Mutagenetix > Incidental Mutation

Incidental Mutation 'R4748:Slc29a3'

357311

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

042030-MU

Accession Numbers

Essential gene?

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

Stock #

R4748 (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: 98.6%
10x: 97.1%
20x: 94.9%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,784,394 (GRCm39)	E54D	possibly damaging	Het
Abcb6	C	A	1: 75,154,002 (GRCm39)	G367W	probably damaging	Het
Asprv1	A	G	6: 86,605,405 (GRCm39)	M84V	probably damaging	Het
Aspscr1	T	C	11: 120,592,333 (GRCm39)	V291A	probably damaging	Het
B4galnt4	T	C	7: 140,651,633 (GRCm39)	F980L	probably damaging	Het
Bpi	G	A	2: 158,113,941 (GRCm39)	V280I	possibly damaging	Het
Bptf	T	C	11: 106,986,706 (GRCm39)	D581G	probably damaging	Het
Cap2	T	A	13: 46,793,302 (GRCm39)	Y223N	possibly damaging	Het
Ccdc141	A	C	2: 76,888,324 (GRCm39)	I480M	possibly damaging	Het
Ccn4	C	A	15: 66,778,489 (GRCm39)	Y103*	probably null	Het
Ccnh	T	A	13: 85,337,758 (GRCm39)	V35E	probably benign	Het
Cd6	G	T	19: 10,771,589 (GRCm39)	S433*	probably null	Het
Ceacam10	A	C	7: 24,480,477 (GRCm39)	I83L	probably benign	Het
Chek2	T	C	5: 111,003,705 (GRCm39)		probably null	Het
Chia1	A	T	3: 106,029,765 (GRCm39)	D73V	probably damaging	Het
Commd2	G	A	3: 57,554,215 (GRCm39)	T162I	probably benign	Het
Creb3l3	C	T	10: 80,921,881 (GRCm39)	A316T	probably benign	Het
Cul4a	A	G	8: 13,173,526 (GRCm39)	K1R	probably benign	Het
Cyp2c23	T	C	19: 44,005,176 (GRCm39)		probably null	Het
D630045J12Rik	T	C	6: 38,173,776 (GRCm39)	T131A	possibly damaging	Het
Dctn4	A	C	18: 60,683,308 (GRCm39)	K295N	probably damaging	Het
Dnah1	A	G	14: 31,041,902 (GRCm39)	V23A	probably benign	Het
Dync1i1	A	G	6: 5,767,048 (GRCm39)	K91E	possibly damaging	Het
Dzip1l	A	G	9: 99,524,704 (GRCm39)	D275G	probably damaging	Het
Enam	C	A	5: 88,649,402 (GRCm39)	P304T	probably damaging	Het
Enpep	A	G	3: 129,125,812 (GRCm39)	Y107H	probably damaging	Het
Exd2	T	C	12: 80,527,350 (GRCm39)	L27P	probably damaging	Het
Fam135b	T	A	15: 71,335,904 (GRCm39)	D430V	probably benign	Het
Fam222b	C	T	11: 78,045,429 (GRCm39)	T202I	possibly damaging	Het
Fmod	T	A	1: 133,968,912 (GRCm39)	N317K	probably damaging	Het
Frem2	A	G	3: 53,448,514 (GRCm39)	F2301L	probably damaging	Het
Frem3	T	C	8: 81,338,088 (GRCm39)	F127S	probably damaging	Het
Gbp7	A	G	3: 142,243,848 (GRCm39)	S132G	probably benign	Het
Gm4787	A	G	12: 81,424,830 (GRCm39)	C443R	probably damaging	Het
Grik2	T	C	10: 49,411,437 (GRCm39)	M5V	possibly damaging	Het
Helb	T	C	10: 119,920,754 (GRCm39)	D1063G	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt90	G	A	15: 101,463,768 (GRCm39)	L429F	probably damaging	Het
Lrr1	C	A	12: 69,221,236 (GRCm39)	T126K	probably benign	Het
Mgat4e	C	A	1: 134,469,766 (GRCm39)	D93Y	probably damaging	Het
Mllt3	A	T	4: 87,759,018 (GRCm39)	S343R	possibly damaging	Het
Mms19	T	A	19: 41,932,997 (GRCm39)	S1031C	probably damaging	Het
Mtrf1	C	T	14: 79,649,090 (GRCm39)	H237Y	probably damaging	Het
Nckap1l	T	A	15: 103,381,483 (GRCm39)	L408Q	probably damaging	Het
Oit3	A	T	10: 59,259,904 (GRCm39)	C500S	probably damaging	Het
Or11g1	T	G	14: 50,651,333 (GRCm39)	L111V	possibly damaging	Het
Or13c3	A	G	4: 52,856,076 (GRCm39)	S146P	possibly damaging	Het
Or4a39	C	T	2: 89,236,599 (GRCm39)	V275I	probably benign	Het
Or5d36	T	A	2: 87,900,956 (GRCm39)	I257L	probably benign	Het
Otud7a	T	C	7: 63,385,663 (GRCm39)	S376P	possibly damaging	Het
Pabpc2	A	T	18: 39,907,322 (GRCm39)	K196*	probably null	Het
Paqr8	T	A	1: 21,005,637 (GRCm39)	C264S	probably benign	Het
Pgm1	T	A	4: 99,839,176 (GRCm39)	F459Y	probably benign	Het
Phip	C	A	9: 82,790,922 (GRCm39)	V675L	probably benign	Het
Pnma1	T	G	12: 84,194,497 (GRCm39)	T69P	probably benign	Het
Ppp1r14bl	T	C	1: 23,140,951 (GRCm39)	E121G	probably damaging	Het
Ptpn12	A	T	5: 21,210,383 (GRCm39)	C242*	probably null	Het
Rabep1	T	A	11: 70,799,294 (GRCm39)	V306E	probably benign	Het
Ros1	C	T	10: 51,992,093 (GRCm39)	D1377N	probably benign	Het
Ryr3	T	C	2: 112,794,750 (GRCm39)	T121A	possibly damaging	Het
Scaf11	G	A	15: 96,318,302 (GRCm39)	Q421*	probably null	Het
Shcbp1	G	A	8: 4,794,512 (GRCm39)	T427M	probably damaging	Het
Shprh	G	A	10: 11,046,220 (GRCm39)	R979H	probably damaging	Het
Slc22a27	C	T	19: 7,903,241 (GRCm39)	C163Y	probably benign	Het
Slc27a1	A	G	8: 72,033,319 (GRCm39)	D287G	probably damaging	Het
Slc27a1	C	T	8: 72,033,453 (GRCm39)	T310M	possibly damaging	Het
Slc35f2	A	T	9: 53,679,069 (GRCm39)	M1L	probably benign	Het
Sltm	G	C	9: 70,488,647 (GRCm39)	R599T	probably damaging	Het
Spic	T	A	10: 88,511,752 (GRCm39)	Q168L	probably damaging	Het
Spink6	G	A	18: 44,215,428 (GRCm39)		probably null	Het
Stac2	T	C	11: 97,932,198 (GRCm39)	E235G	possibly damaging	Het
Szt2	G	A	4: 118,246,388 (GRCm39)	Q957*	probably null	Het
Them7	A	T	2: 105,208,991 (GRCm39)	T104S	possibly damaging	Het
Tmed4	T	A	11: 6,221,716 (GRCm39)	I207F	possibly damaging	Het
Tmem248	A	G	5: 130,265,731 (GRCm39)	E178G	probably benign	Het
Tomm40l	G	A	1: 171,047,131 (GRCm39)	R296*	probably null	Het
Trim80	C	A	11: 115,338,964 (GRCm39)	T598N	possibly damaging	Het
Trim9	T	C	12: 70,295,047 (GRCm39)	N688D	probably damaging	Het
Vil1	C	T	1: 74,460,425 (GRCm39)	A194V	probably damaging	Het
Vmn2r61	A	T	7: 41,916,565 (GRCm39)	M393L	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Vps33b	G	T	7: 79,939,796 (GRCm39)	A516S	probably damaging	Het
Zc3h6	G	A	2: 128,844,160 (GRCm39)	G235R	probably damaging	Het
Zfp612	T	A	8: 110,815,304 (GRCm39)	D170E	probably benign	Het
Zfp746	A	G	6: 48,041,490 (GRCm39)	I412T	probably benign	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
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'- TGTCCCTGCAGGTACTACATG -3'

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

Posted On

2015-11-11