Mutagenetix > Incidental Mutation

Incidental Mutation 'R5938:Slc29a3'

462387

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

044131-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R5938 (G1)

Quality Score

116

Status

Validated

Chromosome

Chromosomal Location

60547851-60588573 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 60588563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119716 (fasta)

Gene Model

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

AlphaFold

Q99P65

Predicted Effect

probably benign
Transcript: ENSMUST00000117513

SMART Domains

Protein: ENSMUSP00000112685
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
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: 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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

94% (63/67)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,333,400 (GRCm39)	D503E	possibly damaging	Het
Bsn	C	T	9: 107,990,208 (GRCm39)	R1848Q	possibly damaging	Het
Cacna1d	C	T	14: 29,825,692 (GRCm39)	V1001I	probably damaging	Het
Calhm3	T	C	19: 47,140,516 (GRCm39)	I192M	probably damaging	Het
Cep44	A	G	8: 57,000,457 (GRCm39)	S19P	possibly damaging	Het
Cxcl15	T	A	5: 90,949,225 (GRCm39)	I130K	unknown	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Emc1	T	G	4: 139,084,931 (GRCm39)	H167Q	probably benign	Het
Epb41l3	T	G	17: 69,566,066 (GRCm39)	Y416D	probably damaging	Het
Erbb2	G	A	11: 98,326,397 (GRCm39)	R1007H	probably damaging	Het
Esr1	A	G	10: 4,916,245 (GRCm39)		probably benign	Het
Fat4	G	A	3: 39,005,388 (GRCm39)	R1929Q	probably damaging	Het
Fsip2	T	A	2: 82,807,835 (GRCm39)	C1385S	probably benign	Het
Gbf1	T	C	19: 46,256,891 (GRCm39)	I777T	probably damaging	Het
Gm16092	T	G	1: 85,440,689 (GRCm39)		noncoding transcript	Het
Greb1	T	A	12: 16,767,259 (GRCm39)	K314N	probably damaging	Het
Iigp1c	C	A	18: 60,378,724 (GRCm39)	N86K	probably damaging	Het
Ipcef1	A	G	10: 6,858,029 (GRCm39)		probably benign	Het
Iqank1	G	A	15: 75,917,281 (GRCm39)	E305K	possibly damaging	Het
Mgat4a	C	A	1: 37,491,344 (GRCm39)	L292F	probably damaging	Het
Mill1	A	G	7: 17,996,613 (GRCm39)	N143S	probably benign	Het
Mindy1	A	G	3: 95,201,067 (GRCm39)	T324A	probably benign	Het
Mpdz	T	A	4: 81,202,851 (GRCm39)	H1882L	probably damaging	Het
Ncapg2	T	A	12: 116,393,277 (GRCm39)	W494R	probably damaging	Het
Oas1c	A	T	5: 120,943,598 (GRCm39)	H180Q	probably benign	Het
Or2q1	T	A	6: 42,794,701 (GRCm39)	C99S	probably damaging	Het
Or4c108	T	C	2: 88,803,357 (GRCm39)	M293V	probably benign	Het
Or4k49	A	G	2: 111,494,708 (GRCm39)	M46V	probably benign	Het
Or5ak20	A	T	2: 85,183,620 (GRCm39)	S217T	probably damaging	Het
Or6c88	A	G	10: 129,407,396 (GRCm39)	R291G	probably damaging	Het
Pelp1	A	G	11: 70,285,693 (GRCm39)	V725A	probably damaging	Het
Plxna4	T	C	6: 32,211,541 (GRCm39)	E666G	probably benign	Het
Pprc1	ATCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTC	19: 46,059,755 (GRCm39)		probably benign	Het
Prdm16	T	C	4: 154,432,411 (GRCm39)	D285G	probably damaging	Het
Rasa2	A	G	9: 96,493,442 (GRCm39)	S81P	possibly damaging	Het
Rhd	T	A	4: 134,623,287 (GRCm39)	F418Y	probably benign	Het
Rnf207	T	C	4: 152,402,385 (GRCm39)		probably benign	Het
Rsf1	C	T	7: 97,334,766 (GRCm39)	R1300C	probably damaging	Het
Ryr1	A	C	7: 28,746,290 (GRCm39)	L3830R	probably damaging	Het
Sgsh	A	G	11: 119,237,625 (GRCm39)	Y330H	probably benign	Het
Sh3bp5	T	C	14: 31,109,791 (GRCm39)	E130G	possibly damaging	Het
Slco1a5	A	G	6: 142,194,443 (GRCm39)	L400P	probably damaging	Het
Snd1	A	G	6: 28,874,858 (GRCm39)		probably null	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Tas2r110	A	T	6: 132,845,016 (GRCm39)	I16L	probably benign	Het
Tmx3	T	A	18: 90,546,058 (GRCm39)	V213D	possibly damaging	Het
Uba2	A	T	7: 33,864,915 (GRCm39)		probably null	Het
Wfikkn1	T	A	17: 26,097,886 (GRCm39)	D112V	probably damaging	Het
Zfhx4	A	G	3: 5,467,198 (GRCm39)	N2452S	probably damaging	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
R4734:Slc29a3	UTSW	10	60,552,105 (GRCm39)	missense	probably benign	0.01
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
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'- AAGACAAGTCCTCGCTGCAG -3'
(R):5'- CAATTGGACGCCTGCAGTTAC -3'

Sequencing Primer
(F):5'- CAAAGCCTTCTGGATCTTTCGGG -3'
(R):5'- AGTTACTGCCGTAGGCCAGGAAGAG -3'

Posted On

2017-02-28