Mutagenetix > Incidental Mutations

Incidental Mutation 'R0668:Slc44a3'

62089

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

MMRRC Submission

038853-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0668 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121510203 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 295 (T295A)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

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

AlphaFold

Q921V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039197
AA Change: T295A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: T295A

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: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,263,614	Q2149K	probably damaging	Het
Aifm1	T	C	X: 48,494,791	Q210R	probably benign	Het
Arhgef1	A	G	7: 24,907,920	N31D	possibly damaging	Het
Asic5	T	A	3: 82,021,001	Y424N	probably damaging	Het
Cfb	G	T	17: 34,857,103	Q1176K	probably benign	Het
Chdh	A	G	14: 30,035,880	H447R	probably damaging	Het
Cpd	A	C	11: 76,784,398	V1299G	probably damaging	Het
Dnase1l3	A	G	14: 7,968,086		probably null	Het
Dnhd1	A	G	7: 105,695,751	T2101A	probably benign	Het
Fchsd2	A	G	7: 101,196,920	K188E	possibly damaging	Het
Gm10549	A	G	18: 33,470,850	T129A	unknown	Het
Gm11639	A	T	11: 104,720,492	I387F	probably benign	Het
Gm15448	G	A	7: 3,822,700	T390I	probably damaging	Het
Jph1	T	A	1: 17,091,671	T256S	probably damaging	Het
Kcnma1	A	G	14: 23,367,495	Y768H	probably damaging	Het
Lcmt1	G	A	7: 123,402,871	D120N	probably damaging	Het
Ly6g6d	G	A	17: 35,071,739	H72Y	probably damaging	Het
Myom3	A	G	4: 135,764,926	D127G	possibly damaging	Het
Olfr95	T	A	17: 37,211,644	I70F	probably damaging	Het
Sart1	T	C	19: 5,384,256	Y249C	probably damaging	Het
Scin	A	G	12: 40,080,949	Y322H	probably damaging	Het
Slc4a5	T	A	6: 83,271,072	L535Q	probably damaging	Het
Them5	A	T	3: 94,344,413	K110N	probably benign	Het
Uhrf1bp1	A	T	17: 27,895,939	I1408F	probably benign	Het
Vmn1r32	T	A	6: 66,553,660	Q44L	possibly damaging	Het
Vmn2r93	T	A	17: 18,298,405	M42K	probably benign	Het
Zfp143	A	T	7: 110,061,274		probably benign	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
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
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'- GCCCTTCACCCACGAATTGCTTAG -3'
(R):5'- AACCTGGCTTGGCACAGATCAC -3'

Sequencing Primer
(F):5'- ACGAATTGCTTAGCCTTCTCTG -3'
(R):5'- ACAGTGGTTGTATTtgtgtgtg -3'

Posted On

2013-07-30