Mutagenetix > Incidental Mutation

Incidental Mutation 'R6860:Slc44a4'

535478

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

NG22, 2210409B01Rik

MMRRC Submission

045025-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35133442-35149412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35140044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 23 (L23Q)

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: L175Q

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

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034
AA Change: L175Q

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: L23Q

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

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034
AA Change: L23Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (86/86)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,080,412 (GRCm39)	E418G	probably damaging	Het
9930012K11Rik	C	A	14: 70,395,071 (GRCm39)	V28L	possibly damaging	Het
Abtb2	C	T	2: 103,539,770 (GRCm39)	R712*	probably null	Het
Acvr1c	C	T	2: 58,177,717 (GRCm39)	G171S	probably damaging	Het
Ahctf1	G	T	1: 179,580,853 (GRCm39)	A1783E	probably benign	Het
Anapc4	A	T	5: 53,006,170 (GRCm39)	Q149L	probably damaging	Het
Ankrd27	T	C	7: 35,327,952 (GRCm39)	V824A	possibly damaging	Het
Ankrd31	G	C	13: 96,968,094 (GRCm39)	C577S	probably benign	Het
Apol7c	T	C	15: 77,410,274 (GRCm39)	N224S	probably benign	Het
Arl14	A	T	3: 69,130,029 (GRCm39)	T59S	probably benign	Het
Astn1	T	A	1: 158,440,042 (GRCm39)	I870K	probably damaging	Het
B4galt1	A	T	4: 40,807,796 (GRCm39)	V335E	probably benign	Het
C2cd3	C	T	7: 100,039,448 (GRCm39)	P216S	probably benign	Het
Cchcr1	C	A	17: 35,840,015 (GRCm39)	N711K	possibly damaging	Het
Chd2	A	G	7: 73,147,558 (GRCm39)	F467L	possibly damaging	Het
Cntn6	A	T	6: 104,838,907 (GRCm39)	E987V	possibly damaging	Het
Col11a2	T	A	17: 34,272,572 (GRCm39)	L286H	probably damaging	Het
Cwc22	C	T	2: 77,759,792 (GRCm39)	R85Q	possibly damaging	Het
Cyp7a1	A	C	4: 6,272,587 (GRCm39)	F209V	probably damaging	Het
Dmtn	T	C	14: 70,852,322 (GRCm39)	T189A	possibly damaging	Het
Dnhd1	C	G	7: 105,327,473 (GRCm39)	N777K	probably benign	Het
Dusp16	A	T	6: 134,702,842 (GRCm39)	C216*	probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	T	C	2: 125,170,078 (GRCm39)	N1993S	probably damaging	Het
Fbxw22	A	G	9: 109,213,030 (GRCm39)	S306P	probably benign	Het
Ferd3l	T	C	12: 33,978,651 (GRCm39)	S55P	probably benign	Het
Fpr-rs3	A	G	17: 20,844,560 (GRCm39)	S194P	possibly damaging	Het
Gm19965	G	A	1: 116,748,609 (GRCm39)	D97N	probably benign	Het
Gtpbp2	A	G	17: 46,478,914 (GRCm39)		probably benign	Het
H3c7	G	T	13: 23,728,760 (GRCm39)	V36L	probably benign	Het
Hcn3	A	C	3: 89,067,152 (GRCm39)	I72S	possibly damaging	Het
Hk3	T	A	13: 55,162,278 (GRCm39)	N109Y	probably damaging	Het
Iqub	T	C	6: 24,505,737 (GRCm39)	E57G	possibly damaging	Het
Kcnk3	T	A	5: 30,779,397 (GRCm39)	M149K	possibly damaging	Het
Kcp	C	T	6: 29,505,719 (GRCm39)	G51D	probably benign	Het
Kif26a	C	A	12: 112,113,263 (GRCm39)	A53D	probably damaging	Het
Lifr	T	A	15: 7,202,418 (GRCm39)	I353K	probably benign	Het
Llph	A	T	10: 120,067,189 (GRCm39)	N102I	probably damaging	Het
Lmo3	C	A	6: 138,393,566 (GRCm39)	R18L	possibly damaging	Het
Lrrc46	T	C	11: 96,926,371 (GRCm39)	E175G	probably benign	Het
Ltk	A	T	2: 119,585,075 (GRCm39)	C128*	probably null	Het
Map1b	T	C	13: 99,571,275 (GRCm39)	E482G	probably damaging	Het
Mapk8ip2	T	C	15: 89,344,655 (GRCm39)	V740A	probably damaging	Het
Miga2	T	C	2: 30,261,175 (GRCm39)	W157R	probably benign	Het
Mlip	A	G	9: 77,009,675 (GRCm39)	*837Q	probably null	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myl1	T	C	1: 66,984,217 (GRCm39)		probably benign	Het
Or1l4	T	C	2: 37,092,189 (GRCm39)	L312P	possibly damaging	Het
Or2a5	T	C	6: 42,873,750 (GRCm39)	Y122H	probably benign	Het
Or51ab3	A	G	7: 103,201,075 (GRCm39)	I28V	probably benign	Het
P3h3	A	T	6: 124,834,331 (GRCm39)	V107D	probably benign	Het
Papolb	A	T	5: 142,514,651 (GRCm39)	S331T	possibly damaging	Het
Pars2	T	G	4: 106,511,700 (GRCm39)	V494G	probably benign	Het
Pcdhb3	C	A	18: 37,434,763 (GRCm39)	T243K	probably benign	Het
Pde9a	T	A	17: 31,689,698 (GRCm39)	M415K	probably damaging	Het
Ppp1r9b	G	A	11: 94,882,974 (GRCm39)	A201T	probably benign	Het
Prl	A	G	13: 27,248,942 (GRCm39)	N197S	possibly damaging	Het
Prl2c1	T	A	13: 28,035,724 (GRCm39)	M32K	probably benign	Het
Prrt4	T	C	6: 29,170,737 (GRCm39)	S572G	possibly damaging	Het
Psd	T	A	19: 46,310,858 (GRCm39)	D397V	probably damaging	Het
Psme2b	A	T	11: 48,836,307 (GRCm39)	Y213*	probably null	Het
Ptcd3	T	A	6: 71,874,094 (GRCm39)		probably null	Het
Ptprk	T	G	10: 28,210,480 (GRCm39)	F167L	probably damaging	Het
Rfx7	T	C	9: 72,524,226 (GRCm39)	V472A	probably damaging	Het
Sanbr	A	G	11: 23,575,100 (GRCm39)	L58P	probably damaging	Het
Scnn1g	T	C	7: 121,339,576 (GRCm39)	L125S	probably damaging	Het
Sec16a	T	C	2: 26,320,124 (GRCm39)	Y1438C	probably damaging	Het
Serinc3	C	T	2: 163,476,366 (GRCm39)	S155N	probably benign	Het
Slc3a2	A	T	19: 8,690,996 (GRCm39)	V78E	probably damaging	Het
Slco5a1	C	T	1: 12,951,420 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,605,154 (GRCm39)	M899T	probably benign	Het
Sorl1	A	G	9: 41,933,688 (GRCm39)	I1094T	probably benign	Het
Spag9	T	A	11: 93,972,196 (GRCm39)	L258Q	probably benign	Het
Strip1	T	C	3: 107,526,252 (GRCm39)	E488G	possibly damaging	Het
Stx18	G	A	5: 38,262,235 (GRCm39)	D30N	possibly damaging	Het
Sync	T	C	4: 129,181,583 (GRCm39)		probably null	Het
Syncrip	A	G	9: 88,358,849 (GRCm39)	V220A	probably damaging	Het
Tagln2	T	C	1: 172,333,476 (GRCm39)	I110T	probably benign	Het
Taok1	T	C	11: 77,432,627 (GRCm39)	T729A	probably benign	Het
Tgfbrap1	C	T	1: 43,106,759 (GRCm39)	V75I	possibly damaging	Het
Tnfrsf21	A	G	17: 43,327,957 (GRCm39)	T24A	probably benign	Het
Tnxb	T	A	17: 34,932,131 (GRCm39)	D2221E	probably damaging	Het
Triml1	A	G	8: 43,583,603 (GRCm39)	S333P	probably damaging	Het
Trp53bp1	C	A	2: 121,029,594 (GRCm39)	R1862L	probably damaging	Het
Tsc22d1	T	G	14: 76,655,732 (GRCm39)	I737S	possibly damaging	Het
U2af2	A	T	7: 5,082,273 (GRCm39)	K462N	possibly damaging	Het
Ubap2	A	C	4: 41,233,631 (GRCm39)	N86K	probably damaging	Het
Uso1	A	G	5: 92,343,207 (GRCm39)	K764E	probably benign	Het
Vmn1r192	T	A	13: 22,372,122 (GRCm39)	M33L	probably benign	Het

Other mutations in Slc44a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Slc44a4	APN	17	35,149,216 (GRCm39)	utr 3 prime	probably benign
IGL01097:Slc44a4	APN	17	35,140,545 (GRCm39)	missense	probably damaging	0.97
IGL01296:Slc44a4	APN	17	35,140,674 (GRCm39)	missense	probably benign	0.39
IGL01606:Slc44a4	APN	17	35,147,994 (GRCm39)	missense	probably damaging	1.00
IGL01759:Slc44a4	APN	17	35,140,219 (GRCm39)	missense	probably benign	0.00
IGL02026:Slc44a4	APN	17	35,140,832 (GRCm39)	splice site	probably benign
IGL02119:Slc44a4	APN	17	35,147,637 (GRCm39)	missense	probably damaging	1.00
IGL02338:Slc44a4	APN	17	35,142,786 (GRCm39)	missense	possibly damaging	0.90
IGL02383:Slc44a4	APN	17	35,146,686 (GRCm39)	missense	probably benign	0.00
IGL02526:Slc44a4	APN	17	35,147,463 (GRCm39)	missense	probably damaging	0.99
IGL02744:Slc44a4	APN	17	35,146,776 (GRCm39)	missense	probably damaging	1.00
IGL02754:Slc44a4	APN	17	35,140,279 (GRCm39)	missense	probably damaging	0.98
ANU74:Slc44a4	UTSW	17	35,140,554 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Slc44a4	UTSW	17	35,140,251 (GRCm39)	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	35,140,230 (GRCm39)	missense	probably damaging	0.99
R0007:Slc44a4	UTSW	17	35,140,230 (GRCm39)	missense	probably damaging	0.99
R0452:Slc44a4	UTSW	17	35,147,071 (GRCm39)	missense	possibly damaging	0.82
R0894:Slc44a4	UTSW	17	35,147,466 (GRCm39)	missense	possibly damaging	0.92
R1136:Slc44a4	UTSW	17	35,146,998 (GRCm39)	missense	probably damaging	1.00
R1224:Slc44a4	UTSW	17	35,140,844 (GRCm39)	missense	probably benign	0.18
R1779:Slc44a4	UTSW	17	35,140,901 (GRCm39)	missense	probably damaging	1.00
R2679:Slc44a4	UTSW	17	35,142,399 (GRCm39)	splice site	probably benign
R3499:Slc44a4	UTSW	17	35,140,656 (GRCm39)	missense	probably benign	0.02
R3732:Slc44a4	UTSW	17	35,140,537 (GRCm39)	synonymous	silent
R4084:Slc44a4	UTSW	17	35,136,323 (GRCm39)	missense	probably damaging	1.00
R4197:Slc44a4	UTSW	17	35,137,228 (GRCm39)	missense	probably benign	0.12
R4536:Slc44a4	UTSW	17	35,142,815 (GRCm39)	missense	probably damaging	1.00
R4547:Slc44a4	UTSW	17	35,146,731 (GRCm39)	missense	probably damaging	1.00
R5093:Slc44a4	UTSW	17	35,140,219 (GRCm39)	missense	probably benign	0.00
R6005:Slc44a4	UTSW	17	35,142,430 (GRCm39)	missense	possibly damaging	0.69
R6396:Slc44a4	UTSW	17	35,147,860 (GRCm39)	nonsense	probably null
R6660:Slc44a4	UTSW	17	35,149,201 (GRCm39)	missense	probably damaging	0.99
R6863:Slc44a4	UTSW	17	35,142,798 (GRCm39)	missense	probably benign	0.41
R6947:Slc44a4	UTSW	17	35,147,044 (GRCm39)	missense	probably null	1.00
R7250:Slc44a4	UTSW	17	35,137,520 (GRCm39)	critical splice donor site	probably null
R7297:Slc44a4	UTSW	17	35,146,888 (GRCm39)	missense	probably damaging	0.98
R7425:Slc44a4	UTSW	17	35,140,667 (GRCm39)	missense	possibly damaging	0.94
R7696:Slc44a4	UTSW	17	35,147,676 (GRCm39)	missense	probably damaging	1.00
R7871:Slc44a4	UTSW	17	35,142,828 (GRCm39)	critical splice donor site	probably null
R8244:Slc44a4	UTSW	17	35,140,548 (GRCm39)	missense	probably damaging	1.00
R8331:Slc44a4	UTSW	17	35,140,545 (GRCm39)	missense	probably damaging	1.00
R8681:Slc44a4	UTSW	17	35,147,253 (GRCm39)	missense	possibly damaging	0.91
R8929:Slc44a4	UTSW	17	35,136,508 (GRCm39)	missense	probably damaging	1.00
R8973:Slc44a4	UTSW	17	35,140,538 (GRCm39)	missense	probably damaging	1.00
R9345:Slc44a4	UTSW	17	35,140,219 (GRCm39)	missense	probably benign	0.03
R9610:Slc44a4	UTSW	17	35,147,793 (GRCm39)	missense	probably benign	0.18
R9611:Slc44a4	UTSW	17	35,147,793 (GRCm39)	missense	probably benign	0.18
R9729:Slc44a4	UTSW	17	35,140,670 (GRCm39)	missense	probably benign	0.01
R9755:Slc44a4	UTSW	17	35,136,331 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATAGCTGTCCTGATCTTAGCG -3'
(R):5'- CATTGATGCTGTCCAGGAGG -3'

Sequencing Primer
(F):5'- CTGGAGGTATTGCAGGAATCC -3'
(R):5'- TGTCCAGGAGGCCACTGTC -3'

Posted On

2018-09-12