Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Slc29a1'

343876

Institutional Source

Beutler Lab

Gene Symbol

Slc29a1

Ensembl Gene

ENSMUSG00000023942

Gene Name

solute carrier family 29 (nucleoside transporters), member 1

Synonyms

ENT1, 1200014D21Rik, NBMPR-sensitive equilibrative nucleoside transporter

MMRRC Submission

041804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4583 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45585200-45599606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45589956 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 94 (V94A)

Ref Sequence

ENSEMBL: ENSMUSP00000129345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051574] [ENSMUST00000064889] [ENSMUST00000097317] [ENSMUST00000163492] [ENSMUST00000163905] [ENSMUST00000164217] [ENSMUST00000164618] [ENSMUST00000164769] [ENSMUST00000166119] [ENSMUST00000166633] [ENSMUST00000172301] [ENSMUST00000167195] [ENSMUST00000167692] [ENSMUST00000169729] [ENSMUST00000171081] [ENSMUST00000171847] [ENSMUST00000170113] [ENSMUST00000170488] [ENSMUST00000167332] [ENSMUST00000168274]

AlphaFold

Q9JIM1

Predicted Effect

probably benign
Transcript: ENSMUST00000051574
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000064889
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	456	2.1e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000087588

Predicted Effect

probably benign
Transcript: ENSMUST00000097317
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163492
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	456	2.1e-130	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163905
AA Change: V94A

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129240
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
transmembrane domain	109	130	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164217
AA Change: V94A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	262	8.4e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164618
AA Change: V94A

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126934
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
transmembrane domain	109	130	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164769
AA Change: V94A

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	358	2.7e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166119
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166633
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	195	1e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172301
AA Change: V94A

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129345
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167195
AA Change: V62A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133162
Gene: ENSMUSG00000023942
AA Change: V62A

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	98	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167692
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169729
AA Change: V62A

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942
AA Change: V62A

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170425

Predicted Effect

probably benign
Transcript: ENSMUST00000171081
AA Change: V94A

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	262	8.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171847
AA Change: V94A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: V94A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	456	2.1e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171978

Predicted Effect

probably benign
Transcript: ENSMUST00000170113

SMART Domains

Protein: ENSMUSP00000128304
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170488

Predicted Effect

probably benign
Transcript: ENSMUST00000167332

SMART Domains

Protein: ENSMUSP00000131483
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168274

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a slightly decreased body weight, increased alcohol preference and alcohol consumption, and reduced hypnotic and ataxic responses to ethanol associated with a reduction in adenosine tone. Adenosine uptake is almost completely abolished in mice homozygous for a knock-out allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,574,592 (GRCm38)	L86P	unknown	Het
Aimp1	C	T	3: 132,677,047 (GRCm38)	E23K	probably damaging	Het
Ap2b1	A	T	11: 83,397,779 (GRCm38)	N884I	probably benign	Het
Apoe	G	T	7: 19,697,498 (GRCm38)	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,912,571 (GRCm38)	D93E	probably benign	Het
Arhgef12	G	T	9: 42,977,662 (GRCm38)	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,317,664 (GRCm38)		probably null	Het
Atp9a	A	T	2: 168,689,360 (GRCm38)		probably null	Het
Baz1a	T	C	12: 54,922,540 (GRCm38)	I635V	probably damaging	Het
Bbs10	A	G	10: 111,301,134 (GRCm38)	K703E	probably benign	Het
Cckar	T	A	5: 53,699,782 (GRCm38)	M429L	probably benign	Het
Ccl3	A	T	11: 83,648,338 (GRCm38)	L65Q	probably benign	Het
Ccr3	A	G	9: 124,029,440 (GRCm38)	T271A	probably benign	Het
Cd8b1	T	A	6: 71,326,097 (GRCm38)	I52N	probably damaging	Het
Cdh15	G	A	8: 122,865,028 (GRCm38)	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466 (GRCm38)	K719R	probably benign	Het
Cfap43	T	C	19: 47,837,216 (GRCm38)	R38G	probably null	Het
Chd6	T	C	2: 161,014,194 (GRCm38)	E715G	probably damaging	Het
Cldn34b2	T	A	X: 155,125,629 (GRCm38)	R68*	probably null	Het
Col19a1	T	G	1: 24,561,329 (GRCm38)	D44A	unknown	Het
Colgalt2	C	T	1: 152,506,876 (GRCm38)	S493F	probably damaging	Het
Cr1l	T	C	1: 195,129,831 (GRCm38)	I99M	probably damaging	Het
Crybg1	T	C	10: 43,997,620 (GRCm38)	E1164G	probably damaging	Het
Cym	G	T	3: 107,211,402 (GRCm38)	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,522,842 (GRCm38)	T263K	probably damaging	Het
Dhx9	T	A	1: 153,460,303 (GRCm38)	M869L	probably damaging	Het
Dnm2	A	G	9: 21,504,446 (GRCm38)	H692R	probably damaging	Het
Ern1	A	T	11: 106,407,205 (GRCm38)	S697T	probably damaging	Het
F12	G	A	13: 55,421,130 (GRCm38)	T273I	probably benign	Het
Fam151b	A	T	13: 92,468,109 (GRCm38)	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991 (GRCm38)	V622A	probably benign	Het
Fbxo2	T	A	4: 148,164,899 (GRCm38)	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,367,078 (GRCm38)	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,707,549 (GRCm38)	D178E	probably benign	Het
Filip1	G	T	9: 79,815,809 (GRCm38)	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,739,249 (GRCm38)	Y1722C	probably damaging	Het
Frem3	T	C	8: 80,613,514 (GRCm38)	V812A	probably benign	Het
Fsip2	A	G	2: 82,978,673 (GRCm38)	I1779V	probably benign	Het
Gli2	C	T	1: 118,842,068 (GRCm38)	V585I	probably benign	Het
Gm15056	C	G	8: 20,900,681 (GRCm38)	S80T	probably benign	Het
Gm4951	T	C	18: 60,246,080 (GRCm38)	I229T	possibly damaging	Het
Gm5145	A	G	17: 20,570,453 (GRCm38)	E31G	probably benign	Het
Gmfg	A	G	7: 28,445,944 (GRCm38)	Y71C	probably damaging	Het
Grk1	A	G	8: 13,409,322 (GRCm38)	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,715,951 (GRCm38)	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,161,145 (GRCm38)	D2G	probably damaging	Het
Hc	A	T	2: 35,028,177 (GRCm38)	V698E	probably benign	Het
Helz	G	A	11: 107,646,069 (GRCm38)	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,413,265 (GRCm38)	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,663,606 (GRCm38)	R286G	probably benign	Het
Hus1b	A	T	13: 30,947,518 (GRCm38)	W53R	probably damaging	Het
Hydin	C	T	8: 110,595,225 (GRCm38)	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,265,324 (GRCm38)	P699A	probably benign	Het
Igkv1-122	A	T	6: 68,017,458 (GRCm38)	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,143,620 (GRCm38)	Y113C	probably damaging	Het
Il16	A	G	7: 83,682,899 (GRCm38)	S158P	probably damaging	Het
Kalrn	T	A	16: 34,235,267 (GRCm38)	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134 (GRCm38)	L357H	probably damaging	Het
Krt78	T	C	15: 101,946,620 (GRCm38)	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,684,906 (GRCm38)	C594R	probably damaging	Het
Lcorl	A	T	5: 45,733,589 (GRCm38)	L474*	probably null	Het
Lgals3	A	T	14: 47,381,687 (GRCm38)		probably null	Het
Lnx1	C	T	5: 74,610,796 (GRCm38)	V350I	probably benign	Het
Lpcat3	T	G	6: 124,703,323 (GRCm38)	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,541,372 (GRCm38)	T4149A	probably benign	Het
Memo1	G	A	17: 74,258,461 (GRCm38)	Q36*	probably null	Het
Micalcl	A	G	7: 112,412,947 (GRCm38)	N668S	probably benign	Het
Ms4a10	A	T	19: 10,968,189 (GRCm38)	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,051,872 (GRCm38)	L362V	possibly damaging	Het
Myh3	T	A	11: 67,096,453 (GRCm38)	Y1376*	probably null	Het
Mymk	C	A	2: 27,062,280 (GRCm38)	V192F	probably benign	Het
Myo1c	A	G	11: 75,671,862 (GRCm38)	D966G	possibly damaging	Het
Ncam2	A	G	16: 81,517,557 (GRCm38)	N474D	probably damaging	Het
Nmnat1	T	C	4: 149,469,151 (GRCm38)	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,386,645 (GRCm38)	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522 (GRCm38)		probably null	Het
Nsd3	T	A	8: 25,710,676 (GRCm38)	M1265K	probably benign	Het
Olfr1206	G	T	2: 88,865,494 (GRCm38)	M296I	probably benign	Het
Olfr1212	T	A	2: 88,959,212 (GRCm38)	F249I	probably damaging	Het
Olfr1462	T	A	19: 13,190,698 (GRCm38)	F10L	probably damaging	Het
Olfr152	T	C	2: 87,783,221 (GRCm38)	V227A	possibly damaging	Het
Olfr155	A	G	4: 43,855,262 (GRCm38)	T318A	probably benign	Het
Olfr345	A	C	2: 36,640,614 (GRCm38)	T192P	probably damaging	Het
Olfr394	T	C	11: 73,887,803 (GRCm38)	T190A	probably damaging	Het
Olfr812	T	C	10: 129,842,475 (GRCm38)	D189G	probably damaging	Het
Otub1	G	A	19: 7,204,436 (GRCm38)	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,108,210 (GRCm38)	R102*	probably null	Het
Patl2	A	G	2: 122,126,745 (GRCm38)	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,475,575 (GRCm38)	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,141,528 (GRCm38)	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,196,502 (GRCm38)	D447G	probably damaging	Het
Pold1	C	A	7: 44,538,913 (GRCm38)	A514S	probably damaging	Het
Pomgnt1	C	T	4: 116,158,494 (GRCm38)	T552I	probably benign	Het
Ppl	T	C	16: 5,104,536 (GRCm38)	E294G	probably benign	Het
Pramef8	A	G	4: 143,416,754 (GRCm38)	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,457,224 (GRCm38)	S100G	probably benign	Het
Psg16	T	G	7: 17,095,172 (GRCm38)	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 123,001,952 (GRCm38)		probably benign	Het
Reck	T	C	4: 43,931,062 (GRCm38)		probably null	Het
Rrbp1	C	T	2: 143,988,751 (GRCm38)	G499S	probably benign	Het
Sema6d	G	T	2: 124,664,162 (GRCm38)	R630L	probably damaging	Het
Slc35a1	T	A	4: 34,664,146 (GRCm38)	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,458,921 (GRCm38)	L80Q	probably damaging	Het
Slc7a10	G	T	7: 35,197,952 (GRCm38)		probably null	Het
Srrm2	C	T	17: 23,819,619 (GRCm38)		probably benign	Het
Stk38	T	G	17: 28,982,156 (GRCm38)	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,685,435 (GRCm38)	G104S	probably benign	Het
Tmem121b	T	C	6: 120,492,094 (GRCm38)	E554G	probably damaging	Het
Tor1aip2	A	G	1: 156,065,142 (GRCm38)	H398R	probably benign	Het
Tram2	C	T	1: 21,013,449 (GRCm38)	V83I	probably benign	Het
Ube3a	C	T	7: 59,286,063 (GRCm38)	T565I	probably damaging	Het
Ubr4	T	C	4: 139,380,853 (GRCm38)	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,349,719 (GRCm38)	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,606,662 (GRCm38)	T163I	probably benign	Het
Vmn2r75	T	A	7: 86,164,082 (GRCm38)	D504V	possibly damaging	Het
Vps36	G	A	8: 22,218,420 (GRCm38)	M363I	probably benign	Het
Wdsub1	A	G	2: 59,878,317 (GRCm38)	S71P	probably damaging	Het
Zdhhc12	A	G	2: 30,091,484 (GRCm38)	F189L	probably benign	Het
Zfp521	T	C	18: 13,844,330 (GRCm38)	M1009V	probably benign	Het

Other mutations in Slc29a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Slc29a1	APN	17	45,589,992 (GRCm38)	missense	probably damaging	1.00
IGL01617:Slc29a1	APN	17	45,589,449 (GRCm38)	missense	probably benign	0.02
IGL02154:Slc29a1	APN	17	45,586,163 (GRCm38)	missense	probably damaging	1.00
soldate	UTSW	17	45,586,263 (GRCm38)	missense	probably damaging	1.00
veteran	UTSW	17	45,589,921 (GRCm38)	critical splice donor site	probably null
veterinarian	UTSW	17	45,586,109 (GRCm38)	missense	probably damaging	1.00
workhorse	UTSW	17	45,589,066 (GRCm38)	nonsense	probably null
R0288:Slc29a1	UTSW	17	45,589,804 (GRCm38)	missense	probably damaging	1.00
R1168:Slc29a1	UTSW	17	45,590,278 (GRCm38)	missense	probably damaging	1.00
R1676:Slc29a1	UTSW	17	45,589,010 (GRCm38)	missense	probably damaging	0.98
R1777:Slc29a1	UTSW	17	45,587,308 (GRCm38)	missense	probably damaging	1.00
R2032:Slc29a1	UTSW	17	45,586,109 (GRCm38)	missense	probably damaging	1.00
R2413:Slc29a1	UTSW	17	45,585,717 (GRCm38)	missense	probably damaging	1.00
R3917:Slc29a1	UTSW	17	45,588,973 (GRCm38)	splice site	probably null
R4513:Slc29a1	UTSW	17	45,589,066 (GRCm38)	nonsense	probably null
R5244:Slc29a1	UTSW	17	45,588,413 (GRCm38)	unclassified	probably benign
R6174:Slc29a1	UTSW	17	45,589,928 (GRCm38)	missense	probably damaging	1.00
R6284:Slc29a1	UTSW	17	45,589,921 (GRCm38)	critical splice donor site	probably null
R6446:Slc29a1	UTSW	17	45,589,245 (GRCm38)	missense	possibly damaging	0.88
R6607:Slc29a1	UTSW	17	45,588,927 (GRCm38)	splice site	probably null
R7133:Slc29a1	UTSW	17	45,589,971 (GRCm38)	missense	possibly damaging	0.50
R7153:Slc29a1	UTSW	17	45,585,762 (GRCm38)	missense	probably damaging	1.00
R7248:Slc29a1	UTSW	17	45,592,182 (GRCm38)	missense	probably damaging	1.00
R7271:Slc29a1	UTSW	17	45,588,362 (GRCm38)	missense	probably benign	0.01
R7604:Slc29a1	UTSW	17	45,592,324 (GRCm38)	splice site	probably null
R7811:Slc29a1	UTSW	17	45,586,263 (GRCm38)	missense	probably damaging	1.00
R8406:Slc29a1	UTSW	17	45,589,780 (GRCm38)	missense	probably damaging	1.00
R8751:Slc29a1	UTSW	17	45,589,762 (GRCm38)	missense	probably benign	0.00
R8851:Slc29a1	UTSW	17	45,589,476 (GRCm38)	missense	probably damaging	1.00
R9224:Slc29a1	UTSW	17	45,586,227 (GRCm38)	missense	probably damaging	0.99
R9301:Slc29a1	UTSW	17	45,586,137 (GRCm38)	missense	probably damaging	1.00
X0067:Slc29a1	UTSW	17	45,590,325 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGATCAGAGCATCCATCTCC -3'
(R):5'- ATTTCACAAACCGCCTGGAC -3'

Sequencing Primer
(F):5'- GATCAGAGCATCCATCTCCACCTTC -3'
(R):5'- ACGTGTCCCAGAATGTGTC -3'

Posted On

2015-09-24