Mutagenetix > Incidental Mutation

Incidental Mutation 'R4621:Gltp'

346137

Institutional Source

Beutler Lab

Gene Symbol

Gltp

Ensembl Gene

ENSMUSG00000011884

Gene Name

glycolipid transfer protein

Synonyms

1110001F24Rik

MMRRC Submission

041886-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R4621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114807551-114828996 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114812188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 106 (R106Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107831 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012028] [ENSMUST00000112212] [ENSMUST00000112214]

AlphaFold

Q9JL62

Predicted Effect

probably damaging
Transcript: ENSMUST00000012028
AA Change: R125Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000012028
Gene: ENSMUSG00000011884
AA Change: R125Q

Domain	Start	End	E-Value	Type
Pfam:GLTP	16	169	4.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112212
AA Change: R106Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107831
Gene: ENSMUSG00000011884
AA Change: R106Q

Domain	Start	End	E-Value	Type
Pfam:GLTP	16	83	6e-18	PFAM
Pfam:GLTP	79	150	3.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112214
AA Change: R95Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107833
Gene: ENSMUSG00000011884
AA Change: R95Q

Domain	Start	End	E-Value	Type
Pfam:GLTP	16	80	2.1e-16	PFAM
Pfam:GLTP	72	139	9.4e-18	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (90/90)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to bovine and porcine proteins which accelerate transfer of certain glycosphingolipids and glyceroglycolipids between membranes. It is thought to be a cytoplasmic protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 78,975,235 (GRCm39)	Y142H	probably damaging	Het
Abra	C	T	15: 41,732,620 (GRCm39)	D149N	probably benign	Het
Acin1	A	T	14: 54,890,900 (GRCm39)		probably benign	Het
Adap2	T	A	11: 80,064,899 (GRCm39)		probably null	Het
Afdn	A	G	17: 14,109,082 (GRCm39)	E1535G	probably damaging	Het
Ajm1	G	A	2: 25,468,412 (GRCm39)	P500S	probably damaging	Het
Ak9	A	G	10: 41,282,887 (GRCm39)	N1218D	possibly damaging	Het
Angptl1	G	A	1: 156,672,494 (GRCm39)	V107M	probably damaging	Het
Arhgap26	G	A	18: 39,032,894 (GRCm39)		probably benign	Het
Cage1	A	C	13: 38,209,477 (GRCm39)	S61A	possibly damaging	Het
Cdadc1	T	C	14: 59,824,004 (GRCm39)	T163A	probably benign	Het
Celsr2	A	T	3: 108,302,532 (GRCm39)	V2568D	possibly damaging	Het
Cep44	G	A	8: 56,995,951 (GRCm39)	T166M	probably damaging	Het
Cnksr3	T	C	10: 7,076,182 (GRCm39)	K187E	possibly damaging	Het
Cyp20a1	A	G	1: 60,415,258 (GRCm39)	T295A	probably benign	Het
Dus2	T	A	8: 106,757,074 (GRCm39)	M88K	probably damaging	Het
E330034G19Rik	A	T	14: 24,346,070 (GRCm39)		probably benign	Het
Ecrg4	G	A	1: 43,776,412 (GRCm39)		probably null	Het
Efna5	T	C	17: 62,958,040 (GRCm39)	D72G	probably benign	Het
Epb41l2	T	C	10: 25,378,038 (GRCm39)		probably null	Het
Espn	A	G	4: 152,215,709 (GRCm39)	S408P	probably damaging	Het
Evi5l	T	C	8: 4,252,909 (GRCm39)		probably benign	Het
F830016B08Rik	G	A	18: 60,433,939 (GRCm39)	V341I	probably benign	Het
Flii	A	G	11: 60,606,937 (GRCm39)	L1013P	possibly damaging	Het
Fndc10	G	A	4: 155,779,264 (GRCm39)	V103M	probably damaging	Het
Frem3	T	A	8: 81,395,820 (GRCm39)		probably null	Het
Gtf3c3	A	G	1: 54,458,575 (GRCm39)	Y449H	probably damaging	Het
H1f9	G	A	11: 94,858,986 (GRCm39)	V94M	probably damaging	Het
Hmga1b	T	C	11: 120,653,866 (GRCm39)	V51A	probably damaging	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Igkv13-84	T	C	6: 68,916,783 (GRCm39)	S27P	possibly damaging	Het
Il15ra	A	G	2: 11,723,140 (GRCm39)	N55D	possibly damaging	Het
Kctd19	T	G	8: 106,123,103 (GRCm39)	N104H	probably damaging	Het
Kif27	T	G	13: 58,478,827 (GRCm39)	D572A	probably benign	Het
Larp1b	G	A	3: 40,918,424 (GRCm39)	G22R	possibly damaging	Het
Lcn2	A	T	2: 32,274,655 (GRCm39)		probably benign	Het
Lmtk2	T	A	5: 144,111,752 (GRCm39)	I824N	probably benign	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mcoln1	A	G	8: 3,555,923 (GRCm39)	I73V	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mycbp2	G	T	14: 103,457,415 (GRCm39)	T1627K	probably benign	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ndufaf5	A	G	2: 140,025,845 (GRCm39)	T135A	probably benign	Het
Neb	G	A	2: 52,161,051 (GRCm39)	Q2207*	probably null	Het
Nek3	T	C	8: 22,647,055 (GRCm39)	Y160C	probably damaging	Het
Or2y6	G	C	11: 52,104,706 (GRCm39)	L37V	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Osbpl8	A	G	10: 111,105,279 (GRCm39)	I245V	probably benign	Het
Pcdh9	T	C	14: 94,125,079 (GRCm39)	I241V	probably benign	Het
Pcdhb12	A	G	18: 37,570,213 (GRCm39)	Q453R	probably benign	Het
Pcdhb2	A	G	18: 37,428,980 (GRCm39)	T318A	probably benign	Het
Prlr	T	A	15: 10,319,462 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,001,453 (GRCm39)	A1181V	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rap1gap2	A	G	11: 74,326,525 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,631,345 (GRCm39)	V244A	probably damaging	Het
Rexo5	T	G	7: 119,418,722 (GRCm39)	I254R	probably benign	Het
Robo2	A	T	16: 73,782,821 (GRCm39)	S316T	probably benign	Het
Satb2	A	T	1: 56,884,778 (GRCm39)	V382E	probably damaging	Het
Scg2	C	T	1: 79,414,381 (GRCm39)	R114Q	probably benign	Het
Scube2	T	C	7: 109,399,857 (GRCm39)	D893G	possibly damaging	Het
Snrpn	T	C	7: 59,637,274 (GRCm39)	D14G	possibly damaging	Het
Spag17	A	G	3: 100,010,559 (GRCm39)	T2018A	probably benign	Het
Spata9	T	G	13: 76,116,001 (GRCm39)	F17V	possibly damaging	Het
Supt6	A	G	11: 78,103,572 (GRCm39)	Y1378H	possibly damaging	Het
Thsd7b	T	C	1: 129,358,652 (GRCm39)	S29P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,227,905 (GRCm39)	S81P	probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Trbj2-4	T	A	6: 41,520,308 (GRCm39)		probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Vmn1r82	A	G	7: 12,039,263 (GRCm39)	T179A	possibly damaging	Het
Yipf7	T	A	5: 69,676,704 (GRCm39)	Q145L	possibly damaging	Het

Other mutations in Gltp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02987:Gltp	APN	5	114,812,243 (GRCm39)	missense	probably benign	0.32
R5163:Gltp	UTSW	5	114,812,122 (GRCm39)	missense	probably benign	0.04
R6328:Gltp	UTSW	5	114,808,572 (GRCm39)	missense	possibly damaging	0.60
R7514:Gltp	UTSW	5	114,808,521 (GRCm39)	missense	probably benign	0.00
R7819:Gltp	UTSW	5	114,812,161 (GRCm39)	missense	probably benign
R9629:Gltp	UTSW	5	114,814,382 (GRCm39)	missense	probably benign
R9716:Gltp	UTSW	5	114,808,470 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- ACACTAAGGAGCACTGGCAG -3'
(R):5'- TCATCCCATGGCTTAGGGAC -3'

Sequencing Primer
(F):5'- ACAAGCAGGGTTGGCCAC -3'
(R):5'- TTAGGGACCTAGGCTGCCTAAG -3'

Posted On

2015-09-25