Mutagenetix > Incidental Mutation

Incidental Mutation 'R8711:Laptm4b'

669603

Institutional Source

Beutler Lab

Gene Symbol

Laptm4b

Ensembl Gene

ENSMUSG00000022257

Gene Name

lysosomal-associated protein transmembrane 4B

Synonyms

C330023P13Rik

MMRRC Submission

068565-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8711 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34238279-34284448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34277648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 193 (V193E)

Ref Sequence

ENSEMBL: ENSMUSP00000022867 (fasta)

Gene Model

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

AlphaFold

Q91XQ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000022867
AA Change: V193E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022867
Gene: ENSMUSG00000022257
AA Change: V193E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,969,120 (GRCm39)	S122T	probably benign	Het
Abcb11	G	A	2: 69,095,856 (GRCm39)	T828I	probably damaging	Het
Atp5f1b	T	A	10: 127,921,369 (GRCm39)	N222K	probably damaging	Het
C1qbp	T	C	11: 70,869,313 (GRCm39)	T211A	probably benign	Het
Ccdc85a	A	T	11: 28,384,146 (GRCm39)	S410T	possibly damaging	Het
Chd4	T	A	6: 125,100,485 (GRCm39)		probably benign	Het
Col10a1	G	T	10: 34,270,824 (GRCm39)	K265N	probably damaging	Het
Cyp2j5	A	T	4: 96,529,660 (GRCm39)	M237K	possibly damaging	Het
Cyp4f40	T	C	17: 32,894,962 (GRCm39)		probably benign	Het
Cytip	A	T	2: 58,041,135 (GRCm39)	F90L	probably damaging	Het
Dnah7b	A	G	1: 46,214,598 (GRCm39)	D1121G	probably damaging	Het
Dohh	G	T	10: 81,221,859 (GRCm39)	E84D	probably benign	Het
Efcab3	A	G	11: 104,743,371 (GRCm39)	I2187V	probably benign	Het
Eif1ad19	T	A	12: 87,740,130 (GRCm39)	D143V	unknown	Het
Eif4g2	T	C	7: 110,673,127 (GRCm39)	Y855C	probably damaging	Het
Ell	T	A	8: 71,034,331 (GRCm39)		probably benign	Het
Ermap	T	C	4: 119,044,355 (GRCm39)	Y147C	probably damaging	Het
Fasn	T	C	11: 120,709,944 (GRCm39)	D371G	possibly damaging	Het
Fat2	A	G	11: 55,159,129 (GRCm39)	S3348P	probably benign	Het
Fhad1	T	A	4: 141,684,924 (GRCm39)	N472Y	probably benign	Het
Flad1	A	G	3: 89,316,415 (GRCm39)	V49A	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,554 (GRCm39)	T196A	probably benign	Het
Fsip2	A	G	2: 82,815,246 (GRCm39)	N3660D	possibly damaging	Het
Gabrp	T	A	11: 33,505,023 (GRCm39)	L259F	probably damaging	Het
Gm16686	A	T	4: 88,673,473 (GRCm39)	W119R	unknown	Het
Gng2	C	T	14: 19,941,438 (GRCm39)	M1I	probably null	Het
Hmgxb3	T	C	18: 61,290,721 (GRCm39)	N384S	probably benign	Het
Ibtk	T	C	9: 85,606,208 (GRCm39)	I440V	probably benign	Het
Il11ra1	A	G	4: 41,767,539 (GRCm39)	D297G	probably damaging	Het
Irf2bpl	T	C	12: 86,928,496 (GRCm39)	I726V	probably benign	Het
Klk1b5	A	G	7: 43,867,996 (GRCm39)	N56S	probably benign	Het
Lrrc37a	A	T	11: 103,388,350 (GRCm39)	C2358*	probably null	Het
Ltbp2	C	T	12: 84,900,515 (GRCm39)	S269N	probably benign	Het
Morc2a	T	G	11: 3,630,013 (GRCm39)	Y450D	probably damaging	Het
Mycbp2	A	T	14: 103,407,430 (GRCm39)	I2740K	probably benign	Het
Naif1	T	A	2: 32,344,848 (GRCm39)	V184E	probably damaging	Het
Neurl1b	T	C	17: 26,660,747 (GRCm39)	V540A	probably damaging	Het
Nt5c1b	T	A	12: 10,431,450 (GRCm39)	F451Y	probably damaging	Het
Obox3	A	G	7: 15,360,148 (GRCm39)	S174P	probably benign	Het
Obscn	T	C	11: 58,951,894 (GRCm39)	E3953G	probably damaging	Het
Or4a74	A	C	2: 89,440,291 (GRCm39)	S52A	probably benign	Het
Or4p19	A	T	2: 88,242,595 (GRCm39)	C136S	probably damaging	Het
Pkd1l1	G	A	11: 8,815,550 (GRCm39)	H1904Y		Het
Plec	C	T	15: 76,059,531 (GRCm39)	D3469N	probably benign	Het
Polr1b	A	G	2: 128,943,064 (GRCm39)	T20A	probably damaging	Het
Ppp1r16b	G	A	2: 158,603,286 (GRCm39)	E404K	possibly damaging	Het
Prkce	T	A	17: 86,795,625 (GRCm39)	N287K	probably damaging	Het
Rchy1	C	A	5: 92,105,397 (GRCm39)	C108F	probably damaging	Het
Scpppq1	G	A	5: 104,219,956 (GRCm39)	T78I	unknown	Het
Sema6d	A	G	2: 124,502,232 (GRCm39)	Y572C	possibly damaging	Het
Sh3rf1	T	A	8: 61,783,030 (GRCm39)	I248K	probably damaging	Het
Sin3b	T	C	8: 73,450,026 (GRCm39)	L30P	probably damaging	Het
Slc25a47	G	A	12: 108,820,313 (GRCm39)	G106S	probably damaging	Het
Slc43a2	A	C	11: 75,457,879 (GRCm39)	M385L	probably benign	Het
Slc43a3	A	G	2: 84,768,671 (GRCm39)	T97A	probably damaging	Het
Slc9b2	T	A	3: 135,030,351 (GRCm39)	S223T	probably benign	Het
Smc5	A	T	19: 23,243,058 (GRCm39)	C118S	probably damaging	Het
Smpdl3b	T	C	4: 132,472,491 (GRCm39)	D94G	probably damaging	Het
Spred3	A	G	7: 28,866,086 (GRCm39)	V71A	possibly damaging	Het
Srsf5	T	A	12: 80,994,328 (GRCm39)	S86T	possibly damaging	Het
Sycp2	A	G	2: 177,990,088 (GRCm39)	V1386A	probably benign	Het
Syne2	T	C	12: 76,104,258 (GRCm39)	L743P	probably damaging	Het
Synj1	A	G	16: 90,806,971 (GRCm39)	V62A	probably damaging	Het
Tbc1d9b	T	C	11: 50,047,578 (GRCm39)	L637P	probably damaging	Het
Tcf12	T	G	9: 71,757,097 (GRCm39)	S697R	possibly damaging	Het
Tnfrsf11b	T	A	15: 54,123,508 (GRCm39)	Y31F	possibly damaging	Het
Trav5n-4	T	C	14: 53,550,362 (GRCm39)	M1T	probably null	Het
Trbv13-2	A	G	6: 41,098,716 (GRCm39)	E97G	probably benign	Het
Trpa1	G	A	1: 14,980,998 (GRCm39)	P135S	probably damaging	Het
Ugt1a6a	A	C	1: 88,066,590 (GRCm39)	D132A	possibly damaging	Het
Vmn2r8	A	T	5: 108,945,962 (GRCm39)	D548E	possibly damaging	Het
Zbtb39	A	T	10: 127,578,815 (GRCm39)	D463V	probably damaging	Het
Zc3h12c	C	T	9: 52,037,858 (GRCm39)		probably benign	Het
Zfp952	C	T	17: 33,222,004 (GRCm39)	P161L	possibly damaging	Het

Other mutations in Laptm4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Laptm4b	APN	15	34,258,888 (GRCm39)	missense	probably benign	0.01
IGL02638:Laptm4b	APN	15	34,277,630 (GRCm39)	missense	probably benign	0.06
R0609:Laptm4b	UTSW	15	34,258,835 (GRCm39)	missense	probably damaging	1.00
R2140:Laptm4b	UTSW	15	34,238,478 (GRCm39)	missense	probably benign	0.10
R2142:Laptm4b	UTSW	15	34,238,478 (GRCm39)	missense	probably benign	0.10
R5907:Laptm4b	UTSW	15	34,258,830 (GRCm39)	missense	possibly damaging	0.59
R6275:Laptm4b	UTSW	15	34,283,473 (GRCm39)	missense	probably benign	0.12
R7749:Laptm4b	UTSW	15	34,276,346 (GRCm39)	missense	probably benign	0.21
R8208:Laptm4b	UTSW	15	34,277,591 (GRCm39)	missense	probably damaging	1.00
R8755:Laptm4b	UTSW	15	34,273,420 (GRCm39)	missense	probably damaging	1.00
R8770:Laptm4b	UTSW	15	34,258,843 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CAATACATATAGTACTGCAACATGCA -3'
(R):5'- AAACATGACTTGGCCAGGC -3'

Sequencing Primer
(F):5'- CTTGCAGGGCTACTTGAT -3'
(R):5'- GTGGCAGACACTTTTAATCCCAG -3'

Posted On

2021-04-30