Mutagenetix > Incidental Mutation

Incidental Mutation 'R1779:Slc44a4'

197395

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

2210409B01Rik, NG22

MMRRC Submission

039810-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1779 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

34914466-34930436 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34921925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 180 (I180T)

Ref Sequence

ENSEMBL: ENSMUSP00000132965 (fasta)

Gene Model

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

AlphaFold

Q91VA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000007249
AA Change: I332T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: I332T

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: I180T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: I180T

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

Meta Mutation Damage Score

0.6183

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (101/104)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	G	3: 124,406,514 (GRCm38)	L476F	probably damaging	Het
1700061G19Rik	T	A	17: 56,885,169 (GRCm38)	Y577*	probably null	Het
4930432E11Rik	A	T	7: 29,579,166 (GRCm38)		noncoding transcript	Het
A930011G23Rik	A	T	5: 99,223,038 (GRCm38)		probably benign	Het
Abcd3	A	G	3: 121,781,963 (GRCm38)	Y217H	probably damaging	Het
Abraxas1	A	T	5: 100,817,956 (GRCm38)		probably benign	Het
Acsbg1	T	C	9: 54,616,062 (GRCm38)	Y427C	probably damaging	Het
Adam10	T	A	9: 70,776,369 (GRCm38)		probably benign	Het
Adam24	G	A	8: 40,680,965 (GRCm38)	V491I	possibly damaging	Het
Adamts2	T	G	11: 50,756,697 (GRCm38)	V299G	probably damaging	Het
Adh7	A	G	3: 138,223,991 (GRCm38)	T143A	probably damaging	Het
Ahcyl1	A	G	3: 107,674,103 (GRCm38)	S81P	probably benign	Het
Arhgap20	C	A	9: 51,849,915 (GRCm38)	T986K	probably benign	Het
Atp13a5	A	T	16: 29,314,660 (GRCm38)	I391N	possibly damaging	Het
Atp6v0a1	C	A	11: 101,026,685 (GRCm38)	A143E	probably benign	Het
Calcrl	A	G	2: 84,351,285 (GRCm38)	I173T	probably damaging	Het
Casz1	A	G	4: 148,932,937 (GRCm38)	T228A	probably benign	Het
Cckar	A	G	5: 53,699,979 (GRCm38)	I292T	probably damaging	Het
Cfhr2	T	A	1: 139,858,645 (GRCm38)		probably null	Het
Chkb	T	C	15: 89,429,057 (GRCm38)	I109V	possibly damaging	Het
Clec2i	T	C	6: 128,888,106 (GRCm38)		probably null	Het
Clec4a4	T	A	6: 123,023,975 (GRCm38)	W216R	probably damaging	Het
Cntnap1	A	C	11: 101,186,511 (GRCm38)	I1000L	probably damaging	Het
Cp	C	A	3: 19,957,385 (GRCm38)	D34E	possibly damaging	Het
Cse1l	T	C	2: 166,940,124 (GRCm38)		probably null	Het
Dennd3	T	C	15: 73,522,508 (GRCm38)		probably null	Het
Dnah7a	A	G	1: 53,577,223 (GRCm38)	V1193A	probably benign	Het
Eaf2	A	G	16: 36,810,470 (GRCm38)		probably null	Het
Ephb2	T	C	4: 136,693,825 (GRCm38)	T405A	possibly damaging	Het
Fam117a	G	A	11: 95,378,953 (GRCm38)	V348M	probably damaging	Het
Fh1	T	C	1: 175,601,424 (GRCm38)	*167W	probably null	Het
Fmo9	T	A	1: 166,663,299 (GRCm38)	I486F	probably benign	Het
Gabbr1	T	A	17: 37,054,879 (GRCm38)	I150N	probably damaging	Het
Gfpt1	T	C	6: 87,077,197 (GRCm38)	V478A	possibly damaging	Het
Gm11639	T	A	11: 104,720,939 (GRCm38)	S536T	probably benign	Het
Gm2663	A	T	6: 40,997,960 (GRCm38)	V59E	probably damaging	Het
Gm4868	T	A	5: 125,848,112 (GRCm38)		noncoding transcript	Het
Heatr4	T	A	12: 83,980,160 (GRCm38)	T108S	probably benign	Het
Hells	G	T	19: 38,946,842 (GRCm38)	A319S	probably benign	Het
Helz2	T	A	2: 181,238,459 (GRCm38)	Q488L	possibly damaging	Het
Helz2	A	G	2: 181,234,987 (GRCm38)	V1238A	probably benign	Het
Hkdc1	A	G	10: 62,391,383 (GRCm38)	F765S	probably damaging	Het
Hspg2	T	A	4: 137,518,509 (GRCm38)	W938R	probably damaging	Het
Itpr2	G	A	6: 146,158,901 (GRCm38)	R2473*	probably null	Het
Kctd1	C	T	18: 15,061,782 (GRCm38)	V595I	probably benign	Het
Krt7	A	G	15: 101,423,409 (GRCm38)	Y369C	probably damaging	Het
Krt72	T	C	15: 101,780,929 (GRCm38)	T323A	probably benign	Het
Krt76	A	G	15: 101,892,687 (GRCm38)	L58P	unknown	Het
Liph	C	A	16: 21,968,050 (GRCm38)	R272L	probably benign	Het
Lrrc9	A	T	12: 72,455,998 (GRCm38)	K248*	probably null	Het
Mei4	T	A	9: 81,927,142 (GRCm38)	S93T	probably damaging	Het
Mgll	T	A	6: 88,813,948 (GRCm38)	Y183*	probably null	Het
Myo5b	A	G	18: 74,742,147 (GRCm38)	M1541V	probably benign	Het
Napg	A	G	18: 62,982,691 (GRCm38)	E66G	probably benign	Het
Npr3	T	C	15: 11,851,486 (GRCm38)	D406G	probably damaging	Het
Nr2c2	A	G	6: 92,159,243 (GRCm38)	T355A	possibly damaging	Het
Olfr1243	A	T	2: 89,527,645 (GRCm38)	I255K	probably benign	Het
Olfr1461	T	C	19: 13,165,040 (GRCm38)	Y9H	probably benign	Het
Olfr26	A	G	9: 38,855,550 (GRCm38)	M163V	possibly damaging	Het
Olfr618	A	T	7: 103,597,900 (GRCm38)	I195F	probably damaging	Het
Olfr624	A	G	7: 103,670,638 (GRCm38)	I131T	probably benign	Het
Olfr631	G	T	7: 103,929,461 (GRCm38)	V213L	probably benign	Het
Olfr71	G	A	4: 43,706,041 (GRCm38)	H176Y	probably damaging	Het
Orai2	T	C	5: 136,150,939 (GRCm38)	E80G	probably damaging	Het
Pcdhb14	T	A	18: 37,449,482 (GRCm38)	V547E	probably damaging	Het
Pcdhb15	T	C	18: 37,476,031 (GRCm38)	I772T	possibly damaging	Het
Pcnt	T	C	10: 76,408,796 (GRCm38)	Q1150R	probably damaging	Het
Pdcd6	A	G	13: 74,305,581 (GRCm38)	I146T	probably damaging	Het
Phldb2	T	A	16: 45,801,625 (GRCm38)	D664V	probably damaging	Het
Pik3ap1	A	T	19: 41,332,234 (GRCm38)	V182E	probably damaging	Het
Pip4k2a	A	G	2: 18,847,622 (GRCm38)	V283A	probably benign	Het
Pkdrej	A	G	15: 85,821,171 (GRCm38)	V188A	possibly damaging	Het
Pnpla6	T	C	8: 3,541,404 (GRCm38)	W1151R	probably damaging	Het
Ppp1r14c	A	G	10: 3,366,890 (GRCm38)	Y75C	probably damaging	Het
Prl2b1	C	T	13: 27,383,469 (GRCm38)	D224N	probably benign	Het
Ptgis	A	G	2: 167,214,858 (GRCm38)	S270P	probably benign	Het
Rgs11	C	A	17: 26,210,666 (GRCm38)	A446D	probably damaging	Het
Rims2	A	G	15: 39,681,702 (GRCm38)	T1531A	probably damaging	Het
Sbno1	A	T	5: 124,388,517 (GRCm38)		probably benign	Het
Scarb2	C	G	5: 92,448,557 (GRCm38)	M409I	probably benign	Het
Scube3	C	T	17: 28,168,379 (GRCm38)		probably benign	Het
Slc9a2	T	C	1: 40,742,643 (GRCm38)	M344T	probably damaging	Het
Smc3	A	T	19: 53,639,369 (GRCm38)	T860S	probably benign	Het
Snrpa	A	G	7: 27,191,749 (GRCm38)	I99T	probably benign	Het
Sorcs1	A	G	19: 50,175,043 (GRCm38)		probably benign	Het
Sorl1	C	T	9: 41,991,482 (GRCm38)		probably null	Het
Suds3	T	C	5: 117,105,244 (GRCm38)	K143R	probably benign	Het
Supt20	A	T	3: 54,714,743 (GRCm38)	M424L	probably benign	Het
Tgtp2	T	C	11: 49,058,924 (GRCm38)	M274V	probably benign	Het
Tmem158	T	A	9: 123,259,909 (GRCm38)	M213L	probably benign	Het
Tnks	C	A	8: 34,857,518 (GRCm38)	R639L	probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Trmt10c	A	C	16: 56,034,575 (GRCm38)	N232K	possibly damaging	Het
Trpm6	C	T	19: 18,856,217 (GRCm38)	R1587W	probably damaging	Het
Trrap	G	A	5: 144,828,590 (GRCm38)	V2539I	probably benign	Het
Tsg101	A	G	7: 46,907,087 (GRCm38)	S115P	probably benign	Het
Ttll13	G	T	7: 80,260,508 (GRCm38)	V800L	probably benign	Het
Vmn1r57	A	G	7: 5,220,577 (GRCm38)	T34A	possibly damaging	Het
Vmn2r118	T	A	17: 55,611,530 (GRCm38)	T121S	probably benign	Het
Wdr35	A	G	12: 8,985,772 (GRCm38)	I238M	possibly damaging	Het
Wisp2	G	A	2: 163,828,986 (GRCm38)	V138M	probably damaging	Het
Zfp81	T	A	17: 33,335,106 (GRCm38)	T245S	probably benign	Het
Zfyve26	G	T	12: 79,278,463 (GRCm38)	P824Q	probably damaging	Het

Other mutations in Slc44a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Slc44a4	APN	17	34,930,240 (GRCm38)	utr 3 prime	probably benign
IGL01097:Slc44a4	APN	17	34,921,569 (GRCm38)	missense	probably damaging	0.97
IGL01296:Slc44a4	APN	17	34,921,698 (GRCm38)	missense	probably benign	0.39
IGL01606:Slc44a4	APN	17	34,929,018 (GRCm38)	missense	probably damaging	1.00
IGL01759:Slc44a4	APN	17	34,921,243 (GRCm38)	missense	probably benign	0.00
IGL02026:Slc44a4	APN	17	34,921,856 (GRCm38)	splice site	probably benign
IGL02119:Slc44a4	APN	17	34,928,661 (GRCm38)	missense	probably damaging	1.00
IGL02338:Slc44a4	APN	17	34,923,810 (GRCm38)	missense	possibly damaging	0.90
IGL02383:Slc44a4	APN	17	34,927,710 (GRCm38)	missense	probably benign	0.00
IGL02526:Slc44a4	APN	17	34,928,487 (GRCm38)	missense	probably damaging	0.99
IGL02744:Slc44a4	APN	17	34,927,800 (GRCm38)	missense	probably damaging	1.00
IGL02754:Slc44a4	APN	17	34,921,303 (GRCm38)	missense	probably damaging	0.98
ANU74:Slc44a4	UTSW	17	34,921,578 (GRCm38)	missense	probably damaging	1.00
PIT4142001:Slc44a4	UTSW	17	34,921,275 (GRCm38)	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	34,921,254 (GRCm38)	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	34,921,254 (GRCm38)	missense	probably damaging	0.99
R0452:Slc44a4	UTSW	17	34,928,095 (GRCm38)	missense	possibly damaging	0.82
R0894:Slc44a4	UTSW	17	34,928,490 (GRCm38)	missense	possibly damaging	0.92
R1136:Slc44a4	UTSW	17	34,928,022 (GRCm38)	missense	probably damaging	1.00
R1224:Slc44a4	UTSW	17	34,921,868 (GRCm38)	missense	probably benign	0.18
R2679:Slc44a4	UTSW	17	34,923,423 (GRCm38)	splice site	probably benign
R3499:Slc44a4	UTSW	17	34,921,680 (GRCm38)	missense	probably benign	0.02
R3732:Slc44a4	UTSW	17	34,921,561 (GRCm38)	synonymous	silent
R4084:Slc44a4	UTSW	17	34,917,347 (GRCm38)	missense	probably damaging	1.00
R4197:Slc44a4	UTSW	17	34,918,252 (GRCm38)	missense	probably benign	0.12
R4536:Slc44a4	UTSW	17	34,923,839 (GRCm38)	missense	probably damaging	1.00
R4547:Slc44a4	UTSW	17	34,927,755 (GRCm38)	missense	probably damaging	1.00
R5093:Slc44a4	UTSW	17	34,921,243 (GRCm38)	missense	probably benign	0.00
R6005:Slc44a4	UTSW	17	34,923,454 (GRCm38)	missense	possibly damaging	0.69
R6396:Slc44a4	UTSW	17	34,928,884 (GRCm38)	nonsense	probably null
R6660:Slc44a4	UTSW	17	34,930,225 (GRCm38)	missense	probably damaging	0.99
R6860:Slc44a4	UTSW	17	34,921,068 (GRCm38)	missense	probably damaging	1.00
R6863:Slc44a4	UTSW	17	34,923,822 (GRCm38)	missense	probably benign	0.41
R6947:Slc44a4	UTSW	17	34,928,068 (GRCm38)	missense	probably null	1.00
R7250:Slc44a4	UTSW	17	34,918,544 (GRCm38)	critical splice donor site	probably null
R7297:Slc44a4	UTSW	17	34,927,912 (GRCm38)	missense	probably damaging	0.98
R7425:Slc44a4	UTSW	17	34,921,691 (GRCm38)	missense	possibly damaging	0.94
R7696:Slc44a4	UTSW	17	34,928,700 (GRCm38)	missense	probably damaging	1.00
R7871:Slc44a4	UTSW	17	34,923,852 (GRCm38)	critical splice donor site	probably null
R8244:Slc44a4	UTSW	17	34,921,572 (GRCm38)	missense	probably damaging	1.00
R8331:Slc44a4	UTSW	17	34,921,569 (GRCm38)	missense	probably damaging	1.00
R8681:Slc44a4	UTSW	17	34,928,277 (GRCm38)	missense	possibly damaging	0.91
R8929:Slc44a4	UTSW	17	34,917,532 (GRCm38)	missense	probably damaging	1.00
R8973:Slc44a4	UTSW	17	34,921,562 (GRCm38)	missense	probably damaging	1.00
R9345:Slc44a4	UTSW	17	34,921,243 (GRCm38)	missense	probably benign	0.03
R9610:Slc44a4	UTSW	17	34,928,817 (GRCm38)	missense	probably benign	0.18
R9611:Slc44a4	UTSW	17	34,928,817 (GRCm38)	missense	probably benign	0.18
R9729:Slc44a4	UTSW	17	34,921,694 (GRCm38)	missense	probably benign	0.01
R9755:Slc44a4	UTSW	17	34,917,355 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCACTAAGTCTGCTGTTCATCCTC -3'
(R):5'- AGGCTGGAATTTAGCAGTGTTACCC -3'

Sequencing Primer
(F):5'- CTGGCAACAGTACCAAGTGTTTC -3'
(R):5'- AGCAGTGTTACCCATTGGC -3'

Posted On

2014-05-23