Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01559:Slc28a2'

90788

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc28a2

Ensembl Gene

ENSMUSG00000027219

Gene Name

solute carrier family 28 (sodium-coupled nucleoside transporter), member 2

Synonyms

CNT2, 2010208B10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

122426477-122461137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122454540 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 336 (H336Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028652] [ENSMUST00000110524] [ENSMUST00000110525]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028652
AA Change: H336Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028652
Gene: ENSMUSG00000027219
AA Change: H336Q

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	147	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	253	1.5e-28	PFAM
Pfam:Gate	260	360	7.9e-11	PFAM
Pfam:Nucleos_tra2_C	363	587	1e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110524
AA Change: H336Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106153
Gene: ENSMUSG00000027219
AA Change: H336Q

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	147	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	254	8.6e-26	PFAM
Pfam:Gate	260	387	2.5e-9	PFAM
Pfam:Nucleos_tra2_C	363	588	5.1e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110525
AA Change: H336Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106154
Gene: ENSMUSG00000027219
AA Change: H336Q

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
transmembrane domain	147	166	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	180	254	8.6e-26	PFAM
Pfam:Gate	260	387	2.5e-9	PFAM
Pfam:Nucleos_tra2_C	363	588	5.1e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153848

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,309,020	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,272,526	N1621S	probably benign	Het
Asb18	G	A	1: 89,954,450	S122F	probably damaging	Het
Atg4c	A	G	4: 99,218,203		probably benign	Het
Bbs7	T	C	3: 36,594,510	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,406,867	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,323,233	N295S	probably damaging	Het
Csn1s2b	A	T	5: 87,820,951	K80*	probably null	Het
Dennd6a	A	G	14: 26,608,565	D97G	probably damaging	Het
Dmxl1	A	G	18: 49,920,938	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,024,252		probably null	Het
Exoc4	A	G	6: 33,266,076	T75A	probably damaging	Het
Fbll1	T	C	11: 35,797,545	E297G	probably damaging	Het
Gm10642	T	A	9: 70,656,592	D152V	probably damaging	Het
Hdac3	A	G	18: 37,943,672		probably benign	Het
Kif17	A	G	4: 138,293,769	I850V	probably damaging	Het
Olfr166	T	C	16: 19,487,459	L207P	probably benign	Het
Pi4kb	T	A	3: 94,984,129	L52Q	probably benign	Het
Sec14l1	C	A	11: 117,143,284		probably null	Het
Usp17lb	A	G	7: 104,841,229	S164P	probably damaging	Het

Other mutations in Slc28a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Slc28a2	APN	2	122452057	missense	probably damaging	1.00
IGL01404:Slc28a2	APN	2	122452057	missense	probably damaging	1.00
IGL02016:Slc28a2	APN	2	122455341	missense	probably benign	0.01
IGL02503:Slc28a2	APN	2	122458212	missense	probably benign	0.00
IGL02576:Slc28a2	APN	2	122458171	missense	probably damaging	0.99
IGL02948:Slc28a2	APN	2	122457977	missense	possibly damaging	0.70
IGL03006:Slc28a2	APN	2	122452538	missense	possibly damaging	0.65
IGL03061:Slc28a2	APN	2	122454499	missense	probably damaging	1.00
R0028:Slc28a2	UTSW	2	122451602	missense	probably damaging	1.00
R0240:Slc28a2	UTSW	2	122454527	missense	probably benign
R0240:Slc28a2	UTSW	2	122454527	missense	probably benign
R0427:Slc28a2	UTSW	2	122458221	missense	probably benign	0.02
R0502:Slc28a2	UTSW	2	122458281	critical splice donor site	probably null
R0981:Slc28a2	UTSW	2	122450984	missense	probably damaging	1.00
R1229:Slc28a2	UTSW	2	122460531	nonsense	probably null
R1397:Slc28a2	UTSW	2	122460531	nonsense	probably null
R1641:Slc28a2	UTSW	2	122455617	missense	probably damaging	1.00
R1713:Slc28a2	UTSW	2	122451013	missense	probably damaging	1.00
R1732:Slc28a2	UTSW	2	122449758	splice site	probably benign
R1765:Slc28a2	UTSW	2	122460395	splice site	probably null
R1955:Slc28a2	UTSW	2	122447866	missense	probably benign
R1996:Slc28a2	UTSW	2	122455562	missense	probably damaging	1.00
R2299:Slc28a2	UTSW	2	122441778	nonsense	probably null
R2300:Slc28a2	UTSW	2	122441778	nonsense	probably null
R2510:Slc28a2	UTSW	2	122451016	nonsense	probably null
R4038:Slc28a2	UTSW	2	122454515	missense	probably benign	0.03
R4893:Slc28a2	UTSW	2	122455216	splice site	probably null
R5011:Slc28a2	UTSW	2	122457890	missense	possibly damaging	0.94
R5013:Slc28a2	UTSW	2	122457890	missense	possibly damaging	0.94
R5185:Slc28a2	UTSW	2	122458194	missense	probably benign	0.04
R6317:Slc28a2	UTSW	2	122454499	missense	possibly damaging	0.77
R7181:Slc28a2	UTSW	2	122451981	critical splice acceptor site	probably null
R8147:Slc28a2	UTSW	2	122458201	missense	probably benign	0.04

Posted On

2013-12-09