Mutagenetix > Incidental Mutations

Incidental Mutation 'R6005:Slc44a4'

479451

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34914466-34930436 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34923454 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 353 (M353K)

Ref Sequence

ENSEMBL: ENSMUSP00000007249 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007249
AA Change: M353K

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: M353K

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

possibly damaging
Transcript: ENSMUST00000169230
AA Change: M201K

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: M201K

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: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	G	T	5: 124,340,774	E153*	probably null	Het
4930412O13Rik	T	C	2: 9,882,827		probably benign	Het
7530416G11Rik	A	T	15: 85,494,109	I111N	unknown	Het
Adgb	C	T	10: 10,395,352	R849H	probably damaging	Het
Ahnak	T	C	19: 9,015,161	V4603A	possibly damaging	Het
AI464131	T	A	4: 41,498,895	H245L	probably benign	Het
Ank1	A	G	8: 23,132,202	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,040,115	D70G	probably damaging	Het
Arid2	T	C	15: 96,370,972	S989P	probably benign	Het
Bbs1	A	T	19: 4,903,795	Y113*	probably null	Het
Bfsp2	T	G	9: 103,448,550	K298T	probably damaging	Het
Bpi	G	A	2: 158,262,480	V168I	possibly damaging	Het
Cacna2d1	T	C	5: 16,361,821	S921P	probably damaging	Het
Clec4d	A	C	6: 123,267,159	T76P	probably damaging	Het
Coq8b	C	T	7: 27,257,325	Q468*	probably null	Het
Dennd6b	T	C	15: 89,188,168	E248G	possibly damaging	Het
Ednra	A	G	8: 77,674,927	S245P	possibly damaging	Het
Epb41l4a	C	T	18: 33,828,143	C446Y	probably benign	Het
Fam221a	A	G	6: 49,367,822		probably benign	Het
Fam229a	T	C	4: 129,491,503	S76P	probably benign	Het
Fryl	C	T	5: 73,083,295	D1321N	probably damaging	Het
Gli2	C	T	1: 118,842,064	R586H	probably damaging	Het
Gm13089	T	A	4: 143,698,432	H147L	probably benign	Het
Gm94	C	T	18: 43,792,797	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,690,751	V355A	probably benign	Het
Grid1	C	A	14: 35,323,412	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,255,958	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518		probably null	Het
Hs3st5	T	A	10: 36,832,928	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887		probably null	Het
Ireb2	G	A	9: 54,908,805	G887S	probably damaging	Het
Kdsr	T	C	1: 106,734,581	E248G	probably benign	Het
Lemd2	C	G	17: 27,190,785	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,114,611	V246A	probably damaging	Het
Macf1	T	A	4: 123,474,275	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,281,019	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,281,492	D433G	possibly damaging	Het
Mir700	C	A	4: 135,412,307		probably null	Het
Mroh9	A	T	1: 163,075,677	F52L	probably damaging	Het
Mycbp2	A	C	14: 103,156,723	S2691A	probably benign	Het
Nktr	T	A	9: 121,748,394		probably benign	Het
Obsl1	C	A	1: 75,492,215		probably null	Het
Olfr1130	A	T	2: 87,608,080	I231F	probably damaging	Het
Olfr251	T	C	9: 38,378,309	S137P	probably damaging	Het
Olfr259	A	G	2: 87,108,063	V108A	probably benign	Het
Olfr582	A	T	7: 103,041,646	I51F	probably damaging	Het
Olfr855	C	T	9: 19,584,885	T116I	probably benign	Het
Pcdhb22	T	A	18: 37,519,736	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,479,202		probably null	Het
Pds5b	A	G	5: 150,769,776		probably null	Het
Pkd1l1	A	C	11: 8,857,113	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,719,468	M258K	possibly damaging	Het
Prss12	A	T	3: 123,482,768	I349F	probably benign	Het
Ptpn21	A	G	12: 98,678,552	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,567	K1125M	probably benign	Het
Rnf182	A	G	13: 43,668,035	K21E	probably damaging	Het
Rpl6	G	A	5: 121,205,514		probably benign	Het
Samsn1	C	T	16: 75,873,514	V234I	probably benign	Het
Scrib	A	G	15: 76,057,751	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,363,878	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,562,465	R606L	possibly damaging	Het
Sipa1	A	G	19: 5,656,201	V367A	probably damaging	Het
Slc25a44	C	T	3: 88,412,846	E269K	probably damaging	Het
Sorcs2	A	G	5: 36,019,384	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,418,599	F352L	probably damaging	Het
Synj1	A	T	16: 90,969,286	N541K	probably damaging	Het
Tas2r113	G	A	6: 132,893,696	R229K	probably benign	Het
Tcaf3	A	T	6: 42,589,971	I728K	probably benign	Het
Tcea1	A	G	1: 4,890,773	E167G	probably benign	Het
Timeless	G	A	10: 128,244,200	R406H	probably damaging	Het
Traf6	C	T	2: 101,696,684	R260*	probably null	Het
Traj31	C	T	14: 54,187,931		probably benign	Het
Ttn	A	T	2: 76,769,563	V19089D	probably damaging	Het
Unc80	C	T	1: 66,627,257	S1868L	possibly damaging	Het
Wdr38	A	T	2: 39,001,321	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,323		probably benign	Het
Wnt5b	G	A	6: 119,433,654	P288L	probably benign	Het
Xkr5	G	T	8: 18,934,505	N174K	probably benign	Het
Zbtb6	C	T	2: 37,428,965	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218		probably null	Het
Zfp647	G	A	15: 76,912,085	P125L	probably 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
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
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'- CCCAGCAAGAGCCTATAGTG -3'
(R):5'- GCAGATTGTTCACTCCCACAG -3'

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

Posted On

2017-06-26