Mutagenetix > Incidental Mutation

Incidental Mutation 'R1412:Smim22'

159651

Institutional Source

Beutler Lab

Gene Symbol

Smim22

Ensembl Gene

ENSMUSG00000096215

Gene Name

small integral membrane protein 22

Synonyms

Gm5480

MMRRC Submission

039468-MU

Accession Numbers

Essential gene?

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

Stock #

R1412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4825152-4826173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 4825649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 11 (E11D)

Ref Sequence

ENSEMBL: ENSMUSP00000139067 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000178155
AA Change: E11D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137083
Gene: ENSMUSG00000096215
AA Change: E11D

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

possibly damaging
Transcript: ENSMUST00000184439
AA Change: E11D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139370
Gene: ENSMUSG00000096215
AA Change: E11D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185147
AA Change: E11D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139067
Gene: ENSMUSG00000096215
AA Change: E11D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202720

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: ENSMUST00000184256

SMART Domains

Protein: ENSMUSP00000138990
Gene: ENSMUSG00000096215

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

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

Meta Mutation Damage Score

0.0654

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.4%
20x: 86.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,359 (GRCm39)		probably benign	Het
Abca15	C	T	7: 119,944,546 (GRCm39)	R394C	possibly damaging	Het
Adamts9	T	C	6: 92,773,414 (GRCm39)	Q1152R	probably benign	Het
Adgrv1	C	T	13: 81,243,569 (GRCm39)	G6277E	probably damaging	Het
Agbl2	A	G	2: 90,619,298 (GRCm39)	N41S	probably benign	Het
Akap7	A	T	10: 25,165,495 (GRCm39)		probably null	Het
Arl6ip1	A	G	7: 117,719,591 (GRCm39)	I179T	possibly damaging	Het
Atp1a4	C	T	1: 172,059,576 (GRCm39)	D839N	probably damaging	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
C1qtnf12	T	C	4: 156,047,190 (GRCm39)	V52A	probably benign	Het
C1qtnf2	A	G	11: 43,381,959 (GRCm39)	Y257C	probably damaging	Het
Cdc123	A	T	2: 5,808,776 (GRCm39)	D233E	possibly damaging	Het
Chdh	G	A	14: 29,756,680 (GRCm39)	E369K	probably benign	Het
D630045J12Rik	A	G	6: 38,172,695 (GRCm39)	V491A	probably benign	Het
Focad	T	C	4: 88,196,498 (GRCm39)		probably null	Het
Gabbr1	T	C	17: 37,365,805 (GRCm39)		probably null	Het
Hat1	G	T	2: 71,250,961 (GRCm39)	E170*	probably null	Het
Hs3st5	A	T	10: 36,708,672 (GRCm39)	H69L	probably benign	Het
Igsf10	T	C	3: 59,235,196 (GRCm39)		probably benign	Het
Itga2b	A	T	11: 102,347,831 (GRCm39)	L890Q	probably benign	Het
Or52e8b	A	G	7: 104,673,402 (GRCm39)	F262L	probably damaging	Het
Or7d11	C	G	9: 19,966,711 (GRCm39)	G16A	possibly damaging	Het
Parp10	A	G	15: 76,127,284 (GRCm39)	L51P	probably damaging	Het
Pbld2	A	G	10: 62,883,301 (GRCm39)	T108A	probably damaging	Het
Pdlim2	A	T	14: 70,411,773 (GRCm39)		probably benign	Het
Pikfyve	T	C	1: 65,241,989 (GRCm39)	V243A	possibly damaging	Het
Pla2g12b	G	A	10: 59,239,804 (GRCm39)		probably null	Het
Raly	A	G	2: 154,699,315 (GRCm39)	T40A	possibly damaging	Het
Rasgrp3	G	T	17: 75,816,822 (GRCm39)		probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Socs2	T	C	10: 95,250,780 (GRCm39)	S18G	probably benign	Het
Srgap2	T	C	1: 131,228,151 (GRCm39)	E720G	possibly damaging	Het
Tas2r135	A	G	6: 42,382,768 (GRCm39)	I102M	probably benign	Het
Tex19.2	A	G	11: 121,007,761 (GRCm39)	V229A	possibly damaging	Het
Vmn1r234	T	A	17: 21,449,512 (GRCm39)	I142N	probably benign	Het
Vps35l	A	T	7: 118,409,194 (GRCm39)	I612F	probably damaging	Het
Vwa3a	C	T	7: 120,379,377 (GRCm39)	T494I	probably damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Zfhx3	A	G	8: 109,641,199 (GRCm39)	D1166G	possibly damaging	Het

Other mutations in Smim22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Smim22	APN	16	4,825,860 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- ACTGGAATCAGCTTTGCTGGGGAG -3'
(R):5'- AACAACAGCACAGTGCCTGGAG -3'

Sequencing Primer
(F):5'- CCAGGTCAGGGTCAGTGTG -3'
(R):5'- CAGTGCCTGGAGACCAGAG -3'

Posted On

2014-03-14