Mutagenetix > Incidental Mutation

Incidental Mutation 'R9463:Trarg1'

715016

Institutional Source

Beutler Lab

Gene Symbol

Trarg1

Ensembl Gene

ENSMUSG00000046275

Gene Name

trafficking regulator of GLUT4 (SLC2A4) 1

Synonyms

C130069F04Rik, Tusc5, LOST1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9463 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76570699-76589490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76571098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 38 (L38Q)

Ref Sequence

ENSEMBL: ENSMUSP00000061634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062024]

AlphaFold

Q8C838

Predicted Effect

probably damaging
Transcript: ENSMUST00000062024
AA Change: L38Q

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

SMART Domains

Protein: ENSMUSP00000061634
Gene: ENSMUSG00000046275
AA Change: L38Q

Domain	Start	End	E-Value	Type
Pfam:Dispanin	83	165	3.7e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display abnormal adipocyte glucose uptake and show increased body weight, elevated blood insulin and glucose levels, and insulin resistance when fed a high-fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	C	T	14: 8,256,789 (GRCm38)	E25K	probably damaging	Het
Acss2	A	G	2: 155,392,032 (GRCm39)	Y218C	probably benign	Het
Armc8	C	T	9: 99,378,203 (GRCm39)		probably null	Het
Aspg	G	A	12: 112,089,824 (GRCm39)	G454D	probably damaging	Het
Atp9b	T	C	18: 80,809,051 (GRCm39)	T623A		Het
Cacna1e	A	G	1: 154,357,411 (GRCm39)	L655P	probably damaging	Het
Cant1	T	A	11: 118,302,281 (GRCm39)	N12I	probably damaging	Het
Cep63	T	C	9: 102,475,382 (GRCm39)	T445A	probably benign	Het
Clstn1	A	T	4: 149,698,564 (GRCm39)	D50V	possibly damaging	Het
Cnnm2	T	A	19: 46,750,990 (GRCm39)	I260N	probably damaging	Het
Col4a4	T	C	1: 82,431,076 (GRCm39)	M1609V	unknown	Het
Dand5	A	T	8: 85,542,938 (GRCm39)	C179*	probably null	Het
Dbndd1	A	G	8: 124,233,547 (GRCm39)	L153P	probably damaging	Het
Dnhd1	A	G	7: 105,306,454 (GRCm39)	I437V	probably benign	Het
Dnhd1	T	A	7: 105,344,223 (GRCm39)	S1856T	probably benign	Het
Dpp8	T	A	9: 64,973,700 (GRCm39)	Y641*	probably null	Het
Dthd1	G	A	5: 63,039,626 (GRCm39)	R676H	probably benign	Het
Efl1	C	T	7: 82,426,733 (GRCm39)	T1077M	probably damaging	Het
Eif3e	G	T	15: 43,138,709 (GRCm39)	Q83K	probably benign	Het
Firrm	A	T	1: 163,795,907 (GRCm39)	M428K	probably benign	Het
Gfm2	G	A	13: 97,286,910 (GRCm39)	A170T	probably damaging	Het
Gm14496	T	A	2: 181,642,256 (GRCm39)	H642Q	probably benign	Het
Gmip	G	A	8: 70,269,693 (GRCm39)	R596Q	possibly damaging	Het
Hook1	A	T	4: 95,910,510 (GRCm39)	Q708L	probably damaging	Het
Krtap9-3	G	A	11: 99,488,526 (GRCm39)	R119C	unknown	Het
Lnpk	A	C	2: 74,381,403 (GRCm39)		probably null	Het
Lrp1	G	T	10: 127,429,334 (GRCm39)	Y484*	probably null	Het
Lrrc8e	C	T	8: 4,285,185 (GRCm39)	P470L	probably damaging	Het
Mapre1	A	G	2: 153,606,960 (GRCm39)	N231D	probably benign	Het
Muc5b	T	A	7: 141,405,503 (GRCm39)	N937K	unknown	Het
Ndufaf7	T	C	17: 79,253,900 (GRCm39)		probably null	Het
Nlrp5	A	T	7: 23,118,225 (GRCm39)	I650F	probably benign	Het
Notch1	T	C	2: 26,359,845 (GRCm39)	D1290G	probably benign	Het
Or7g27	C	T	9: 19,250,320 (GRCm39)	A188V	possibly damaging	Het
Or8b46	T	C	9: 38,450,665 (GRCm39)	I158T	probably damaging	Het
Orc4	C	T	2: 48,826,783 (GRCm39)		probably null	Het
Plekhm2	A	G	4: 141,357,949 (GRCm39)	V664A	probably benign	Het
Pom121l2	T	G	13: 22,168,402 (GRCm39)	I891S	probably benign	Het
Prkcsh	T	C	9: 21,923,982 (GRCm39)	Y425H	probably damaging	Het
Prps1l1	A	C	12: 35,035,559 (GRCm39)	T225P	probably damaging	Het
Prr18	T	G	17: 8,560,324 (GRCm39)	V160G	probably damaging	Het
Psd2	T	A	18: 36,143,798 (GRCm39)	F701L	probably damaging	Het
Sclt1	T	C	3: 41,601,931 (GRCm39)	E593G	probably damaging	Het
Sdk1	T	C	5: 141,948,548 (GRCm39)	I631T	probably benign	Het
Sirt1	A	T	10: 63,171,487 (GRCm39)	D231E	probably benign	Het
Slc22a30	C	T	19: 8,378,259 (GRCm39)	C139Y	probably damaging	Het
Sntg1	T	A	1: 8,624,974 (GRCm39)	N274I	probably damaging	Het
Spocd1	A	G	4: 129,847,398 (GRCm39)	Q529R		Het
Trbv3	T	A	6: 41,025,530 (GRCm39)	L40H	probably damaging	Het
Trpm6	T	C	19: 18,761,264 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ush1g	C	A	11: 115,209,056 (GRCm39)	L379F	probably damaging	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Wee1	T	C	7: 109,721,917 (GRCm39)	S121P	probably damaging	Het
Zfp608	T	C	18: 55,030,274 (GRCm39)	K1222R	probably damaging	Het

Other mutations in Trarg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01785:Trarg1	APN	11	76,571,292 (GRCm39)	missense	probably benign	0.07
IGL01786:Trarg1	APN	11	76,571,292 (GRCm39)	missense	probably benign	0.07
R5184:Trarg1	UTSW	11	76,571,134 (GRCm39)	missense	probably damaging	1.00
R5217:Trarg1	UTSW	11	76,585,102 (GRCm39)	missense	possibly damaging	0.57
R6377:Trarg1	UTSW	11	76,571,355 (GRCm39)	missense	probably damaging	1.00
R6703:Trarg1	UTSW	11	76,584,988 (GRCm39)	critical splice acceptor site	probably null
R7421:Trarg1	UTSW	11	76,585,051 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGAAATCTGGACTTGGGGAATG -3'
(R):5'- GGACCAGGTAATCTTTGGGG -3'

Sequencing Primer
(F):5'- AATGGTGTGCTGAGGACCCTC -3'
(R):5'- ACCAGGTAATCTTTGGGGGCTTC -3'

Posted On

2022-06-15