Mutagenetix > Incidental Mutation

Incidental Mutation 'R9544:Slc29a3'

720012

Institutional Source

Beutler Lab

Gene Symbol

Slc29a3

Ensembl Gene

ENSMUSG00000020100

Gene Name

solute carrier family 29 (nucleoside transporters), member 3

Synonyms

4933435C21Rik, Ent3

Accession Numbers

Essential gene?

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

Stock #

R9544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60547851-60588573 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 60551960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 361 (C361*)

Ref Sequence

ENSEMBL: ENSMUSP00000112685 (fasta)

Gene Model

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

AlphaFold

Q99P65

Predicted Effect

probably null
Transcript: ENSMUST00000117513
AA Change: C361*

SMART Domains

Protein: ENSMUSP00000112685
Gene: ENSMUSG00000020100
AA Change: C361*

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

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: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,202 (GRCm39)	E82G	possibly damaging	Het
Adra2a	C	G	19: 54,035,454 (GRCm39)	P270R	probably benign	Het
Alox12b	A	T	11: 69,054,812 (GRCm39)	I272F	possibly damaging	Het
Als2	C	A	1: 59,250,468 (GRCm39)	E425D	probably benign	Het
Arhgap21	C	A	2: 20,858,938 (GRCm39)	C1252F	possibly damaging	Het
Arhgap31	T	G	16: 38,423,976 (GRCm39)	T697P	probably damaging	Het
Aspm	C	A	1: 139,385,523 (GRCm39)	T389K	probably benign	Het
B4galnt3	T	A	6: 120,209,905 (GRCm39)	I73F	probably damaging	Het
Btn2a2	A	G	13: 23,672,008 (GRCm39)	V27A	probably benign	Het
Cep97	A	T	16: 55,735,303 (GRCm39)	N570K	possibly damaging	Het
Cfh	T	C	1: 140,036,266 (GRCm39)	I751V	probably benign	Het
Chd3	A	G	11: 69,241,046 (GRCm39)	C1516R	probably damaging	Het
Cul3	A	G	1: 80,258,576 (GRCm39)	F487L	probably damaging	Het
Dock1	T	C	7: 134,348,186 (GRCm39)	S266P	possibly damaging	Het
Dock6	A	T	9: 21,732,830 (GRCm39)	Y1118*	probably null	Het
Dolpp1	T	A	2: 30,282,515 (GRCm39)	Y23N	probably damaging	Het
Egf	T	C	3: 129,511,617 (GRCm39)	M517V	probably benign	Het
Endou	C	A	15: 97,609,969 (GRCm39)	K442N	probably damaging	Het
Fam210b	C	T	2: 172,194,633 (GRCm39)	R162W	probably damaging	Het
Fbxw27	ATGT	AT	9: 109,602,322 (GRCm39)		probably null	Het
Flt3	T	A	5: 147,291,442 (GRCm39)	Q641L	possibly damaging	Het
Ighv3-3	T	A	12: 114,160,270 (GRCm39)	I47F	probably damaging	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Kcnq2	T	G	2: 180,729,407 (GRCm39)	D532A	probably damaging	Het
Krtap11-1	A	C	16: 89,368,062 (GRCm39)		probably benign	Het
Lamp3	T	A	16: 19,494,832 (GRCm39)		probably null	Het
Lcn3	A	T	2: 25,656,151 (GRCm39)	I69L	probably benign	Het
Lrrc43	A	T	5: 123,641,307 (GRCm39)	H497L	probably damaging	Het
Luc7l2	T	G	6: 38,580,315 (GRCm39)	S305A	unknown	Het
Malrd1	C	T	2: 15,640,809 (GRCm39)	T513I	unknown	Het
Mllt3	T	A	4: 87,759,418 (GRCm39)	D210V	probably damaging	Het
Mmp14	A	G	14: 54,673,251 (GRCm39)	H53R	possibly damaging	Het
Ndst4	A	C	3: 125,476,808 (GRCm39)	H11P	probably damaging	Het
Nln	G	A	13: 104,198,356 (GRCm39)	T152M	probably benign	Het
Oas1c	A	G	5: 120,946,202 (GRCm39)	F99L	probably benign	Het
Or10s1	T	C	9: 39,986,353 (GRCm39)	L254P	probably damaging	Het
Or1e35	T	C	11: 73,797,637 (GRCm39)	K227R	probably benign	Het
Or1j11	G	T	2: 36,311,784 (GRCm39)	A125S	probably damaging	Het
Or5w15	G	A	2: 87,568,644 (GRCm39)	T8I	probably benign	Het
Or7g25	T	A	9: 19,160,561 (GRCm39)	I45F	probably damaging	Het
Pappa2	C	A	1: 158,784,817 (GRCm39)	Q64H	probably damaging	Het
Pcdhb15	T	C	18: 37,608,948 (GRCm39)	F727L	probably benign	Het
Pcsk1	A	T	13: 75,259,039 (GRCm39)	N271I	probably damaging	Het
Pkhd1l1	G	A	15: 44,410,239 (GRCm39)	G2582D	probably damaging	Het
Psma4	A	T	9: 54,862,245 (GRCm39)	Q123L	probably damaging	Het
Selenbp2	A	T	3: 94,605,368 (GRCm39)	I127F	possibly damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slx4	C	A	16: 3,797,917 (GRCm39)	R1489L	probably damaging	Het
Sorl1	A	C	9: 41,993,105 (GRCm39)	Y306*	probably null	Het
Tbc1d16	G	T	11: 119,101,335 (GRCm39)	H58Q	probably damaging	Het
Tfdp2	A	G	9: 96,169,663 (GRCm39)	T5A	probably damaging	Het
Thbs1	G	T	2: 117,953,932 (GRCm39)	G1061V	probably damaging	Het
Timm29	G	A	9: 21,504,662 (GRCm39)	R110H	probably damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Trappc11	T	C	8: 47,972,713 (GRCm39)	T287A	possibly damaging	Het
Unc119b	G	A	5: 115,272,827 (GRCm39)	T48M	probably benign	Het
Vmn1r123	T	C	7: 20,896,987 (GRCm39)	I293T	probably benign	Het
Vmn2r67	G	A	7: 84,786,317 (GRCm39)	H563Y	possibly damaging	Het
Vps8	G	T	16: 21,336,893 (GRCm39)	V763L	probably benign	Het
Wdr3	A	T	3: 100,050,752 (GRCm39)	Y722*	probably null	Het
Xrn1	A	G	9: 95,920,756 (GRCm39)	T1339A	probably benign	Het
Zfp827	T	A	8: 79,905,604 (GRCm39)	H860Q	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
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
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'- AATCTTGGGCCCATAGATGAGC -3'
(R):5'- TGAAGAAGACGGCTAGCCTC -3'

Sequencing Primer
(F):5'- GGCCCATAGATGAGCACCAG -3'
(R):5'- CGGGTTCTGCGCAGTTTCC -3'

Posted On

2022-07-18