Mutagenetix > Incidental Mutation

Incidental Mutation 'R8742:Slc36a4'

663295

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

068587-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15621034-15653684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15632039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 72 (T72A)

Ref Sequence

ENSEMBL: ENSMUSP00000057355 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061568
AA Change: T72A

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

SMART Domains

Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: T72A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115588
AA Change: T72A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: T72A

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: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,265,835 (GRCm39)	I893V	probably benign	Het
Adhfe1	A	G	1: 9,630,401 (GRCm39)	I317V	probably benign	Het
Adnp2	A	G	18: 80,171,556 (GRCm39)	V951A	probably damaging	Het
Ankrd35	T	A	3: 96,586,502 (GRCm39)	H59Q	probably damaging	Het
Atg16l1	C	T	1: 87,694,620 (GRCm39)	T161I	probably damaging	Het
Axl	A	G	7: 25,463,861 (GRCm39)	V591A	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cdcp3	A	G	7: 130,783,741 (GRCm39)	I45V	unknown	Het
Ceacam13	T	A	7: 17,743,934 (GRCm39)	S14T	probably damaging	Het
Cfh	A	T	1: 140,029,390 (GRCm39)	F986L	probably damaging	Het
Cfh	G	T	1: 140,064,469 (GRCm39)	T393K	probably damaging	Het
Clic1	A	G	17: 35,274,356 (GRCm39)	N179S	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Dlat	G	T	9: 50,560,967 (GRCm39)	A360E	probably damaging	Het
Dst	T	A	1: 34,251,425 (GRCm39)	D2159E	probably benign	Het
Epn3	T	G	11: 94,386,921 (GRCm39)	T150P	probably damaging	Het
Fgr	T	C	4: 132,724,828 (GRCm39)	Y310H	probably damaging	Het
Filip1l	A	G	16: 57,391,593 (GRCm39)	Y727C	probably damaging	Het
Fis1	G	T	5: 136,982,365 (GRCm39)		probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gdf10	A	T	14: 33,654,426 (GRCm39)	H311L	probably benign	Het
Gphn	C	T	12: 78,659,766 (GRCm39)	R423C	probably damaging	Het
Gpr132	T	C	12: 112,819,517 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,744,143 (GRCm39)	T406K	probably benign	Het
Hpf1	T	C	8: 61,346,748 (GRCm39)	V21A	probably benign	Het
Ifitm6	A	G	7: 140,596,008 (GRCm39)	I75T	probably benign	Het
Itgax	A	T	7: 127,743,795 (GRCm39)	H852L	probably benign	Het
Klhl3	T	C	13: 58,159,021 (GRCm39)	Y546C	probably damaging	Het
Lbr	A	G	1: 181,644,571 (GRCm39)	L578P	possibly damaging	Het
Ltbp1	A	G	17: 75,617,217 (GRCm39)	Y734C	probably damaging	Het
Mapre2	C	A	18: 24,016,688 (GRCm39)	H281N	probably benign	Het
Mcm4	T	C	16: 15,443,430 (GRCm39)	D831G	possibly damaging	Het
Mlf1	G	A	3: 67,305,119 (GRCm39)	A207T	probably damaging	Het
Mslnl	A	T	17: 25,964,047 (GRCm39)	I459F	probably damaging	Het
Mtnr1a	A	G	8: 45,540,720 (GRCm39)	D227G	probably benign	Het
Ncapg	T	A	5: 45,851,216 (GRCm39)	L803Q	probably damaging	Het
Nr3c2	T	G	8: 77,635,210 (GRCm39)	S104A	probably damaging	Het
Or4k52	A	G	2: 111,610,910 (GRCm39)	I82V	probably benign	Het
Pard3	C	T	8: 128,050,592 (GRCm39)	A218V	possibly damaging	Het
Poteg	A	T	8: 27,984,957 (GRCm39)	N439Y	possibly damaging	Het
Pramel34	T	A	5: 93,785,935 (GRCm39)	D115V	probably damaging	Het
Ret	A	T	6: 118,155,484 (GRCm39)	L404Q	probably damaging	Het
Ripk4	A	T	16: 97,556,272 (GRCm39)	V157D	probably damaging	Het
Rsf1	CGGCGGCGGCGGCGGCGGCGGC	CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,121 (GRCm39)		probably benign	Het
Serinc1	A	T	10: 57,395,895 (GRCm39)	N298K	probably benign	Het
Sh3pxd2a	G	A	19: 47,275,073 (GRCm39)	S230L	probably benign	Het
Shb	G	C	4: 45,458,319 (GRCm39)	R282G	probably benign	Het
Skint11	T	C	4: 114,051,922 (GRCm39)	I90T	probably damaging	Het
Slc38a9	T	A	13: 112,865,818 (GRCm39)	I505K	probably damaging	Het
Sprr3	C	T	3: 92,364,307 (GRCm39)	R179H	possibly damaging	Het
Syne1	A	T	10: 5,058,661 (GRCm39)	I7284N	probably benign	Het
Timeless	A	T	10: 128,083,107 (GRCm39)	T648S	probably benign	Het
Trim44	A	G	2: 102,230,521 (GRCm39)	M170T	possibly damaging	Het
Trpm7	A	G	2: 126,667,469 (GRCm39)	F815L	probably damaging	Het
Uimc1	A	G	13: 55,240,971 (GRCm39)	L39S	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,263 (GRCm39)	T723A	probably benign	Het
Vps11	A	G	9: 44,267,070 (GRCm39)		probably benign	Het
Zp3r	A	T	1: 130,511,230 (GRCm39)	C383S	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
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
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
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'- TTCTTGACACCACAGCAGC -3'
(R):5'- TACAGTTCACATACCTATCAGGAC -3'

Sequencing Primer
(F):5'- GCAAAGTATCCTATGAGAAACTTGC -3'
(R):5'- GTTCACATACCTATCAGGACAATATC -3'

Posted On

2021-03-08