Mutagenetix > Incidental Mutation

Incidental Mutation 'R9037:Mal2'

687492

Institutional Source

Beutler Lab

Gene Symbol

Mal2

Ensembl Gene

ENSMUSG00000024479

Gene Name

mal, T cell differentiation protein 2

Synonyms

MMRRC Submission

068969-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R9037 (G1)

Quality Score

208.009

Status

Validated

Chromosome

Chromosomal Location

54434762-54466242 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54434939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 12 (N12S)

Ref Sequence

ENSEMBL: ENSMUSP00000025356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025356]

AlphaFold

Q8BI08

Predicted Effect

unknown
Transcript: ENSMUST00000025356
AA Change: N12S

SMART Domains

Protein: ENSMUSP00000025356
Gene: ENSMUSG00000024479
AA Change: N12S

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Pfam:MARVEL	30	168	4.4e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	T	A	18: 61,952,066 (GRCm39)	I432F	probably benign	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Adcy1	A	G	11: 7,087,325 (GRCm39)	T400A	possibly damaging	Het
Afap1l2	A	T	19: 56,918,403 (GRCm39)		probably benign	Het
Anapc4	C	A	5: 53,021,843 (GRCm39)	Q642K	probably benign	Het
Ano8	A	G	8: 71,937,088 (GRCm39)	F160S	probably damaging	Het
Apob	T	C	12: 8,066,501 (GRCm39)	V4490A	probably benign	Het
Bcar1	A	C	8: 112,447,522 (GRCm39)	F152V	probably benign	Het
Cacna2d2	A	G	9: 107,386,395 (GRCm39)	D174G	probably benign	Het
Capn11	T	C	17: 45,950,357 (GRCm39)	K328R	probably benign	Het
Colq	C	A	14: 31,279,744 (GRCm39)		probably benign	Het
Coro1a	A	C	7: 126,299,772 (GRCm39)	M350R	probably benign	Het
Ctbp1	T	A	5: 33,424,352 (GRCm39)	M24L	probably benign	Het
Cyp2c55	T	A	19: 39,030,537 (GRCm39)	F456L	probably damaging	Het
Dnah5	A	T	15: 28,248,104 (GRCm39)	K747M	probably benign	Het
Efcab3	A	G	11: 104,803,791 (GRCm39)	D3048G	unknown	Het
Esp36	C	T	17: 38,729,840 (GRCm39)	G60D	unknown	Het
Gast	A	G	11: 100,227,436 (GRCm39)	E43G	probably damaging	Het
Gm5849	T	G	3: 90,685,155 (GRCm39)	N10T	probably benign	Het
Gulp1	T	C	1: 44,793,524 (GRCm39)	S62P	probably benign	Het
Hectd1	T	C	12: 51,832,665 (GRCm39)	D903G	possibly damaging	Het
Hk2	T	A	6: 82,720,339 (GRCm39)	I201F	probably benign	Het
Ifna2	T	C	4: 88,601,664 (GRCm39)	D118G	probably benign	Het
Ift172	T	C	5: 31,420,400 (GRCm39)	K1079E	possibly damaging	Het
Igsf9	T	C	1: 172,312,081 (GRCm39)	V9A	probably benign	Het
Ints2	G	A	11: 86,106,530 (GRCm39)	T960I	probably benign	Het
Klk12	T	C	7: 43,419,139 (GRCm39)	W35R	probably damaging	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Macf1	T	C	4: 123,365,518 (GRCm39)	N3081S	probably benign	Het
Mgat1	T	G	11: 49,152,256 (GRCm39)	N246K	probably damaging	Het
Mpeg1	T	A	19: 12,439,190 (GRCm39)	V216E	probably damaging	Het
Mpo	A	G	11: 87,688,557 (GRCm39)		probably benign	Het
Mtmr9	T	A	14: 63,761,532 (GRCm39)	T541S	possibly damaging	Het
Or4a73	C	T	2: 89,421,051 (GRCm39)	R136Q	probably benign	Het
Or51b6b	T	A	7: 103,310,382 (GRCm39)	H25L	probably benign	Het
Or5ak25	T	C	2: 85,269,139 (GRCm39)	D121G	possibly damaging	Het
Or8k3	G	T	2: 86,059,042 (GRCm39)	T91K	probably benign	Het
P2rx6	A	G	16: 17,388,307 (GRCm39)	T328A	possibly damaging	Het
Pcdhb12	A	C	18: 37,569,229 (GRCm39)	E125A	probably benign	Het
Pde3a	C	A	6: 141,416,832 (GRCm39)	Q569K	probably damaging	Het
Pepd	A	T	7: 34,720,398 (GRCm39)	Q227L	probably benign	Het
Piezo2	T	A	18: 63,225,902 (GRCm39)	E911D	probably benign	Het
Pnpla6	A	T	8: 3,592,379 (GRCm39)	R1241*	probably null	Het
Pold1	T	C	7: 44,188,339 (GRCm39)	D513G	probably damaging	Het
Polr1d	A	T	5: 147,015,490 (GRCm39)	I58L	probably benign	Het
Ppif	T	C	14: 25,694,828 (GRCm39)	L58P	probably damaging	Het
Preb	T	C	5: 31,116,590 (GRCm39)	K101R	probably benign	Het
Psma8	G	T	18: 14,854,251 (GRCm39)	V44L	probably benign	Het
Ptf1a	A	G	2: 19,451,036 (GRCm39)	Y122C	possibly damaging	Het
Ranbp6	T	C	19: 29,790,317 (GRCm39)	T12A	probably benign	Het
Rasal3	C	A	17: 32,614,094 (GRCm39)	R587L	probably benign	Het
Rnf146	T	C	10: 29,223,676 (GRCm39)	K70R	probably benign	Het
Serpinb6b	G	T	13: 33,161,998 (GRCm39)	E266*	probably null	Het
Slc15a2	A	T	16: 36,582,725 (GRCm39)	M252K	probably benign	Het
Slc2a1	T	C	4: 118,993,494 (GRCm39)	F444L	probably damaging	Het
Sox9	A	G	11: 112,675,650 (GRCm39)	S280G	probably damaging	Het
Spata31e4	A	G	13: 50,856,944 (GRCm39)	K861E	probably benign	Het
Trappc8	A	G	18: 20,961,539 (GRCm39)	V1243A	probably benign	Het
Trpv2	A	T	11: 62,475,231 (GRCm39)	T215S	probably damaging	Het
Ttc39a	A	G	4: 109,299,981 (GRCm39)	E490G	probably damaging	Het
Ush2a	A	T	1: 187,995,487 (GRCm39)	D86V	possibly damaging	Het
Usp24	A	G	4: 106,236,251 (GRCm39)	T980A	probably damaging	Het
Vwa7	T	C	17: 35,236,268 (GRCm39)	V74A	probably benign	Het
Zan	A	G	5: 137,452,578 (GRCm39)	V1501A	unknown	Het
Zfp105	A	G	9: 122,758,836 (GRCm39)	E169G	possibly damaging	Het
Zfp788	C	T	7: 41,298,315 (GRCm39)	T317I	probably damaging	Het

Other mutations in Mal2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01919:Mal2	APN	15	54,451,728 (GRCm39)	missense	probably damaging	1.00
IGL01960:Mal2	APN	15	54,461,941 (GRCm39)	nonsense	probably null
IGL02647:Mal2	APN	15	54,451,833 (GRCm39)	missense	probably damaging	0.96
R1772:Mal2	UTSW	15	54,451,783 (GRCm39)	missense	probably damaging	0.99
R2015:Mal2	UTSW	15	54,464,136 (GRCm39)	makesense	probably null
R2248:Mal2	UTSW	15	54,451,732 (GRCm39)	missense	probably damaging	1.00
R4496:Mal2	UTSW	15	54,461,835 (GRCm39)	missense	probably damaging	0.96
R6190:Mal2	UTSW	15	54,434,794 (GRCm39)	start gained	probably benign
R6275:Mal2	UTSW	15	54,435,035 (GRCm39)	critical splice donor site	probably null
R6862:Mal2	UTSW	15	54,451,753 (GRCm39)	missense	probably damaging	1.00
R8560:Mal2	UTSW	15	54,461,826 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCTGAAGATCCAGGAGGGC -3'
(R):5'- GGTATTCAGAGGGACCAACC -3'

Sequencing Primer
(F):5'- TGACCCTGACTGTCGCTAG -3'
(R):5'- GGACCAACCCCGGGCTG -3'

Posted On

2021-11-19