Mutagenetix > Incidental Mutation

Incidental Mutation 'R2199:Slc44a3'

238548

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

MMRRC Submission

040201-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2199 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121513744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 198 (I198V)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039197]

AlphaFold

Q921V7

Predicted Effect

probably benign
Transcript: ENSMUST00000039197
AA Change: I198V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: I198V

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
transmembrane domain	217	239	N/A	INTRINSIC
transmembrane domain	244	266	N/A	INTRINSIC
Pfam:Choline_transpo	291	607	2.3e-80	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,335,624	I119V	probably benign	Het
Arfgap2	T	A	2: 91,265,692		probably null	Het
Ccm2	T	C	11: 6,590,790	V216A	probably damaging	Het
Ctdspl2	T	C	2: 121,987,029		probably null	Het
Dmxl2	T	C	9: 54,376,243	T2769A	probably benign	Het
Dnah3	C	T	7: 119,951,569	V3165M	possibly damaging	Het
Dnajc1	A	C	2: 18,308,899	F137C	probably damaging	Het
Gli2	A	T	1: 118,837,648	D924E	possibly damaging	Het
Gnrhr	T	C	5: 86,197,818	N3S	probably benign	Het
Grhl1	G	T	12: 24,612,170	R536L	probably damaging	Het
Hormad1	T	C	3: 95,567,722		probably null	Het
Il20	T	A	1: 130,910,739	I74L	probably benign	Het
Ints11	A	G	4: 155,875,281	K115R	probably benign	Het
Irx4	A	T	13: 73,265,601	E63D	probably benign	Het
Itch	A	C	2: 155,202,221	Q482P	probably benign	Het
Kctd8	C	A	5: 69,341,245	M19I	probably benign	Het
Klhl31	T	C	9: 77,650,101	L33P	probably damaging	Het
Lrp1	A	T	10: 127,546,840	C3691S	probably damaging	Het
Lrrc39	A	G	3: 116,570,961	D167G	probably damaging	Het
Lrrd1	A	T	5: 3,866,478	I832L	possibly damaging	Het
Lrriq1	A	G	10: 103,068,913	V1620A	probably damaging	Het
Ltbr	T	C	6: 125,312,061	K213E	probably benign	Het
Megf8	T	A	7: 25,339,614	D883E	possibly damaging	Het
Nmt1	T	A	11: 103,063,856	S405T	probably damaging	Het
Nsd3	G	T	8: 25,666,057	V547F	probably damaging	Het
Olfr1215	A	G	2: 89,001,550	V246A	probably damaging	Het
Olfr828	C	A	9: 18,815,923	V124F	probably damaging	Het
Otud7a	A	G	7: 63,757,656	K569R	possibly damaging	Het
Otud7b	A	G	3: 96,155,772	Y776C	probably damaging	Het
Pcdh15	T	C	10: 74,170,509	I73T	probably damaging	Het
Rnf213	A	T	11: 119,460,009	H3890L	probably benign	Het
Sall3	T	C	18: 80,971,870	T948A	probably benign	Het
Slc9a3r2	T	C	17: 24,640,596	E174G	probably null	Het
Smg7	C	A	1: 152,854,328	D405Y	probably damaging	Het
Synpo2l	A	G	14: 20,661,919	L211S	probably benign	Het
Thsd7b	A	G	1: 130,218,158	Y1601C	probably benign	Het
Traf4	T	C	11: 78,159,980	Y450C	probably damaging	Het
Trpv1	A	G	11: 73,240,251	K239E	probably damaging	Het
Ttn	C	T	2: 76,754,806	G20302S	probably damaging	Het
Ube2o	A	G	11: 116,544,745	S406P	probably benign	Het
Xrn2	C	T	2: 147,024,750	A80V	probably damaging	Het
Zfp616	C	T	11: 74,084,630	T575I	possibly damaging	Het

Other mutations in Slc44a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Slc44a3	APN	3	121527193	missense	probably damaging	1.00
IGL01527:Slc44a3	APN	3	121527128	missense	probably damaging	1.00
IGL02304:Slc44a3	APN	3	121527074	missense	possibly damaging	0.48
IGL02419:Slc44a3	APN	3	121490257	missense	probably benign	0.03
IGL02836:Slc44a3	APN	3	121531717	missense	probably damaging	1.00
IGL02937:Slc44a3	APN	3	121510321	splice site	probably benign
IGL03219:Slc44a3	APN	3	121463520	missense	probably damaging	1.00
BB009:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
BB019:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
R0597:Slc44a3	UTSW	3	121460070	missense	probably benign
R0668:Slc44a3	UTSW	3	121510203	missense	probably damaging	0.96
R1355:Slc44a3	UTSW	3	121531671	missense	probably damaging	1.00
R1608:Slc44a3	UTSW	3	121497847	nonsense	probably null
R1617:Slc44a3	UTSW	3	121461265	missense	probably benign	0.19
R1912:Slc44a3	UTSW	3	121532166	missense	probably benign	0.00
R2027:Slc44a3	UTSW	3	121463410	splice site	probably benign
R2087:Slc44a3	UTSW	3	121525670	missense	probably damaging	0.99
R4707:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R4736:Slc44a3	UTSW	3	121510206	missense	probably damaging	0.97
R4784:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R4785:Slc44a3	UTSW	3	121527074	missense	possibly damaging	0.48
R5302:Slc44a3	UTSW	3	121510313	missense	probably damaging	1.00
R5835:Slc44a3	UTSW	3	121527200	missense	probably benign	0.03
R6252:Slc44a3	UTSW	3	121513737	missense	probably damaging	0.99
R6991:Slc44a3	UTSW	3	121532165	missense	probably benign	0.01
R7197:Slc44a3	UTSW	3	121525762	missense	probably benign	0.02
R7227:Slc44a3	UTSW	3	121510230	missense	possibly damaging	0.93
R7272:Slc44a3	UTSW	3	121461115	missense	probably damaging	0.99
R7932:Slc44a3	UTSW	3	121512360	missense	possibly damaging	0.86
R8104:Slc44a3	UTSW	3	121497872	missense	probably benign	0.01
R8529:Slc44a3	UTSW	3	121525685	missense	probably benign	0.36
R8679:Slc44a3	UTSW	3	121490269	missense	probably damaging	1.00
R8856:Slc44a3	UTSW	3	121513807	missense	probably damaging	1.00
R9053:Slc44a3	UTSW	3	121527190	missense	probably damaging	1.00
R9121:Slc44a3	UTSW	3	121461137	missense	probably benign	0.00
R9360:Slc44a3	UTSW	3	121532259	start gained	probably benign
Z1176:Slc44a3	UTSW	3	121532251	start gained	probably benign
Z1177:Slc44a3	UTSW	3	121497750	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AAGGAAATCGACAGGCTCTG -3'
(R):5'- GCAAGAAAGCTGCTAAACCTTTC -3'

Sequencing Primer
(F):5'- TCGACAGGCTCTGTATTTAAGTC -3'
(R):5'- GAGCCAAGTAAGCGTCTTTACCTG -3'

Posted On

2014-10-02