	probably damaging	Het
Cdc73	G	A	1: 143,691,473	T104I	probably benign	Het
Clcc1	G	A	3: 108,673,308	V313I	possibly damaging	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Crocc2	A	G	1: 93,213,638	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,834,361	V86A	probably damaging	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,816,442		probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnah17	C	A	11: 118,126,322	W197C	probably damaging	Het
Dnah17	C	T	11: 118,126,323	W197*	probably null	Het
Dnah17	A	T	11: 118,126,324	W197R	probably damaging	Het
Egflam	T	A	15: 7,234,292	T726S	probably damaging	Het
Eml2	T	G	7: 19,179,364		probably null	Het
Ercc6	T	A	14: 32,557,856	D609E	probably benign	Het
Erg	C	A	16: 95,380,241	R147L	probably damaging	Het
Faiml	T	C	9: 99,232,460	I125M	possibly damaging	Het
Fbxo41	A	T	6: 85,478,555	L549H	probably damaging	Het
Fbxw2	A	T	2: 34,812,813		probably null	Het
Fgd6	T	A	10: 94,044,299	N338K	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gm14085	A	T	2: 122,523,482	I530F	probably damaging	Het
Gm32742	T	A	9: 51,157,562	I200F	probably damaging	Het
Gm35339	C	A	15: 76,355,695	S277*	probably null	Het
Gm4924	T	G	10: 82,377,473		probably benign	Het
Gm8369	G	A	19: 11,511,609	A87T	possibly damaging	Het
H2-M10.1	T	A	17: 36,324,102	I304F	unknown	Het
Ighv5-8	A	G	12: 113,654,991	T9A	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jakmip1	G	T	5: 37,141,760	E775*	probably null	Het
Klhl40	T	C	9: 121,777,960	F62S	probably damaging	Het
Krtcap3	A	T	5: 31,252,228	R84W	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lins1	T	C	7: 66,710,748		probably null	Het
Magi3	A	G	3: 104,089,596	L211P	probably damaging	Het
Map2k5	T	A	9: 63,217,365	I359F	probably benign	Het
Map4k5	C	A	12: 69,831,562	R355L	probably benign	Het
Mef2c	T	A	13: 83,652,938	D252E	probably damaging	Het
Methig1	T	C	15: 100,353,541	V111A	possibly damaging	Het
Mical3	A	T	6: 121,009,030	L150Q	probably damaging	Het
Nf1	A	T	11: 79,565,755		probably null	Het
Nisch	T	A	14: 31,177,128		probably benign	Het
Olfr1309	C	T	2: 111,984,051	V8I	probably benign	Het
Olfr485	T	C	7: 108,158,974	N300D	probably damaging	Het
Pcdhb12	T	C	18: 37,436,839	V346A	probably benign	Het
Pde7b	T	C	10: 20,440,800	D168G	possibly damaging	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Pla2g4a	A	G	1: 149,857,487	S504P	probably benign	Het
Plin2	G	T	4: 86,657,289	A341D	probably damaging	Het
Psma8	A	G	18: 14,721,267	D68G	probably damaging	Het
Rcor3	G	A	1: 192,124,259	H207Y	probably benign	Het
Rptn	C	G	3: 93,398,130	H923Q	possibly damaging	Het
Ryr3	A	G	2: 112,660,104	F3795S	probably damaging	Het
Slc6a18	A	T	13: 73,670,045	C284*	probably null	Het
Smc3	T	A	19: 53,627,731		probably null	Het
Snrnp200	G	A	2: 127,218,423	G529D	possibly damaging	Het
Sord	T	A	2: 122,259,132		probably null	Het
Spdl1	T	A	11: 34,819,886	N345I	probably damaging	Het
Sucnr1	T	C	3: 60,086,357	L102P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,516	W76R	probably damaging	Het
Tcerg1	T	A	18: 42,553,465	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,667,918	T492A	probably benign	Het
Trdmt1	T	A	2: 13,520,059	Q195L	probably benign	Het
Ubr3	A	G	2: 69,982,864		probably null	Het
Ung	A	T	5: 114,137,300	Y250F	probably benign	Het
Vezf1	A	G	11: 88,081,500	N229S	probably damaging	Het
Wdfy3	C	T	5: 101,872,965	R2491Q	possibly damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zscan4-ps1	C	A	7: 11,065,902	E353D	probably benign	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
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
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
X0067:Samm50	UTSW	15	84202833	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAATAGGACAGATGTGCGTGC -3'
(R):5'- TGTCATTTCACACACCAGCC -3'

Sequencing Primer
(F):5'- CAGGAGACTTCTGCCTTCCAG -3'
(R):5'- ACCAGCCATCTACTTTAATGTTTAC -3'

Posted On

2018-03-15