Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02000:Smco1'

183014

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smco1

Ensembl Gene

ENSMUSG00000046345

Gene Name

single-pass membrane protein with coiled-coil domains 1

Synonyms

2310010M20Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02000

Quality Score

Status

Chromosome

Chromosomal Location

32090298-32093599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32092751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 141 (T141S)

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

possibly damaging
Transcript: ENSMUST00000093183
AA Change: T141S

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090873
Gene: ENSMUSG00000046345
AA Change: T141S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid5a	T	C	1: 36,358,578 (GRCm39)	F450S	probably damaging	Het
Astn1	C	T	1: 158,502,184 (GRCm39)	R1133C	probably damaging	Het
Cd101	G	A	3: 100,919,398 (GRCm39)	P568L	probably benign	Het
Cdkl4	T	C	17: 80,851,192 (GRCm39)	E170G	probably damaging	Het
Chit1	A	G	1: 134,074,413 (GRCm39)	E240G	probably benign	Het
Duox2	T	C	2: 122,121,190 (GRCm39)	T741A	probably benign	Het
Eef2	T	C	10: 81,015,845 (GRCm39)	V427A	probably benign	Het
Ewsr1	T	C	11: 5,038,077 (GRCm39)	D105G	probably damaging	Het
Ftsj3	C	T	11: 106,141,233 (GRCm39)	R629Q	probably benign	Het
Gm10406	C	T	14: 18,341,703 (GRCm39)	G181E	probably benign	Het
Ilk	A	G	7: 105,390,376 (GRCm39)	H185R	probably benign	Het
Lamc1	A	T	1: 153,116,179 (GRCm39)	C1001S	probably damaging	Het
Mcidas	T	C	13: 113,133,974 (GRCm39)	S153P	probably benign	Het
Mtcl1	T	C	17: 66,661,185 (GRCm39)	E931G	probably benign	Het
Myo10	C	T	15: 25,808,152 (GRCm39)	R1925C	probably damaging	Het
Notch3	A	G	17: 32,341,716 (GRCm39)	V2012A	probably damaging	Het
Or6c76	C	A	10: 129,611,938 (GRCm39)	H67N	probably benign	Het
Parp6	A	G	9: 59,556,175 (GRCm39)	M542V	probably benign	Het
Rab27a	G	A	9: 72,992,254 (GRCm39)	G94D	probably damaging	Het
Ralgapb	A	G	2: 158,296,034 (GRCm39)		probably benign	Het
Rassf4	T	C	6: 116,622,933 (GRCm39)	E26G	probably benign	Het
Rnf166	C	T	8: 123,193,961 (GRCm39)	D221N	probably damaging	Het
Rptn	G	T	3: 93,303,735 (GRCm39)	G356V	probably benign	Het
Rwdd2b	T	A	16: 87,233,828 (GRCm39)		probably benign	Het
Scfd1	T	A	12: 51,460,900 (GRCm39)	S337T	probably benign	Het
Sel1l3	T	A	5: 53,302,835 (GRCm39)	D678V	probably damaging	Het
Sidt1	A	T	16: 44,106,732 (GRCm39)	F233I	probably damaging	Het
Slc12a4	T	C	8: 106,671,864 (GRCm39)	D917G	probably damaging	Het
Slc22a2	A	T	17: 12,803,270 (GRCm39)	I35F	possibly damaging	Het
Svs6	T	C	2: 164,159,352 (GRCm39)		probably benign	Het
Syne2	C	T	12: 76,062,419 (GRCm39)	A4247V	probably damaging	Het
Tacc2	T	A	7: 130,330,898 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,885,531 (GRCm39)	I358F	probably damaging	Het
Thnsl2	A	G	6: 71,111,203 (GRCm39)	S222P	probably damaging	Het
Tmem25	G	A	9: 44,709,568 (GRCm39)	R78*	probably null	Het
Ube2l6	T	C	2: 84,639,506 (GRCm39)		probably benign	Het
Usp10	T	A	8: 120,675,480 (GRCm39)	Y63N	possibly damaging	Het
Vit	A	G	17: 78,912,915 (GRCm39)	I283V	possibly damaging	Het
Vmn1r214	G	A	13: 23,219,270 (GRCm39)	V255I	possibly damaging	Het
Xpo1	A	G	11: 23,246,003 (GRCm39)	R1038G	probably damaging	Het
Ybx1	T	A	4: 119,139,509 (GRCm39)	N50I	probably damaging	Het
Zhx1	T	C	15: 57,917,683 (GRCm39)	K188E	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
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
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

Posted On

2014-05-07