Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Slc36a4'

597619

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

045813-MU

Accession Numbers

Essential gene?

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

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15709738-15743361 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15719660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 25 (N25S)

Ref Sequence

ENSEMBL: ENSMUSP00000057355 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061568
AA Change: N25S

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: N25S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115588
AA Change: N25S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: N25S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,189,413 (GRCm38)	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431 (GRCm38)	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166 (GRCm38)	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278 (GRCm38)	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158 (GRCm38)		probably null	Het
Bche	T	A	3: 73,701,121 (GRCm38)	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740 (GRCm38)	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821 (GRCm38)	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434 (GRCm38)	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467 (GRCm38)	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822 (GRCm38)	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272 (GRCm38)	T103S	possibly damaging	Het
Cplane1	A	T	15: 8,252,227 (GRCm38)	E2850V	unknown	Het
Cpne9	G	A	6: 113,284,445 (GRCm38)	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456 (GRCm38)	I2043N		Het
Disc1	A	G	8: 125,087,504 (GRCm38)	T36A	probably benign	Het
Disp2	T	C	2: 118,790,910 (GRCm38)	Y708H	probably damaging	Het
Dnah3	A	T	7: 119,971,215 (GRCm38)		probably null	Het
Dnah3	A	G	7: 120,071,570 (GRCm38)	V635A	probably benign	Het
Dync1li1	A	G	9: 114,709,277 (GRCm38)	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966 (GRCm38)	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719 (GRCm38)	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421 (GRCm38)	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503 (GRCm38)		probably null	Het
Ginm1	A	T	10: 7,779,355 (GRCm38)	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433 (GRCm38)		probably benign	Het
Gm49368	C	T	7: 128,112,226 (GRCm38)	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208 (GRCm38)	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344 (GRCm38)	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451 (GRCm38)	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915 (GRCm38)	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237 (GRCm38)	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981 (GRCm38)	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522 (GRCm38)	K637*	probably null	Het
Jak2	T	C	19: 29,283,546 (GRCm38)	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623 (GRCm38)		probably benign	Het
Mill1	T	C	7: 18,262,466 (GRCm38)	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884 (GRCm38)		probably null	Het
Mup8	T	A	4: 60,220,333 (GRCm38)	Q133L	probably benign	Het
Mup8	C	A	4: 60,220,332 (GRCm38)	Q133H	probably benign	Het
Mycbp2	A	T	14: 103,191,619 (GRCm38)	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450 (GRCm38)	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196 (GRCm38)	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898 (GRCm38)	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561 (GRCm38)	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995 (GRCm38)	S145P	probably benign	Het
Or10d1	A	G	9: 39,572,465 (GRCm38)	W265R	probably benign	Het
Or4c117	T	C	2: 89,124,989 (GRCm38)	I247M	possibly damaging	Het
Osbpl1a	A	T	18: 12,933,600 (GRCm38)	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921 (GRCm38)	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834 (GRCm38)	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151 (GRCm38)		probably benign	Het
Pkhd1	A	G	1: 20,562,415 (GRCm38)	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376 (GRCm38)	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236 (GRCm38)	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695 (GRCm38)	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087 (GRCm38)	E117V	possibly damaging	Het
Septin11	A	T	5: 93,171,464 (GRCm38)		probably null	Het
Shprh	A	T	10: 11,162,180 (GRCm38)	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973 (GRCm38)	H232L	probably benign	Het
Slitrk3	G	A	3: 73,050,839 (GRCm38)	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013 (GRCm38)	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165 (GRCm38)	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585 (GRCm38)	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794 (GRCm38)	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943 (GRCm38)		probably null	Het
Stox1	T	C	10: 62,663,964 (GRCm38)	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779 (GRCm38)	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858 (GRCm38)	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008 (GRCm38)	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490 (GRCm38)	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341 (GRCm38)		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330 (GRCm38)		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm38)		probably benign	Het
Vmn2r43	A	T	7: 8,255,254 (GRCm38)	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278 (GRCm38)	G204*	probably null	Het

Other mutations in Slc36a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02631:Slc36a4	APN	9	15,726,941 (GRCm38)	missense	probably damaging	1.00
IGL03235:Slc36a4	APN	9	15,723,549 (GRCm38)	missense	probably damaging	1.00
R0418:Slc36a4	UTSW	9	15,734,266 (GRCm38)	missense	probably damaging	1.00
R1112:Slc36a4	UTSW	9	15,723,515 (GRCm38)	missense	possibly damaging	0.58
R1219:Slc36a4	UTSW	9	15,723,536 (GRCm38)	missense	probably damaging	1.00
R1858:Slc36a4	UTSW	9	15,720,710 (GRCm38)	missense	probably damaging	1.00
R1934:Slc36a4	UTSW	9	15,720,789 (GRCm38)	missense	probably damaging	0.99
R1975:Slc36a4	UTSW	9	15,734,210 (GRCm38)	missense	probably damaging	1.00
R1976:Slc36a4	UTSW	9	15,734,210 (GRCm38)	missense	probably damaging	1.00
R1977:Slc36a4	UTSW	9	15,734,210 (GRCm38)	missense	probably damaging	1.00
R2069:Slc36a4	UTSW	9	15,726,980 (GRCm38)	missense	probably damaging	0.97
R3735:Slc36a4	UTSW	9	15,738,273 (GRCm38)	nonsense	probably null
R4682:Slc36a4	UTSW	9	15,726,848 (GRCm38)	nonsense	probably null
R5244:Slc36a4	UTSW	9	15,734,278 (GRCm38)	missense	probably benign	0.29
R5268:Slc36a4	UTSW	9	15,726,916 (GRCm38)	missense	possibly damaging	0.74
R5641:Slc36a4	UTSW	9	15,728,802 (GRCm38)	splice site	probably null
R5888:Slc36a4	UTSW	9	15,727,028 (GRCm38)	missense	probably damaging	1.00
R6194:Slc36a4	UTSW	9	15,726,876 (GRCm38)	nonsense	probably null
R6651:Slc36a4	UTSW	9	15,723,578 (GRCm38)	missense	probably benign	0.00
R7023:Slc36a4	UTSW	9	15,719,633 (GRCm38)	missense	probably benign	0.01
R7114:Slc36a4	UTSW	9	15,721,954 (GRCm38)	missense	probably benign	0.04
R7263:Slc36a4	UTSW	9	15,722,156 (GRCm38)	splice site	probably null
R7538:Slc36a4	UTSW	9	15,734,215 (GRCm38)	missense	possibly damaging	0.93
R7564:Slc36a4	UTSW	9	15,726,812 (GRCm38)	missense	probably damaging	0.99
R8731:Slc36a4	UTSW	9	15,719,752 (GRCm38)	missense	possibly damaging	0.90
R8742:Slc36a4	UTSW	9	15,720,743 (GRCm38)	missense	probably damaging	1.00
R9352:Slc36a4	UTSW	9	15,722,023 (GRCm38)	critical splice donor site	probably null
R9385:Slc36a4	UTSW	9	15,734,267 (GRCm38)	missense	probably damaging	1.00
X0018:Slc36a4	UTSW	9	15,734,212 (GRCm38)	missense	possibly damaging	0.86
Z1177:Slc36a4	UTSW	9	15,720,720 (GRCm38)	missense	probably damaging	1.00
Z1177:Slc36a4	UTSW	9	15,719,641 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAGGCTATACATGCTTGCATC -3'
(R):5'- TCAGACCTATGGGAGACTGAG -3'

Sequencing Primer
(F):5'- ATGTTTCAAGCAGCTGCCAG -3'
(R):5'- ACTGAGAAATGCAGGCTGC -3'

Posted On

2019-11-26