Mutagenetix > Incidental Mutation

Incidental Mutation 'R2679:Slc44a4'

250830

Institutional Source

Beutler Lab

Gene Symbol

Slc44a4

Ensembl Gene

ENSMUSG00000007034

Gene Name

solute carrier family 44, member 4

Synonyms

NG22, 2210409B01Rik

MMRRC Submission

040432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2679 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

35133442-35149412 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 35142399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132965 (fasta)

Gene Model

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

AlphaFold

Q91VA1

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: 81,042,780 (GRCm39)	V171A	probably benign	Het
Atf7ip	A	T	6: 136,543,649 (GRCm39)	I641L	possibly damaging	Het
Atrn	G	A	2: 130,803,595 (GRCm39)		probably null	Het
Bpifb4	T	C	2: 153,790,544 (GRCm39)	I145T	probably damaging	Het
Bub3	A	G	7: 131,170,454 (GRCm39)		probably null	Het
Catsperb	T	A	12: 101,429,404 (GRCm39)	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,944,613 (GRCm39)	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,901,079 (GRCm39)	Q998K	probably benign	Het
Cep135	A	T	5: 76,772,507 (GRCm39)	M631L	probably benign	Het
Cit	T	C	5: 116,107,174 (GRCm39)	V1102A	probably benign	Het
Col4a4	G	A	1: 82,507,332 (GRCm39)	T249M	unknown	Het
Cpne6	A	T	14: 55,753,786 (GRCm39)	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,485,894 (GRCm39)	I348V	probably benign	Het
Defb28	T	C	2: 152,360,202 (GRCm39)	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,743,344 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,083,910 (GRCm39)		probably null	Het
Egfem1	A	G	3: 29,724,825 (GRCm39)	T476A	probably benign	Het
Enpp5	A	G	17: 44,396,279 (GRCm39)	D397G	probably damaging	Het
Eogt	G	A	6: 97,097,761 (GRCm39)	T279I	probably benign	Het
Fnip2	G	A	3: 79,388,233 (GRCm39)	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435 (GRCm39)	T92S	probably damaging	Het
Gm10110	T	A	14: 90,134,852 (GRCm39)		noncoding transcript	Het
Gria2	A	G	3: 80,648,260 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,528,326 (GRCm39)	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspa1b	T	C	17: 35,176,279 (GRCm39)	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,916,372 (GRCm39)	Y46C	probably damaging	Het
Itga3	A	T	11: 94,959,136 (GRCm39)		probably benign	Het
Lrrc7	T	A	3: 157,880,745 (GRCm39)	R552*	probably null	Het
Med13	A	G	11: 86,189,403 (GRCm39)	S1169P	probably benign	Het
Muc4	T	A	16: 32,577,846 (GRCm39)	D2374E	unknown	Het
Myl9	T	A	2: 156,622,426 (GRCm39)	L70Q	probably damaging	Het
Nebl	C	T	2: 17,429,402 (GRCm39)	S243N	probably benign	Het
Nfat5	A	G	8: 108,071,546 (GRCm39)	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,827,380 (GRCm39)	D307V	probably damaging	Het
Nrp2	T	C	1: 62,824,237 (GRCm39)	S781P	probably benign	Het
Nub1	C	T	5: 24,897,923 (GRCm39)	T103I	possibly damaging	Het
Or4b1d	A	T	2: 89,968,889 (GRCm39)	V198D	possibly damaging	Het
Or51h5	T	A	7: 102,577,238 (GRCm39)	Y134*	probably null	Het
Pex5l	A	T	3: 33,136,201 (GRCm39)	M6K	probably benign	Het
Pgm3	A	C	9: 86,451,374 (GRCm39)	C93W	probably benign	Het
Pkhd1	A	G	1: 20,279,406 (GRCm39)	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,408,782 (GRCm39)	L2423P	probably damaging	Het
Prkce	A	G	17: 86,483,654 (GRCm39)		probably benign	Het
Ptbp3	A	G	4: 59,494,615 (GRCm39)		probably benign	Het
Ptgis	T	A	2: 167,050,113 (GRCm39)	M339L	probably benign	Het
Pxdn	T	C	12: 30,025,568 (GRCm39)		probably benign	Het
Rab44	T	A	17: 29,363,451 (GRCm39)		probably null	Het
Ric1	A	G	19: 29,581,430 (GRCm39)	S1275G	probably benign	Het
Rnf213	C	A	11: 119,350,764 (GRCm39)		probably null	Het
Rtn4rl1	A	T	11: 75,156,552 (GRCm39)	E328V	probably benign	Het
Saraf	C	T	8: 34,632,428 (GRCm39)	T169I	probably damaging	Het
Sbk2	T	A	7: 4,960,119 (GRCm39)		probably null	Het
Setd1a	T	G	7: 127,394,896 (GRCm39)		probably benign	Het
Sit1	A	G	4: 43,483,157 (GRCm39)	Y73H	probably damaging	Het
Spopfm1	A	T	3: 94,173,217 (GRCm39)	Y75F	probably damaging	Het
Tas2r125	A	G	6: 132,887,190 (GRCm39)	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,052,528 (GRCm39)		probably null	Het
Tcf7l1	G	T	6: 72,604,403 (GRCm39)	H580Q	probably benign	Het
Tead1	T	G	7: 112,456,053 (GRCm39)	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947 (GRCm38)	G29D	probably damaging	Het
Trpv4	A	T	5: 114,773,613 (GRCm39)	C250S	probably damaging	Het
U2surp	A	C	9: 95,358,285 (GRCm39)	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,138,360 (GRCm39)		probably benign	Het
Ubl7	A	G	9: 57,821,882 (GRCm39)	D77G	probably damaging	Het
Vmn1r91	T	C	7: 19,835,983 (GRCm39)	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,933,131 (GRCm39)	R230S	possibly damaging	Het
Wdfy3	T	A	5: 102,017,902 (GRCm39)	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,973,895 (GRCm39)	A341V	probably benign	Het
Zfp512	C	T	5: 31,622,798 (GRCm39)	A33V	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
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
R6860:Slc44a4	UTSW	17	35,140,044 (GRCm39)	missense	probably damaging	1.00
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'- GCCTATAGTGTATCCCTCCTGG -3'
(R):5'- TGCAGATTGTTCACTCCCAC -3'

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

Posted On

2014-12-04