Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00087:Slc44a4'

29215

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00087

Quality Score

Status

Chromosome

Chromosomal Location

34914466-34930436 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 34930240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]

AlphaFold

Q91VA1

Predicted Effect

probably benign
Transcript: ENSMUST00000007249

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

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: ENSMUST00000007253

SMART Domains

Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
Pfam:BNR_3	74	249	1e-16	PFAM
Pfam:BNR_2	82	377	1.8e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169230

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034

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: ENSMUST00000173269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174715

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	C	A	3: 121,679,633		probably benign	Het
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Actr2	C	A	11: 20,094,370	V79L	probably benign	Het
Ankrd36	A	C	11: 5,620,131	Y533S	probably benign	Het
Btnl1	A	T	17: 34,381,117	D198V	probably damaging	Het
Carmil2	T	A	8: 105,691,406	I684N	probably benign	Het
Ccdc129	T	A	6: 55,968,037	L581Q	possibly damaging	Het
Cdk17	T	A	10: 93,226,771	V257D	probably damaging	Het
Ctsj	T	G	13: 61,001,418	S271R	possibly damaging	Het
Cul9	T	A	17: 46,525,709	Q1130L	probably damaging	Het
Daam1	G	T	12: 71,942,219	S131I	unknown	Het
Dab1	A	T	4: 104,678,753	I120F	possibly damaging	Het
Dab1	G	A	4: 104,678,810	V139M	probably damaging	Het
Dnah2	A	G	11: 69,492,672	V1142A	possibly damaging	Het
Dsg1b	C	T	18: 20,396,476	T326I	probably damaging	Het
Eif3k	A	C	7: 28,974,676		probably benign	Het
Fam76b	T	C	9: 13,836,884	V3A	possibly damaging	Het
Fitm2	A	G	2: 163,469,792	V167A	probably benign	Het
Gfap	T	A	11: 102,888,718	I418F	possibly damaging	Het
Gm8857	C	T	5: 10,947,838		probably benign	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Itpr2	A	G	6: 146,397,012	I317T	probably damaging	Het
Kcnn2	A	C	18: 45,592,236	R266S	probably damaging	Het
Kntc1	T	A	5: 123,790,159	S1240T	probably benign	Het
Lmnb2	T	C	10: 80,904,037	D490G	possibly damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pax9	A	G	12: 56,700,075	N232S	probably benign	Het
Pdcd6ip	A	G	9: 113,697,518	S108P	possibly damaging	Het
Pitpnc1	T	C	11: 107,212,643	E210G	possibly damaging	Het
Prdm10	T	C	9: 31,360,812		probably benign	Het
Prl4a1	G	A	13: 28,021,460	G136E	probably damaging	Het
Pstpip2	A	G	18: 77,874,294	S255G	probably benign	Het
Rimbp3	T	G	16: 17,209,743	S344A	probably benign	Het
Rint1	A	G	5: 23,794,431	T73A	probably benign	Het
Rnf145	T	C	11: 44,555,212	V291A	possibly damaging	Het
Rrm1	T	A	7: 102,454,507	L221*	probably null	Het
Scn11a	A	G	9: 119,770,506	L1114P	probably benign	Het
Sorl1	A	C	9: 41,974,094	N2070K	probably damaging	Het
Spaca7	C	T	8: 12,580,941		probably benign	Het
Srsf6	G	T	2: 162,931,707	V13F	probably damaging	Het
Stab1	G	T	14: 31,161,357	T336N	probably benign	Het
Strbp	A	G	2: 37,586,504		probably benign	Het
Tbc1d4	A	G	14: 101,608,112	F117L	probably damaging	Het
Tcf20	A	G	15: 82,854,895	V785A	probably damaging	Het
Ticrr	A	G	7: 79,677,283	K580E	probably damaging	Het
Ubr4	A	T	4: 139,465,322	E4225D	possibly damaging	Het
Uck1	A	T	2: 32,259,669	V66D	probably damaging	Het
Vmn2r25	A	G	6: 123,853,171	F7S	probably benign	Het
Zan	C	T	5: 137,387,820		probably null	Het
Zfp819	T	A	7: 43,611,979		probably benign	Het

Other mutations in Slc44a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Slc44a4	APN	17	34921569	missense	probably damaging	0.97
IGL01296:Slc44a4	APN	17	34921698	missense	probably benign	0.39
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

Posted On

2013-04-17