Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Slc36a4'

710265

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

Accession Numbers

Essential gene?

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

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15621034-15653684 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15645563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 330 (I330T)

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: I330T

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

SMART Domains

Protein: ENSMUSP00000057355
Gene: ENSMUSG00000043885
AA Change: I330T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115588
AA Change: I330T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111251
Gene: ENSMUSG00000043885
AA Change: I330T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,207,966 (GRCm39)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,077,258 (GRCm39)	C1308*	probably null	Het
Ank2	A	G	3: 126,753,366 (GRCm39)	V305A	probably benign	Het
Apob	A	G	12: 8,056,399 (GRCm39)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,477,887 (GRCm39)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,322,551 (GRCm39)	Y29*	probably null	Het
Card11	C	A	5: 140,871,276 (GRCm39)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,405,422 (GRCm39)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,833,533 (GRCm39)	R211W	probably benign	Het
Cda	T	G	4: 138,078,598 (GRCm39)	I55L	probably benign	Het
Cdkl3	A	C	11: 51,926,779 (GRCm39)	E577D	probably benign	Het
Cel	T	C	2: 28,450,587 (GRCm39)	D146G	probably damaging	Het
Cfap251	T	C	5: 123,426,878 (GRCm39)	L919S	probably damaging	Het
Cmya5	A	G	13: 93,230,880 (GRCm39)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,455,912 (GRCm39)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm39)	Q1045*	probably null	Het
Csmd1	T	C	8: 16,034,756 (GRCm39)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,601,069 (GRCm39)	R22C	probably benign	Het
Ddit4	A	G	10: 59,787,178 (GRCm39)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,843,096 (GRCm39)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,361,972 (GRCm39)	L3677I	probably damaging	Het
Dscam	T	C	16: 96,840,203 (GRCm39)	T135A	probably benign	Het
Espl1	T	A	15: 102,207,185 (GRCm39)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,819,793 (GRCm39)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,074,120 (GRCm39)		probably benign	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gm3264	T	C	14: 16,058,217 (GRCm39)	I8T	possibly damaging	Het
Gsdmc	A	T	15: 63,675,486 (GRCm39)	Y110N	possibly damaging	Het
H13	A	G	2: 152,537,413 (GRCm39)	N286S	probably benign	Het
H2ac1	A	T	13: 24,118,679 (GRCm39)	I79F	probably damaging	Het
Heatr1	A	G	13: 12,421,423 (GRCm39)	D441G	probably damaging	Het
Hps6	A	G	19: 45,994,349 (GRCm39)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,292,812 (GRCm39)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,738,993 (GRCm39)	I267T	probably benign	Het
Mdc1	A	G	17: 36,161,396 (GRCm39)	K770E	probably benign	Het
Mlh3	C	T	12: 85,316,144 (GRCm39)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,694,750 (GRCm39)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,361,015 (GRCm39)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,781,876 (GRCm39)	G527D	probably damaging	Het
Nop9	A	G	14: 55,988,584 (GRCm39)	E342G	probably benign	Het
Ntn1	C	A	11: 68,276,013 (GRCm39)	G312C	probably damaging	Het
Opcml	T	C	9: 28,586,459 (GRCm39)	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,425 (GRCm39)	Y193S	probably damaging	Het
Or10ad1c	C	T	15: 98,085,486 (GRCm39)	S64N	probably damaging	Het
Or5p54	T	A	7: 107,554,780 (GRCm39)	*311K	probably null	Het
Pabpc4l	A	T	3: 46,401,137 (GRCm39)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,437,982 (GRCm39)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,074,238 (GRCm39)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,116,377 (GRCm39)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,431,724 (GRCm39)	V571A	possibly damaging	Het
Pnma2	A	G	14: 67,153,371 (GRCm39)		probably benign	Het
Rnf123	T	A	9: 107,929,467 (GRCm39)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	T	C	13: 34,528,561 (GRCm39)	S74G	probably benign	Het
Snrk	A	T	9: 121,995,463 (GRCm39)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,079,978 (GRCm39)		probably null	Het
Spata31d1b	T	C	13: 59,863,403 (GRCm39)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,032,241 (GRCm39)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,700,356 (GRCm39)	Q858K	probably damaging	Het
Tex55	T	G	16: 38,648,407 (GRCm39)	D234A	probably benign	Het
Tial1	A	G	7: 128,044,209 (GRCm39)	C102R	unknown	Het
Ugt8a	A	T	3: 125,665,263 (GRCm39)	D411E	probably benign	Het
Usp34	A	G	11: 23,399,223 (GRCm39)	D2404G		Het
Vmn1r10	A	C	6: 57,090,833 (GRCm39)	I142L	probably benign	Het
Wdr97	A	G	15: 76,240,367 (GRCm39)	T352A		Het
Xpo7	A	T	14: 70,925,733 (GRCm39)	D435E	probably damaging	Het
Zmym1	A	G	4: 126,952,683 (GRCm39)	S33P	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
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
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'- ACAGGAGATGGACCAACTTGTC -3'
(R):5'- ATCTTCGGTTTCCACTGATAAGG -3'

Sequencing Primer
(F):5'- GGACCAACTTGTCTATCTAACAAG -3'
(R):5'- GACAGACACATAGCTAGGAC -3'

Posted On

2022-04-18