Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Slc36a4'

551683

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

045244-MU

Accession Numbers

Essential gene?

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

Stock #

R7114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15621034-15653684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15633250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 95 (F95L)

Ref Sequence

ENSEMBL: ENSMUSP00000057355 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061568
AA Change: F95L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: F95L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115588
AA Change: F95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: F95L

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		probably benign	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
R6194:Slc36a4	UTSW	9	15,638,172 (GRCm39)	nonsense	probably null
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
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'- TGCAAAGTCAGCAAGGTAGC -3'
(R):5'- AGTCCCATGGTCATTATCTCAGC -3'

Sequencing Primer
(F):5'- GTCAGCAAGGTAGCATCATTGTC -3'
(R):5'- ATGGTCATTATCTCAGCTGTGTC -3'

Posted On

2019-05-15