Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02937:Slc44a3'

364393

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02937

Quality Score

Status

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 121510321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

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

AlphaFold

Q921V7

Predicted Effect

probably benign
Transcript: ENSMUST00000039197

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,294,753	C21Y	probably damaging	Het
4933427D06Rik	T	C	6: 89,108,145		noncoding transcript	Het
5730480H06Rik	A	G	5: 48,379,441	I160V	probably benign	Het
Arhgap29	G	A	3: 121,974,049	E47K	probably damaging	Het
Arhgef12	T	A	9: 43,015,920	S303C	probably damaging	Het
Bap1	A	G	14: 31,258,327	N644S	probably benign	Het
Cc2d1b	A	G	4: 108,631,894	E796G	probably damaging	Het
Cfh	C	A	1: 140,105,442	R788L	probably benign	Het
Cldn1	A	G	16: 26,360,873	F148S	probably damaging	Het
Cryzl1	A	G	16: 91,690,731	M292T	possibly damaging	Het
Cyp11b1	T	C	15: 74,836,559	R385G	possibly damaging	Het
Cyp4f37	T	C	17: 32,625,189	L89P	probably benign	Het
Dach1	A	G	14: 97,915,795		probably null	Het
Ddx58	C	T	4: 40,229,661	C86Y	probably benign	Het
Dhtkd1	A	G	2: 5,917,905	I481T	possibly damaging	Het
Dlx5	A	T	6: 6,881,755	D44E	probably damaging	Het
Dsg1a	T	A	18: 20,331,534	I362N	possibly damaging	Het
Ecm2	T	A	13: 49,518,476	I151N	probably damaging	Het
Far1	T	A	7: 113,540,648	I101N	probably damaging	Het
Gm21985	T	C	2: 112,341,862	S384P	probably benign	Het
Gnb5	T	C	9: 75,340,189	Y247H	probably damaging	Het
Golgb1	A	G	16: 36,916,210	K1940E	probably damaging	Het
Gprc5b	A	G	7: 118,983,794	V284A	probably benign	Het
Idh2	T	C	7: 80,098,913	Y179C	probably damaging	Het
Kalrn	G	A	16: 34,220,130	Q737*	probably null	Het
Kcnj13	T	C	1: 87,386,453	D349G	probably damaging	Het
Lgsn	A	T	1: 31,204,237	T467S	possibly damaging	Het
Map9	T	A	3: 82,363,512	S128T	possibly damaging	Het
Mroh5	A	G	15: 73,789,978	C455R	probably damaging	Het
Nes	A	G	3: 87,979,879	H1771R	probably benign	Het
Nkain2	T	C	10: 32,329,844	Y65C	probably damaging	Het
Olfr303	T	C	7: 86,394,590	K303E	possibly damaging	Het
Olfr623	A	T	7: 103,660,905	V115D	probably damaging	Het
Olfr644	T	A	7: 104,068,849	M61L	probably damaging	Het
Pabpc4l	A	C	3: 46,446,290	D306E	probably benign	Het
Parp12	A	T	6: 39,102,581	Y332N	probably damaging	Het
Parvb	A	T	15: 84,308,953	K316M	probably damaging	Het
Pde8a	T	A	7: 81,295,771		probably benign	Het
Polq	A	G	16: 37,013,109	T55A	probably benign	Het
Ppp2r5b	T	A	19: 6,230,986	K271M	probably damaging	Het
Ralgapb	A	G	2: 158,493,016		probably null	Het
Skap2	T	C	6: 51,909,371	N175D	probably benign	Het
Smurf2	G	A	11: 106,846,047	H318Y	probably damaging	Het
Tbc1d23	T	C	16: 57,184,415	T460A	possibly damaging	Het
Tcerg1	T	C	18: 42,524,349	S299P	unknown	Het
Tll1	A	C	8: 64,205,285	Y33*	probably null	Het
Tmem59	A	T	4: 107,197,585	T196S	probably damaging	Het
Ttll4	C	A	1: 74,679,503	A171D	possibly damaging	Het
Ttn	T	C	2: 76,811,169	T13528A	possibly damaging	Het
Ttn	A	G	2: 76,887,277		probably benign	Het
Xpc	C	A	6: 91,500,137	G327W	probably damaging	Het
Zbtb7a	A	G	10: 81,144,298	S109G	probably benign	Het
Zfyve26	T	C	12: 79,239,020	M2328V	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
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
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

Posted On

2015-12-18