Mutagenetix > Incidental Mutations

Incidental Mutation 'R5835:Slc44a3'

449526

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

MMRRC Submission

044056-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121527200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 51 (I51L)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

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

AlphaFold

Q921V7

Predicted Effect

probably benign
Transcript: ENSMUST00000039197
AA Change: I51L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: I51L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199889

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
A2m	A	G	6: 121,639,336	K141R	probably damaging	Het
Ablim3	T	C	18: 61,823,922	E278G	probably damaging	Het
Adam28	A	G	14: 68,655,681	W4R	possibly damaging	Het
Ahnak2	T	C	12: 112,775,796	N614S	possibly damaging	Het
Arfgef1	A	G	1: 10,160,739	S1182P	probably damaging	Het
Asb8	A	T	15: 98,136,382	D97E	probably damaging	Het
AU041133	T	A	10: 82,151,212	L232H	probably damaging	Het
Bmp2k	T	G	5: 97,056,982	V392G	possibly damaging	Het
Capn12	C	A	7: 28,881,958	H79N	probably benign	Het
Casp2	C	A	6: 42,267,586	S54R	possibly damaging	Het
Ccdc18	T	C	5: 108,140,874	S163P	possibly damaging	Het
Ccdc92b	A	G	11: 74,638,012	E114G	probably benign	Het
Cd209c	C	A	8: 3,945,699	M34I	probably benign	Het
Ceacam18	A	T	7: 43,636,958	H85L	probably benign	Het
Cndp1	C	A	18: 84,612,833	A434S	probably benign	Het
Crybg1	T	A	10: 43,975,133	T1581S	probably benign	Het
Cyb5d2	A	T	11: 72,789,210	D86E	probably damaging	Het
Duox1	T	G	2: 122,327,860	V608G	probably benign	Het
Exosc10	A	G	4: 148,565,387	R425G	probably damaging	Het
Fat3	A	T	9: 16,375,833	I798N	probably damaging	Het
Habp2	T	A	19: 56,306,786	D36E	probably benign	Het
Herpud1	T	C	8: 94,392,239	V207A	probably damaging	Het
Htt	A	G	5: 34,813,190	I561V	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Igkv18-36	A	G	6: 69,992,528	I93T	probably damaging	Het
Kalrn	T	G	16: 33,987,091	E2636A	probably benign	Het
Kif27	A	G	13: 58,313,146		probably null	Het
Mep1a	G	A	17: 43,478,164	H574Y	probably benign	Het
Myh6	T	C	14: 54,950,407	K1197E	probably damaging	Het
Obscn	T	C	11: 59,002,081	T6780A	probably benign	Het
Obscn	C	T	11: 59,042,127	V4808M	probably damaging	Het
Olfr800	A	G	10: 129,659,934	I43V	probably benign	Het
Pkhd1	T	C	1: 20,201,083	D3082G	probably benign	Het
Plch1	T	C	3: 63,697,522	M1645V	probably benign	Het
Ppip5k1	A	G	2: 121,337,899	V674A	probably benign	Het
Prrc2b	T	A	2: 32,206,473	S619T	probably benign	Het
Rab44	A	T	17: 29,148,238	H714L	probably benign	Het
Rybp	A	G	6: 100,233,190	Y70H	possibly damaging	Het
Sfrp1	A	G	8: 23,446,244	K234R	possibly damaging	Het
Slc1a2	A	G	2: 102,777,450	N481S	probably damaging	Het
Slitrk1	A	G	14: 108,911,572	F569S	possibly damaging	Het
Smurf2	A	T	11: 106,836,148	N451K	probably damaging	Het
Sptbn2	T	A	19: 4,738,219	D1075E	probably damaging	Het
Syngap1	A	T	17: 26,958,218	H65L	probably benign	Het
Tdrd12	T	C	7: 35,529,264	D11G	probably damaging	Het
Tex2	C	T	11: 106,519,913	A926T	unknown	Het
Tm7sf2	A	G	19: 6,063,884	F209S	probably damaging	Het
Trbv12-2	G	A	6: 41,118,840		probably benign	Het
Virma	T	A	4: 11,514,036	L630H	probably damaging	Het
Vmn1r68	A	G	7: 10,527,820	I117T	possibly damaging	Het
Zan	C	A	5: 137,456,655	R1373L	unknown	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
R2199:Slc44a3	UTSW	3	121513744	missense	probably benign	0.02
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
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'- TCTAAGTCGGAGCCCTAACC -3'
(R):5'- AAGGTGACAGCCTCTTGAAG -3'

Sequencing Primer
(F):5'- GGAGTTCTTCTTGCCACA -3'
(R):5'- TGACAGCCTCTTGAAGAAGAC -3'

Posted On

2016-12-20