Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00563:Slc22a29'

277773

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a29

Ensembl Gene

ENSMUSG00000075044

Gene Name

solute carrier family 22. member 29

Synonyms

D630002G06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00563

Quality Score

Status

Chromosome

Chromosomal Location

8137529-8196264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8138993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 490 (T490S)

Ref Sequence

ENSEMBL: ENSMUSP00000108923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113298] [ENSMUST00000222533]

AlphaFold

Q8BWG6

Predicted Effect

probably benign
Transcript: ENSMUST00000113298
AA Change: T490S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: T490S

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	99	528	1.3e-25	PFAM
Pfam:MFS_1	140	372	7.7e-14	PFAM
Pfam:MFS_1	348	549	6.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140910

SMART Domains

Protein: ENSMUSP00000117625
Gene: ENSMUSG00000075044

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Sugar_tr	98	454	4.6e-20	PFAM
Pfam:MFS_1	137	462	3.6e-15	PFAM
low complexity region	467	481	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149182

SMART Domains

Protein: ENSMUSP00000122262
Gene: ENSMUSG00000075044

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	62	418	2.2e-20	PFAM
Pfam:MFS_1	101	427	1.9e-15	PFAM
low complexity region	431	445	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222533
AA Change: D465V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 25,202,619 (GRCm39)		probably benign	Het
Atp13a4	T	C	16: 29,222,596 (GRCm39)		probably benign	Het
AU016765	C	A	17: 64,826,877 (GRCm39)		noncoding transcript	Het
Clstn2	A	G	9: 97,464,505 (GRCm39)		probably benign	Het
Crip1	T	A	12: 113,117,232 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Fktn	A	T	4: 53,747,007 (GRCm39)		probably null	Het
Fndc3a	C	A	14: 72,796,797 (GRCm39)		probably benign	Het
Focad	T	A	4: 88,267,046 (GRCm39)	M1019K	unknown	Het
Fuca2	A	T	10: 13,381,651 (GRCm39)	D188V	probably damaging	Het
Gzmk	C	T	13: 113,309,658 (GRCm39)	V92I	probably benign	Het
Mprip	C	T	11: 59,643,443 (GRCm39)	R520W	probably damaging	Het
Mrpl19	A	G	6: 81,942,853 (GRCm39)	V19A	probably benign	Het
Ndufb3	T	A	1: 58,634,958 (GRCm39)	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 110,382,779 (GRCm39)	V1675A	possibly damaging	Het
Saxo1	C	T	4: 86,363,809 (GRCm39)	E225K	probably damaging	Het
Sbno1	A	G	5: 124,540,268 (GRCm39)	S383P	probably damaging	Het
Smc6	T	A	12: 11,351,532 (GRCm39)	S854T	probably benign	Het
Smim23	T	C	11: 32,771,893 (GRCm39)	T58A	probably benign	Het
Tas2r134	T	C	2: 51,518,100 (GRCm39)	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,658 (GRCm39)		probably null	Het
Trav13n-4	T	G	14: 53,601,423 (GRCm39)	V64G	possibly damaging	Het
Trmt10a	G	A	3: 137,853,177 (GRCm39)	E13K	probably damaging	Het
Txndc11	T	C	16: 10,922,496 (GRCm39)	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,804,077 (GRCm39)	N442K	probably benign	Het
Vps13a	C	T	19: 16,712,078 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,366 (GRCm39)	D5G	probably benign	Het

Other mutations in Slc22a29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Slc22a29	APN	19	8,195,177 (GRCm39)	missense	probably benign	0.44
IGL00562:Slc22a29	APN	19	8,138,993 (GRCm39)	missense	probably benign	0.03
IGL00952:Slc22a29	APN	19	8,195,221 (GRCm39)	missense	probably damaging	1.00
IGL01526:Slc22a29	APN	19	8,184,542 (GRCm39)	splice site	probably benign
IGL01792:Slc22a29	APN	19	8,195,893 (GRCm39)	missense	probably damaging	1.00
IGL02191:Slc22a29	APN	19	8,196,045 (GRCm39)	unclassified	probably benign
IGL02391:Slc22a29	APN	19	8,146,717 (GRCm39)	missense	probably benign	0.13
IGL02408:Slc22a29	APN	19	8,184,649 (GRCm39)	missense	probably benign	0.00
IGL02957:Slc22a29	APN	19	8,147,354 (GRCm39)	missense	probably benign	0.01
IGL03059:Slc22a29	APN	19	8,147,354 (GRCm39)	missense	probably benign	0.01
IGL03299:Slc22a29	APN	19	8,140,012 (GRCm39)	critical splice donor site	probably null
IGL03368:Slc22a29	APN	19	8,184,626 (GRCm39)	critical splice donor site	probably null
R0017:Slc22a29	UTSW	19	8,195,630 (GRCm39)	splice site	probably benign
R0105:Slc22a29	UTSW	19	8,137,991 (GRCm39)	unclassified	probably benign
R0157:Slc22a29	UTSW	19	8,140,106 (GRCm39)	missense	possibly damaging	0.61
R0265:Slc22a29	UTSW	19	8,147,334 (GRCm39)	missense	probably benign	0.18
R1758:Slc22a29	UTSW	19	8,195,126 (GRCm39)	critical splice donor site	probably null
R1918:Slc22a29	UTSW	19	8,195,123 (GRCm39)	splice site	probably null
R1927:Slc22a29	UTSW	19	8,184,430 (GRCm39)	missense	probably benign	0.01
R1959:Slc22a29	UTSW	19	8,146,557 (GRCm39)	missense	probably benign	0.05
R1960:Slc22a29	UTSW	19	8,146,557 (GRCm39)	missense	probably benign	0.05
R1961:Slc22a29	UTSW	19	8,146,557 (GRCm39)	missense	probably benign	0.05
R1966:Slc22a29	UTSW	19	8,195,772 (GRCm39)	missense	probably damaging	1.00
R1968:Slc22a29	UTSW	19	8,195,707 (GRCm39)	missense	probably benign	0.27
R1997:Slc22a29	UTSW	19	8,195,162 (GRCm39)	missense	probably benign	0.00
R3105:Slc22a29	UTSW	19	8,147,337 (GRCm39)	missense	probably benign	0.25
R3725:Slc22a29	UTSW	19	8,195,973 (GRCm39)	missense	possibly damaging	0.78
R4118:Slc22a29	UTSW	19	8,137,893 (GRCm39)	unclassified	probably benign
R4465:Slc22a29	UTSW	19	8,140,088 (GRCm39)	nonsense	probably null
R4584:Slc22a29	UTSW	19	8,146,655 (GRCm39)	missense	probably benign	0.02
R4656:Slc22a29	UTSW	19	8,195,664 (GRCm39)	missense	possibly damaging	0.90
R4679:Slc22a29	UTSW	19	8,138,948 (GRCm39)	missense	possibly damaging	0.65
R4899:Slc22a29	UTSW	19	8,138,933 (GRCm39)	missense	probably benign	0.00
R4913:Slc22a29	UTSW	19	8,195,722 (GRCm39)	missense	probably benign	0.17
R5119:Slc22a29	UTSW	19	8,195,194 (GRCm39)	missense	probably damaging	0.99
R5470:Slc22a29	UTSW	19	8,138,880 (GRCm39)	missense	probably benign	0.01
R5474:Slc22a29	UTSW	19	8,195,221 (GRCm39)	missense	probably damaging	1.00
R6794:Slc22a29	UTSW	19	8,138,887 (GRCm39)	missense	probably benign	0.06
R6798:Slc22a29	UTSW	19	8,137,968 (GRCm39)	missense	probably benign	0.16
R7025:Slc22a29	UTSW	19	8,137,944 (GRCm39)	missense	probably benign
R7240:Slc22a29	UTSW	19	8,138,875 (GRCm39)	missense	probably damaging	0.98
R7535:Slc22a29	UTSW	19	8,147,342 (GRCm39)	missense	probably damaging	1.00
R7846:Slc22a29	UTSW	19	8,170,851 (GRCm39)	missense	probably benign	0.39
R8169:Slc22a29	UTSW	19	8,184,696 (GRCm39)	missense	probably damaging	1.00
R8275:Slc22a29	UTSW	19	8,146,681 (GRCm39)	missense	probably benign	0.00
R8403:Slc22a29	UTSW	19	8,139,004 (GRCm39)	missense	possibly damaging	0.95
R8872:Slc22a29	UTSW	19	8,137,931 (GRCm39)	missense	probably damaging	0.99
R9129:Slc22a29	UTSW	19	8,146,669 (GRCm39)	missense	probably benign	0.03
R9381:Slc22a29	UTSW	19	8,195,841 (GRCm39)	missense	probably benign	0.03
R9550:Slc22a29	UTSW	19	8,195,224 (GRCm39)	nonsense	probably null
R9645:Slc22a29	UTSW	19	8,184,488 (GRCm39)	missense	probably benign	0.04
R9673:Slc22a29	UTSW	19	8,140,104 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16