Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Slc44a4'

73134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

2210409B01Rik, NG22

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

34914466-34930436 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34921698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 289 (T289I)

Ref Sequence

ENSEMBL: ENSMUSP00000007249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000169230]

AlphaFold

Q91VA1

Predicted Effect

probably benign
Transcript: ENSMUST00000007249
AA Change: T289I

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: T289I

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC
Pfam:Choline_transpo	311	674	5.4e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169230
AA Change: T137I

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: T137I

Domain	Start	End	E-Value	Type
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
Pfam:Choline_transpo	157	524	3.9e-129	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173664

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	Het

Other mutations in Slc44a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Slc44a4	APN	17	34930240	utr 3 prime	probably benign
IGL01097:Slc44a4	APN	17	34921569	missense	probably damaging	0.97
IGL01606:Slc44a4	APN	17	34929018	missense	probably damaging	1.00
IGL01759:Slc44a4	APN	17	34921243	missense	probably benign	0.00
IGL02026:Slc44a4	APN	17	34921856	splice site	probably benign
IGL02119:Slc44a4	APN	17	34928661	missense	probably damaging	1.00
IGL02338:Slc44a4	APN	17	34923810	missense	possibly damaging	0.90
IGL02383:Slc44a4	APN	17	34927710	missense	probably benign	0.00
IGL02526:Slc44a4	APN	17	34928487	missense	probably damaging	0.99
IGL02744:Slc44a4	APN	17	34927800	missense	probably damaging	1.00
IGL02754:Slc44a4	APN	17	34921303	missense	probably damaging	0.98
ANU74:Slc44a4	UTSW	17	34921578	missense	probably damaging	1.00
PIT4142001:Slc44a4	UTSW	17	34921275	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	34921254	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	34921254	missense	probably damaging	0.99
R0452:Slc44a4	UTSW	17	34928095	missense	possibly damaging	0.82
R0894:Slc44a4	UTSW	17	34928490	missense	possibly damaging	0.92
R1136:Slc44a4	UTSW	17	34928022	missense	probably damaging	1.00
R1224:Slc44a4	UTSW	17	34921868	missense	probably benign	0.18
R1779:Slc44a4	UTSW	17	34921925	missense	probably damaging	1.00
R2679:Slc44a4	UTSW	17	34923423	splice site	probably benign
R3499:Slc44a4	UTSW	17	34921680	missense	probably benign	0.02
R3732:Slc44a4	UTSW	17	34921561	synonymous	silent
R4084:Slc44a4	UTSW	17	34917347	missense	probably damaging	1.00
R4197:Slc44a4	UTSW	17	34918252	missense	probably benign	0.12
R4536:Slc44a4	UTSW	17	34923839	missense	probably damaging	1.00
R4547:Slc44a4	UTSW	17	34927755	missense	probably damaging	1.00
R5093:Slc44a4	UTSW	17	34921243	missense	probably benign	0.00
R6005:Slc44a4	UTSW	17	34923454	missense	possibly damaging	0.69
R6396:Slc44a4	UTSW	17	34928884	nonsense	probably null
R6660:Slc44a4	UTSW	17	34930225	missense	probably damaging	0.99
R6860:Slc44a4	UTSW	17	34921068	missense	probably damaging	1.00
R6863:Slc44a4	UTSW	17	34923822	missense	probably benign	0.41
R6947:Slc44a4	UTSW	17	34928068	missense	probably null	1.00
R7250:Slc44a4	UTSW	17	34918544	critical splice donor site	probably null
R7297:Slc44a4	UTSW	17	34927912	missense	probably damaging	0.98
R7425:Slc44a4	UTSW	17	34921691	missense	possibly damaging	0.94
R7696:Slc44a4	UTSW	17	34928700	missense	probably damaging	1.00
R7871:Slc44a4	UTSW	17	34923852	critical splice donor site	probably null
R8244:Slc44a4	UTSW	17	34921572	missense	probably damaging	1.00
R8331:Slc44a4	UTSW	17	34921569	missense	probably damaging	1.00
R8681:Slc44a4	UTSW	17	34928277	missense	possibly damaging	0.91
R8929:Slc44a4	UTSW	17	34917532	missense	probably damaging	1.00
R8973:Slc44a4	UTSW	17	34921562	missense	probably damaging	1.00
R9345:Slc44a4	UTSW	17	34921243	missense	probably benign	0.03
R9610:Slc44a4	UTSW	17	34928817	missense	probably benign	0.18
R9611:Slc44a4	UTSW	17	34928817	missense	probably benign	0.18
R9729:Slc44a4	UTSW	17	34921694	missense	probably benign	0.01
R9755:Slc44a4	UTSW	17	34917355	missense	probably benign

Posted On

2013-10-07