Mutagenetix > Incidental Mutations

Incidental Mutation 'R5302:Slc44a3'

404288

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

MMRRC Submission

042885-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5302 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121510313 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039197
AA Change: V258A

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

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: V258A

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,283,952	V1657A	possibly damaging	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Acot5	A	G	12: 84,073,441	Y190C	probably damaging	Het
Ascc3	T	A	10: 50,707,777	Y941N	probably benign	Het
BC035947	A	T	1: 78,511,962	M1K	probably null	Het
C2cd5	A	G	6: 143,073,756	C278R	probably benign	Het
Cd200r1	G	T	16: 44,792,809	L259F	possibly damaging	Het
Clcn4	A	G	7: 7,294,051	V136A	possibly damaging	Het
Cntnap5a	T	C	1: 116,157,570	S413P	probably benign	Het
Corin	T	A	5: 72,316,098	E748D	probably benign	Het
Crtc2	G	T	3: 90,261,018	G356V	probably damaging	Het
D1Pas1	T	A	1: 186,969,445	Y524N	probably damaging	Het
Dlgap4	T	C	2: 156,760,898	S147P	probably damaging	Het
Enpp1	A	T	10: 24,651,390	I633N	probably benign	Het
Gm3095	A	G	14: 3,964,498	D72G	probably null	Het
Gm5449	C	T	13: 53,525,751		noncoding transcript	Het
Gm6803	T	A	12: 88,018,546	I76F	probably damaging	Het
Gpx7	T	C	4: 108,400,914	T161A	probably benign	Het
Grip1	T	C	10: 120,020,077	L236P	probably damaging	Het
H2-Q2	G	T	17: 35,344,909	R255S	probably damaging	Het
Il17rc	G	T	6: 113,483,036	A648S	possibly damaging	Het
Klhl12	A	G	1: 134,489,451	E540G	possibly damaging	Het
Mcm10	T	C	2: 5,007,370	I135V	probably benign	Het
Mrps26	C	A	2: 130,564,167	T100K	probably benign	Het
Nid2	A	G	14: 19,779,701	T687A	probably benign	Het
Npas3	A	T	12: 54,068,836	D829V	probably damaging	Het
Ocln	T	C	13: 100,506,299	D176G	probably damaging	Het
Olfr745	A	G	14: 50,642,319		probably null	Het
Pax3	A	C	1: 78,121,612	M380R	possibly damaging	Het
Pcdha3	A	G	18: 36,948,155	E650G	probably damaging	Het
Pdcd11	C	A	19: 47,107,644	H668N	probably damaging	Het
Polr3b	T	C	10: 84,699,400	Y858H	possibly damaging	Het
Pus10	T	C	11: 23,667,416		probably null	Het
Raver1	T	C	9: 21,075,381	D739G	probably damaging	Het
Slc26a11	T	C	11: 119,363,450	L198P	probably damaging	Het
Socs7	T	A	11: 97,389,199	I524N	probably damaging	Het
Steap4	T	A	5: 7,975,547	L36*	probably null	Het
Svep1	G	C	4: 58,096,183	T1479S	possibly damaging	Het
Ttc37	G	A	13: 76,147,767	E1050K	possibly damaging	Het
Ttn	C	A	2: 76,717,275	V32184F	probably damaging	Het
Vmn1r22	T	C	6: 57,900,975	N6D	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
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
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
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'- CCTCAGCTCTCTCGGGAAATAG -3'
(R):5'- CTTGGCACAGATCACCTAGAG -3'

Sequencing Primer
(F):5'- GAAATAGTCCTCCCTAGGGTTGC -3'
(R):5'- CCAAGCTTTTGAGGCTATAGGATCC -3'

Posted On

2016-07-22