Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00562:Smim23'

277762

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smim23

Ensembl Gene

ENSMUSG00000020270

Gene Name

small integral membrane protein 23

Synonyms

1700008A04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL00562

Quality Score

Status

Chromosome

Chromosomal Location

32770376-32774594 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32771893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 58 (T58A)

Ref Sequence

ENSEMBL: ENSMUSP00000104989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020508] [ENSMUST00000109365]

AlphaFold

Q9DAL0

Predicted Effect

probably benign
Transcript: ENSMUST00000020508
AA Change: T58A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020508
Gene: ENSMUSG00000020270
AA Change: T58A

Domain	Start	End	E-Value	Type
Pfam:DUF4635	1	135	1.4e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109365
AA Change: T58A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104989
Gene: ENSMUSG00000020270
AA Change: T58A

Domain	Start	End	E-Value	Type
Pfam:DUF4635	1	73	1e-35	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 25,202,619 (GRCm39)		probably benign	Het
AU016765	C	A	17: 64,826,877 (GRCm39)		noncoding transcript	Het
Chaf1b	T	C	16: 93,697,079 (GRCm39)		probably benign	Het
Clstn2	A	G	9: 97,464,505 (GRCm39)		probably benign	Het
Crip1	T	A	12: 113,117,232 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,299,041 (GRCm39)	S3211P	probably benign	Het
Dlx6	C	T	6: 6,865,143 (GRCm39)	R172W	probably damaging	Het
Fktn	A	T	4: 53,747,007 (GRCm39)		probably null	Het
Focad	T	A	4: 88,267,046 (GRCm39)	M1019K	unknown	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Kcna3	A	G	3: 106,944,046 (GRCm39)	D103G	probably damaging	Het
Mrpl19	A	G	6: 81,942,853 (GRCm39)	V19A	probably benign	Het
Ndufb3	T	A	1: 58,634,958 (GRCm39)	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 110,382,779 (GRCm39)	V1675A	possibly damaging	Het
Ptger4	A	T	15: 5,272,614 (GRCm39)	S2T	probably benign	Het
Saxo1	C	T	4: 86,363,809 (GRCm39)	E225K	probably damaging	Het
Sftpb	G	T	6: 72,286,845 (GRCm39)	A228S	probably benign	Het
Slc22a29	T	A	19: 8,138,993 (GRCm39)	T490S	probably benign	Het
Slc29a1	T	C	17: 45,900,918 (GRCm39)	N50S	probably damaging	Het
Smc6	T	A	12: 11,351,532 (GRCm39)	S854T	probably benign	Het
Tas2r134	T	C	2: 51,518,100 (GRCm39)	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,658 (GRCm39)		probably null	Het
Trav13n-4	T	G	14: 53,601,423 (GRCm39)	V64G	possibly damaging	Het
Trmt10a	G	A	3: 137,853,177 (GRCm39)	E13K	probably damaging	Het
Txndc11	T	C	16: 10,922,496 (GRCm39)	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,804,077 (GRCm39)	N442K	probably benign	Het
Vps13a	C	T	19: 16,712,078 (GRCm39)		probably null	Het

Other mutations in Smim23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00563:Smim23	APN	11	32,771,893 (GRCm39)	missense	probably benign	0.11
IGL02800:Smim23	APN	11	32,774,424 (GRCm39)	critical splice donor site	probably null
IGL02931:Smim23	APN	11	32,770,667 (GRCm39)	missense	probably damaging	1.00
R1913:Smim23	UTSW	11	32,774,441 (GRCm39)	missense	possibly damaging	0.83
R2228:Smim23	UTSW	11	32,771,870 (GRCm39)	missense	probably damaging	0.98
R4698:Smim23	UTSW	11	32,774,510 (GRCm39)	missense	possibly damaging	0.86
R5828:Smim23	UTSW	11	32,770,592 (GRCm39)	nonsense	probably null
R7400:Smim23	UTSW	11	32,774,471 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16