Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03219:Slc44a3'

413573

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03219

Quality Score

Status

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121463520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 508 (T508I)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039197]

AlphaFold

Q921V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039197
AA Change: T508I

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

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: T508I

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	217	239	N/A	INTRINSIC
transmembrane domain	244	266	N/A	INTRINSIC
Pfam:Choline_transpo	291	607	2.3e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198335

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
Clasp2	T	C	9: 113,848,477		probably benign	Het
Ctss	C	T	3: 95,543,100	R121W	possibly damaging	Het
Cyp2c67	A	T	19: 39,643,294	M153K	possibly damaging	Het
Cyp2d34	T	C	15: 82,618,539	H162R	probably benign	Het
Dynlrb2	A	T	8: 116,514,896	I60F	probably benign	Het
E4f1	C	T	17: 24,445,445		probably null	Het
Fzd6	T	A	15: 39,031,576	V379E	probably damaging	Het
Galnt13	T	C	2: 54,933,435	V341A	possibly damaging	Het
Hip1	T	C	5: 135,457,050	S100G	probably benign	Het
Ncapd3	T	C	9: 27,063,873		probably benign	Het
Obox3	G	A	7: 15,625,878	L289F	probably damaging	Het
Olfr605	C	T	7: 103,442,538	G195E	possibly damaging	Het
Olfr914	G	T	9: 38,606,951	C162F	probably benign	Het
Pkhd1l1	G	A	15: 44,596,895	E4167K	possibly damaging	Het
Pphln1	T	C	15: 93,465,255		probably benign	Het
Ranbp6	A	T	19: 29,810,280	W891R	probably damaging	Het
Rgs22	A	T	15: 36,107,048	L64Q	probably damaging	Het
Ripor2	A	T	13: 24,723,719	Y991F	probably damaging	Het
Senp2	T	A	16: 22,014,264		probably benign	Het
Tdrd6	T	C	17: 43,627,964	D731G	probably benign	Het
Thnsl1	T	A	2: 21,212,406	C324S	probably benign	Het
Tnfrsf11b	A	T	15: 54,254,178	L227*	probably null	Het
Tulp4	T	C	17: 6,139,010	C36R	probably damaging	Het

Other mutations in Slc44a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Slc44a3	APN	3	121527193	missense	probably damaging	1.00
IGL01527:Slc44a3	APN	3	121527128	missense	probably damaging	1.00
IGL02304:Slc44a3	APN	3	121527074	missense	possibly damaging	0.48
IGL02419:Slc44a3	APN	3	121490257	missense	probably benign	0.03
IGL02836:Slc44a3	APN	3	121531717	missense	probably damaging	1.00
IGL02937:Slc44a3	APN	3	121510321	splice site	probably benign
BB009:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
BB019:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
R0597:Slc44a3	UTSW	3	121460070	missense	probably benign
R0668:Slc44a3	UTSW	3	121510203	missense	probably damaging	0.96
R1355:Slc44a3	UTSW	3	121531671	missense	probably damaging	1.00
R1608:Slc44a3	UTSW	3	121497847	nonsense	probably null
R1617:Slc44a3	UTSW	3	121461265	missense	probably benign	0.19
R1912:Slc44a3	UTSW	3	121532166	missense	probably benign	0.00
R2027:Slc44a3	UTSW	3	121463410	splice site	probably benign
R2087:Slc44a3	UTSW	3	121525670	missense	probably damaging	0.99
R2199:Slc44a3	UTSW	3	121513744	missense	probably benign	0.02
R4707:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R4736:Slc44a3	UTSW	3	121510206	missense	probably damaging	0.97
R4784:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R4785:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R5302:Slc44a3	UTSW	3	121510313	missense	probably damaging	1.00
R5835:Slc44a3	UTSW	3	121527200	missense	probably benign	0.03
R6252:Slc44a3	UTSW	3	121513737	missense	probably damaging	0.99
R6991:Slc44a3	UTSW	3	121532165	missense	probably benign	0.01
R7197:Slc44a3	UTSW	3	121525762	missense	probably benign	0.02
R7227:Slc44a3	UTSW	3	121510230	missense	possibly damaging	0.93
R7272:Slc44a3	UTSW	3	121461115	missense	probably damaging	0.99
R7932:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
R8104:Slc44a3	UTSW	3	121497872	missense	probably benign	0.01
R8529:Slc44a3	UTSW	3	121525685	missense	probably benign	0.36
R8679:Slc44a3	UTSW	3	121490269	missense	probably damaging	1.00
R8856:Slc44a3	UTSW	3	121513807	missense	probably damaging	1.00
R9053:Slc44a3	UTSW	3	121527190	missense	probably damaging	1.00
R9121:Slc44a3	UTSW	3	121461137	missense	probably benign	0.00
R9360:Slc44a3	UTSW	3	121532259	start gained	probably benign
Z1176:Slc44a3	UTSW	3	121532251	start gained	probably benign
Z1177:Slc44a3	UTSW	3	121497750	missense	probably benign	0.07

Posted On

2016-08-02