Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02037:Smco3'

184555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smco3

Ensembl Gene

ENSMUSG00000043298

Gene Name

single-pass membrane protein with coiled-coil domains 3

Synonyms

C030030A07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL02037

Quality Score

Status

Chromosome

Chromosomal Location

136806929-136812448 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 136808197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 226 (*226R)

Ref Sequence

ENSEMBL: ENSMUSP00000144838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052702] [ENSMUST00000068293] [ENSMUST00000111894] [ENSMUST00000116514] [ENSMUST00000146348] [ENSMUST00000203468] [ENSMUST00000204086] [ENSMUST00000203499] [ENSMUST00000204272]

AlphaFold

Q8BQM7

Predicted Effect

probably benign
Transcript: ENSMUST00000052702

SMART Domains

Protein: ENSMUSP00000049512
Gene: ENSMUSG00000047515

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.3e-64	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000068293
AA Change: *226R

SMART Domains

Protein: ENSMUSP00000066235
Gene: ENSMUSG00000043298
AA Change: *226R

Domain	Start	End	E-Value	Type
Pfam:DUF4533	14	221	1.9e-83	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000111894
AA Change: *226R

SMART Domains

Protein: ENSMUSP00000107525
Gene: ENSMUSG00000043298
AA Change: *226R

Domain	Start	End	E-Value	Type
Pfam:DUF4533	14	221	2.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116514

SMART Domains

Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216

Domain	Start	End	E-Value	Type
Pfam:Wbp11	12	94	1e-26	PFAM
low complexity region	191	209	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	344	367	N/A	INTRINSIC
low complexity region	380	532	N/A	INTRINSIC
low complexity region	549	565	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141598

Predicted Effect

probably benign
Transcript: ENSMUST00000146348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151333

Predicted Effect

probably null
Transcript: ENSMUST00000203468
AA Change: *226R

SMART Domains

Protein: ENSMUSP00000144838
Gene: ENSMUSG00000043298
AA Change: *226R

Domain	Start	End	E-Value	Type
Pfam:DUF4533	14	221	2.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204086

Predicted Effect

probably benign
Transcript: ENSMUST00000203499

SMART Domains

Protein: ENSMUSP00000145015
Gene: ENSMUSG00000047515

Domain	Start	End	E-Value	Type
Pfam:DUF4533	8	235	1.6e-97	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205058

Predicted Effect

probably benign
Transcript: ENSMUST00000204272

SMART Domains

Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216

Domain	Start	End	E-Value	Type
Pfam:Wbp11	12	94	3.8e-24	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	A	6: 92,804,997 (GRCm39)		probably benign	Het
Ace2	T	A	X: 162,946,996 (GRCm39)	V293D	probably damaging	Het
Adgrg6	T	C	10: 14,317,185 (GRCm39)	Y545C	probably damaging	Het
Arhgap40	A	G	2: 158,376,742 (GRCm39)	T293A	probably damaging	Het
Arhgef19	A	G	4: 140,973,707 (GRCm39)	T65A	probably damaging	Het
Brf1	A	G	12: 112,956,682 (GRCm39)		probably null	Het
Cbfb	T	C	8: 105,905,252 (GRCm39)	S65P	possibly damaging	Het
Chsy1	T	C	7: 65,821,576 (GRCm39)	S604P	possibly damaging	Het
Ckmt1	T	C	2: 121,191,643 (GRCm39)	V271A	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,371,263 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,038,559 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,007 (GRCm39)	T492A	probably benign	Het
Fam3a	G	A	X: 73,430,241 (GRCm39)	T156I	probably damaging	Het
Fbn2	A	T	18: 58,229,087 (GRCm39)	C708S	probably damaging	Het
Fgf5	G	A	5: 98,409,831 (GRCm39)	G127R	probably damaging	Het
Fhip1a	T	G	3: 85,637,939 (GRCm39)	K120T	probably damaging	Het
Fn3k	A	T	11: 121,325,909 (GRCm39)	Y32F	probably benign	Het
Frem3	T	C	8: 81,338,118 (GRCm39)	I137T	probably benign	Het
Hc	T	C	2: 34,903,531 (GRCm39)	D1041G	probably benign	Het
Heatr6	T	A	11: 83,655,708 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,309,553 (GRCm39)	A598T	probably benign	Het
Ifngr1	T	C	10: 19,483,007 (GRCm39)	S254P	probably benign	Het
Kel	T	C	6: 41,674,408 (GRCm39)	S341G	probably benign	Het
Klra6	A	C	6: 129,990,439 (GRCm39)	M224R	probably benign	Het
Mis18bp1	A	G	12: 65,183,522 (GRCm39)		probably null	Het
Mpeg1	C	T	19: 12,440,660 (GRCm39)	T706I	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Or5al7	G	T	2: 85,993,181 (GRCm39)	F37L	probably benign	Het
Palld	T	C	8: 61,978,148 (GRCm39)	R881G	probably damaging	Het
Pdha2	A	T	3: 140,916,662 (GRCm39)	V282E	probably damaging	Het
Pga5	C	T	19: 10,654,065 (GRCm39)	R46Q	probably benign	Het
Plekhg2	T	C	7: 28,068,122 (GRCm39)	Y189C	probably damaging	Het
Rnf43	A	G	11: 87,622,479 (GRCm39)	T527A	probably benign	Het
Rplp0	G	A	5: 115,699,174 (GRCm39)	R73Q	probably benign	Het
Sugp2	T	C	8: 70,712,324 (GRCm39)		probably benign	Het
Tsga10	T	C	1: 37,846,098 (GRCm39)	I343V	probably benign	Het
Ube2q2	A	G	9: 55,075,502 (GRCm39)	K104E	probably damaging	Het
Ube3a	C	T	7: 58,925,506 (GRCm39)		probably benign	Het
Usp11	T	C	X: 20,585,381 (GRCm39)	I785T	probably damaging	Het
Vmn2r22	A	T	6: 123,626,026 (GRCm39)	C137S	probably damaging	Het
Zfp281	T	C	1: 136,555,185 (GRCm39)	V721A	possibly damaging	Het
Zfp946	T	C	17: 22,672,469 (GRCm39)	S23P	probably damaging	Het
Zfyve1	A	G	12: 83,594,694 (GRCm39)	V766A	probably damaging	Het

Other mutations in Smco3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1928:Smco3	UTSW	6	136,808,845 (GRCm39)	nonsense	probably null
R3407:Smco3	UTSW	6	136,808,425 (GRCm39)	missense	probably benign	0.36
R4348:Smco3	UTSW	6	136,808,692 (GRCm39)	missense	possibly damaging	0.81
R4735:Smco3	UTSW	6	136,808,636 (GRCm39)	missense	probably damaging	1.00
R5744:Smco3	UTSW	6	136,808,763 (GRCm39)	missense	probably damaging	1.00
R7716:Smco3	UTSW	6	136,808,247 (GRCm39)	missense	probably damaging	1.00
R8983:Smco3	UTSW	6	136,808,730 (GRCm39)	missense	possibly damaging	0.92
R9224:Smco3	UTSW	6	136,808,517 (GRCm39)	missense	probably damaging	1.00
R9234:Smco3	UTSW	6	136,808,410 (GRCm39)	missense	probably damaging	1.00
X0066:Smco3	UTSW	6	136,808,532 (GRCm39)	missense	probably damaging	1.00
Z1177:Smco3	UTSW	6	136,808,691 (GRCm39)	missense	probably benign	0.06

Posted On

2014-05-07