Mutagenetix > Incidental Mutation

Incidental Mutation 'R0684:Slc38a2'

61089

Institutional Source

Beutler Lab

Gene Symbol

Slc38a2

Ensembl Gene

ENSMUSG00000022462

Gene Name

solute carrier family 38, member 2

Synonyms

SNAT2, 5033402L14Rik

MMRRC Submission

038869-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R0684 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

96585273-96597611 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 96593168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 137 (L137*)

Ref Sequence

ENSEMBL: ENSMUSP00000023099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023099]

AlphaFold

Q8CFE6

Predicted Effect

probably null
Transcript: ENSMUST00000023099
AA Change: L137*

SMART Domains

Protein: ENSMUSP00000023099
Gene: ENSMUSG00000022462
AA Change: L137*

Domain	Start	End	E-Value	Type
low complexity region	10	30	N/A	INTRINSIC
Pfam:Aa_trans	69	492	2e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229141

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.1%
20x: 88.8%

Validation Efficiency

100% (69/69)

Allele List at MGI

All alleles(18) : Targeted(2) Gene trapped(16)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,466,428 (GRCm39)	L731H	probably damaging	Het
Adora2b	C	T	11: 62,139,995 (GRCm39)	A23V	probably benign	Het
Ankrd17	T	C	5: 90,411,857 (GRCm39)	I1336V	probably damaging	Het
Asxl1	G	A	2: 153,239,442 (GRCm39)	R410H	probably damaging	Het
Atp8a2	T	C	14: 60,260,593 (GRCm39)	E419G	probably benign	Het
Atxn1l	A	T	8: 110,459,016 (GRCm39)	N415K	probably damaging	Het
Bcl2l12	T	A	7: 44,646,025 (GRCm39)	T65S	probably benign	Het
Bdh2	A	G	3: 134,996,774 (GRCm39)	I90V	probably benign	Het
Bsph1	T	A	7: 13,206,988 (GRCm39)	N121K	probably damaging	Het
Cd96	T	C	16: 45,938,153 (GRCm39)	Y104C	possibly damaging	Het
Chdh	T	C	14: 29,753,570 (GRCm39)	W160R	probably damaging	Het
Clock	A	G	5: 76,393,365 (GRCm39)	F193L	probably damaging	Het
Copz1	A	G	15: 103,204,958 (GRCm39)		probably null	Het
Cyp2c38	T	C	19: 39,379,500 (GRCm39)	T450A	probably damaging	Het
Cyp2d34	A	T	15: 82,501,751 (GRCm39)	I253K	probably benign	Het
Dhrs13	G	T	11: 77,927,789 (GRCm39)	A212S	probably damaging	Het
Ecsit	T	C	9: 21,987,796 (GRCm39)	N81S	probably benign	Het
Efl1	A	G	7: 82,301,094 (GRCm39)	T33A	probably damaging	Het
Emid1	T	C	11: 5,093,866 (GRCm39)	R92G	probably damaging	Het
Ermp1	A	G	19: 29,609,941 (GRCm39)		probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,432,893 (GRCm39)		probably null	Het
Hsd17b3	T	C	13: 64,236,882 (GRCm39)	M21V	probably benign	Het
Kat6b	T	C	14: 21,718,849 (GRCm39)	V1176A	probably benign	Het
Midn	A	G	10: 79,992,336 (GRCm39)	K463E	probably damaging	Het
Mier1	A	G	4: 102,996,631 (GRCm39)	E103G	probably damaging	Het
Muc15	A	G	2: 110,564,160 (GRCm39)	N232S	possibly damaging	Het
Ncoa2	T	A	1: 13,294,875 (GRCm39)	E15V	probably damaging	Het
Or10a5	A	T	7: 106,635,889 (GRCm39)	N176Y	probably damaging	Het
Or2n1d	A	G	17: 38,646,735 (GRCm39)	K229R	probably benign	Het
Or52n2b	T	A	7: 104,565,841 (GRCm39)	T221S	probably benign	Het
Pate14	C	T	9: 36,549,176 (GRCm39)	G28E	probably benign	Het
Pigf	A	T	17: 87,327,923 (GRCm39)	F115I	probably benign	Het
Prpsap1	A	T	11: 116,362,317 (GRCm39)	V355E	probably damaging	Het
Ptprk	G	T	10: 28,359,294 (GRCm39)		probably benign	Het
Rae1	G	A	2: 172,846,957 (GRCm39)	R67H	probably damaging	Het
Sema3a	G	A	5: 13,606,494 (GRCm39)		probably null	Het
Slc22a22	T	C	15: 57,126,758 (GRCm39)	T104A	probably benign	Het
Smgc	A	G	15: 91,725,670 (GRCm39)		probably benign	Het
Syce3	A	G	15: 89,274,648 (GRCm39)		probably benign	Het
Syt9	T	A	7: 107,024,343 (GRCm39)	W79R	probably damaging	Het
Tgoln1	A	C	6: 72,592,974 (GRCm39)	S169A	probably benign	Het
Thnsl1	A	G	2: 21,216,477 (GRCm39)	D77G	probably benign	Het
Tsr1	T	A	11: 74,798,767 (GRCm39)	V712E	probably damaging	Het
Wdr12	C	T	1: 60,128,525 (GRCm39)		probably benign	Het
Xdh	T	A	17: 74,250,886 (GRCm39)	N22I	probably damaging	Het
Zfp3	T	A	11: 70,662,395 (GRCm39)	L118Q	probably benign	Het
Zfp592	A	G	7: 80,687,623 (GRCm39)	N883D	probably benign	Het
Zfp609	T	A	9: 65,638,483 (GRCm39)	M250L	probably benign	Het
Zfp94	A	T	7: 24,002,495 (GRCm39)	S316T	probably damaging	Het
Zfp955b	A	G	17: 33,521,947 (GRCm39)	N472S	probably benign	Het

Other mutations in Slc38a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01116:Slc38a2	APN	15	96,591,066 (GRCm39)	splice site	probably benign
IGL01522:Slc38a2	APN	15	96,590,936 (GRCm39)	missense	possibly damaging	0.78
IGL01679:Slc38a2	APN	15	96,595,835 (GRCm39)	nonsense	probably null
IGL01720:Slc38a2	APN	15	96,589,092 (GRCm39)	splice site	probably benign
IGL02198:Slc38a2	APN	15	96,590,258 (GRCm39)	missense	probably damaging	0.99
IGL02685:Slc38a2	APN	15	96,589,306 (GRCm39)	missense	probably benign	0.00
IGL03211:Slc38a2	APN	15	96,596,153 (GRCm39)	splice site	probably null
P0014:Slc38a2	UTSW	15	96,588,042 (GRCm39)	missense	probably damaging	0.96
R0068:Slc38a2	UTSW	15	96,589,173 (GRCm39)	splice site	probably null
R0068:Slc38a2	UTSW	15	96,589,173 (GRCm39)	splice site	probably null
R1537:Slc38a2	UTSW	15	96,591,034 (GRCm39)	missense	possibly damaging	0.50
R1638:Slc38a2	UTSW	15	96,590,417 (GRCm39)	missense	probably damaging	1.00
R1922:Slc38a2	UTSW	15	96,589,043 (GRCm39)	missense	possibly damaging	0.95
R2294:Slc38a2	UTSW	15	96,589,643 (GRCm39)	missense	probably benign
R4672:Slc38a2	UTSW	15	96,596,518 (GRCm39)	missense	probably benign	0.00
R5799:Slc38a2	UTSW	15	96,592,970 (GRCm39)	missense	probably benign	0.29
R5878:Slc38a2	UTSW	15	96,590,465 (GRCm39)	missense	probably damaging	0.96
R6188:Slc38a2	UTSW	15	96,590,397 (GRCm39)	critical splice donor site	probably null
R7097:Slc38a2	UTSW	15	96,591,182 (GRCm39)	missense	probably damaging	0.98
R7122:Slc38a2	UTSW	15	96,591,182 (GRCm39)	missense	probably damaging	0.98
R7130:Slc38a2	UTSW	15	96,589,263 (GRCm39)	missense	probably damaging	1.00
R7224:Slc38a2	UTSW	15	96,589,240 (GRCm39)	missense	probably damaging	1.00
R7776:Slc38a2	UTSW	15	96,588,033 (GRCm39)	missense	probably benign	0.04
R7896:Slc38a2	UTSW	15	96,591,466 (GRCm39)	missense	probably damaging	1.00
R7964:Slc38a2	UTSW	15	96,590,453 (GRCm39)	missense	probably benign	0.29
R8427:Slc38a2	UTSW	15	96,590,294 (GRCm39)	missense	probably damaging	0.98
R8487:Slc38a2	UTSW	15	96,593,172 (GRCm39)	nonsense	probably null
R8845:Slc38a2	UTSW	15	96,592,900 (GRCm39)	missense	probably benign	0.00
R9400:Slc38a2	UTSW	15	96,591,053 (GRCm39)	missense	probably benign	0.14
R9606:Slc38a2	UTSW	15	96,591,172 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCTAGTCCGAGCTAAGAGCAGG -3'
(R):5'- TCCTCAAGACTGCCAACGAAGGAG -3'

Sequencing Primer
(F):5'- TGTCATAAGTATTCTCCACGGG -3'
(R):5'- CGAAGGAGGTACAGTAGCTTTCTG -3'

Posted On

2013-07-30