Mutagenetix > Incidental Mutation

Incidental Mutation 'R8443:Samm50'

654338

Institutional Source

Beutler Lab

Gene Symbol

Samm50

Ensembl Gene

ENSMUSG00000022437

Gene Name

SAMM50 sorting and assembly machinery component

Synonyms

1110030L07Rik

MMRRC Submission

067825-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R8443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84192241-84217267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84210501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 365 (E365K)

Ref Sequence

ENSEMBL: ENSMUSP00000023071 (fasta)

Gene Model

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

AlphaFold

Q8BGH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023071
AA Change: E365K

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: E365K

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: 99.7%
20x: 99.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,613,456	V1090A	probably benign	Het
2410089E03Rik	A	G	15: 8,201,151	I971V	probably benign	Het
Abcc6	C	T	7: 45,980,025	V1293M	probably damaging	Het
Agt	A	G	8: 124,563,798	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,713,099	N457K	probably benign	Het
Bcl3	G	T	7: 19,820,157	H95Q	probably benign	Het
C1d	T	A	11: 17,263,662	N64K	probably damaging	Het
Casc3	C	T	11: 98,822,781	R280C	probably damaging	Het
Cd300c2	C	T	11: 115,000,640	S136N	probably benign	Het
Cdh8	A	G	8: 99,031,040	V642A	possibly damaging	Het
Cep290	A	T	10: 100,495,844	I180F	possibly damaging	Het
Copz2	A	G	11: 96,854,061	E86G	probably damaging	Het
Csf3r	A	T	4: 126,029,919	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,838,940	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,375,667	Q580R	probably damaging	Het
Dnaic2	A	T	11: 114,754,449	K570M	unknown	Het
Dock8	A	G	19: 25,155,917	K1143E	probably benign	Het
Dxo	T	C	17: 34,839,123	S394P	probably benign	Het
Etl4	A	G	2: 20,806,166	D1388G	probably benign	Het
F13a1	C	A	13: 37,025,718	R91L	probably damaging	Het
Fam35a	A	C	14: 34,267,985	N321K	probably benign	Het
Fam50b	C	T	13: 34,746,873	R111*	probably null	Het
Fat2	T	G	11: 55,311,709	N180H	probably damaging	Het
Fitm2	A	T	2: 163,469,848	H148Q	probably benign	Het
Fjx1	A	T	2: 102,450,811	S260T	possibly damaging	Het
Fos	T	C	12: 85,475,692	L165P	probably damaging	Het
Gm39115	C	A	7: 142,135,973	C21F	unknown	Het
Gucy1a1	C	T	3: 82,097,693	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,329,109	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,928,744	K9N	probably damaging	Het
Ireb2	T	C	9: 54,903,981	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,519,348	V2580I	probably damaging	Het
Kcnu1	G	A	8: 25,892,064	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,793,076	A90S	probably benign	Het
Klra8	A	G	6: 130,128,093	V23A	probably damaging	Het
Lig4	A	G	8: 9,973,777	M1T	probably null	Het
Lpin3	C	T	2: 160,895,353	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,375,855	K1100*	probably null	Het
Obscn	G	A	11: 59,038,874	H5172Y	probably damaging	Het
Olfr1181	A	G	2: 88,423,401	I208T	probably benign	Het
Olfr1348	T	A	7: 6,501,735	T170S	probably damaging	Het
Olfr290	C	T	7: 84,916,579	H267Y	probably benign	Het
Olfr512	T	A	7: 108,714,211	M286K	possibly damaging	Het
Olfr892-ps1	A	T	9: 38,190,202	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173	L298P	probably damaging	Het
Otub1	A	G	19: 7,199,995	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,686,642	S156P	probably benign	Het
Pde3b	A	G	7: 114,526,894	M788V	probably damaging	Het
Pias4	A	G	10: 81,157,010		probably null	Het
Polg	A	G	7: 79,464,995	C73R	probably benign	Het
Ptbp2	T	C	3: 119,747,818	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,493,629	F175I	probably damaging	Het
Rfx1	A	G	8: 84,079,886	T108A	probably benign	Het
Ribc2	A	G	15: 85,135,260	D81G	probably benign	Het
Rnf213	T	G	11: 119,449,323	M3460R		Het
Rsf1	T	A	7: 97,616,896	S86T		Het
Rxfp2	C	A	5: 150,049,603	T181N	possibly damaging	Het
Slc22a18	T	C	7: 143,497,386	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,133,441	C97S	probably benign	Het
Smchd1	T	A	17: 71,407,249	H873L	probably benign	Het
Snrpa1	G	A	7: 66,070,633	G195R	probably benign	Het
Sphkap	T	A	1: 83,278,232	I599F	probably benign	Het
Stox1	A	G	10: 62,665,764	V339A	probably damaging	Het
Tlx1	A	G	19: 45,153,597	E220G	probably damaging	Het
Tmem71	C	A	15: 66,541,572		probably null	Het
Tmprss3	T	C	17: 31,195,002	D56G	possibly damaging	Het
Trabd	A	G	15: 89,085,904	R368G	probably benign	Het
Trf	A	G	9: 103,217,476	I461T	probably damaging	Het
Trpm3	A	G	19: 22,698,862	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,295,383	V667I	possibly damaging	Het
Ttc30a1	T	C	2: 75,981,175	D188G	probably benign	Het
Vps13b	T	A	15: 35,455,100	N718K	probably benign	Het
Zdbf2	T	C	1: 63,306,007	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,576,892	D235G	probably benign	Het
Zfp407	T	C	18: 84,209,862	E1874G	probably damaging	Het
Zfp503	T	C	14: 21,986,209	K213R	probably benign	Het
Zkscan2	A	G	7: 123,485,428	V491A	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
R8421:Samm50	UTSW	15	84210585	missense	probably benign	0.04
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'- CAGCAGCCTCATTCCTTTGG -3'
(R):5'- TTTCTAGAGTAAGCCGCAGCC -3'

Sequencing Primer
(F):5'- AGCCTCATTCCTTTGGGGTAC -3'
(R):5'- CCCCTTTACATAACGGCATTGTAAGG -3'

Posted On

2020-10-20