Mutagenetix > Incidental Mutation

Incidental Mutation 'R6194:Slc36a4'

502795

Institutional Source

Beutler Lab

Gene Symbol

Slc36a4

Ensembl Gene

ENSMUSG00000043885

Gene Name

solute carrier family 36 (proton/amino acid symporter), member 4

Synonyms

6330573I15Rik, PAT4

MMRRC Submission

044334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15621034-15653684 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 15638172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 199 (C199*)

Ref Sequence

ENSEMBL: ENSMUSP00000111251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061568] [ENSMUST00000115588]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000061568
AA Change: C199*

SMART Domains

Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: C199*

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	54	470	4.5e-82	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115588
AA Change: C199*

SMART Domains

Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: C199*

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	54	401	2e-66	PFAM
Pfam:AA_permease_2	56	371	3.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214954

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,033 (GRCm39)	I90V	probably benign	Het
Afap1l2	T	A	19: 56,911,383 (GRCm39)	R370S	probably damaging	Het
Alcam	A	G	16: 52,088,761 (GRCm39)	Y537H	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asap1	A	G	15: 64,001,058 (GRCm39)	S508P	probably damaging	Het
Atg5	T	C	10: 44,170,612 (GRCm39)	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,127,057 (GRCm39)	P502S	probably damaging	Het
AW209491	T	A	13: 14,811,705 (GRCm39)	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,272,744 (GRCm39)	Y1354H	probably damaging	Het
Card6	A	T	15: 5,127,926 (GRCm39)	S1157T	unknown	Het
Chil6	A	G	3: 106,312,192 (GRCm39)		probably null	Het
Chrna1	A	G	2: 73,400,816 (GRCm39)	V238A	probably benign	Het
Cluap1	A	G	16: 3,747,770 (GRCm39)	S308G	probably benign	Het
Cntnap4	A	G	8: 113,602,061 (GRCm39)	D1155G	probably damaging	Het
Cptp	A	G	4: 155,951,098 (GRCm39)	F123L	probably damaging	Het
Elapor1	T	C	3: 108,373,095 (GRCm39)	I600V	probably benign	Het
Fbxw2	G	A	2: 34,697,416 (GRCm39)	T317I	probably damaging	Het
Gc	A	T	5: 89,589,438 (GRCm39)	V197E	probably benign	Het
Gusb	C	T	5: 130,018,906 (GRCm39)	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,795,228 (GRCm39)	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,274,104 (GRCm39)	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,771,748 (GRCm39)	K298N	probably damaging	Het
Hunk	A	T	16: 90,293,283 (GRCm39)	T522S	probably damaging	Het
Ifit3	T	C	19: 34,565,027 (GRCm39)	F191S	probably benign	Het
Ifnab	T	A	4: 88,609,362 (GRCm39)	K35*	probably null	Het
Ifnab	G	T	4: 88,609,363 (GRCm39)	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,312,003 (GRCm39)	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,916,916 (GRCm39)	A71V	possibly damaging	Het
Irag1	T	C	7: 110,498,901 (GRCm39)	N377D	probably damaging	Het
Lim2	T	A	7: 43,085,086 (GRCm39)	C159S	probably damaging	Het
Lrrc56	T	C	7: 140,785,564 (GRCm39)	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,212,698 (GRCm39)	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mboat2	T	A	12: 24,996,637 (GRCm39)	S213R	probably benign	Het
Mmel1	T	A	4: 154,967,673 (GRCm39)	C99*	probably null	Het
Myo9a	A	G	9: 59,777,033 (GRCm39)	I1144V	probably benign	Het
Naa15	A	G	3: 51,370,721 (GRCm39)	T612A	probably benign	Het
Naalad2	C	T	9: 18,262,443 (GRCm39)	V362I	probably benign	Het
Nbeal1	A	T	1: 60,296,643 (GRCm39)	I1178F	possibly damaging	Het
Nras	C	A	3: 102,966,269 (GRCm39)	A11E	probably damaging	Het
Or13f5	T	A	4: 52,825,779 (GRCm39)	C127*	probably null	Het
Or56a3b	G	T	7: 104,771,377 (GRCm39)	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,475,199 (GRCm39)	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Pfkfb2	A	G	1: 130,625,624 (GRCm39)	*519Q	probably null	Het
Prodh	A	T	16: 17,890,381 (GRCm39)	H515Q	probably benign	Het
Rbfox2	T	C	15: 76,968,357 (GRCm39)	T435A	possibly damaging	Het
Rbks	T	C	5: 31,824,234 (GRCm39)	E87G	probably benign	Het
Scyl1	G	T	19: 5,820,334 (GRCm39)	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,232,762 (GRCm39)	D222E	probably benign	Het
Slx1b	C	T	7: 126,291,503 (GRCm39)	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,693,083 (GRCm39)	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tfpt	A	T	7: 3,632,026 (GRCm39)	L28Q	probably damaging	Het
Trap1	G	A	16: 3,872,664 (GRCm39)	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,918,847 (GRCm39)	F110I	probably damaging	Het
Zfp345	A	T	2: 150,314,551 (GRCm39)	C329S	probably damaging	Het

Other mutations in Slc36a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02631:Slc36a4	APN	9	15,638,237 (GRCm39)	missense	probably damaging	1.00
IGL03235:Slc36a4	APN	9	15,634,845 (GRCm39)	missense	probably damaging	1.00
R0418:Slc36a4	UTSW	9	15,645,562 (GRCm39)	missense	probably damaging	1.00
R1112:Slc36a4	UTSW	9	15,634,811 (GRCm39)	missense	possibly damaging	0.58
R1219:Slc36a4	UTSW	9	15,634,832 (GRCm39)	missense	probably damaging	1.00
R1858:Slc36a4	UTSW	9	15,632,006 (GRCm39)	missense	probably damaging	1.00
R1934:Slc36a4	UTSW	9	15,632,085 (GRCm39)	missense	probably damaging	0.99
R1975:Slc36a4	UTSW	9	15,645,506 (GRCm39)	missense	probably damaging	1.00
R1976:Slc36a4	UTSW	9	15,645,506 (GRCm39)	missense	probably damaging	1.00
R1977:Slc36a4	UTSW	9	15,645,506 (GRCm39)	missense	probably damaging	1.00
R2069:Slc36a4	UTSW	9	15,638,276 (GRCm39)	missense	probably damaging	0.97
R3735:Slc36a4	UTSW	9	15,649,569 (GRCm39)	nonsense	probably null
R4682:Slc36a4	UTSW	9	15,638,144 (GRCm39)	nonsense	probably null
R5244:Slc36a4	UTSW	9	15,645,574 (GRCm39)	missense	probably benign	0.29
R5268:Slc36a4	UTSW	9	15,638,212 (GRCm39)	missense	possibly damaging	0.74
R5641:Slc36a4	UTSW	9	15,640,098 (GRCm39)	splice site	probably null
R5888:Slc36a4	UTSW	9	15,638,324 (GRCm39)	missense	probably damaging	1.00
R6651:Slc36a4	UTSW	9	15,634,874 (GRCm39)	missense	probably benign	0.00
R7023:Slc36a4	UTSW	9	15,630,929 (GRCm39)	missense	probably benign	0.01
R7114:Slc36a4	UTSW	9	15,633,250 (GRCm39)	missense	probably benign	0.04
R7263:Slc36a4	UTSW	9	15,633,452 (GRCm39)	splice site	probably null
R7538:Slc36a4	UTSW	9	15,645,511 (GRCm39)	missense	possibly damaging	0.93
R7564:Slc36a4	UTSW	9	15,638,108 (GRCm39)	missense	probably damaging	0.99
R7757:Slc36a4	UTSW	9	15,630,956 (GRCm39)	missense	possibly damaging	0.74
R8731:Slc36a4	UTSW	9	15,631,048 (GRCm39)	missense	possibly damaging	0.90
R8742:Slc36a4	UTSW	9	15,632,039 (GRCm39)	missense	probably damaging	1.00
R9352:Slc36a4	UTSW	9	15,633,319 (GRCm39)	critical splice donor site	probably null
R9385:Slc36a4	UTSW	9	15,645,563 (GRCm39)	missense	probably damaging	1.00
X0018:Slc36a4	UTSW	9	15,645,508 (GRCm39)	missense	possibly damaging	0.86
Z1177:Slc36a4	UTSW	9	15,632,016 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc36a4	UTSW	9	15,630,937 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTCACAGTGAGACATTGAG -3'
(R):5'- TGGGAACACAGGACGGTTAC -3'

Sequencing Primer
(F):5'- TCACCAGTGTCACAGGGCTTG -3'
(R):5'- AGGACGGTTACCCAAAAGC -3'

Posted On

2018-02-27