Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4466001:Slc36a1'

555795

Institutional Source

Beutler Lab

Gene Symbol

Slc36a1

Ensembl Gene

ENSMUSG00000020261

Gene Name

solute carrier family 36 (proton/amino acid symporter), member 1

Synonyms

Pat1, 5830411H19Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.556) question?

Stock #

PIT4466001 (G1)

Quality Score

149.008

Status

Not validated

Chromosome

Chromosomal Location

55095176-55127156 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55109895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 68 (P68T)

Ref Sequence

ENSEMBL: ENSMUSP00000020499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020499] [ENSMUST00000108867] [ENSMUST00000108872] [ENSMUST00000147506]

AlphaFold

Q8K4D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020499
AA Change: P68T

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

SMART Domains

Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261
AA Change: P68T

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Pfam:Aa_trans	44	456	5e-77	PFAM
low complexity region	462	472	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108867
AA Change: P68T

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

SMART Domains

Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261
AA Change: P68T

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Pfam:Aa_trans	44	456	5e-77	PFAM
low complexity region	462	472	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108872
AA Change: P68T

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

SMART Domains

Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261
AA Change: P68T

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Pfam:Aa_trans	44	456	1.6e-77	PFAM
low complexity region	462	472	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147506
AA Change: P68T

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

SMART Domains

Protein: ENSMUSP00000121398
Gene: ENSMUSG00000020261
AA Change: P68T

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
Pfam:Aa_trans	44	164	1e-23	PFAM

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 85.1%
20x: 72.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,502,613 (GRCm39)	P258T	probably damaging	Het
Adamts1	C	A	16: 85,593,579 (GRCm39)	G719*	probably null	Het
Ano5	G	T	7: 51,194,599 (GRCm39)	D111Y	probably damaging	Het
Arvcf	T	C	16: 18,221,699 (GRCm39)	V714A	possibly damaging	Het
AU021092	T	A	16: 5,038,253 (GRCm39)	S85C	probably damaging	Het
Capn5	T	C	7: 97,773,195 (GRCm39)	D603G	probably benign	Het
Cbr1	T	A	16: 93,406,692 (GRCm39)	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,126,184 (GRCm39)	M102V	unknown	Het
Ccr1	T	C	9: 123,763,765 (GRCm39)	Y255C	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cep112	A	G	11: 108,410,722 (GRCm39)	T553A	probably benign	Het
Chd7	C	T	4: 8,753,101 (GRCm39)	L533F	unknown	Het
Cntnap1	T	C	11: 101,068,131 (GRCm39)	F48L	probably benign	Het
Cyb5r3	T	C	15: 83,046,064 (GRCm39)	D84G	probably damaging	Het
Ddx47	T	C	6: 134,992,803 (GRCm39)	I154T	probably benign	Het
Dennd2b	G	A	7: 109,130,337 (GRCm39)	A888V	probably damaging	Het
Dnah6	A	G	6: 73,185,624 (GRCm39)	L99P	probably benign	Het
Dzank1	A	G	2: 144,325,293 (GRCm39)	I558T	probably benign	Het
Fbn1	T	C	2: 125,148,421 (GRCm39)	D2609G	possibly damaging	Het
Fhl5	C	A	4: 25,211,194 (GRCm39)	C166F	probably damaging	Het
Fndc1	A	G	17: 7,969,206 (GRCm39)	L1553P	probably damaging	Het
Frem1	G	A	4: 82,890,374 (GRCm39)	T1035I	probably benign	Het
Gm3099	A	G	14: 15,346,517 (GRCm39)	M128V	probably benign	Het
Gpaa1	C	T	15: 76,218,940 (GRCm39)	T594I	probably benign	Het
Hck	C	T	2: 152,966,191 (GRCm39)	T55M	probably damaging	Het
Hectd4	T	C	5: 121,471,123 (GRCm39)		probably null	Het
Ica1l	C	T	1: 60,054,995 (GRCm39)		probably null	Het
Ilf3	T	C	9: 21,314,662 (GRCm39)	Y765H	unknown	Het
Mast4	G	A	13: 102,941,226 (GRCm39)	T277M	probably damaging	Het
Mfsd6	T	C	1: 52,748,056 (GRCm39)	T270A	probably benign	Het
Mib1	G	A	18: 10,775,541 (GRCm39)	D498N	probably benign	Het
Naaladl1	A	T	19: 6,164,663 (GRCm39)	T576S	possibly damaging	Het
Ncoa6	A	T	2: 155,247,577 (GRCm39)	I1909N	probably benign	Het
Negr1	A	G	3: 156,565,235 (GRCm39)	D107G	probably benign	Het
Nlrc4	A	G	17: 74,734,114 (GRCm39)	M933T	probably benign	Het
Nmnat3	T	G	9: 98,292,306 (GRCm39)	F184V	probably benign	Het
Or4b12	A	T	2: 90,096,639 (GRCm39)	V45E	probably damaging	Het
Or5p81	T	C	7: 108,266,743 (GRCm39)	V40A	possibly damaging	Het
Or6c76	C	T	10: 129,612,142 (GRCm39)	R120C	probably benign	Het
Or7a42	C	A	10: 78,791,676 (GRCm39)	F212L	probably benign	Het
Pfkfb4	T	C	9: 108,828,222 (GRCm39)	Y86H	probably benign	Het
Pgm5	T	G	19: 24,801,693 (GRCm39)	Q178H	probably damaging	Het
Phrf1	C	T	7: 140,838,725 (GRCm39)	T640M	unknown	Het
Pramel34	A	C	5: 93,784,147 (GRCm39)	L439R	probably damaging	Het
Psg18	T	G	7: 18,083,241 (GRCm39)	T305P	probably benign	Het
Skil	T	A	3: 31,152,381 (GRCm39)	V301D	probably damaging	Het
Smim6	T	C	11: 115,804,371 (GRCm39)	F53L	probably benign	Het
Tpgs2	G	A	18: 25,301,652 (GRCm39)	T5M	possibly damaging	Het
Trrap	T	A	5: 144,765,410 (GRCm39)	V2523D	probably benign	Het
Usp9y	A	T	Y: 1,432,197 (GRCm39)	D429E	probably damaging	Het
Vmn1r125	A	G	7: 21,006,818 (GRCm39)	T239A	probably benign	Het
Vmn1r168	T	C	7: 23,240,421 (GRCm39)	F93L	probably damaging	Het
Vmn1r88	A	G	7: 12,912,403 (GRCm39)	N253S	possibly damaging	Het
Zfp644	C	T	5: 106,784,343 (GRCm39)	A735T	probably damaging	Het

Other mutations in Slc36a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Slc36a1	APN	11	55,116,954 (GRCm39)	missense	probably damaging	1.00
IGL01520:Slc36a1	APN	11	55,110,482 (GRCm39)	missense	probably benign	0.11
IGL01653:Slc36a1	APN	11	55,119,147 (GRCm39)	missense	possibly damaging	0.73
IGL02801:Slc36a1	APN	11	55,116,879 (GRCm39)	missense	probably benign	0.04
IGL03093:Slc36a1	APN	11	55,110,430 (GRCm39)	missense	probably benign	0.09
IGL03183:Slc36a1	APN	11	55,119,017 (GRCm39)	missense	probably damaging	1.00
R0058:Slc36a1	UTSW	11	55,112,820 (GRCm39)	splice site	probably benign
R0058:Slc36a1	UTSW	11	55,112,820 (GRCm39)	splice site	probably benign
R0288:Slc36a1	UTSW	11	55,109,913 (GRCm39)	missense	probably damaging	1.00
R0411:Slc36a1	UTSW	11	55,123,333 (GRCm39)	missense	probably benign	0.00
R0964:Slc36a1	UTSW	11	55,116,780 (GRCm39)	unclassified	probably benign
R1730:Slc36a1	UTSW	11	55,114,498 (GRCm39)	missense	probably damaging	1.00
R1748:Slc36a1	UTSW	11	55,119,150 (GRCm39)	missense	probably damaging	1.00
R1783:Slc36a1	UTSW	11	55,114,498 (GRCm39)	missense	probably damaging	1.00
R1826:Slc36a1	UTSW	11	55,111,279 (GRCm39)	missense	probably benign	0.01
R2029:Slc36a1	UTSW	11	55,119,164 (GRCm39)	missense	probably benign	0.37
R2927:Slc36a1	UTSW	11	55,123,201 (GRCm39)	missense	probably damaging	1.00
R4541:Slc36a1	UTSW	11	55,112,849 (GRCm39)	missense	probably benign	0.35
R7033:Slc36a1	UTSW	11	55,114,563 (GRCm39)	missense	probably benign	0.05
R7059:Slc36a1	UTSW	11	55,114,498 (GRCm39)	missense	probably damaging	1.00
R7583:Slc36a1	UTSW	11	55,104,754 (GRCm39)	critical splice acceptor site	probably null
R8672:Slc36a1	UTSW	11	55,123,334 (GRCm39)	missense	possibly damaging	0.89
Z1176:Slc36a1	UTSW	11	55,115,796 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAACAGCACCAGGTTGCTG -3'
(R):5'- GGTCAGCACTTGGACAGTCAATG -3'

Sequencing Primer
(F):5'- CCAGGTTGCTGGGAGATCTGATAAG -3'
(R):5'- CAGTCAATGTCTCTGAAACCGTGG -3'

Posted On

2019-06-07