Mutagenetix > Incidental Mutations

Incidental Mutation 'R1617:Slc44a3'

174337

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

MMRRC Submission

039654-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121461265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 568 (A568V)

Ref Sequence

ENSEMBL: ENSMUSP00000040210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029773] [ENSMUST00000039197] [ENSMUST00000197135] [ENSMUST00000198393]

AlphaFold

Q921V7

Predicted Effect

probably benign
Transcript: ENSMUST00000029773

SMART Domains

Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931

Domain	Start	End	E-Value	Type
CH	28	125	3.92e-27	SMART
Pfam:Calponin	164	188	1.1e-19	PFAM
Pfam:Calponin	204	228	7.4e-17	PFAM
Pfam:Calponin	243	267	1.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000039197
AA Change: A568V

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: A568V

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: ENSMUST00000196671

Predicted Effect

probably benign
Transcript: ENSMUST00000197135

SMART Domains

Protein: ENSMUSP00000142526
Gene: ENSMUSG00000053931

Domain	Start	End	E-Value	Type
CH	28	120	8.6e-10	SMART
Pfam:Calponin	158	183	1e-10	PFAM
Pfam:Calponin	197	222	9.6e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198335

Predicted Effect

probably benign
Transcript: ENSMUST00000198393

SMART Domains

Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931

Domain	Start	End	E-Value	Type
Blast:CH	1	28	7e-12	BLAST
SCOP:d1h67a_	1	35	9e-9	SMART
PDB:1WYN\|A	1	53	3e-21	PDB
Pfam:Calponin	67	92	1.2e-14	PFAM
Pfam:Calponin	107	132	3.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199188

Predicted Effect

probably benign
Transcript: ENSMUST00000199499

Meta Mutation Damage Score

0.1745

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,937	I91K	probably damaging	Het
Adamts16	T	A	13: 70,798,035	M254L	probably benign	Het
Adgre5	T	C	8: 83,730,177	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,576,352		probably null	Het
Amz2	A	G	11: 109,434,024	T245A	probably benign	Het
Aqp7	A	C	4: 41,036,109	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,951	Y345N	possibly damaging	Het
Blnk	T	C	19: 40,962,363	T115A	probably benign	Het
Col5a1	T	C	2: 27,952,381	S423P	unknown	Het
Corin	A	T	5: 72,503,952	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,846,669	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,602,370	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,620,845	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,815,077	V219L	possibly damaging	Het
Dnah3	T	C	7: 120,089,946	M82V	probably benign	Het
Dnah9	A	G	11: 65,895,921	S3629P	probably damaging	Het
Fam160a2	A	G	7: 105,385,062	L454P	probably damaging	Het
Fbrs	T	C	7: 127,487,711	L33P	probably damaging	Het
Galnt11	T	A	5: 25,258,893	S388T	probably damaging	Het
Glmp	A	G	3: 88,328,119		probably benign	Het
Gm13178	T	G	4: 144,715,391	T97P	probably damaging	Het
Gm13212	A	T	4: 145,624,307		probably benign	Het
Gm9268	A	G	7: 43,024,079	E187G	probably benign	Het
Gm9894	A	G	13: 67,772,726		noncoding transcript	Het
Grik3	A	G	4: 125,691,192	M618V	probably benign	Het
Hmcn1	T	C	1: 150,745,027	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,466,398	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,375,927	I523V	probably benign	Het
Lmln	C	T	16: 33,117,130	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,173,862	T467A	probably damaging	Het
Map1s	T	A	8: 70,913,451	N333K	probably damaging	Het
Mgat4d	C	A	8: 83,365,711	A242D	probably damaging	Het
Muc5b	T	A	7: 141,863,524	Y3402*	probably null	Het
Myo3b	G	T	2: 70,281,218	A922S	probably benign	Het
Nphs1	T	C	7: 30,482,531	V1183A	probably benign	Het
Nup160	T	A	2: 90,679,499	C31S	probably benign	Het
Olfr1061	A	T	2: 86,413,691	Y120*	probably null	Het
Olfr48	T	C	2: 89,844,254	T240A	probably benign	Het
Pcdhb5	T	G	18: 37,321,402	Y278*	probably null	Het
Pkhd1	T	A	1: 20,198,050	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,289,141	M676T	probably benign	Het
Plcb1	A	T	2: 135,337,441	N590Y	probably damaging	Het
Prr12	G	A	7: 45,049,594		probably benign	Het
Psat1	A	G	19: 15,924,302		probably null	Het
Ptpn9	T	G	9: 57,027,408	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,947,611	F111Y	probably damaging	Het
Smarcd3	T	G	5: 24,595,194	R213S	probably damaging	Het
Snx13	T	C	12: 35,086,896	Y119H	probably damaging	Het
Socs2	C	A	10: 95,413,081	E57*	probably null	Het
Spred1	C	T	2: 117,175,347	P197S	probably benign	Het
Srek1	G	T	13: 103,743,604	P482Q	unknown	Het
Tapbp	A	G	17: 33,920,431	T134A	probably benign	Het
Tarbp1	T	C	8: 126,444,268	I998V	possibly damaging	Het
Tbcel	G	T	9: 42,461,293		probably benign	Het
Tec	A	G	5: 72,782,105	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,499,563	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,355,404		probably benign	Het
Trpa1	A	G	1: 14,873,675	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,935,875		probably null	Het
Ttc21b	G	T	2: 66,226,035	T669K	probably benign	Het
Ttll4	G	A	1: 74,679,401	R137H	probably benign	Het
Ubqln3	G	T	7: 104,142,860	L8I	possibly damaging	Het
Ung	C	A	5: 114,131,354	N42K	probably benign	Het
Upp1	T	C	11: 9,134,865	S195P	probably damaging	Het
Urb1	T	C	16: 90,760,452	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,686,111	K35E	probably damaging	Het
Vav3	A	T	3: 109,510,978	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,328,328	I140V	possibly damaging	Het
Zfc3h1	A	G	10: 115,390,922	T295A	probably benign	Het
Zfp46	T	C	4: 136,290,512	L219P	probably damaging	Het
Zfp493	G	A	13: 67,783,880	V33M	probably damaging	Het
Zfp92	T	C	X: 73,419,860		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
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
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'- GTCTTCAACACTTGTCAGGGGAGAG -3'
(R):5'- ATTACGTATACCGCACGCACGC -3'

Sequencing Primer
(F):5'- CACTTGTCAGGGGAGAGATTAC -3'
(R):5'- GAGCCCACCAACCCTATTTA -3'

Posted On

2014-04-24