Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01687:Slc44a2'

103984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc44a2

Ensembl Gene

ENSMUSG00000057193

Gene Name

solute carrier family 44, member 2

Synonyms

CTL2, 1110028E10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01687

Quality Score

Status

Chromosome

Chromosomal Location

21232015-21266324 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21257243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 396 (V396A)

Ref Sequence

ENSEMBL: ENSMUSP00000034697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034697] [ENSMUST00000215574] [ENSMUST00000217461]

AlphaFold

Q8BY89

Predicted Effect

probably benign
Transcript: ENSMUST00000034697
AA Change: V396A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034697
Gene: ENSMUSG00000057193
AA Change: V396A

Domain	Start	End	E-Value	Type
Blast:CLECT	4	37	8e-8	BLAST
transmembrane domain	231	253	N/A	INTRINSIC
transmembrane domain	255	277	N/A	INTRINSIC
Pfam:Choline_transpo	319	678	3.9e-119	PFAM
low complexity region	691	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213499

Predicted Effect

probably benign
Transcript: ENSMUST00000213535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213758

Predicted Effect

probably benign
Transcript: ENSMUST00000214268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215528

Predicted Effect

probably benign
Transcript: ENSMUST00000215574
AA Change: V394A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000217461
AA Change: V394A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217453

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit cochlear hair cell loss, spiral ganglion degeneration, and progressive sensorineural hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,306,769 (GRCm39)		probably benign	Het
Cep290	C	T	10: 100,336,067 (GRCm39)	T375M	probably damaging	Het
Col1a2	A	T	6: 4,520,258 (GRCm39)	R348*	probably null	Het
Dph6	A	T	2: 114,475,259 (GRCm39)	Y85*	probably null	Het
Etl4	C	T	2: 20,534,898 (GRCm39)	H118Y	probably damaging	Het
Gprc5b	A	G	7: 118,583,209 (GRCm39)	F220S	possibly damaging	Het
Larp4	A	G	15: 99,894,369 (GRCm39)	T213A	probably damaging	Het
Mfn1	T	C	3: 32,617,515 (GRCm39)		probably benign	Het
Myo5a	T	C	9: 75,063,531 (GRCm39)	V579A	probably benign	Het
Nol11	T	C	11: 107,077,695 (GRCm39)	I65M	probably damaging	Het
Or2k2	A	T	4: 58,785,047 (GRCm39)	L225Q	probably damaging	Het
Pcdh18	T	C	3: 49,707,982 (GRCm39)		probably benign	Het
Prss30	T	C	17: 24,194,106 (GRCm39)	T17A	probably benign	Het
Rab11fip3	A	G	17: 26,286,956 (GRCm39)	L399P	probably damaging	Het
Tns3	A	G	11: 8,442,798 (GRCm39)	S522P	probably damaging	Het
Vmn2r94	A	T	17: 18,473,574 (GRCm39)	V484E	possibly damaging	Het
Zfp871	T	A	17: 32,994,618 (GRCm39)	T167S	probably benign	Het
Zmat3	C	T	3: 32,395,680 (GRCm39)	E276K	probably damaging	Het

Other mutations in Slc44a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:Slc44a2	APN	9	21,257,231 (GRCm39)	missense	probably damaging	0.96
IGL01506:Slc44a2	APN	9	21,249,246 (GRCm39)	missense	probably benign	0.30
IGL01786:Slc44a2	APN	9	21,263,782 (GRCm39)	missense	probably damaging	1.00
IGL01795:Slc44a2	APN	9	21,256,645 (GRCm39)	missense	probably damaging	0.97
IGL02338:Slc44a2	APN	9	21,258,338 (GRCm39)	missense	probably damaging	1.00
IGL02701:Slc44a2	APN	9	21,259,247 (GRCm39)	missense	probably benign	0.01
IGL02820:Slc44a2	APN	9	21,254,273 (GRCm39)	missense	probably benign
IGL03087:Slc44a2	APN	9	21,258,061 (GRCm39)	missense	probably benign	0.00
IGL03153:Slc44a2	APN	9	21,254,496 (GRCm39)	missense	probably benign	0.44
IGL03233:Slc44a2	APN	9	21,259,918 (GRCm39)	missense	possibly damaging	0.95
freighted	UTSW	9	21,253,265 (GRCm39)	missense	probably null	0.08
Loaded	UTSW	9	21,259,445 (GRCm39)	critical splice donor site	probably null
R1177:Slc44a2	UTSW	9	21,259,879 (GRCm39)	missense	probably benign	0.00
R1367:Slc44a2	UTSW	9	21,254,322 (GRCm39)	missense	probably benign	0.00
R1474:Slc44a2	UTSW	9	21,264,990 (GRCm39)	missense	probably damaging	0.99
R2077:Slc44a2	UTSW	9	21,265,020 (GRCm39)	missense	probably damaging	1.00
R2432:Slc44a2	UTSW	9	21,256,130 (GRCm39)	missense	probably damaging	1.00
R3722:Slc44a2	UTSW	9	21,254,273 (GRCm39)	missense	possibly damaging	0.78
R3958:Slc44a2	UTSW	9	21,259,837 (GRCm39)	missense	probably damaging	0.96
R4557:Slc44a2	UTSW	9	21,258,079 (GRCm39)	missense	possibly damaging	0.93
R4641:Slc44a2	UTSW	9	21,258,178 (GRCm39)	missense	probably damaging	1.00
R4725:Slc44a2	UTSW	9	21,259,691 (GRCm39)	missense	probably damaging	1.00
R4859:Slc44a2	UTSW	9	21,259,441 (GRCm39)	missense	probably damaging	0.98
R6701:Slc44a2	UTSW	9	21,232,149 (GRCm39)	critical splice donor site	probably null
R7068:Slc44a2	UTSW	9	21,232,144 (GRCm39)	missense	probably benign	0.00
R7206:Slc44a2	UTSW	9	21,258,103 (GRCm39)	missense	probably damaging	1.00
R7233:Slc44a2	UTSW	9	21,259,445 (GRCm39)	critical splice donor site	probably null
R7287:Slc44a2	UTSW	9	21,253,752 (GRCm39)	missense	probably benign
R7329:Slc44a2	UTSW	9	21,254,048 (GRCm39)	missense	probably damaging	1.00
R7432:Slc44a2	UTSW	9	21,254,511 (GRCm39)	missense	probably benign	0.00
R7442:Slc44a2	UTSW	9	21,256,819 (GRCm39)	missense	probably damaging	1.00
R7448:Slc44a2	UTSW	9	21,259,642 (GRCm39)	missense	possibly damaging	0.87
R7514:Slc44a2	UTSW	9	21,253,768 (GRCm39)	missense	possibly damaging	0.46
R7523:Slc44a2	UTSW	9	21,257,288 (GRCm39)	missense	probably null	0.81
R8167:Slc44a2	UTSW	9	21,258,068 (GRCm39)	missense	possibly damaging	0.67
R8211:Slc44a2	UTSW	9	21,259,434 (GRCm39)	missense	probably damaging	1.00
R8240:Slc44a2	UTSW	9	21,253,481 (GRCm39)	missense	probably benign
R8293:Slc44a2	UTSW	9	21,264,984 (GRCm39)	missense	probably damaging	1.00
R8294:Slc44a2	UTSW	9	21,259,643 (GRCm39)	missense	probably damaging	1.00
R8341:Slc44a2	UTSW	9	21,253,495 (GRCm39)	missense	probably benign	0.00
R8471:Slc44a2	UTSW	9	21,253,265 (GRCm39)	missense	probably null	0.08
R8732:Slc44a2	UTSW	9	21,259,882 (GRCm39)	missense	probably benign	0.01
R8892:Slc44a2	UTSW	9	21,253,153 (GRCm39)	splice site	probably benign
R9019:Slc44a2	UTSW	9	21,265,077 (GRCm39)	missense	probably damaging	0.99
R9149:Slc44a2	UTSW	9	21,253,305 (GRCm39)	missense	possibly damaging	0.67
R9318:Slc44a2	UTSW	9	21,253,268 (GRCm39)	missense	probably damaging	1.00
R9322:Slc44a2	UTSW	9	21,258,246 (GRCm39)	missense	probably damaging	1.00
R9449:Slc44a2	UTSW	9	21,258,333 (GRCm39)	missense
R9731:Slc44a2	UTSW	9	21,263,770 (GRCm39)	missense	possibly damaging	0.90
X0018:Slc44a2	UTSW	9	21,254,084 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-01-21