Mutagenetix > Incidental Mutations

Incidental Mutation 'R0597:Slc44a3'

55102

Institutional Source

Beutler Lab

Gene Symbol

Slc44a3

Ensembl Gene

ENSMUSG00000039865

Gene Name

solute carrier family 44, member 3

Synonyms

MMRRC Submission

038786-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121459528-121532404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121460070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 625 (I625V)

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: I625V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865
AA Change: I625V

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

0.0898

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.4%
20x: 94.1%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,525,062		probably null	Het
Anxa11	T	C	14: 25,874,228	I221T	probably damaging	Het
Arhgap33	C	G	7: 30,526,446	R565P	probably damaging	Het
Bmpr2	T	C	1: 59,841,425		probably benign	Het
Btn2a2	T	A	13: 23,486,410	H51L	probably benign	Het
Casz1	T	C	4: 148,944,394	S1099P	probably benign	Het
Cnot4	A	G	6: 35,051,503	S393P	possibly damaging	Het
Cntnap5a	T	C	1: 116,184,461		probably benign	Het
Cobl	T	C	11: 12,254,699	T586A	probably benign	Het
Crocc	A	G	4: 141,017,071	L1838P	probably benign	Het
Crocc	T	C	4: 141,019,913	K1528R	probably benign	Het
Dact2	A	G	17: 14,197,041	V299A	probably benign	Het
Dapk1	C	A	13: 60,761,384	N1270K	probably benign	Het
Ddx41	T	C	13: 55,533,006	Y375C	probably damaging	Het
Dock5	T	A	14: 67,784,934		probably null	Het
Dyrk4	T	G	6: 126,886,649		probably null	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam210b	A	G	2: 172,345,853		probably benign	Het
Fbxl13	A	G	5: 21,614,714	I229T	probably benign	Het
Fbxo39	A	G	11: 72,316,921	D33G	probably damaging	Het
Fbxw11	A	G	11: 32,720,496	E120G	probably damaging	Het
Fbxw2	A	T	2: 34,811,020	L261Q	probably damaging	Het
Gm13084	G	T	4: 143,812,652	N90K	probably damaging	Het
Gm5800	A	C	14: 51,716,004	N51K	probably benign	Het
Gm6899	A	G	11: 26,593,768		probably benign	Het
Gm9745	C	A	13: 8,940,766		probably benign	Het
Gpx8	T	C	13: 113,045,501	T133A	possibly damaging	Het
Grin3a	C	T	4: 49,665,351	V1095M	probably damaging	Het
Grip2	T	C	6: 91,796,197		probably benign	Het
Hacd4	A	G	4: 88,437,520	F43L	probably damaging	Het
Hif1a	T	G	12: 73,942,275	S645R	probably benign	Het
Hipk3	A	G	2: 104,433,637	S839P	possibly damaging	Het
Il16	A	T	7: 83,677,975		probably benign	Het
Il3ra	T	A	14: 14,351,166		probably null	Het
Il5ra	A	G	6: 106,744,335	M1T	probably null	Het
Klra2	G	A	6: 131,220,185	R251C	probably benign	Het
Lamc2	C	T	1: 153,133,621	V813M	probably benign	Het
Lbr	A	G	1: 181,832,213	V139A	probably benign	Het
Lrp5	T	C	19: 3,600,777	D1219G	possibly damaging	Het
Map3k6	C	T	4: 133,245,552	P341S	possibly damaging	Het
Mcts2	A	G	2: 152,687,689	E140G	probably benign	Het
Med1	T	C	11: 98,169,438	M222V	probably benign	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Muc19	A	T	15: 91,900,502		noncoding transcript	Het
Nr1h2	A	G	7: 44,552,260		probably benign	Het
Olfr1361	C	A	13: 21,659,146	R59L	probably damaging	Het
Olfr205	A	T	16: 59,328,760	F250I	probably damaging	Het
Olfr682-ps1	A	G	7: 105,128,218	V73A	possibly damaging	Het
Olfr71	A	T	4: 43,706,592		probably null	Het
P4hb	G	A	11: 120,568,244	T141I	possibly damaging	Het
Polr3a	A	G	14: 24,484,134	V101A	probably benign	Het
Pou4f2	A	G	8: 78,435,240	S245P	probably benign	Het
Rnpep	A	G	1: 135,272,419	V266A	probably damaging	Het
Scly	G	A	1: 91,309,833	G206R	probably damaging	Het
Sec14l3	A	T	11: 4,074,814	K254N	probably damaging	Het
Sgpp1	A	T	12: 75,735,100	I155N	probably damaging	Het
Slc22a14	A	G	9: 119,172,124	L468P	probably damaging	Het
Slc22a27	A	G	19: 7,865,884	F377L	probably benign	Het
Slc47a2	A	T	11: 61,309,976	I373N	probably damaging	Het
Slfn10-ps	A	T	11: 83,035,653		noncoding transcript	Het
Smarcd1	T	A	15: 99,711,094	I383N	probably damaging	Het
Sort1	A	G	3: 108,338,910	D401G	probably damaging	Het
Sprr2a3	G	T	3: 92,288,590	M1I	probably null	Het
Sycp2	A	C	2: 178,356,580	V1049G	possibly damaging	Het
Tecrl	T	A	5: 83,354,928	K10*	probably null	Het
Tnpo3	A	T	6: 29,578,565	C303*	probably null	Het
Vmn2r23	A	G	6: 123,729,721	I503M	probably benign	Het
Zbtb8os	T	A	4: 129,346,877	I164N	probably damaging	Het
Zfp292	T	C	4: 34,807,399	N1882D	probably benign	Het
Zfp91	T	C	19: 12,770,095	I555V	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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTAGACTTTGTCTCGGTGTCAC -3'
(R):5'- TCCTCCGCAGACAGGACACATTTC -3'

Sequencing Primer
(F):5'- GTGTCACAGGTAGTCAAAGTTCTC -3'
(R):5'- CGGCAGGTACTGGATTTCAAC -3'

Posted On

2013-07-11