Mutagenetix > Incidental Mutation

Incidental Mutation 'R4105:Smim13'

321365

Institutional Source

Beutler Lab

Gene Symbol

Smim13

Ensembl Gene

ENSMUSG00000091264

Gene Name

small integral membrane protein 13

Synonyms

2900036K02Rik, BC024659

MMRRC Submission

040985-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4105 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41403320-41430053 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41426127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 54 (D54E)

Ref Sequence

ENSEMBL: ENSMUSP00000130956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163881] [ENSMUST00000165561]

AlphaFold

E9Q942

Predicted Effect

probably benign
Transcript: ENSMUST00000163881

Predicted Effect

probably benign
Transcript: ENSMUST00000165561
AA Change: D54E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130956
Gene: ENSMUSG00000091264
AA Change: D54E

Domain	Start	End	E-Value	Type
Pfam:DUF4750	1	52	2.2e-24	PFAM

Meta Mutation Damage Score

0.0592

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,647,401 (GRCm39)	S127P	probably benign	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Asb18	T	C	1: 89,896,243 (GRCm39)	S266G	possibly damaging	Het
Atg9a	A	G	1: 75,162,603 (GRCm39)	Y471H	probably damaging	Het
Atosa	A	G	9: 74,916,058 (GRCm39)	Q226R	probably damaging	Het
Bmper	G	A	9: 23,136,059 (GRCm39)	V47I	probably benign	Het
Cel	T	C	2: 28,448,039 (GRCm39)	D329G	probably benign	Het
Ces2f	T	C	8: 105,677,824 (GRCm39)		probably null	Het
Cyp2j7	T	C	4: 96,087,687 (GRCm39)	T408A	possibly damaging	Het
Dchs1	A	C	7: 105,414,347 (GRCm39)	S823A	probably damaging	Het
Dnajb2	G	T	1: 75,213,543 (GRCm39)	E6*	probably null	Het
Eif2b3	G	A	4: 116,938,831 (GRCm39)	G427R	probably damaging	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Fat1	A	G	8: 45,489,888 (GRCm39)	Y3600C	probably damaging	Het
Fbxo10	A	G	4: 45,059,054 (GRCm39)	F228L	probably benign	Het
Fgf7	T	A	2: 125,877,599 (GRCm39)		probably benign	Het
Gm2832	A	T	14: 41,002,856 (GRCm39)	M122L	unknown	Het
Lrrcc1	T	C	3: 14,615,388 (GRCm39)	V73A	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip5	T	C	13: 100,356,247 (GRCm39)	R1123G	probably benign	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Or2o1	A	G	11: 49,051,375 (GRCm39)	H178R	possibly damaging	Het
Pikfyve	A	G	1: 65,229,679 (GRCm39)		probably benign	Het
Pnma8a	T	C	7: 16,695,104 (GRCm39)	S320P	possibly damaging	Het
Polr1a	A	G	6: 71,953,175 (GRCm39)	N1581S	probably damaging	Het
Polrmt	G	T	10: 79,577,567 (GRCm39)	T344K	probably benign	Het
Postn	T	C	3: 54,283,462 (GRCm39)	F514L	probably damaging	Het
Ptprq	G	T	10: 107,408,828 (GRCm39)	T1895N	probably damaging	Het
Slc15a2	G	T	16: 36,602,755 (GRCm39)		probably benign	Het
Slco2a1	T	A	9: 102,945,075 (GRCm39)	L150Q	probably benign	Het
Slco2a1	T	C	9: 102,950,449 (GRCm39)	F347S	probably damaging	Het
Snrnp200	T	A	2: 127,069,936 (GRCm39)	I1027N	probably damaging	Het
Sult6b1	G	T	17: 79,214,291 (GRCm39)	T6N	probably damaging	Het
Tas1r2	G	A	4: 139,387,363 (GRCm39)	R245H	probably benign	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Trank1	T	C	9: 111,181,265 (GRCm39)	I429T	probably damaging	Het
Trip11	G	A	12: 101,860,581 (GRCm39)	R254*	probably null	Het
Vmn2r65	A	G	7: 84,595,691 (GRCm39)	V331A	probably benign	Het
Ypel3	T	C	7: 126,377,265 (GRCm39)	S82P	probably damaging	Het
Zfp128	T	C	7: 12,618,667 (GRCm39)	L55P	probably damaging	Het
Zscan4e	T	C	7: 11,041,437 (GRCm39)	D173G	probably benign	Het

Other mutations in Smim13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0483:Smim13	UTSW	13	41,426,186 (GRCm39)	missense	probably benign	0.03
R1386:Smim13	UTSW	13	41,426,168 (GRCm39)	missense	possibly damaging	0.49
R7877:Smim13	UTSW	13	41,403,650 (GRCm39)	start gained	probably benign
R8314:Smim13	UTSW	13	41,426,110 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCCTTACGTTTGATGTACG -3'
(R):5'- GTAACTTTCAAAGCTAGGTCGC -3'

Sequencing Primer
(F):5'- CTGTAGCATACAATCGACGTTTCAG -3'
(R):5'- TTTCAAAGCTAGGTCGCCACTAAG -3'

Posted On

2015-06-12