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

84076441-84100284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84094702 bp (GRCm39)

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
Abcc6	C	T	7: 45,629,449 (GRCm39)	V1293M	probably damaging	Het
Agt	A	G	8: 125,290,537 (GRCm39)	W257R	possibly damaging	Het
Arhgef11	T	A	3: 87,620,406 (GRCm39)	N457K	probably benign	Het
Bcl3	G	T	7: 19,554,082 (GRCm39)	H95Q	probably benign	Het
C1d	T	A	11: 17,213,662 (GRCm39)	N64K	probably damaging	Het
Casc3	C	T	11: 98,713,607 (GRCm39)	R280C	probably damaging	Het
Cd300c2	C	T	11: 114,891,466 (GRCm39)	S136N	probably benign	Het
Cdh8	A	G	8: 99,757,672 (GRCm39)	V642A	possibly damaging	Het
Cep290	A	T	10: 100,331,706 (GRCm39)	I180F	possibly damaging	Het
Copz2	A	G	11: 96,744,887 (GRCm39)	E86G	probably damaging	Het
Cplane1	A	G	15: 8,230,635 (GRCm39)	I971V	probably benign	Het
Cracdl	A	G	1: 37,652,537 (GRCm39)	V1090A	probably benign	Het
Csf3r	A	T	4: 125,923,712 (GRCm39)	D74V	possibly damaging	Het
Cyp11b1	T	G	15: 74,710,789 (GRCm39)	E257A	possibly damaging	Het
Dlg2	A	G	7: 92,024,875 (GRCm39)	Q580R	probably damaging	Het
Dnai2	A	T	11: 114,645,275 (GRCm39)	K570M	unknown	Het
Dock8	A	G	19: 25,133,281 (GRCm39)	K1143E	probably benign	Het
Dxo	T	C	17: 35,058,099 (GRCm39)	S394P	probably benign	Het
Etl4	A	G	2: 20,810,977 (GRCm39)	D1388G	probably benign	Het
F13a1	C	A	13: 37,209,692 (GRCm39)	R91L	probably damaging	Het
Fam50b	C	T	13: 34,930,856 (GRCm39)	R111*	probably null	Het
Fat2	T	G	11: 55,202,535 (GRCm39)	N180H	probably damaging	Het
Fitm2	A	T	2: 163,311,768 (GRCm39)	H148Q	probably benign	Het
Fjx1	A	T	2: 102,281,156 (GRCm39)	S260T	possibly damaging	Het
Fos	T	C	12: 85,522,466 (GRCm39)	L165P	probably damaging	Het
Gm39115	C	A	7: 141,689,710 (GRCm39)	C21F	unknown	Het
Gucy1a1	C	T	3: 82,005,000 (GRCm39)	C595Y	probably damaging	Het
Hectd4	G	T	5: 121,467,172 (GRCm39)	W2478L	possibly damaging	Het
I830077J02Rik	T	A	3: 105,836,060 (GRCm39)	K9N	probably damaging	Het
Ift70a1	T	C	2: 75,811,519 (GRCm39)	D188G	probably benign	Het
Ireb2	T	C	9: 54,811,265 (GRCm39)	F723L	possibly damaging	Het
Itpr1	G	A	6: 108,496,309 (GRCm39)	V2580I	probably damaging	Het
Kcnu1	G	A	8: 26,382,092 (GRCm39)	G481R	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Klra8	A	G	6: 130,105,056 (GRCm39)	V23A	probably damaging	Het
Lig4	A	G	8: 10,023,777 (GRCm39)	M1T	probably null	Het
Lpin3	C	T	2: 160,737,273 (GRCm39)	P107S	probably damaging	Het
Lrp1b	T	A	2: 41,265,867 (GRCm39)	K1100*	probably null	Het
Obscn	G	A	11: 58,929,700 (GRCm39)	H5172Y	probably damaging	Het
Or10a3m	T	A	7: 108,313,418 (GRCm39)	M286K	possibly damaging	Het
Or4p20	A	G	2: 88,253,745 (GRCm39)	I208T	probably benign	Het
Or5ae1	C	T	7: 84,565,787 (GRCm39)	H267Y	probably benign	Het
Or6z1	T	A	7: 6,504,734 (GRCm39)	T170S	probably damaging	Het
Or8c14-ps1	A	T	9: 38,101,498 (GRCm39)	H159L	possibly damaging	Het
Orc3	A	G	4: 34,593,173 (GRCm39)	L298P	probably damaging	Het
Otub1	A	G	19: 7,177,360 (GRCm39)	F96L	probably damaging	Het
Pcnx3	A	G	19: 5,736,670 (GRCm39)	S156P	probably benign	Het
Pde3b	A	G	7: 114,126,129 (GRCm39)	M788V	probably damaging	Het
Pias4	A	G	10: 80,992,844 (GRCm39)		probably null	Het
Polg	A	G	7: 79,114,743 (GRCm39)	C73R	probably benign	Het
Ptbp2	T	C	3: 119,541,467 (GRCm39)	Y190C	probably damaging	Het
Rab33b	T	A	3: 51,401,050 (GRCm39)	F175I	probably damaging	Het
Rfx1	A	G	8: 84,806,515 (GRCm39)	T108A	probably benign	Het
Ribc2	A	G	15: 85,019,461 (GRCm39)	D81G	probably benign	Het
Rnf213	T	G	11: 119,340,149 (GRCm39)	M3460R		Het
Rsf1	T	A	7: 97,266,103 (GRCm39)	S86T		Het
Rxfp2	C	A	5: 149,973,068 (GRCm39)	T181N	possibly damaging	Het
Shld2	A	C	14: 33,989,942 (GRCm39)	N321K	probably benign	Het
Slc22a18	T	C	7: 143,051,123 (GRCm39)	V334A	probably damaging	Het
Slc23a3	A	T	1: 75,110,085 (GRCm39)	C97S	probably benign	Het
Smchd1	T	A	17: 71,714,244 (GRCm39)	H873L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Sphkap	T	A	1: 83,255,953 (GRCm39)	I599F	probably benign	Het
Stox1	A	G	10: 62,501,543 (GRCm39)	V339A	probably damaging	Het
Tlx1	A	G	19: 45,142,036 (GRCm39)	E220G	probably damaging	Het
Tmem71	C	A	15: 66,413,421 (GRCm39)		probably null	Het
Tmprss3	T	C	17: 31,413,976 (GRCm39)	D56G	possibly damaging	Het
Trabd	A	G	15: 88,970,107 (GRCm39)	R368G	probably benign	Het
Trf	A	G	9: 103,094,675 (GRCm39)	I461T	probably damaging	Het
Trpm3	A	G	19: 22,676,226 (GRCm39)	T133A	possibly damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Vps13b	T	A	15: 35,455,246 (GRCm39)	N718K	probably benign	Het
Zdbf2	T	C	1: 63,345,166 (GRCm39)	S1182P	possibly damaging	Het
Zfp13	T	C	17: 23,795,866 (GRCm39)	D235G	probably benign	Het
Zfp407	T	C	18: 84,227,987 (GRCm39)	E1874G	probably damaging	Het
Zfp503	T	C	14: 22,036,277 (GRCm39)	K213R	probably benign	Het
Zkscan2	A	G	7: 123,084,651 (GRCm39)	V491A	probably 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
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
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'- CAGCAGCCTCATTCCTTTGG -3'
(R):5'- TTTCTAGAGTAAGCCGCAGCC -3'

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

Posted On

2020-10-20