Mutagenetix > Incidental Mutation

Incidental Mutation 'R8684:Smco1'

661962

Institutional Source

Beutler Lab

Gene Symbol

Smco1

Ensembl Gene

ENSMUSG00000046345

Gene Name

single-pass membrane protein with coiled-coil domains 1

Synonyms

2310010M20Rik

MMRRC Submission

068539-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R8684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32090298-32093599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32092841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 171 (N171Y)

Ref Sequence

ENSEMBL: ENSMUSP00000090873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000093183] [ENSMUST00000171474]

AlphaFold

Q8CEZ1

Predicted Effect

probably benign
Transcript: ENSMUST00000014218

SMART Domains

Protein: ENSMUSP00000014218
Gene: ENSMUSG00000014074

Domain	Start	End	E-Value	Type
RING	16	54	8.23e-6	SMART
coiled coil region	114	184	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093183
AA Change: N171Y

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: N171Y

Domain	Start	End	E-Value	Type
Pfam:DUF4547	19	214	5e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171474

SMART Domains

Protein: ENSMUSP00000126484
Gene: ENSMUSG00000014074

Domain	Start	End	E-Value	Type
RING	18	56	8.23e-6	SMART
coiled coil region	116	186	N/A	INTRINSIC
low complexity region	210	223	N/A	INTRINSIC

Meta Mutation Damage Score

0.3550

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	T	7: 42,097,413 (GRCm39)	R27H	probably benign	Het
Abca2	T	A	2: 25,336,508 (GRCm39)	L2229Q	possibly damaging	Het
Adamts4	A	T	1: 171,086,541 (GRCm39)	T778S	probably damaging	Het
AY358078	T	G	14: 52,059,597 (GRCm39)	Y311*	probably null	Het
Catsperg1	C	T	7: 28,897,825 (GRCm39)	V181M	probably damaging	Het
Cdcp3	C	A	7: 130,837,688 (GRCm39)	S528*	probably null	Het
Cep70	A	G	9: 99,145,842 (GRCm39)	K170E	possibly damaging	Het
Coro1b	T	A	19: 4,199,527 (GRCm39)	V62E	probably damaging	Het
Dnajc11	T	C	4: 152,065,183 (GRCm39)	*560Q	probably null	Het
Eci3	T	C	13: 35,143,874 (GRCm39)	N84D	probably damaging	Het
F5	T	A	1: 164,045,111 (GRCm39)	V2133E	probably benign	Het
Fancl	C	A	11: 26,420,826 (GRCm39)	P116Q		Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,492,669 (GRCm39)		probably null	Het
Golgb1	C	T	16: 36,734,764 (GRCm39)	T1378M	possibly damaging	Het
Hdac5	T	C	11: 102,096,147 (GRCm39)	N342S	probably benign	Het
Herc3	A	G	6: 58,864,561 (GRCm39)	K732E	probably damaging	Het
Lce1e	A	T	3: 92,615,269 (GRCm39)	I26N	unknown	Het
Lingo1	T	C	9: 56,528,106 (GRCm39)	Y167C	probably damaging	Het
Loxl3	A	G	6: 83,012,566 (GRCm39)	E35G	probably benign	Het
Mmp13	A	G	9: 7,282,089 (GRCm39)	M464V	possibly damaging	Het
Mov10	T	C	3: 104,711,690 (GRCm39)	H199R	probably benign	Het
Nbas	A	G	12: 13,386,368 (GRCm39)	T765A	probably damaging	Het
Nlgn3	C	T	X: 100,363,425 (GRCm39)	R679*	probably null	Het
Nrp1	C	T	8: 129,085,885 (GRCm39)		probably benign	Het
Nup88	C	A	11: 70,860,687 (GRCm39)	V31L	probably benign	Het
Or2r11	T	C	6: 42,437,827 (GRCm39)	N42S	probably damaging	Het
Or5d39	T	C	2: 87,979,872 (GRCm39)	T164A	probably benign	Het
Or7a36	A	T	10: 78,820,212 (GRCm39)	D196V	probably benign	Het
Pah	A	G	10: 87,414,827 (GRCm39)	N393S	probably benign	Het
Peli3	T	C	19: 4,985,022 (GRCm39)	Y163C	probably damaging	Het
Rasgef1b	A	T	5: 99,524,994 (GRCm39)	M55K	probably benign	Het
Ror2	T	C	13: 53,264,302 (GRCm39)	D930G	possibly damaging	Het
Rpgrip1l	T	G	8: 92,000,329 (GRCm39)	M537L	probably benign	Het
Ryr2	A	T	13: 11,702,875 (GRCm39)	V2871E	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sox2	T	A	3: 34,705,016 (GRCm39)	L151Q	probably benign	Het
Spink5	A	G	18: 44,143,305 (GRCm39)	E754G	probably benign	Het
Sulf1	A	T	1: 12,867,004 (GRCm39)	M63L	probably benign	Het
Traf2	A	G	2: 25,410,458 (GRCm39)	M390T	probably damaging	Het
Trav13d-4	T	C	14: 53,310,266 (GRCm39)	V16A	probably damaging	Het
Trmo	C	T	4: 46,386,251 (GRCm39)	W84*	probably null	Het
Trmo	T	C	4: 46,386,253 (GRCm39)		probably null	Het
Ttyh1	T	A	7: 4,133,791 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,643,220 (GRCm39)	N4194S	possibly damaging	Het
Vmn2r45	T	C	7: 8,486,511 (GRCm39)	Y259C	probably damaging	Het
Vmn2r94	T	A	17: 18,497,912 (GRCm39)		probably benign	Het
Zfp101	A	G	17: 33,600,977 (GRCm39)	S260P	possibly damaging	Het

Other mutations in Smco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Smco1	APN	16	32,092,887 (GRCm39)	missense	probably damaging	1.00
IGL01704:Smco1	APN	16	32,092,704 (GRCm39)	missense	probably benign	0.26
IGL02000:Smco1	APN	16	32,092,751 (GRCm39)	missense	possibly damaging	0.75
R0217:Smco1	UTSW	16	32,092,599 (GRCm39)	missense	possibly damaging	0.77
R0602:Smco1	UTSW	16	32,092,062 (GRCm39)	missense	probably damaging	0.98
R1794:Smco1	UTSW	16	32,092,950 (GRCm39)	missense	probably benign	0.03
R1913:Smco1	UTSW	16	32,092,700 (GRCm39)	missense	probably damaging	1.00
R1996:Smco1	UTSW	16	32,092,730 (GRCm39)	missense	probably benign	0.00
R1998:Smco1	UTSW	16	32,092,658 (GRCm39)	missense	probably damaging	1.00
R3801:Smco1	UTSW	16	32,092,716 (GRCm39)	missense	probably benign	0.00
R3802:Smco1	UTSW	16	32,092,716 (GRCm39)	missense	probably benign	0.00
R3915:Smco1	UTSW	16	32,092,583 (GRCm39)	missense	probably benign	0.01
R5194:Smco1	UTSW	16	32,092,592 (GRCm39)	missense	probably damaging	1.00
R5464:Smco1	UTSW	16	32,092,694 (GRCm39)	missense	probably damaging	1.00
R5850:Smco1	UTSW	16	32,092,674 (GRCm39)	missense	probably damaging	1.00
R6221:Smco1	UTSW	16	32,092,023 (GRCm39)	missense	probably benign	0.00
R6267:Smco1	UTSW	16	32,092,832 (GRCm39)	missense	probably benign	0.00
R6454:Smco1	UTSW	16	32,092,041 (GRCm39)	missense	possibly damaging	0.46
R7068:Smco1	UTSW	16	32,092,929 (GRCm39)	missense	probably benign	0.01
R7196:Smco1	UTSW	16	32,092,620 (GRCm39)	missense	probably damaging	1.00
R7227:Smco1	UTSW	16	32,092,833 (GRCm39)	missense	possibly damaging	0.93
R7517:Smco1	UTSW	16	32,092,785 (GRCm39)	missense	possibly damaging	0.88
R7587:Smco1	UTSW	16	32,092,541 (GRCm39)	missense	probably benign	0.01
R7923:Smco1	UTSW	16	32,092,865 (GRCm39)	missense	possibly damaging	0.58
R8247:Smco1	UTSW	16	32,092,557 (GRCm39)	missense	probably benign	0.06
Z1088:Smco1	UTSW	16	32,092,033 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCAGAAACTCCCAGAC -3'
(R):5'- ATGACCGAGAGTGGAACTGC -3'

Sequencing Primer
(F):5'- TGAGAAGTCTCCCGACCTTAG -3'
(R):5'- ACTGCTGGGTCAAAGGTAAC -3'

Posted On

2021-03-08