Mutagenetix > Incidental Mutation

Incidental Mutation 'R4916:Slc38a3'

380080

Institutional Source

Beutler Lab

Gene Symbol

Slc38a3

Ensembl Gene

ENSMUSG00000010064

Gene Name

solute carrier family 38, member 3

Synonyms

0610012J02Rik, D9Ucla2, Snat3

MMRRC Submission

042518-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.752) question?

Stock #

R4916 (G1)

Quality Score

195

Status

Not validated

Chromosome

Chromosomal Location

107528353-107546167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107533426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 244 (N244S)

Ref Sequence

ENSEMBL: ENSMUSP00000142087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010208] [ENSMUST00000167868] [ENSMUST00000177567] [ENSMUST00000192323] [ENSMUST00000192990] [ENSMUST00000193932] [ENSMUST00000195843]

AlphaFold

Q9DCP2

Predicted Effect

probably benign
Transcript: ENSMUST00000010208
AA Change: N244S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010208
Gene: ENSMUSG00000010064
AA Change: N244S

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	63	492	1.8e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167868
AA Change: N244S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130414
Gene: ENSMUSG00000010064
AA Change: N244S

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	63	492	1.8e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177567
AA Change: N244S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137561
Gene: ENSMUSG00000010064
AA Change: N244S

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	63	492	5.5e-110	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191923

Predicted Effect

unknown
Transcript: ENSMUST00000192211
AA Change: N1S

Predicted Effect

probably benign
Transcript: ENSMUST00000192323

SMART Domains

Protein: ENSMUSP00000141850
Gene: ENSMUSG00000010064

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	63	181	2.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192990

SMART Domains

Protein: ENSMUSP00000141528
Gene: ENSMUSG00000010064

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	63	154	1.7e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193932
AA Change: N244S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142087
Gene: ENSMUSG00000010064
AA Change: N244S

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	63	492	1.8e-109	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000195739
AA Change: N50S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193495

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194895

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195033

Predicted Effect

probably benign
Transcript: ENSMUST00000195843

SMART Domains

Protein: ENSMUSP00000141552
Gene: ENSMUSG00000010064

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	63	99	6.4e-9	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU allele exhibit complete postnatal lethality between P18 and P20, altered amino acid levels in the serum, liver and brain, and decreased ammonia excretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	G	A	12: 111,141,369 (GRCm39)	Q19*	probably null	Het
6030468B19Rik	T	A	11: 117,697,092 (GRCm39)	C230*	probably null	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Adnp	T	A	2: 168,029,537 (GRCm39)	T51S	possibly damaging	Het
Agap3	C	A	5: 24,683,011 (GRCm39)	A464D	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Ahi1	A	G	10: 20,860,303 (GRCm39)	R675G	probably damaging	Het
Amigo1	T	A	3: 108,094,981 (GRCm39)	L160Q	probably damaging	Het
Ankrd35	T	C	3: 96,591,438 (GRCm39)	S575P	probably benign	Het
Ano3	T	A	2: 110,601,365 (GRCm39)	T298S	possibly damaging	Het
Ap2b1	T	G	11: 83,281,532 (GRCm39)	F813V	probably damaging	Het
Aplnr	T	G	2: 84,967,261 (GRCm39)	F95L	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Ascc1	A	G	10: 59,840,684 (GRCm39)	N15S	probably benign	Het
AY358078	T	A	14: 52,040,108 (GRCm39)	Y73N	unknown	Het
B3gnt8	C	A	7: 25,328,308 (GRCm39)	P246Q	probably damaging	Het
C2cd2l	T	C	9: 44,227,857 (GRCm39)	Q250R	probably damaging	Het
Camk2d	T	C	3: 126,577,624 (GRCm39)	Y180H	probably damaging	Het
Ccdc170	A	G	10: 4,468,971 (GRCm39)	E167G	probably damaging	Het
Cdcp3	T	A	7: 130,776,206 (GRCm39)		probably null	Het
Cdyl2	A	G	8: 117,305,926 (GRCm39)	M445T	probably damaging	Het
Clca3a1	T	C	3: 144,721,605 (GRCm39)	D322G	probably benign	Het
Cnot10	C	T	9: 114,458,202 (GRCm39)	M101I	possibly damaging	Het
Cntrl	C	T	2: 35,055,694 (GRCm39)	T1196M	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcaf6	T	C	1: 165,247,774 (GRCm39)	D153G	probably damaging	Het
Dennd2c	G	A	3: 103,039,140 (GRCm39)	G96E	probably benign	Het
Dhrs9	T	C	2: 69,231,752 (GRCm39)	F304S	probably damaging	Het
Dmxl1	T	C	18: 50,010,764 (GRCm39)	S974P	probably damaging	Het
Dnah6	T	C	6: 73,169,659 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,634,168 (GRCm39)	L1049P	probably damaging	Het
Dnajc2	T	C	5: 21,962,338 (GRCm39)	K621E	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erap1	A	G	13: 74,794,647 (GRCm39)	E102G	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxl20	T	C	11: 98,019,186 (GRCm39)	D22G	probably damaging	Het
Fgfr1	T	C	8: 26,053,542 (GRCm39)		probably null	Het
Frzb	A	T	2: 80,276,871 (GRCm39)	I105N	probably damaging	Het
Gabrb1	T	A	5: 72,026,764 (GRCm39)	F55Y	probably damaging	Het
Gatd1	G	T	7: 140,989,010 (GRCm39)	C216*	probably null	Het
Gnl2	A	C	4: 124,937,485 (GRCm39)	N255T	probably damaging	Het
Golgb1	A	T	16: 36,736,480 (GRCm39)	Q1909L	probably benign	Het
Gpnmb	T	C	6: 49,028,904 (GRCm39)	L474P	probably damaging	Het
H60b	T	C	10: 22,163,115 (GRCm39)	V230A	possibly damaging	Het
Hmcn2	T	A	2: 31,250,992 (GRCm39)	V818D	probably damaging	Het
Irag2	C	A	6: 145,111,027 (GRCm39)	S277R	probably damaging	Het
Itprid1	C	T	6: 55,955,175 (GRCm39)	P928S	possibly damaging	Het
Jade2	G	T	11: 51,707,909 (GRCm39)	T768K	probably benign	Het
Kif28	T	C	1: 179,530,085 (GRCm39)	H692R	probably benign	Het
Kmt2b	T	C	7: 30,277,942 (GRCm39)	N1634S	probably damaging	Het
Knop1	A	G	7: 118,445,299 (GRCm39)	W222R	probably damaging	Het
Map1b	T	C	13: 99,569,808 (GRCm39)	D971G	unknown	Het
Mapk7	G	T	11: 61,384,475 (GRCm39)	T77K	probably damaging	Het
Mcm6	A	G	1: 128,276,714 (GRCm39)	L292P	probably damaging	Het
Megf8	T	C	7: 25,039,089 (GRCm39)	L900P	probably benign	Het
Meis1	G	A	11: 18,831,776 (GRCm39)	H421Y	possibly damaging	Het
Minar2	A	T	18: 59,205,277 (GRCm39)	I22F	probably damaging	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mta1	T	A	12: 113,100,160 (GRCm39)	S657T	probably benign	Het
Mtus1	C	A	8: 41,453,838 (GRCm39)	K998N	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Ndufb7	T	C	8: 84,297,534 (GRCm39)	L63P	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nos1	T	C	5: 118,085,635 (GRCm39)		probably null	Het
Nrp1	C	A	8: 129,229,285 (GRCm39)	S921*	probably null	Het
Oma1	T	C	4: 103,176,727 (GRCm39)		probably null	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Pcp2	T	A	8: 3,675,534 (GRCm39)		probably benign	Het
Pdk4	T	A	6: 5,489,157 (GRCm39)	H250L	possibly damaging	Het
Phldb3	A	G	7: 24,323,716 (GRCm39)	H449R	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Psmg2	A	G	18: 67,781,926 (GRCm39)	E164G	probably damaging	Het
Rb1	A	T	14: 73,454,131 (GRCm39)	L589H	probably damaging	Het
Rcvrn	A	T	11: 67,586,591 (GRCm39)	I117F	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Robo2	A	G	16: 73,695,803 (GRCm39)	S1447P	possibly damaging	Het
Scfd2	C	A	5: 74,623,319 (GRCm39)	G405W	probably damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Serpina3k	G	A	12: 104,309,269 (GRCm39)	V238M	probably damaging	Het
Slc1a6	G	A	10: 78,632,085 (GRCm39)	V304M	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc31a2	T	C	4: 62,215,325 (GRCm39)	V124A	probably damaging	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slc6a5	T	C	7: 49,598,004 (GRCm39)	F623L	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Slfn8	G	A	11: 82,907,704 (GRCm39)	H280Y	probably damaging	Het
Smpdl3a	A	T	10: 57,677,127 (GRCm39)	D45V	probably damaging	Het
Ssh3	T	C	19: 4,315,170 (GRCm39)	E342G	probably damaging	Het
Tacr1	A	T	6: 82,531,922 (GRCm39)	I273F	probably benign	Het
Tfg	T	A	16: 56,514,759 (GRCm39)		probably null	Het
Tmem179	A	G	12: 112,468,268 (GRCm39)	L71P	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Traj20	G	A	14: 54,436,924 (GRCm39)		probably benign	Het
Trappc13	A	T	13: 104,290,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tulp1	A	G	17: 28,578,109 (GRCm39)	L310P	probably damaging	Het
Ube3d	A	G	9: 86,304,925 (GRCm39)	Y306H	probably damaging	Het
Urb1	A	T	16: 90,580,216 (GRCm39)	V649E	probably damaging	Het
Vps13d	A	G	4: 144,709,963 (GRCm39)	L4211P	probably damaging	Het
Vwa5b1	T	A	4: 138,321,573 (GRCm39)	I407F	possibly damaging	Het
Vwce	G	T	19: 10,624,243 (GRCm39)	C378F	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Slc38a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Slc38a3	APN	9	107,535,876 (GRCm39)	missense	probably damaging	1.00
PIT4354001:Slc38a3	UTSW	9	107,534,848 (GRCm39)	missense	probably benign	0.01
R0522:Slc38a3	UTSW	9	107,532,412 (GRCm39)	splice site	probably null
R0865:Slc38a3	UTSW	9	107,532,847 (GRCm39)	missense	probably damaging	1.00
R0919:Slc38a3	UTSW	9	107,533,158 (GRCm39)	missense	probably damaging	1.00
R1265:Slc38a3	UTSW	9	107,529,185 (GRCm39)	missense	probably damaging	1.00
R1864:Slc38a3	UTSW	9	107,533,152 (GRCm39)	missense	probably damaging	1.00
R2919:Slc38a3	UTSW	9	107,534,886 (GRCm39)	missense	probably damaging	1.00
R4209:Slc38a3	UTSW	9	107,532,547 (GRCm39)	missense	possibly damaging	0.78
R4343:Slc38a3	UTSW	9	107,533,671 (GRCm39)	missense	possibly damaging	0.52
R4534:Slc38a3	UTSW	9	107,533,405 (GRCm39)	missense	probably benign	0.00
R4535:Slc38a3	UTSW	9	107,533,405 (GRCm39)	missense	probably benign	0.00
R4860:Slc38a3	UTSW	9	107,532,263 (GRCm39)	missense	probably damaging	1.00
R4860:Slc38a3	UTSW	9	107,532,263 (GRCm39)	missense	probably damaging	1.00
R5058:Slc38a3	UTSW	9	107,536,390 (GRCm39)	missense	possibly damaging	0.53
R5219:Slc38a3	UTSW	9	107,529,111 (GRCm39)	unclassified	probably benign
R5776:Slc38a3	UTSW	9	107,535,948 (GRCm39)	nonsense	probably null
R6029:Slc38a3	UTSW	9	107,529,374 (GRCm39)	missense	probably damaging	1.00
R6146:Slc38a3	UTSW	9	107,532,228 (GRCm39)	missense	probably benign
R6292:Slc38a3	UTSW	9	107,532,353 (GRCm39)	missense	possibly damaging	0.88
R7250:Slc38a3	UTSW	9	107,533,865 (GRCm39)	missense	probably benign	0.31
R8221:Slc38a3	UTSW	9	107,534,908 (GRCm39)	missense	probably damaging	0.99
R8409:Slc38a3	UTSW	9	107,536,454 (GRCm39)	splice site	probably benign
R8805:Slc38a3	UTSW	9	107,532,345 (GRCm39)	missense	probably benign	0.01
R8823:Slc38a3	UTSW	9	107,533,150 (GRCm39)	missense	probably damaging	1.00
R9486:Slc38a3	UTSW	9	107,536,322 (GRCm39)	missense	probably benign	0.02
R9624:Slc38a3	UTSW	9	107,532,510 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGACTATGTCAAGGCAGC -3'
(R):5'- TCAGAAAAGAGCAGTGGCCC -3'

Sequencing Primer
(F):5'- TATGTCAAGGCAGCCCCTC -3'
(R):5'- CGAGGGAGTCCTGTGTCAGAG -3'

Posted On

2016-04-15