Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01792:Slc22a29'

155242

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 #

IGL01792

Quality Score

Status

Chromosome

Chromosomal Location

8137529-8196264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8195893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 49 (C49S)

Ref Sequence

ENSEMBL: ENSMUSP00000152815 (fasta)

Gene Model

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

AlphaFold

Q8BWG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000113298
AA Change: C49S

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

SMART Domains

Protein: ENSMUSP00000108923
Gene: ENSMUSG00000075044
AA Change: C49S

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: 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 damaging
Transcript: ENSMUST00000222533
AA Change: C49S

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	G	T	17: 48,452,680 (GRCm39)	F86L	probably damaging	Het
A2ml1	T	C	6: 128,537,642 (GRCm39)	T690A	probably benign	Het
Adam3	T	C	8: 25,187,219 (GRCm39)	N424S	probably benign	Het
Adarb2	T	C	13: 8,620,185 (GRCm39)	F224L	probably damaging	Het
Clcn3	T	C	8: 61,382,356 (GRCm39)	T438A	probably damaging	Het
Cyp2c55	A	G	19: 39,030,631 (GRCm39)	I488V	probably benign	Het
Dennd1a	A	G	2: 38,016,592 (GRCm39)	F84S	probably damaging	Het
Dennd4b	A	G	3: 90,187,152 (GRCm39)	R1475G	probably damaging	Het
Ift172	G	A	5: 31,434,215 (GRCm39)	R508W	probably damaging	Het
Khdrbs2	C	T	1: 32,696,548 (GRCm39)	R326C	probably damaging	Het
Krt78	T	G	15: 101,855,085 (GRCm39)	M909L	probably benign	Het
Ncapg2	T	A	12: 116,389,438 (GRCm39)	F353I	probably damaging	Het
Or10d4c	A	T	9: 39,558,955 (GRCm39)	N311I	probably benign	Het
Pigb	A	T	9: 72,925,268 (GRCm39)	H396Q	probably damaging	Het
Rev3l	C	T	10: 39,699,336 (GRCm39)	P1278S	probably benign	Het
Setd1b	T	A	5: 123,295,209 (GRCm39)	V955D	unknown	Het
Slc22a16	T	A	10: 40,449,928 (GRCm39)	H121Q	possibly damaging	Het
Smad1	T	C	8: 80,098,752 (GRCm39)	K21E	probably damaging	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Spic	A	G	10: 88,515,807 (GRCm39)	I5T	possibly damaging	Het
Srpk1	G	A	17: 28,818,441 (GRCm39)		probably benign	Het
Tubgcp6	T	C	15: 88,985,484 (GRCm39)	D1559G	probably damaging	Het
Unc13b	T	C	4: 43,250,218 (GRCm39)	F992L	probably damaging	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
IGL00563: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
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

2014-02-04