Mutagenetix > Incidental Mutation

Incidental Mutation 'R5464:Smco1'

433184

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

042850-MU

Accession Numbers

Essential gene?

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

Stock #

R5464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32090298-32093599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32092694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 122 (W122R)

Ref Sequence

ENSEMBL: ENSMUSP00000090873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014218] [ENSMUST00000093183] [ENSMUST00000155649] [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: W122R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: W122R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155649

SMART Domains

Protein: ENSMUSP00000115807
Gene: ENSMUSG00000014074

Domain	Start	End	E-Value	Type
RING	16	54	8.23e-6	SMART
coiled coil region	114	183	N/A	INTRINSIC

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,227 (GRCm39)	G180E	probably damaging	Het
Acsl1	T	A	8: 46,958,775 (GRCm39)	D95E	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adamts16	T	A	13: 70,909,868 (GRCm39)	H895L	probably benign	Het
Alox12e	T	C	11: 70,208,505 (GRCm39)	Y483C	probably damaging	Het
Atp13a2	T	A	4: 140,733,381 (GRCm39)	F952I	probably damaging	Het
Crot	T	G	5: 9,033,690 (GRCm39)		probably null	Het
Dnaja1	T	A	4: 40,724,133 (GRCm39)	M98K	probably benign	Het
Eps8	C	T	6: 137,504,473 (GRCm39)	G87R	probably damaging	Het
Flg2	C	A	3: 93,109,277 (GRCm39)	T435K	possibly damaging	Het
Gpatch4	T	C	3: 87,962,062 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,448,524 (GRCm39)	M1795K	probably benign	Het
Ift52	T	C	2: 162,871,735 (GRCm39)	V189A	probably benign	Het
Kif21a	T	A	15: 90,878,058 (GRCm39)	D250V	probably damaging	Het
Lrrc66	T	C	5: 73,765,622 (GRCm39)	T474A	probably benign	Het
Mcub	T	C	3: 129,709,365 (GRCm39)	E316G	probably benign	Het
Mettl15	C	T	2: 109,021,967 (GRCm39)	V113I	probably benign	Het
Mroh8	T	A	2: 157,063,150 (GRCm39)	I824F	probably damaging	Het
Mrpl19	A	G	6: 81,938,992 (GRCm39)	M270T	probably damaging	Het
Naa12	C	T	18: 80,255,138 (GRCm39)	A144V	probably damaging	Het
Or10d4	A	T	9: 39,581,066 (GRCm39)	T238S	probably damaging	Het
Or4ac1-ps1	T	C	2: 88,370,599 (GRCm39)	Y58C	probably null	Het
Or51a25	A	G	7: 102,373,124 (GRCm39)	V191A	possibly damaging	Het
Or51a39	T	C	7: 102,362,889 (GRCm39)	T244A	probably benign	Het
Or51a43	C	A	7: 103,717,674 (GRCm39)	R188L	possibly damaging	Het
Or51f5	A	G	7: 102,424,640 (GRCm39)	K303R	probably benign	Het
Or52a24	T	A	7: 103,381,396 (GRCm39)	W88R	probably damaging	Het
Or5ak23	AAGTCTGGAGTC	AAGTC	2: 85,245,057 (GRCm39)		probably null	Het
Or6x1	T	C	9: 40,099,080 (GRCm39)	I223T	probably damaging	Het
Pacs1	T	C	19: 5,197,235 (GRCm39)	M430V	probably benign	Het
Piezo2	A	G	18: 63,278,176 (GRCm39)	S243P	probably damaging	Het
Ppp1r36	A	T	12: 76,474,852 (GRCm39)		probably null	Het
Prdm16	T	A	4: 154,430,601 (GRCm39)		probably null	Het
Prss36	A	T	7: 127,533,405 (GRCm39)	W97R	probably damaging	Het
Psmg4	A	T	13: 34,362,047 (GRCm39)	I112F	probably damaging	Het
Ptpru	C	T	4: 131,499,868 (GRCm39)	G1259R	probably damaging	Het
Rsph4a	T	C	10: 33,785,337 (GRCm39)	I416T	possibly damaging	Het
Scn2a	C	T	2: 65,532,100 (GRCm39)	R571C	probably damaging	Het
Selenbp1	A	G	3: 94,851,727 (GRCm39)	M423V	probably benign	Het
Serpina3i	G	A	12: 104,234,751 (GRCm39)	A361T	possibly damaging	Het
Serpinb3c	A	T	1: 107,199,434 (GRCm39)	D362E	probably damaging	Het
Sf3a3	T	C	4: 124,622,033 (GRCm39)		probably null	Het
Sgcg	A	G	14: 61,474,304 (GRCm39)	V113A	possibly damaging	Het
Slc3a2	T	C	19: 8,691,008 (GRCm39)	K74R	probably damaging	Het
Snx19	A	G	9: 30,339,269 (GRCm39)	K136E	possibly damaging	Het
Trim32	A	G	4: 65,532,625 (GRCm39)	N394S	probably damaging	Het
Uqcrb	T	C	13: 67,048,889 (GRCm39)	D87G	probably damaging	Het
Wipf3	T	C	6: 54,462,308 (GRCm39)	S173P	possibly damaging	Het
Zfp473	T	C	7: 44,382,062 (GRCm39)	E756G	probably 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
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
R8684:Smco1	UTSW	16	32,092,841 (GRCm39)	missense	probably damaging	0.96
Z1088:Smco1	UTSW	16	32,092,033 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATTTAAGGAGCTTTGCCCG -3'
(R):5'- TCTCGATGATCTGAACAGCTC -3'

Sequencing Primer
(F):5'- AAGGAGCTTTGCCCGTTTTTCATAG -3'
(R):5'- AATCCATCCTGTAGAGCCTGG -3'

Posted On

2016-10-06