Mutagenetix > Incidental Mutation

Incidental Mutation 'R4579:Slc38a6'

343527

Institutional Source

Beutler Lab

Gene Symbol

Slc38a6

Ensembl Gene

ENSMUSG00000044712

Gene Name

solute carrier family 38, member 6

Synonyms

EG625098

MMRRC Submission

041801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73333553-73400823 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 73335298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058139] [ENSMUST00000101313] [ENSMUST00000101313] [ENSMUST00000116420] [ENSMUST00000122920] [ENSMUST00000122920] [ENSMUST00000126488] [ENSMUST00000126488] [ENSMUST00000140523] [ENSMUST00000153941] [ENSMUST00000153941] [ENSMUST00000221189]

AlphaFold

G3UVW3

Predicted Effect

probably benign
Transcript: ENSMUST00000058139

SMART Domains

Protein: ENSMUSP00000057153
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	122	9.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101313

SMART Domains

Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	1	69	4.3e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101313

SMART Domains

Protein: ENSMUSP00000098871
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	1	69	4.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116420

SMART Domains

Protein: ENSMUSP00000112121
Gene: ENSMUSG00000034442

Domain	Start	End	E-Value	Type
Pfam:Met_10	191	412	4.5e-65	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000122920

SMART Domains

Protein: ENSMUSP00000124386
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	113	3.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000122920

SMART Domains

Protein: ENSMUSP00000124386
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	113	3.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000126488

SMART Domains

Protein: ENSMUSP00000118374
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	122	9.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000126488

SMART Domains

Protein: ENSMUSP00000118374
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	122	9.5e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000140523

SMART Domains

Protein: ENSMUSP00000120810
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	452	2.5e-77	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000153941

SMART Domains

Protein: ENSMUSP00000114870
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	124	1.6e-15	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000153941

SMART Domains

Protein: ENSMUSP00000114870
Gene: ENSMUSG00000044712

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	44	124	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221189

Meta Mutation Damage Score

0.9500

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (88/91)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,031,848 (GRCm39)	I90T	probably damaging	Het
Acox3	A	G	5: 35,761,987 (GRCm39)	N444D	probably damaging	Het
Adamts16	A	G	13: 70,927,743 (GRCm39)	Y499H	probably damaging	Het
Ajm1	T	A	2: 25,469,661 (GRCm39)	R83S	possibly damaging	Het
Ank2	A	T	3: 126,752,612 (GRCm39)	V368D	probably damaging	Het
Atad5	T	C	11: 79,986,017 (GRCm39)	V368A	probably damaging	Het
Atp13a5	T	C	16: 29,067,090 (GRCm39)		probably null	Het
Bdh1	A	T	16: 31,254,954 (GRCm39)		probably benign	Het
Bmp6	A	T	13: 38,653,701 (GRCm39)	Y256F	probably damaging	Het
Bub1b	C	A	2: 118,453,657 (GRCm39)	S496*	probably null	Het
Capn15	C	T	17: 26,178,811 (GRCm39)	R1128H	probably damaging	Het
Ccnf	T	A	17: 24,450,303 (GRCm39)	R461*	probably null	Het
Col6a1	C	T	10: 76,547,191 (GRCm39)	V725I	unknown	Het
Cp	T	C	3: 20,011,599 (GRCm39)		probably null	Het
Cul2	T	C	18: 3,430,957 (GRCm39)	V577A	probably benign	Het
Cux2	A	T	5: 121,998,716 (GRCm39)	I1408K	probably benign	Het
Cyp2c69	T	A	19: 39,869,630 (GRCm39)	T130S	possibly damaging	Het
Cyp3a57	A	G	5: 145,311,074 (GRCm39)	T278A	probably benign	Het
Dchs1	T	G	7: 105,403,972 (GRCm39)	T2857P	probably damaging	Het
Dchs1	A	G	7: 105,408,180 (GRCm39)	M1884T	probably benign	Het
Dnah3	T	C	7: 119,608,554 (GRCm39)	S1802G	probably damaging	Het
Dner	T	C	1: 84,361,537 (GRCm39)	S691G	probably damaging	Het
Dzip1l	A	T	9: 99,529,267 (GRCm39)	Q332L	probably damaging	Het
Eprs1	A	G	1: 185,133,804 (GRCm39)	Y827C	probably damaging	Het
Ermp1	A	T	19: 29,594,051 (GRCm39)	N706K	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,423 (GRCm39)	L317S	probably damaging	Het
Fam120c	G	T	X: 150,219,179 (GRCm39)	G696W	probably damaging	Het
Fance	T	A	17: 28,536,125 (GRCm39)		probably null	Het
Fancl	G	T	11: 26,418,423 (GRCm39)		probably null	Het
Fbxo30	T	A	10: 11,165,293 (GRCm39)	V5E	probably benign	Het
Foxn4	A	T	5: 114,394,886 (GRCm39)	I347N	possibly damaging	Het
Galr2	A	T	11: 116,172,325 (GRCm39)	D5V	probably benign	Het
Gm4845	T	G	1: 141,184,865 (GRCm39)		noncoding transcript	Het
Gnao1	A	T	8: 94,693,532 (GRCm39)	Q73L	probably damaging	Het
Gnpat	T	A	8: 125,605,241 (GRCm39)		probably null	Het
H2-T5	C	T	17: 36,472,649 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,791,356 (GRCm39)	M2594T	probably damaging	Het
Hint3	T	C	10: 30,486,428 (GRCm39)	H117R	probably damaging	Het
Hsd3b6	A	G	3: 98,713,541 (GRCm39)	F253L	probably damaging	Het
Itgal	A	G	7: 126,904,466 (GRCm39)	D313G	possibly damaging	Het
Kbtbd2	A	T	6: 56,755,893 (GRCm39)	D614E	probably damaging	Het
Ksr2	A	T	5: 117,894,335 (GRCm39)	I825F	probably damaging	Het
L3mbtl4	A	T	17: 69,071,635 (GRCm39)	S521C	probably benign	Het
Lamc1	T	C	1: 153,123,015 (GRCm39)	N725S	probably damaging	Het
Med1	T	G	11: 98,049,248 (GRCm39)	E516A	possibly damaging	Het
Mical3	A	T	6: 120,935,660 (GRCm39)	V1622E	probably benign	Het
Miip	G	A	4: 147,945,518 (GRCm39)	P373S	probably damaging	Het
Myo7a	C	A	7: 97,722,400 (GRCm39)	S1175I	probably damaging	Het
Ndst3	A	T	3: 123,340,474 (GRCm39)	D781E	probably benign	Het
Nf1	T	A	11: 79,359,583 (GRCm39)	V1407E	probably damaging	Het
Opalin	A	G	19: 41,056,196 (GRCm39)	L33P	probably damaging	Het
Or2f2	A	T	6: 42,767,458 (GRCm39)	I162F	probably benign	Het
Or2n1b	G	C	17: 38,460,296 (GRCm39)	K272N	probably damaging	Het
Or4c111	T	C	2: 88,843,488 (GRCm39)	I307V	probably benign	Het
Or8b12i	G	T	9: 20,082,410 (GRCm39)	S152R	probably damaging	Het
Or8k28	T	C	2: 86,285,859 (GRCm39)	Y252C	probably damaging	Het
Or8s10	A	T	15: 98,335,560 (GRCm39)	D70V	probably damaging	Het
Pcdhb2	T	A	18: 37,429,168 (GRCm39)	N23K	probably damaging	Het
Pdap1	A	G	5: 145,073,691 (GRCm39)		probably benign	Het
Pds5b	A	G	5: 150,670,197 (GRCm39)	E395G	probably damaging	Het
Pex1	C	A	5: 3,668,880 (GRCm39)	R624S	probably benign	Het
Pitrm1	G	A	13: 6,608,261 (GRCm39)	V329I	probably benign	Het
Pop1	G	A	15: 34,515,970 (GRCm39)		probably benign	Het
Prkaa1	A	G	15: 5,190,082 (GRCm39)		probably null	Het
Slc5a9	T	A	4: 111,750,384 (GRCm39)	Y158F	probably damaging	Het
Spata3	T	A	1: 85,954,175 (GRCm39)	V114E	probably damaging	Het
Tbcb	T	A	7: 29,931,019 (GRCm39)	I34F	possibly damaging	Het
Tek	T	A	4: 94,751,903 (GRCm39)	Y1014*	probably null	Het
Togaram1	G	T	12: 65,014,681 (GRCm39)	C644F	probably damaging	Het
Trim56	A	C	5: 137,142,918 (GRCm39)	D199E	possibly damaging	Het
Tssk3	A	T	4: 129,383,110 (GRCm39)	D187E	probably benign	Het
Ttn	G	A	2: 76,727,147 (GRCm39)		probably benign	Het
Twf2	G	A	9: 106,090,025 (GRCm39)	R126Q	probably benign	Het
Ugt1a10	T	C	1: 87,983,838 (GRCm39)	M212T	probably benign	Het
Vmn1r177	A	T	7: 23,565,772 (GRCm39)	F35I	possibly damaging	Het
Vmn1r44	T	A	6: 89,870,915 (GRCm39)	H77Q	possibly damaging	Het
Zfp1004	T	A	2: 150,034,143 (GRCm39)	Y186N	probably damaging	Het
Zfp524	G	A	7: 5,021,347 (GRCm39)	V292I	probably benign	Het
Zfp788	T	G	7: 41,297,018 (GRCm39)	I56S	probably benign	Het

Other mutations in Slc38a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Slc38a6	APN	12	73,398,577 (GRCm39)	missense	probably benign	0.00
IGL01083:Slc38a6	APN	12	73,335,267 (GRCm39)	missense	possibly damaging	0.94
IGL01302:Slc38a6	APN	12	73,335,299 (GRCm39)	critical splice donor site	probably null
IGL02106:Slc38a6	APN	12	73,397,320 (GRCm39)	missense	possibly damaging	0.84
IGL02429:Slc38a6	APN	12	73,397,342 (GRCm39)	missense	probably benign	0.18
IGL02815:Slc38a6	APN	12	73,338,979 (GRCm39)	missense	probably damaging	1.00
IGL03001:Slc38a6	APN	12	73,383,827 (GRCm39)	missense	probably benign	0.03
IGL03167:Slc38a6	APN	12	73,397,311 (GRCm39)	nonsense	probably null
R0394:Slc38a6	UTSW	12	73,399,304 (GRCm39)	missense	probably benign
R0918:Slc38a6	UTSW	12	73,391,559 (GRCm39)	splice site	probably null
R1377:Slc38a6	UTSW	12	73,397,345 (GRCm39)	missense	probably damaging	0.98
R1533:Slc38a6	UTSW	12	73,391,626 (GRCm39)	missense	probably benign	0.11
R4171:Slc38a6	UTSW	12	73,397,326 (GRCm39)	missense	probably benign	0.21
R4864:Slc38a6	UTSW	12	73,390,424 (GRCm39)	splice site	probably null
R5162:Slc38a6	UTSW	12	73,376,759 (GRCm39)	missense	possibly damaging	0.70
R5627:Slc38a6	UTSW	12	73,390,457 (GRCm39)	missense	possibly damaging	0.59
R6189:Slc38a6	UTSW	12	73,356,970 (GRCm39)	missense	probably damaging	1.00
R6302:Slc38a6	UTSW	12	73,383,849 (GRCm39)	missense	probably damaging	1.00
R6407:Slc38a6	UTSW	12	73,356,949 (GRCm39)	missense	probably damaging	1.00
R7289:Slc38a6	UTSW	12	73,333,786 (GRCm39)	missense	probably benign
R7462:Slc38a6	UTSW	12	73,397,351 (GRCm39)	missense	probably benign	0.15
R8031:Slc38a6	UTSW	12	73,397,377 (GRCm39)	missense	probably benign	0.39
R8074:Slc38a6	UTSW	12	73,391,658 (GRCm39)	missense	possibly damaging	0.84
R9091:Slc38a6	UTSW	12	73,398,544 (GRCm39)	missense	probably benign	0.01
R9190:Slc38a6	UTSW	12	73,388,526 (GRCm39)	missense	possibly damaging	0.84
R9270:Slc38a6	UTSW	12	73,398,544 (GRCm39)	missense	probably benign	0.01
R9406:Slc38a6	UTSW	12	73,376,767 (GRCm39)	nonsense	probably null
R9587:Slc38a6	UTSW	12	73,388,513 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ACGATTCCTCAAGTGTGTAGAATG -3'
(R):5'- AAGCCATGCATGACTGTAGGG -3'

Sequencing Primer
(F):5'- CCTCAAGTGTGTAGAATGGCTCAG -3'
(R):5'- CATGACTGTAGGGAGCATTCCTC -3'

Posted On

2015-09-24