Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Slc44a4'

250830

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

2210409B01Rik, NG22

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2679 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

34914466-34930436 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34923423 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132965 (fasta)

Gene Model

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

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: 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: ENSMUST00000173664

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bpifb4	T	C	2: 153,948,624	I145T	probably damaging	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	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
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
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
R7954:Slc44a4	UTSW	17	34923852	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTATAGTGTATCCCTCCTGG -3'
(R):5'- TGCAGATTGTTCACTCCCAC -3'

Sequencing Primer
(F):5'- CTGGAATCAGGCGCTGG -3'
(R):5'- CCACAGAGGGTTGGCATTC -3'

Posted On

2014-12-04