Mutagenetix > Incidental Mutation

Incidental Mutation 'R2141:Slc43a1'

236220

Institutional Source

Beutler Lab

Gene Symbol

Slc43a1

Ensembl Gene

ENSMUSG00000027075

Gene Name

solute carrier family 43, member 1

Synonyms

2610016F07Rik, Pov1, Lat3, PB39

MMRRC Submission

040144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R2141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84669196-84693930 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84671305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 37 (L37P)

Ref Sequence

ENSEMBL: ENSMUSP00000121368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028469] [ENSMUST00000111624] [ENSMUST00000111625] [ENSMUST00000121114] [ENSMUST00000146816]

AlphaFold

Q8BSM7

Predicted Effect

probably damaging
Transcript: ENSMUST00000028469
AA Change: L80P

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

SMART Domains

Protein: ENSMUSP00000028469
Gene: ENSMUSG00000027075
AA Change: L80P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	60	542	6.2e-14	PFAM
transmembrane domain	559	581	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111624
AA Change: L37P

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

SMART Domains

Protein: ENSMUSP00000107251
Gene: ENSMUSG00000027075
AA Change: L37P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	499	3.7e-14	PFAM
transmembrane domain	516	538	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111625
AA Change: L63P

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

SMART Domains

Protein: ENSMUSP00000107252
Gene: ENSMUSG00000027075
AA Change: L63P

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
Pfam:MFS_1	49	524	2.7e-13	PFAM
transmembrane domain	542	564	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121114
AA Change: L37P

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

SMART Domains

Protein: ENSMUSP00000112642
Gene: ENSMUSG00000027075
AA Change: L37P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	499	3.7e-14	PFAM
transmembrane domain	516	538	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145004

Predicted Effect

probably damaging
Transcript: ENSMUST00000146816
AA Change: L37P

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

SMART Domains

Protein: ENSMUSP00000121368
Gene: ENSMUSG00000027075
AA Change: L37P

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (107/110)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	G	T	11: 58,314,752 (GRCm39)	C150F	probably damaging	Het
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Abca15	A	C	7: 120,006,697 (GRCm39)	T1654P	probably damaging	Het
Abca17	T	A	17: 24,553,240 (GRCm39)	Y157F	probably benign	Het
Aftph	A	T	11: 20,648,318 (GRCm39)	L813*	probably null	Het
Agap1	T	C	1: 89,765,477 (GRCm39)	I615T	probably damaging	Het
Ak3	T	G	19: 29,000,247 (GRCm39)	Q221H	probably benign	Het
Aldoa	A	G	7: 126,396,814 (GRCm39)		probably null	Het
Anxa8	T	C	14: 33,813,873 (GRCm39)		probably null	Het
Atpsckmt	T	C	15: 31,609,718 (GRCm39)	F146L	probably benign	Het
Baz2a	A	G	10: 127,959,481 (GRCm39)	D1329G	probably damaging	Het
Calhm6	G	T	10: 34,003,691 (GRCm39)	A72E	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cep70	A	G	9: 99,178,438 (GRCm39)	Y512C	probably damaging	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Diablo	A	G	5: 123,661,424 (GRCm39)	V24A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,526,282 (GRCm39)	N335S	probably benign	Het
Flnc	A	G	6: 29,448,674 (GRCm39)	Y1304C	probably damaging	Het
Fubp3	A	G	2: 31,490,569 (GRCm39)		probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gjc3	A	C	5: 137,955,808 (GRCm39)	L159R	probably damaging	Het
Gli1	A	G	10: 127,172,596 (GRCm39)	L182P	probably damaging	Het
Gm21957	G	T	7: 124,818,625 (GRCm39)		noncoding transcript	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm5885	A	G	6: 133,506,238 (GRCm39)		noncoding transcript	Het
Gon4l	A	T	3: 88,794,902 (GRCm39)	T402S	possibly damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Gvin-ps5	T	A	7: 105,929,163 (GRCm39)	T245S	probably damaging	Het
Helb	A	T	10: 119,941,926 (GRCm39)	M254K	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Impdh2	A	G	9: 108,442,546 (GRCm39)	E305G	possibly damaging	Het
Ints7	T	A	1: 191,336,972 (GRCm39)	C351S	possibly damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Kcnq3	T	C	15: 65,867,700 (GRCm39)	M648V	probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Klhl36	T	C	8: 120,603,511 (GRCm39)	C589R	possibly damaging	Het
Lck	A	G	4: 129,442,713 (GRCm39)	Y481H	probably damaging	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Myo18b	T	C	5: 113,021,892 (GRCm39)	K500R	probably benign	Het
N4bp2l2	A	T	5: 150,571,001 (GRCm39)	I458N	probably damaging	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nfasc	G	A	1: 132,524,383 (GRCm39)	P932L	probably damaging	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nkpd1	A	G	7: 19,258,162 (GRCm39)	Q647R	probably damaging	Het
Nlrc4	T	A	17: 74,754,946 (GRCm39)		probably benign	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,313,975 (GRCm39)	T95S	probably benign	Het
Or5d43	A	G	2: 88,105,354 (GRCm39)	V13A	probably benign	Het
Or5m13	A	G	2: 85,749,171 (GRCm39)	I301V	probably null	Het
Or6c201	A	G	10: 128,968,875 (GRCm39)	I254T	probably benign	Het
Pank1	G	A	19: 34,856,380 (GRCm39)	R33C	possibly damaging	Het
Pcmtd1	C	T	1: 7,239,789 (GRCm39)	R77C	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Pramel7	T	A	2: 87,320,321 (GRCm39)	H324L	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptgr3	T	C	18: 84,112,668 (GRCm39)	Y115H	probably benign	Het
Rai1	C	A	11: 60,080,293 (GRCm39)	S1452R	possibly damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rufy2	G	T	10: 62,826,773 (GRCm39)	R104L	probably damaging	Het
Senp6	T	A	9: 80,031,102 (GRCm39)	N8K	probably damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Sipa1l2	G	A	8: 126,218,230 (GRCm39)	P369L	probably benign	Het
Slf1	T	A	13: 77,197,338 (GRCm39)		probably null	Het
Ssr2	T	A	3: 88,483,949 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tbx18	A	G	9: 87,597,706 (GRCm39)	V276A	probably damaging	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tie1	G	A	4: 118,330,008 (GRCm39)	R1072*	probably null	Het
Tm2d2	C	A	8: 25,512,674 (GRCm39)	T174K	probably damaging	Het
Tmem98	A	G	11: 80,705,158 (GRCm39)	D82G	possibly damaging	Het
Tmub2	A	G	11: 102,178,379 (GRCm39)	E94G	possibly damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Tonsl	A	T	15: 76,516,861 (GRCm39)	I923N	probably damaging	Het
Ttc21a	G	A	9: 119,793,361 (GRCm39)	V977M	probably damaging	Het
Ube2ql1	T	C	13: 69,886,783 (GRCm39)	D226G	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Wdr87-ps	T	C	7: 29,230,935 (GRCm39)		noncoding transcript	Het
Zfp408	A	G	2: 91,478,194 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp804b	A	G	5: 6,822,583 (GRCm39)	V160A	probably benign	Het
Zfp960	A	G	17: 17,308,146 (GRCm39)	T287A	probably benign	Het

Other mutations in Slc43a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02326:Slc43a1	APN	2	84,680,115 (GRCm39)	missense	probably damaging	1.00
IGL02480:Slc43a1	APN	2	84,669,928 (GRCm39)	missense	probably benign	0.02
IGL02740:Slc43a1	APN	2	84,690,094 (GRCm39)	missense	probably damaging	1.00
IGL02972:Slc43a1	APN	2	84,690,462 (GRCm39)	missense	probably damaging	1.00
IGL03046:Slc43a1	APN	2	84,684,897 (GRCm39)	unclassified	probably benign
IGL03166:Slc43a1	APN	2	84,687,700 (GRCm39)	missense	possibly damaging	0.91
R1470:Slc43a1	UTSW	2	84,690,020 (GRCm39)	splice site	probably benign
R1982:Slc43a1	UTSW	2	84,687,233 (GRCm39)	missense	possibly damaging	0.94
R2087:Slc43a1	UTSW	2	84,680,175 (GRCm39)	missense	probably damaging	1.00
R2969:Slc43a1	UTSW	2	84,687,679 (GRCm39)	missense	probably damaging	1.00
R6208:Slc43a1	UTSW	2	84,687,184 (GRCm39)	missense	possibly damaging	0.54
R6362:Slc43a1	UTSW	2	84,690,128 (GRCm39)	missense	probably damaging	1.00
R7341:Slc43a1	UTSW	2	84,693,278 (GRCm39)	missense	probably damaging	1.00
R7768:Slc43a1	UTSW	2	84,687,215 (GRCm39)	missense	probably damaging	1.00
R7776:Slc43a1	UTSW	2	84,671,197 (GRCm39)	missense	probably damaging	1.00
R7859:Slc43a1	UTSW	2	84,687,220 (GRCm39)	missense	possibly damaging	0.83
R8082:Slc43a1	UTSW	2	84,687,244 (GRCm39)	missense	probably benign
R8240:Slc43a1	UTSW	2	84,690,167 (GRCm39)	missense	possibly damaging	0.67
R8395:Slc43a1	UTSW	2	84,671,266 (GRCm39)	missense	probably damaging	1.00
R8861:Slc43a1	UTSW	2	84,691,748 (GRCm39)	missense	possibly damaging	0.76
R8937:Slc43a1	UTSW	2	84,690,450 (GRCm39)	missense	probably damaging	1.00
R9383:Slc43a1	UTSW	2	84,690,506 (GRCm39)	missense	probably damaging	1.00
X0019:Slc43a1	UTSW	2	84,685,927 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- CCACCATGATGGAGTACCCTTC -3'
(R):5'- AGGCTGTCCAATTCCTAGCTG -3'

Sequencing Primer
(F):5'- TGATGGAGTACCCTTCCCAAG -3'
(R):5'- AATTCCTAGCTGCCCAGTG -3'

Posted On

2014-10-01