Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02638:Laptm4b'

301606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Laptm4b

Ensembl Gene

ENSMUSG00000022257

Gene Name

lysosomal-associated protein transmembrane 4B

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02638

Quality Score

Status

Chromosome

Chromosomal Location

34238028-34284302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34277484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 187 (N187S)

Ref Sequence

ENSEMBL: ENSMUSP00000022867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022867] [ENSMUST00000226437] [ENSMUST00000226627]

AlphaFold

Q91XQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000022867
AA Change: N187S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022867
Gene: ENSMUSG00000022257
AA Change: N187S

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
transmembrane domain	72	94	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
Pfam:Mtp	139	226	6.4e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226437

Predicted Effect

probably benign
Transcript: ENSMUST00000226627

Predicted Effect

unknown
Transcript: ENSMUST00000228547
AA Change: N48S

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	T	9: 22,430,479	K149*	probably null	Het
A830010M20Rik	T	C	5: 107,508,556	V895A	possibly damaging	Het
Alkbh3	T	A	2: 94,008,113	T38S	probably benign	Het
BC055324	G	A	1: 163,959,299	Q734*	probably null	Het
Cdkn2c	A	G	4: 109,665,012		probably benign	Het
Clca4b	A	C	3: 144,926,178	C189G	probably damaging	Het
Clec4f	T	A	6: 83,652,700	N292I	possibly damaging	Het
Dkk3	A	C	7: 112,149,027	S123R	probably benign	Het
Dock1	C	T	7: 135,146,480	A1557V	probably benign	Het
E130308A19Rik	C	T	4: 59,719,676	Q403*	probably null	Het
F5	G	A	1: 164,184,608		probably null	Het
Fam98c	T	A	7: 29,152,762	D326V	probably damaging	Het
Frem2	A	C	3: 53,551,346	V2034G	possibly damaging	Het
Galnt2	G	A	8: 124,231,579	G18D	probably damaging	Het
Gm8394	T	C	10: 85,313,834		noncoding transcript	Het
Grhl3	T	C	4: 135,556,865	E222G	probably benign	Het
Hif3a	A	C	7: 17,044,368		probably benign	Het
Ibtk	C	T	9: 85,719,893	G755D	probably damaging	Het
Lrba	A	G	3: 86,325,073	T776A	probably damaging	Het
Mfhas1	T	A	8: 35,590,950	W860R	possibly damaging	Het
Mon2	A	C	10: 123,023,939	W811G	probably damaging	Het
Nupl2	A	G	5: 24,175,507	T167A	probably benign	Het
Olfr1062	T	C	2: 86,423,677		probably null	Het
Olfr1128	T	C	2: 87,544,749	Y265C	probably damaging	Het
Olfr1295	T	C	2: 111,564,904	D180G	probably damaging	Het
Olfr30	C	A	11: 58,455,047	A301S	probably damaging	Het
Olfr418	A	G	1: 173,270,331	D52G	probably benign	Het
Pgap2	T	C	7: 102,237,422	L217P	probably damaging	Het
Pik3c2b	T	G	1: 133,077,318		probably benign	Het
Ppfia3	T	A	7: 45,356,668	D149V	probably damaging	Het
Prkcb	C	T	7: 122,600,840		probably benign	Het
Prl	A	G	13: 27,061,579	D97G	probably benign	Het
Rnf112	T	C	11: 61,449,405		probably benign	Het
Slc17a8	C	A	10: 89,576,603	G323*	probably null	Het
Snx19	T	C	9: 30,432,364	F607L	possibly damaging	Het
Suco	A	G	1: 161,827,687	S1079P	probably damaging	Het
Taf5	T	C	19: 47,068,210	L149P	probably benign	Het
Taf6l	T	C	19: 8,775,266	M379V	probably benign	Het
Tcf25	T	C	8: 123,399,292	F558L	probably damaging	Het
Tlcd1	T	C	11: 78,179,618	V102A	probably benign	Het
Tmc5	G	T	7: 118,627,233	A274S	probably benign	Het
Toporsl	C	T	4: 52,611,624	H506Y	probably benign	Het
Ubtd1	T	C	19: 42,033,670	L127P	possibly damaging	Het
Usp24	A	C	4: 106,438,770		probably benign	Het
Usp24	C	A	4: 106,438,772		probably benign	Het
Usp43	T	G	11: 67,855,755	D1042A	probably benign	Het
Whrn	T	C	4: 63,419,472	T48A	possibly damaging	Het
Wnt2b	A	G	3: 104,954,716	I102T	probably benign	Het
Zfp763	T	C	17: 33,019,934	D79G	probably benign	Het
Zmat4	A	G	8: 23,797,373	Y45C	probably damaging	Het

Other mutations in Laptm4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Laptm4b	APN	15	34258742	missense	probably benign	0.01
R0609:Laptm4b	UTSW	15	34258689	missense	probably damaging	1.00
R2140:Laptm4b	UTSW	15	34238332	missense	probably benign	0.10
R2142:Laptm4b	UTSW	15	34238332	missense	probably benign	0.10
R5907:Laptm4b	UTSW	15	34258684	missense	possibly damaging	0.59
R6275:Laptm4b	UTSW	15	34283327	missense	probably benign	0.12
R7749:Laptm4b	UTSW	15	34276200	missense	probably benign	0.21
R8208:Laptm4b	UTSW	15	34277445	missense	probably damaging	1.00
R8711:Laptm4b	UTSW	15	34277502	missense	probably damaging	1.00
R8755:Laptm4b	UTSW	15	34273274	missense	probably damaging	1.00
R8770:Laptm4b	UTSW	15	34258697	missense	possibly damaging	0.94

Posted On

2015-04-16