Mutagenetix > Incidental Mutation

Incidental Mutation 'R8973:Slc44a4'

683283

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

2210409B01Rik, NG22

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8973 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34914466-34930436 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34921562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 244 (F244L)

Ref Sequence

ENSEMBL: ENSMUSP00000007249 (fasta)

Gene Model

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

AlphaFold

Q91VA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000007249
AA Change: F244L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: F244L

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 damaging
Transcript: ENSMUST00000169230
AA Change: F92L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: F92L

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

Meta Mutation Damage Score

0.3461

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (77/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	G	18: 57,592,067	L123V	possibly damaging	Het
1810022K09Rik	C	T	3: 14,607,245	V97I	probably benign	Het
2410089E03Rik	T	C	15: 8,203,793	W1201R	probably damaging	Het
4930404N11Rik	T	C	10: 81,364,015	D129G	unknown	Het
Adamts16	A	T	13: 70,738,840	I975N	probably benign	Het
Adcy8	A	G	15: 64,699,135	*1250Q	probably null	Het
Anapc1	A	T	2: 128,664,032	I628N	probably damaging	Het
Ankrd39	C	T	1: 36,539,358		probably benign	Het
Ankub1	A	T	3: 57,665,511	S263R	possibly damaging	Het
Aoah	A	G	13: 20,840,155	I94V	probably benign	Het
Aox2	A	G	1: 58,289,954	D186G	probably benign	Het
Arap2	A	T	5: 62,698,325	C589*	probably null	Het
Armt1	T	C	10: 4,439,550	L69P	probably damaging	Het
Atxn7l3	T	A	11: 102,292,772	Y185F	probably benign	Het
BC067074	A	G	13: 113,319,759	T780A		Het
Cacna2d4	A	G	6: 119,241,181	D159G	probably damaging	Het
Camta2	C	A	11: 70,670,358	R1184L	probably benign	Het
Ccr7	G	A	11: 99,145,823	T91I	probably damaging	Het
Cdh9	A	G	15: 16,831,045	T323A	possibly damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Clec2e	C	A	6: 129,093,411	G216*	probably null	Het
Col25a1	T	C	3: 130,475,626	S176P	unknown	Het
Col4a3	A	C	1: 82,715,331	I1446L	probably benign	Het
Cse1l	A	G	2: 166,943,080	E823G	probably damaging	Het
Dchs2	A	G	3: 83,354,456	E2677G	possibly damaging	Het
Dis3l	T	C	9: 64,339,542	E77G	probably damaging	Het
Dnah6	T	C	6: 73,144,751	D1416G	probably benign	Het
Dpyd	T	C	3: 119,314,933		probably null	Het
Dst	A	G	1: 34,228,855	D3112G	probably damaging	Het
Dusp13	A	C	14: 21,734,906	N128K	probably benign	Het
Emilin2	T	G	17: 71,275,084	K216Q	probably benign	Het
Enam	T	C	5: 88,494,088	W254R	possibly damaging	Het
Esrrg	A	C	1: 188,198,750	N346T	possibly damaging	Het
Fbn2	C	T	18: 58,153,856	G244R	probably damaging	Het
Fbxw25	A	G	9: 109,650,064	L373P		Het
Gm21060	C	A	19: 61,296,928	V48L	possibly damaging	Het
Gm30302	A	T	13: 49,788,239	D80E	probably benign	Het
Gtpbp3	T	C	8: 71,491,162	V254A	possibly damaging	Het
H2-DMb2	A	G	17: 34,148,725	D171G	probably damaging	Het
Hrg	A	T	16: 22,959,218	T242S	probably benign	Het
Inf2	G	T	12: 112,607,515	C751F	unknown	Het
Krt13	A	T	11: 100,119,438	M239K	possibly damaging	Het
Lrrc72	A	G	12: 36,253,294	S7P	probably benign	Het
Matn2	A	G	15: 34,433,050	I867V	probably benign	Het
Mdh2	C	T	5: 135,790,165	A325V	possibly damaging	Het
Mki67	C	A	7: 135,695,635	A2557S	possibly damaging	Het
Mrpl16	A	T	19: 11,772,943	R64*	probably null	Het
Nav1	T	C	1: 135,584,725	D199G	probably benign	Het
Nbn	T	C	4: 15,986,585	V662A	probably damaging	Het
Nek10	G	A	14: 14,931,321		probably null	Het
Olfr141	C	A	2: 86,806,856	V48F	probably benign	Het
Olfr298	A	G	7: 86,489,279	S91P	probably damaging	Het
Olfr834	C	A	9: 18,988,678	S230*	probably null	Het
Olfr884	T	A	9: 38,047,543	V107D	possibly damaging	Het
Pcsk7	T	G	9: 45,927,642	S617R	probably benign	Het
Pde10a	C	A	17: 8,924,239	Q6K	probably benign	Het
Pigq	A	C	17: 25,932,167	M396R	probably damaging	Het
Pkhd1l1	T	A	15: 44,586,437	D3865E	probably damaging	Het
Prag1	C	T	8: 36,099,590		probably benign	Het
Rint1	A	G	5: 23,811,730	T498A	probably benign	Het
Rnf213	T	A	11: 119,461,930	F3921I		Het
Rpp14	A	G	14: 8,088,768	S95G	probably benign	Het
Ryk	T	G	9: 102,861,921	Y78D	possibly damaging	Het
Sez6	A	T	11: 77,974,571	Q678L	probably damaging	Het
Slc22a21	T	C	11: 53,969,576	K141E	probably damaging	Het
Slc30a5	A	T	13: 100,806,694	I609K	probably damaging	Het
Susd5	T	C	9: 114,082,504	Y161H	possibly damaging	Het
Syne3	A	G	12: 104,959,395		probably null	Het
Tbcd	G	C	11: 121,496,853		probably benign	Het
Tmc1	A	T	19: 20,900,851	N93K	probably benign	Het
Tmem100	T	A	11: 90,035,476	M43K	probably benign	Het
Tmem131l	A	T	3: 83,928,732	V690D	probably damaging	Het
Trim8	A	G	19: 46,515,464	Q485R	possibly damaging	Het
Vmn2r63	A	T	7: 42,928,495	H206Q	probably benign	Het
Vmn2r77	T	A	7: 86,802,942	N443K	possibly damaging	Het
Zan	T	A	5: 137,389,316	I4878F	unknown	Het
Zfand4	A	G	6: 116,314,080	D344G	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATTCTCGTGTGAGTCCATGGC -3'
(R):5'- AGGCACTGAAGTTGGTAGTG -3'

Sequencing Primer
(F):5'- CCAAGTCTACATGTGAACTGATCAG -3'
(R):5'- CACTGAAGTTGGTAGTGAAGCCC -3'

Posted On

2021-10-11