Mutagenetix > Incidental Mutation

Incidental Mutation 'R6235:Slc38a1'

504904

Institutional Source

Beutler Lab

Gene Symbol

Slc38a1

Ensembl Gene

ENSMUSG00000023169

Gene Name

solute carrier family 38, member 1

Synonyms

SNAT1, NAT2

MMRRC Submission

044433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96469299-96540794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96476673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 396 (I396N)

Ref Sequence

ENSEMBL: ENSMUSP00000097833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088452] [ENSMUST00000088454] [ENSMUST00000100262]

AlphaFold

Q8K2P7

Predicted Effect

probably benign
Transcript: ENSMUST00000088452
AA Change: I396N

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085799
Gene: ENSMUSG00000023169
AA Change: I396N

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	69	473	6.1e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088454
AA Change: I396N

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085801
Gene: ENSMUSG00000023169
AA Change: I396N

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	69	473	5.8e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100262
AA Change: I396N

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097833
Gene: ENSMUSG00000023169
AA Change: I396N

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	69	473	5.8e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230756

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adam6b	T	C	12: 113,455,330 (GRCm39)	F716L	probably benign	Het
Akip1	A	G	7: 109,306,620 (GRCm39)	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,541,439 (GRCm39)	I278F	probably benign	Het
Aplnr	A	G	2: 84,967,970 (GRCm39)	T332A	probably benign	Het
Aqp4	A	G	18: 15,531,170 (GRCm39)	V197A	probably damaging	Het
Arid4a	A	T	12: 71,116,546 (GRCm39)		probably null	Het
Baiap2	A	T	11: 119,872,234 (GRCm39)	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,171,217 (GRCm39)		probably null	Het
Cep78	T	C	19: 15,953,850 (GRCm39)		probably null	Het
Cldn3	T	C	5: 135,015,573 (GRCm39)	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,512,499 (GRCm39)	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Copg2	A	G	6: 30,793,006 (GRCm39)	I443T	probably damaging	Het
Crhbp	C	A	13: 95,580,358 (GRCm39)	A81S	probably damaging	Het
Csad	A	T	15: 102,087,041 (GRCm39)	V410D	probably damaging	Het
Ctps1	G	A	4: 120,416,003 (GRCm39)	L207F	probably benign	Het
Dab2ip	A	G	2: 35,613,099 (GRCm39)	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,734,854 (GRCm39)	A5G	probably benign	Het
Dnah12	A	T	14: 26,576,761 (GRCm39)	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,999,029 (GRCm39)		probably benign	Het
Fbxw28	C	A	9: 109,155,258 (GRCm39)	W356C	probably damaging	Het
Gimap6	G	T	6: 48,679,391 (GRCm39)	T215K	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Hunk	A	G	16: 90,229,594 (GRCm39)	I152V	probably damaging	Het
Itk	T	C	11: 46,227,255 (GRCm39)	E456G	probably benign	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Lars2	T	C	9: 123,240,945 (GRCm39)	V204A	probably damaging	Het
Lipo3	A	G	19: 33,760,963 (GRCm39)	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,424,046 (GRCm39)	R809W	probably damaging	Het
Magi3	C	T	3: 103,923,384 (GRCm39)	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,205,182 (GRCm39)	V47E	probably damaging	Het
Mpdz	T	C	4: 81,303,518 (GRCm39)	E140G	probably damaging	Het
Myo1d	T	C	11: 80,583,770 (GRCm39)	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113 (GRCm38)	Y26*	probably null	Het
Ntng2	C	A	2: 29,117,991 (GRCm39)	E152D	probably damaging	Het
Or10w1	C	A	19: 13,632,145 (GRCm39)	C117*	probably null	Het
Or5m9b	T	C	2: 85,905,510 (GRCm39)	L142P	possibly damaging	Het
Otud3	A	T	4: 138,629,212 (GRCm39)	V185D	probably damaging	Het
Parp6	C	T	9: 59,538,098 (GRCm39)	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,849,483 (GRCm39)	T497A	probably benign	Het
Ppp1r18	A	G	17: 36,184,769 (GRCm39)	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,431,928 (GRCm39)	L151P	probably damaging	Het
Pth1r	C	T	9: 110,551,384 (GRCm39)	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,471,199 (GRCm39)	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,517 (GRCm39)	T480A	possibly damaging	Het
Rax	T	A	18: 66,068,232 (GRCm39)	Q291L	unknown	Het
Reck	T	C	4: 43,937,450 (GRCm39)	L734P	probably damaging	Het
Rgmb	A	G	17: 16,041,081 (GRCm39)	F169L	probably damaging	Het
Rhobtb3	T	C	13: 76,041,029 (GRCm39)	I426M	probably damaging	Het
Ring1	C	A	17: 34,242,280 (GRCm39)	A76S	probably damaging	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rpusd2	A	G	2: 118,865,338 (GRCm39)	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985 (GRCm39)	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Ryr1	G	T	7: 28,815,606 (GRCm39)	Q95K	probably benign	Het
S1pr4	T	A	10: 81,334,716 (GRCm39)	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,291,679 (GRCm39)	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,700,984 (GRCm39)	N147D	probably damaging	Het
Sdk1	A	T	5: 142,020,181 (GRCm39)	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,232,791 (GRCm39)	M232K	probably damaging	Het
Sipa1l2	A	T	8: 126,201,610 (GRCm39)	V646E	probably damaging	Het
Slc6a13	A	T	6: 121,279,753 (GRCm39)	E42D	probably benign	Het
Stard9	G	A	2: 120,544,027 (GRCm39)	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,452,071 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,177,104 (GRCm39)	I356V	probably benign	Het
Tcam1	C	T	11: 106,174,880 (GRCm39)	Q112*	probably null	Het
Tdp2	T	A	13: 25,024,378 (GRCm39)	L225*	probably null	Het
Tmprss7	A	G	16: 45,478,485 (GRCm39)	V747A	probably benign	Het
Ugt2b34	T	A	5: 87,054,223 (GRCm39)	Y186F	probably benign	Het
Usp37	G	T	1: 74,514,292 (GRCm39)	S293*	probably null	Het
Vmn1r36	A	G	6: 66,693,230 (GRCm39)	I109T	probably benign	Het
Vsig10l	T	A	7: 43,118,396 (GRCm39)	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,159,596 (GRCm39)	C18*	probably null	Het
Zfp959	T	C	17: 56,204,427 (GRCm39)	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,296,373 (GRCm39)	C1949S	probably damaging	Het
Zswim9	T	A	7: 12,995,529 (GRCm39)	E209V	probably damaging	Het

Other mutations in Slc38a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Slc38a1	APN	15	96,483,504 (GRCm39)	missense	possibly damaging	0.89
IGL01376:Slc38a1	APN	15	96,483,437 (GRCm39)	missense	probably damaging	1.00
IGL01920:Slc38a1	APN	15	96,484,778 (GRCm39)	missense	probably benign
IGL01993:Slc38a1	APN	15	96,521,927 (GRCm39)	missense	probably damaging	1.00
IGL02201:Slc38a1	APN	15	96,476,679 (GRCm39)	missense	probably damaging	1.00
IGL03074:Slc38a1	APN	15	96,490,405 (GRCm39)	missense	possibly damaging	0.72
IGL03370:Slc38a1	APN	15	96,477,228 (GRCm39)	missense	possibly damaging	0.93
R0918:Slc38a1	UTSW	15	96,507,743 (GRCm39)	missense	probably damaging	1.00
R1506:Slc38a1	UTSW	15	96,483,431 (GRCm39)	missense	probably benign	0.04
R1510:Slc38a1	UTSW	15	96,507,741 (GRCm39)	missense	probably damaging	1.00
R1713:Slc38a1	UTSW	15	96,476,641 (GRCm39)	missense	probably damaging	1.00
R1721:Slc38a1	UTSW	15	96,485,016 (GRCm39)	missense	probably damaging	1.00
R1867:Slc38a1	UTSW	15	96,485,016 (GRCm39)	missense	probably damaging	1.00
R4254:Slc38a1	UTSW	15	96,483,431 (GRCm39)	missense	probably benign	0.04
R4255:Slc38a1	UTSW	15	96,483,431 (GRCm39)	missense	probably benign	0.04
R4754:Slc38a1	UTSW	15	96,474,663 (GRCm39)	missense	probably damaging	0.98
R5548:Slc38a1	UTSW	15	96,488,355 (GRCm39)	missense	probably damaging	1.00
R5610:Slc38a1	UTSW	15	96,514,022 (GRCm39)	critical splice donor site	probably null
R6288:Slc38a1	UTSW	15	96,484,759 (GRCm39)	missense	probably benign	0.12
R7904:Slc38a1	UTSW	15	96,521,921 (GRCm39)	missense	possibly damaging	0.95
R8195:Slc38a1	UTSW	15	96,490,447 (GRCm39)	missense	probably benign	0.27
R8876:Slc38a1	UTSW	15	96,514,091 (GRCm39)	missense	possibly damaging	0.93
R9515:Slc38a1	UTSW	15	96,487,965 (GRCm39)	missense	probably damaging	1.00
R9555:Slc38a1	UTSW	15	96,486,860 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGCAGACGTGACTCCTGTAAATC -3'
(R):5'- ACTATTTCTTAAGGCTTGGGGC -3'

Sequencing Primer
(F):5'- TCAAGAAAACAGTTGTTCAGGGCC -3'
(R):5'- TAACTTCAGACTAGTAAGGGGTTGCC -3'

Posted On

2018-02-28