Mutagenetix > Incidental Mutation

Incidental Mutation 'R4734:Slc29a3'

359173

Institutional Source

Beutler Lab

Gene Symbol

Slc29a3

Ensembl Gene

ENSMUSG00000020100

Gene Name

solute carrier family 29 (nucleoside transporters), member 3

Synonyms

4933435C21Rik, Ent3

MMRRC Submission

041961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4734 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60547851-60588573 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60552105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 313 (V313A)

Ref Sequence

ENSEMBL: ENSMUSP00000112685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117513] [ENSMUST00000119595] [ENSMUST00000150845]

AlphaFold

Q99P65

Predicted Effect

probably benign
Transcript: ENSMUST00000117513
AA Change: V313A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000112685
Gene: ENSMUSG00000020100
AA Change: V313A

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
Pfam:Nucleoside_tran	169	473	2.2e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119595

SMART Domains

Protein: ENSMUSP00000112426
Gene: ENSMUSG00000020100

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	107	126	N/A	INTRINSIC
transmembrane domain	133	155	N/A	INTRINSIC
transmembrane domain	165	187	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144989

Predicted Effect

probably benign
Transcript: ENSMUST00000150845

SMART Domains

Protein: ENSMUSP00000119716
Gene: ENSMUSG00000020100

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	117	125	N/A	INTRINSIC
low complexity region	144	155	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lymphadenopathy, splenomegaly, histiocytic sarcoma, and premature death associated with extramedullary hematopoiesis, increased macrophage proliferation and apoptosis and abnormal lysosome function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,603,961 (GRCm39)	M1V	probably null	Het
Abcb11	T	A	2: 69,154,306 (GRCm39)	T87S	possibly damaging	Het
Arap3	A	G	18: 38,129,328 (GRCm39)	V210A	probably benign	Het
Avl9	T	C	6: 56,713,479 (GRCm39)	S246P	probably damaging	Het
Ccdc88a	A	G	11: 29,432,720 (GRCm39)	K222R	probably benign	Het
Cdhr18	T	C	14: 13,845,292 (GRCm38)	N540S	probably benign	Het
Cfap96	A	T	8: 46,423,454 (GRCm39)	M86K	possibly damaging	Het
Chsy3	C	A	18: 59,312,485 (GRCm39)	F319L	probably benign	Het
Coro2b	T	C	9: 62,333,860 (GRCm39)	T345A	probably benign	Het
Cpb1	A	G	3: 20,317,876 (GRCm39)	V216A	probably benign	Het
Cyp2c65	A	G	19: 39,060,778 (GRCm39)	I213V	probably benign	Het
Dcaf15	A	G	8: 84,824,357 (GRCm39)	C586R	probably benign	Het
Ddr2	T	A	1: 169,825,657 (GRCm39)	E314D	probably benign	Het
Dennd5a	C	T	7: 109,495,543 (GRCm39)	R1196H	probably damaging	Het
Dnah9	G	A	11: 65,724,941 (GRCm39)	A4404V	probably damaging	Het
Dpf2	A	G	19: 5,957,027 (GRCm39)		probably null	Het
Eif2ak4	A	T	2: 118,252,568 (GRCm39)	H302L	probably damaging	Het
Eif2d	G	T	1: 131,092,889 (GRCm39)	R399L	probably damaging	Het
Fat2	A	G	11: 55,202,294 (GRCm39)	V260A	probably benign	Het
Fhod3	T	A	18: 25,161,192 (GRCm39)	Y575N	probably benign	Het
Fscb	T	C	12: 64,521,244 (GRCm39)	E74G	possibly damaging	Het
Gdpd2	G	A	X: 99,777,799 (GRCm39)	M243I	possibly damaging	Het
Glra1	C	A	11: 55,427,210 (GRCm39)	D42Y	probably damaging	Het
Gnl2	T	C	4: 124,934,811 (GRCm39)	F156L	probably benign	Het
Gpr37	C	A	6: 25,689,085 (GRCm39)	R4L	possibly damaging	Het
Hectd4	A	T	5: 121,480,040 (GRCm39)	H2892L	possibly damaging	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Htr2c	A	G	X: 145,976,793 (GRCm39)	T163A	probably benign	Het
Impact	T	A	18: 13,118,346 (GRCm39)	H188Q	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lnx2	C	T	5: 146,965,947 (GRCm39)	G391R	probably damaging	Het
Lrrc19	T	C	4: 94,526,586 (GRCm39)	I324V	probably benign	Het
Lrrcc1	G	T	3: 14,627,345 (GRCm39)	Q458H	probably damaging	Het
Maml3	A	T	3: 51,597,296 (GRCm39)	D483E	probably damaging	Het
Mef2c	T	A	13: 83,810,748 (GRCm39)	*467R	probably null	Het
Mms19	T	A	19: 41,932,997 (GRCm39)	S1031C	probably damaging	Het
Myt1l	T	C	12: 29,969,925 (GRCm39)	I143T	possibly damaging	Het
Nuggc	T	C	14: 65,860,679 (GRCm39)	Y426H	probably damaging	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Oog2	T	C	4: 143,923,021 (GRCm39)	S429P	probably benign	Het
Or4d1	T	A	11: 87,805,016 (GRCm39)	T239S	probably damaging	Het
Or51f1	A	G	7: 102,506,186 (GRCm39)	I101T	probably damaging	Het
Or5p1	A	T	7: 107,916,959 (GRCm39)	N286I	probably damaging	Het
Or5p51	T	C	7: 107,444,635 (GRCm39)	I102V	probably benign	Het
Pcnt	T	C	10: 76,273,040 (GRCm39)	D93G	probably benign	Het
Pdia5	A	T	16: 35,276,883 (GRCm39)	M95K	probably benign	Het
Pdzrn4	A	T	15: 92,668,133 (GRCm39)	R762*	probably null	Het
Piezo1	G	T	8: 123,224,945 (GRCm39)	Q654K	probably damaging	Het
Ppil3	A	G	1: 58,470,428 (GRCm39)	Y141H	probably benign	Het
Prb1c	T	A	6: 132,338,891 (GRCm39)	N109I	unknown	Het
Rassf8	G	T	6: 145,761,266 (GRCm39)	K197N	probably benign	Het
Ryr2	T	C	13: 11,752,639 (GRCm39)	Q1894R	probably damaging	Het
Ryr3	T	A	2: 112,740,847 (GRCm39)	N487Y	probably damaging	Het
Scn5a	T	C	9: 119,368,604 (GRCm39)	Y307C	probably damaging	Het
Sdad1	C	T	5: 92,452,836 (GRCm39)	R134Q	possibly damaging	Het
Shroom1	C	T	11: 53,356,060 (GRCm39)	S370F	probably damaging	Het
Slc2a9	C	A	5: 38,539,442 (GRCm39)	G353C	probably damaging	Het
Snx33	T	A	9: 56,833,185 (GRCm39)	T295S	possibly damaging	Het
Spata31d1b	G	A	13: 59,866,172 (GRCm39)	V1107M	probably damaging	Het
Supt6	T	C	11: 78,115,509 (GRCm39)	D761G	probably benign	Het
Tfeb	T	C	17: 48,096,787 (GRCm39)	V18A	probably benign	Het
Thap12	G	T	7: 98,365,161 (GRCm39)	C443F	probably damaging	Het
Thap12	T	A	7: 98,365,162 (GRCm39)	C443*	probably null	Het
Tmem67	T	C	4: 12,063,158 (GRCm39)	D496G	probably benign	Het
Trappc8	G	A	18: 20,974,629 (GRCm39)	R900*	probably null	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Trmt1l	A	T	1: 151,318,388 (GRCm39)	I80L	probably benign	Het
Trpm5	C	A	7: 142,636,522 (GRCm39)	V472L	probably benign	Het
Tspear	C	T	10: 77,700,529 (GRCm39)	L120F	probably damaging	Het
Ttc9b	G	A	7: 27,355,443 (GRCm39)	V238M	probably benign	Het
Usp20	A	G	2: 30,909,836 (GRCm39)	I819V	probably benign	Het
Vmn2r102	T	A	17: 19,897,795 (GRCm39)	V270E	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zc3h18	A	T	8: 123,110,382 (GRCm39)	D77V	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het

Other mutations in Slc29a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Slc29a3	APN	10	60,559,596 (GRCm39)	missense	possibly damaging	0.95
R1967:Slc29a3	UTSW	10	60,552,243 (GRCm39)	missense	probably benign
R1986:Slc29a3	UTSW	10	60,559,593 (GRCm39)	missense	probably damaging	1.00
R2206:Slc29a3	UTSW	10	60,551,686 (GRCm39)	missense	possibly damaging	0.87
R3891:Slc29a3	UTSW	10	60,552,040 (GRCm39)	nonsense	probably null
R4748:Slc29a3	UTSW	10	60,552,105 (GRCm39)	missense	probably benign	0.01
R4749:Slc29a3	UTSW	10	60,552,105 (GRCm39)	missense	probably benign	0.01
R5682:Slc29a3	UTSW	10	60,551,991 (GRCm39)	missense	probably benign	0.00
R5938:Slc29a3	UTSW	10	60,588,563 (GRCm39)	unclassified	probably benign
R6104:Slc29a3	UTSW	10	60,556,781 (GRCm39)	missense	possibly damaging	0.77
R6405:Slc29a3	UTSW	10	60,551,805 (GRCm39)	missense	probably damaging	0.98
R7341:Slc29a3	UTSW	10	60,586,437 (GRCm39)	missense	probably benign	0.25
R7683:Slc29a3	UTSW	10	60,552,145 (GRCm39)	missense	not run
R8527:Slc29a3	UTSW	10	60,566,401 (GRCm39)	missense	probably damaging	1.00
R8542:Slc29a3	UTSW	10	60,566,401 (GRCm39)	missense	probably damaging	1.00
R9245:Slc29a3	UTSW	10	60,559,755 (GRCm39)	missense	possibly damaging	0.89
R9544:Slc29a3	UTSW	10	60,551,960 (GRCm39)	nonsense	probably null
R9650:Slc29a3	UTSW	10	60,586,302 (GRCm39)	missense	possibly damaging	0.87
RF009:Slc29a3	UTSW	10	60,586,340 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CGGCTGGTAGTTACAGAGCAAG -3'
(R):5'- CCCTGCAGGTACTACATGAG -3'

Sequencing Primer
(F):5'- AGCTTGCTCCTAGGACCTG -3'
(R):5'- TACTACATGAGGCCAGTTGC -3'

Posted On

2015-11-11