Mutagenetix > Incidental Mutation

Incidental Mutation 'R4254:Smim29'

321751

Institutional Source

Beutler Lab

Gene Symbol

Smim29

Ensembl Gene

ENSMUSG00000062753

Gene Name

small integral membrane protein 29

Synonyms

AI413582

MMRRC Submission

041067-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R4254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27782743-27784706 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 27784696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080190] [ENSMUST00000114888] [ENSMUST00000117254] [ENSMUST00000117600] [ENSMUST00000118570] [ENSMUST00000118599] [ENSMUST00000119486] [ENSMUST00000154473] [ENSMUST00000145183] [ENSMUST00000231358] [ENSMUST00000231796] [ENSMUST00000231243] [ENSMUST00000231825] [ENSMUST00000231866] [ENSMUST00000231874] [ENSMUST00000231780] [ENSMUST00000231753] [ENSMUST00000232276] [ENSMUST00000232253] [ENSMUST00000232203] [ENSMUST00000232265] [ENSMUST00000232013] [ENSMUST00000231948] [ENSMUST00000232552]

AlphaFold

Q8R043

Predicted Effect

probably benign
Transcript: ENSMUST00000080190

SMART Domains

Protein: ENSMUSP00000079081
Gene: ENSMUSG00000062753

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114888

SMART Domains

Protein: ENSMUSP00000110538
Gene: ENSMUSG00000046711

Domain	Start	End	E-Value	Type
AT_hook	23	35	1.34e0	SMART
AT_hook	44	56	1.86e0	SMART
AT_hook	70	82	1.03e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117254

SMART Domains

Protein: ENSMUSP00000113011
Gene: ENSMUSG00000046711

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117600

SMART Domains

Protein: ENSMUSP00000113068
Gene: ENSMUSG00000046711

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118570

SMART Domains

Protein: ENSMUSP00000114101
Gene: ENSMUSG00000046711

Domain	Start	End	E-Value	Type
AT_hook	23	35	1.34e0	SMART
AT_hook	44	56	1.86e0	SMART
AT_hook	70	82	1.03e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118599

SMART Domains

Protein: ENSMUSP00000113015
Gene: ENSMUSG00000046711

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119486

SMART Domains

Protein: ENSMUSP00000113916
Gene: ENSMUSG00000046711

Domain	Start	End	E-Value	Type
AT_hook	23	35	2.69e0	SMART
AT_hook	55	67	1.86e0	SMART
AT_hook	81	93	1.03e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138728

Predicted Effect

probably null
Transcript: ENSMUST00000154473

SMART Domains

Protein: ENSMUSP00000116199
Gene: ENSMUSG00000062753

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
low complexity region	63	74	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000145183

Predicted Effect

probably benign
Transcript: ENSMUST00000231358

Predicted Effect

probably benign
Transcript: ENSMUST00000231796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231648

Predicted Effect

probably benign
Transcript: ENSMUST00000231243

Predicted Effect

probably benign
Transcript: ENSMUST00000231825

Predicted Effect

probably benign
Transcript: ENSMUST00000231866

Predicted Effect

probably benign
Transcript: ENSMUST00000231874

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231365

Predicted Effect

probably benign
Transcript: ENSMUST00000231780

Predicted Effect

probably null
Transcript: ENSMUST00000231753

Predicted Effect

probably null
Transcript: ENSMUST00000232276

Predicted Effect

probably benign
Transcript: ENSMUST00000232253

Predicted Effect

probably null
Transcript: ENSMUST00000232203

Predicted Effect

probably benign
Transcript: ENSMUST00000232265

Predicted Effect

probably benign
Transcript: ENSMUST00000232013

Predicted Effect

probably benign
Transcript: ENSMUST00000231948

Predicted Effect

probably benign
Transcript: ENSMUST00000232552

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg1	T	G	8: 95,732,530 (GRCm39)		probably null	Het
Adgrg2	T	G	X: 159,265,404 (GRCm39)	S551R	possibly damaging	Het
Anapc2	T	C	2: 25,163,357 (GRCm39)	V198A	probably benign	Het
Asxl3	T	C	18: 22,657,423 (GRCm39)	I1811T	possibly damaging	Het
Atp5mc3	A	C	2: 73,740,319 (GRCm39)		probably benign	Het
Ccdc27	A	C	4: 154,123,976 (GRCm39)	S186A	unknown	Het
Ccdc28a	A	G	10: 18,100,683 (GRCm39)	L48P	probably damaging	Het
Cdh19	C	T	1: 110,852,760 (GRCm39)	A392T	probably damaging	Het
Cfap65	T	C	1: 74,942,517 (GRCm39)	D1679G	probably benign	Het
Copa	C	T	1: 171,929,811 (GRCm39)	R293C	probably damaging	Het
Depdc1a	A	G	3: 159,204,124 (GRCm39)	R58G	probably damaging	Het
Dnah5	T	A	15: 28,438,248 (GRCm39)	S3960T	probably benign	Het
Dsg4	A	T	18: 20,604,595 (GRCm39)	T1021S	probably benign	Het
Hrh1	T	A	6: 114,456,962 (GRCm39)	M81K	probably damaging	Het
Ipo11	G	A	13: 107,029,017 (GRCm39)	T312I	probably benign	Het
Itgb2l	T	C	16: 96,231,777 (GRCm39)	N330D	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kcnb1	A	G	2: 166,947,651 (GRCm39)	I399T	probably damaging	Het
Muc13	G	A	16: 33,636,221 (GRCm39)	M568I	probably benign	Het
Nlrp1a	A	C	11: 71,013,854 (GRCm39)	Y465*	probably null	Het
Nwd2	G	A	5: 63,963,889 (GRCm39)	V1158I	possibly damaging	Het
Or2h1b	A	G	17: 37,462,530 (GRCm39)	I111T	possibly damaging	Het
Or5d14	C	T	2: 87,880,123 (GRCm39)	V282I	possibly damaging	Het
Or8b101	T	A	9: 38,020,546 (GRCm39)	L183H	probably damaging	Het
Ptprr	T	A	10: 115,998,348 (GRCm39)		probably null	Het
Rasd2	G	A	8: 75,948,538 (GRCm39)	E155K	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Serinc3	T	A	2: 163,478,888 (GRCm39)	M80L	probably benign	Het
Sf1	T	C	19: 6,421,677 (GRCm39)	V140A	probably damaging	Het
Slc15a2	A	T	16: 36,574,852 (GRCm39)	V519E	probably benign	Het
Slc16a10	A	G	10: 39,952,997 (GRCm39)	Y166H	probably damaging	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Tmbim1	C	A	1: 74,333,090 (GRCm39)	V92F	probably damaging	Het
Vsig4	C	A	X: 95,334,107 (GRCm39)	R134L	probably benign	Het

Other mutations in Smim29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0938:Smim29	UTSW	17	27,783,368 (GRCm39)	missense	possibly damaging	0.69
R3715:Smim29	UTSW	17	27,785,043 (GRCm39)	unclassified	probably benign
R4731:Smim29	UTSW	17	27,784,244 (GRCm39)	unclassified	probably benign
R4732:Smim29	UTSW	17	27,784,244 (GRCm39)	unclassified	probably benign
R9015:Smim29	UTSW	17	27,783,223 (GRCm39)	missense	probably benign	0.01
Z1088:Smim29	UTSW	17	27,783,215 (GRCm39)	missense	possibly damaging	0.94
Z1177:Smim29	UTSW	17	27,783,619 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTAGGATGCTGCTGGC -3'
(R):5'- CAGAAAGGAATGAGGCCCTC -3'

Sequencing Primer
(F):5'- TGGGCAGATGGTTCCCAG -3'
(R):5'- AACCAGTCGCCAGGATCCTG -3'

Posted On

2015-06-20