Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00517:Smim22'

332543

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smim22

Ensembl Gene

ENSMUSG00000096215

Gene Name

small integral membrane protein 22

Synonyms

Gm5480

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL00517

Quality Score

Status

Chromosome

Chromosomal Location

4825152-4826173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4825860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 54 (L54P)

Ref Sequence

ENSEMBL: ENSMUSP00000139067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023191] [ENSMUST00000090453] [ENSMUST00000178155] [ENSMUST00000184439] [ENSMUST00000185147] [ENSMUST00000184256] [ENSMUST00000201077] [ENSMUST00000202281]

AlphaFold

J3QP37

Predicted Effect

probably benign
Transcript: ENSMUST00000023191

SMART Domains

Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	298	9.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090453

SMART Domains

Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	210	1.2e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178155
AA Change: L54P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137083
Gene: ENSMUSG00000096215
AA Change: L54P

Domain	Start	End	E-Value	Type
Pfam:DUF4713	10	65	5.1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183821

Predicted Effect

probably damaging
Transcript: ENSMUST00000184439
AA Change: L54P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139370
Gene: ENSMUSG00000096215
AA Change: L54P

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185147
AA Change: L54P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139067
Gene: ENSMUSG00000096215
AA Change: L54P

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000184256

SMART Domains

Protein: ENSMUSP00000138990
Gene: ENSMUSG00000096215

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201651

Predicted Effect

probably benign
Transcript: ENSMUST00000201077

SMART Domains

Protein: ENSMUSP00000144166
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	12	134	7.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202281

SMART Domains

Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	276	4.4e-49	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	C	T	7: 101,037,256 (GRCm39)	R180W	probably damaging	Het
Atg4a	T	A	X: 139,945,488 (GRCm39)	M345K	probably damaging	Het
Cacna1s	T	C	1: 136,015,077 (GRCm39)	V408A	probably damaging	Het
Ccdc141	C	T	2: 76,884,988 (GRCm39)	G551D	probably damaging	Het
Cdh2	A	C	18: 16,760,693 (GRCm39)	V558G	possibly damaging	Het
Col9a1	T	A	1: 24,234,615 (GRCm39)		probably benign	Het
Fbxo15	T	A	18: 84,977,225 (GRCm39)	F46I	probably damaging	Het
Gdpd4	T	C	7: 97,653,478 (GRCm39)	I497T	probably damaging	Het
Gtf2f2	A	G	14: 76,232,941 (GRCm39)	V75A	probably benign	Het
Hpse	T	C	5: 100,839,196 (GRCm39)	H384R	possibly damaging	Het
Lama2	T	A	10: 27,073,326 (GRCm39)	T1044S	probably benign	Het
Lamp2	T	C	X: 37,545,186 (GRCm39)		probably benign	Het
Lipe	C	A	7: 25,087,985 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,933,606 (GRCm39)	E1594G	possibly damaging	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Patj	G	T	4: 98,329,308 (GRCm39)	V521F	possibly damaging	Het
Prkg1	A	T	19: 30,872,068 (GRCm39)	D242E	probably benign	Het
Qsox2	T	C	2: 26,112,267 (GRCm39)	I92V	probably benign	Het
Rasgrf1	T	C	9: 89,852,534 (GRCm39)	Y367H	probably damaging	Het
Rpl21-ps4	T	C	14: 11,227,544 (GRCm38)		noncoding transcript	Het
Sigirr	T	C	7: 140,672,147 (GRCm39)	E266G	probably benign	Het
Slitrk6	T	C	14: 110,988,547 (GRCm39)	T387A	probably benign	Het
Taf4	G	A	2: 179,566,206 (GRCm39)		probably benign	Het
Trappc14	A	G	5: 138,259,967 (GRCm39)	V363A	possibly damaging	Het
Zswim3	T	C	2: 164,663,011 (GRCm39)	L497S	probably damaging	Het

Other mutations in Smim22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1412:Smim22	UTSW	16	4,825,649 (GRCm39)	missense	possibly damaging	0.95
R4556:Smim22	UTSW	16	4,825,730 (GRCm39)	missense	possibly damaging	0.92
R4890:Smim22	UTSW	16	4,825,722 (GRCm39)	missense	probably damaging	0.99
R7957:Smim22	UTSW	16	4,826,089 (GRCm39)	missense	probably damaging	1.00
Z1177:Smim22	UTSW	16	4,825,224 (GRCm39)	unclassified	probably benign

Posted On

2015-08-05