Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Smim8'

449148

Institutional Source

Beutler Lab

Gene Symbol

Smim8

Ensembl Gene

ENSMUSG00000028295

Gene Name

small integral membrane protein 8

Synonyms

1810030N24Rik, 2810406B13Rik

MMRRC Submission

043398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5818 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

34768664-34778398 bp(-) (GRCm39)

Type of Mutation

small deletion (4 aa in frame mutation)

DNA Base Change (assembly)

TTTAATGAAGAGCT to TT at 34771261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029972] [ENSMUST00000108131] [ENSMUST00000108132] [ENSMUST00000108133] [ENSMUST00000108134]

AlphaFold

Q9CQQ0

Predicted Effect

probably benign
Transcript: ENSMUST00000029972

SMART Domains

Protein: ENSMUSP00000029972
Gene: ENSMUSG00000028295

Domain	Start	End	E-Value	Type
Pfam:DUF4500	15	96	8.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108131

SMART Domains

Protein: ENSMUSP00000103766
Gene: ENSMUSG00000028295

Domain	Start	End	E-Value	Type
Pfam:DUF4500	10	96	1.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108132

SMART Domains

Protein: ENSMUSP00000103767
Gene: ENSMUSG00000028295

Domain	Start	End	E-Value	Type
Pfam:DUF4500	10	96	1.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108133

SMART Domains

Protein: ENSMUSP00000103768
Gene: ENSMUSG00000028295

Domain	Start	End	E-Value	Type
Pfam:DUF4500	10	96	1.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108134

SMART Domains

Protein: ENSMUSP00000103769
Gene: ENSMUSG00000028295

Domain	Start	End	E-Value	Type
Pfam:DUF4500	10	96	1.1e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139922

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147396

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cps1	A	T	1: 67,205,647 (GRCm39)	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dgat1	G	A	15: 76,386,407 (GRCm39)		probably benign	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gabrd	G	A	4: 155,472,818 (GRCm39)	P122S	probably damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kash5	C	T	7: 44,843,383 (GRCm39)		probably null	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Sohlh2	A	G	3: 55,097,922 (GRCm39)	T125A	probably damaging	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Tsku	T	C	7: 98,001,305 (GRCm39)	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het
Zscan26	A	G	13: 21,629,931 (GRCm39)	S65P	probably benign	Het

Other mutations in Smim8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Smim8	APN	4	34,769,006 (GRCm39)	missense	probably benign	0.03
R1959:Smim8	UTSW	4	34,771,316 (GRCm39)	missense	probably damaging	1.00
R5702:Smim8	UTSW	4	34,771,261 (GRCm39)	small deletion	probably benign
R5783:Smim8	UTSW	4	34,771,261 (GRCm39)	small deletion	probably benign
R5800:Smim8	UTSW	4	34,771,261 (GRCm39)	small deletion	probably benign
R5819:Smim8	UTSW	4	34,771,261 (GRCm39)	small deletion	probably benign
R5821:Smim8	UTSW	4	34,771,261 (GRCm39)	small deletion	probably benign
R5821:Smim8	UTSW	4	34,771,259 (GRCm39)	small deletion	probably benign
R5915:Smim8	UTSW	4	34,769,010 (GRCm39)	small deletion	probably benign
R8913:Smim8	UTSW	4	34,769,056 (GRCm39)	missense	possibly damaging	0.50
R9762:Smim8	UTSW	4	34,771,265 (GRCm39)	missense	probably damaging	0.99
R9775:Smim8	UTSW	4	34,769,068 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGTTTTCCATGTGACAGAGC -3'
(R):5'- CACAGAGAAACCCTGTCTCG -3'

Sequencing Primer
(F):5'- TTCTAAGACAGGTTATAGCCCCAGG -3'
(R):5'- TTTGAAAACCCAGGCCTC -3'

Posted On

2016-12-20