Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Slc36a1'

81501

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

MMRRC Submission

039093-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.661) question?

Stock #

R0964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55095176-55127156 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 55116780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121398 (fasta)

Gene Model

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

AlphaFold

Q8K4D3

Predicted Effect

probably benign
Transcript: ENSMUST00000020499

SMART Domains

Protein: ENSMUSP00000020499
Gene: ENSMUSG00000020261

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 benign
Transcript: ENSMUST00000108867

SMART Domains

Protein: ENSMUSP00000104495
Gene: ENSMUSG00000020261

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 benign
Transcript: ENSMUST00000108872

SMART Domains

Protein: ENSMUSP00000104500
Gene: ENSMUSG00000020261

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 benign
Transcript: ENSMUST00000147506

SMART Domains

Protein: ENSMUSP00000121398
Gene: ENSMUSG00000020261

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

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
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acacb	A	T	5: 114,367,813 (GRCm39)	M1604L	possibly damaging	Het
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgrl1	T	C	8: 84,661,041 (GRCm39)		probably benign	Het
Alppl2	C	T	1: 87,015,446 (GRCm39)	V372I	possibly damaging	Het
Apol8	C	T	15: 77,633,811 (GRCm39)	S255N	probably benign	Het
Atp8b4	A	T	2: 126,179,413 (GRCm39)	F973I	probably damaging	Het
Bbs4	A	G	9: 59,230,259 (GRCm39)	*150Q	probably null	Het
Bltp3a	A	T	17: 28,106,152 (GRCm39)	T893S	probably damaging	Het
Cacna1h	A	T	17: 25,597,749 (GRCm39)		probably benign	Het
Ccn1	C	A	3: 145,353,503 (GRCm39)	C353F	probably damaging	Het
Ccser2	C	T	14: 36,630,965 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,741,832 (GRCm39)	E1607G	probably benign	Het
Clca4b	A	G	3: 144,621,337 (GRCm39)	I579T	probably benign	Het
Col20a1	T	A	2: 180,626,278 (GRCm39)		probably benign	Het
Creg2	T	C	1: 39,664,144 (GRCm39)	I205V	probably benign	Het
Ddx24	C	T	12: 103,390,166 (GRCm39)	R275H	probably damaging	Het
Dip2c	G	A	13: 9,618,699 (GRCm39)	A579T	probably benign	Het
Dnah3	T	C	7: 119,551,962 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Gckr	T	C	5: 31,484,259 (GRCm39)		probably benign	Het
Gpbp1l1	A	G	4: 116,438,436 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,281,523 (GRCm39)	T1913A	probably benign	Het
Lmo7	T	C	14: 102,158,003 (GRCm39)		probably benign	Het
Meioc	G	A	11: 102,570,857 (GRCm39)	V863I	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Myh1	A	G	11: 67,096,751 (GRCm39)	I341V	probably benign	Het
Myh13	A	G	11: 67,235,828 (GRCm39)	T664A	probably benign	Het
Myo3b	A	C	2: 70,257,193 (GRCm39)	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,378,243 (GRCm39)		probably null	Het
Nr3c2	A	G	8: 77,635,297 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,238,186 (GRCm39)	S249P	probably damaging	Het
Or52z1	C	T	7: 103,436,604 (GRCm39)	M293I	probably benign	Het
Or8k16	A	G	2: 85,520,709 (GRCm39)	N312S	probably benign	Het
Or9a4	T	C	6: 40,549,139 (GRCm39)	V273A	probably benign	Het
Pitpnm3	G	A	11: 71,949,296 (GRCm39)	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,285,908 (GRCm39)	E176*	probably null	Het
Prdm11	C	A	2: 92,819,567 (GRCm39)		probably benign	Het
Prodh2	C	A	7: 30,205,706 (GRCm39)	R218S	probably damaging	Het
Rps15a	T	C	7: 117,714,060 (GRCm39)	D54G	probably benign	Het
Sbno2	G	T	10: 79,920,093 (GRCm39)	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,697,243 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,926,907 (GRCm39)	F567L	probably damaging	Het
Spaca6	A	T	17: 18,058,653 (GRCm39)	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,255,412 (GRCm39)	L66I	probably damaging	Het
Srsf3	T	A	17: 29,255,413 (GRCm39)	L66Q	probably damaging	Het
Syne1	T	C	10: 4,993,652 (GRCm39)	T8363A	possibly damaging	Het
Trmt1	T	A	8: 85,423,481 (GRCm39)	L298Q	probably damaging	Het
Uba6	T	C	5: 86,267,260 (GRCm39)	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,487,859 (GRCm39)	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,445,401 (GRCm39)	T8A	probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,366,769 (GRCm39)	F583V	probably damaging	Het
Zfp938	T	A	10: 82,061,253 (GRCm39)	I456F	probably benign	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
PIT4466001:Slc36a1	UTSW	11	55,109,895 (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
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'- ATGGATTAAACGGTGGGCTCTGAAG -3'
(R):5'- ATACCAGCAGTTGGGCAGGTTGAG -3'

Sequencing Primer
(F):5'- tagccagtcctcccacc -3'
(R):5'- AGGGTGATGCTGCCCTTG -3'

Posted On

2013-11-07