Mutagenetix > Incidental Mutation

Incidental Mutation 'R7860:Slc38a9'

607452

Institutional Source

Beutler Lab

Gene Symbol

Slc38a9

Ensembl Gene

ENSMUSG00000047789

Gene Name

solute carrier family 38, member 9

Synonyms

9430067K09Rik, 9130023D20Rik, 4833412L08Rik, 6720411P22Rik

MMRRC Submission

045913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R7860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112797285-112875283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112868148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 545 (I545F)

Ref Sequence

ENSEMBL: ENSMUSP00000052172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052514]

AlphaFold

Q8BGD6

Predicted Effect

probably benign
Transcript: ENSMUST00000052514
AA Change: I545F

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

SMART Domains

Protein: ENSMUSP00000052172
Gene: ENSMUSG00000047789
AA Change: I545F

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	114	253	4.5e-17	PFAM
Pfam:Aa_trans	266	560	2.5e-16	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,905,707 (GRCm39)	T493A	probably damaging	Het
Aars1	A	G	8: 111,776,493 (GRCm39)	K650E	probably benign	Het
Abcb1b	C	T	5: 8,882,258 (GRCm39)	S793F	probably benign	Het
Adamts18	T	A	8: 114,501,908 (GRCm39)	I318F	probably damaging	Het
Adcy8	A	G	15: 64,571,322 (GRCm39)	I1137T	probably damaging	Het
Ambra1	T	A	2: 91,603,838 (GRCm39)	F607L	probably benign	Het
Ankrd46	A	T	15: 36,479,566 (GRCm39)	V175D	possibly damaging	Het
Arhgap28	C	A	17: 68,208,277 (GRCm39)	E114*	probably null	Het
Arrdc1	C	T	2: 24,816,158 (GRCm39)	G282S	probably damaging	Het
Atp1a3	A	T	7: 24,681,216 (GRCm39)	L790Q	probably damaging	Het
Bend5	T	A	4: 111,272,406 (GRCm39)	V12D	probably damaging	Het
Bod1l	C	T	5: 41,976,608 (GRCm39)	E1569K	probably damaging	Het
Cdc123	T	A	2: 5,808,775 (GRCm39)	I234L	probably benign	Het
Cep126	T	G	9: 8,120,749 (GRCm39)	E91D	probably damaging	Het
Cep89	T	A	7: 35,113,570 (GRCm39)	D199E	possibly damaging	Het
Ces1d	T	C	8: 93,897,765 (GRCm39)	T442A	probably benign	Het
Chsy3	C	T	18: 59,542,299 (GRCm39)	A479V	probably benign	Het
Clcn4	C	A	7: 7,296,060 (GRCm39)	G261C	probably damaging	Het
Clhc1	A	T	11: 29,507,651 (GRCm39)		probably null	Het
Cnot3	T	A	7: 3,658,565 (GRCm39)		probably null	Het
Col9a1	C	A	1: 24,276,261 (GRCm39)	P723H	probably damaging	Het
Crybg3	A	T	16: 59,375,605 (GRCm39)	M169K	probably benign	Het
Cxxc4	A	G	3: 133,963,814 (GRCm39)	R353G	probably benign	Het
Dennd3	A	T	15: 73,412,657 (GRCm39)	I440F	probably damaging	Het
Dnai3	A	G	3: 145,772,675 (GRCm39)	L457P	probably damaging	Het
Elmo3	G	T	8: 106,035,649 (GRCm39)	S553I	probably damaging	Het
Elovl2	A	G	13: 41,340,943 (GRCm39)	Y198H	probably benign	Het
Epm2aip1	A	G	9: 111,101,105 (GRCm39)	Y26C	probably damaging	Het
Ext1	A	C	15: 52,953,335 (GRCm39)	C510G	possibly damaging	Het
Extl3	A	T	14: 65,314,938 (GRCm39)	D81E	probably benign	Het
Fbxl5	T	A	5: 43,916,018 (GRCm39)	T465S	probably benign	Het
Fbxo31	G	A	8: 122,291,384 (GRCm39)		probably null	Het
Gabrr2	A	T	4: 33,081,470 (GRCm39)	K169*	probably null	Het
Haus4	A	G	14: 54,779,602 (GRCm39)	Y341H	probably damaging	Het
Itgae	A	T	11: 73,011,099 (GRCm39)		probably null	Het
Jmjd7	C	T	2: 119,860,996 (GRCm39)	H149Y	possibly damaging	Het
Kcnh2	C	T	5: 24,529,561 (GRCm39)	C725Y	probably damaging	Het
Mroh1	C	T	15: 76,331,532 (GRCm39)	P1252L	probably benign	Het
Ms4a14	A	G	19: 11,280,308 (GRCm39)	F750S	probably benign	Het
Naf1	T	A	8: 67,313,165 (GRCm39)	D49E	unknown	Het
Notch3	T	C	17: 32,341,747 (GRCm39)	T2002A	possibly damaging	Het
Or10q12	T	A	19: 13,745,716 (GRCm39)	D3E	probably benign	Het
Or14c44	A	G	7: 86,057,119 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,333 (GRCm39)	I206N	probably benign	Het
Or2d3c	A	T	7: 106,525,777 (GRCm39)	D296E	probably benign	Het
Or2l13b	A	T	16: 19,349,167 (GRCm39)	C168S	probably damaging	Het
Or7e175	A	T	9: 20,048,871 (GRCm39)	N153I	probably benign	Het
Or9s23	G	A	1: 92,501,810 (GRCm39)	D306N	probably benign	Het
Pck1	A	G	2: 172,997,743 (GRCm39)	T271A	possibly damaging	Het
Penk	A	G	4: 4,133,976 (GRCm39)	W224R	possibly damaging	Het
Per2	C	A	1: 91,372,481 (GRCm39)	V198F	probably damaging	Het
Phf11d	A	G	14: 59,599,280 (GRCm39)	M23T	probably damaging	Het
Pla2g4d	A	G	2: 120,097,211 (GRCm39)	V796A	probably benign	Het
Pramel51	A	T	12: 88,143,122 (GRCm39)	N360K	possibly damaging	Het
Prdx6	A	T	1: 161,069,428 (GRCm39)		probably null	Het
Prep	A	T	10: 44,967,108 (GRCm39)	N47I	probably damaging	Het
Prodh2	A	T	7: 30,212,064 (GRCm39)		probably null	Het
Prss38	G	T	11: 59,265,996 (GRCm39)	H96N	probably damaging	Het
Rab11a	C	A	9: 64,635,613 (GRCm39)	E47*	probably null	Het
Rad18	C	T	6: 112,626,798 (GRCm39)	G369D	probably benign	Het
Rragc	T	C	4: 123,823,717 (GRCm39)	V330A	probably damaging	Het
Serpina9	A	T	12: 103,967,680 (GRCm39)	H238Q	probably benign	Het
Serpinb3b	T	A	1: 107,085,467 (GRCm39)	K91N	probably damaging	Het
Slc16a12	T	G	19: 34,652,730 (GRCm39)	S139R	probably benign	Het
Slc22a27	T	A	19: 7,887,472 (GRCm39)		probably null	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Slc39a8	A	T	3: 135,590,157 (GRCm39)	H349L	probably damaging	Het
Slk	C	T	19: 47,630,510 (GRCm39)	T1227I	possibly damaging	Het
Spdye4b	A	G	5: 143,180,609 (GRCm39)	E25G	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
St3gal1	A	G	15: 66,983,114 (GRCm39)	V214A	probably benign	Het
St7l	T	A	3: 104,833,893 (GRCm39)	M550K	probably benign	Het
Tbk1	A	C	10: 121,388,151 (GRCm39)	F638C	possibly damaging	Het
Tex101	A	T	7: 24,369,190 (GRCm39)	C114S	probably damaging	Het
Ttll13	A	G	7: 79,905,135 (GRCm39)	M384V	probably benign	Het
Ugt2b37	A	T	5: 87,402,189 (GRCm39)	D147E	probably damaging	Het
Vmn1r10	A	T	6: 57,090,686 (GRCm39)	T93S	probably benign	Het
Wasl	G	A	6: 24,619,396 (GRCm39)	P375S	unknown	Het
Zfp236	C	A	18: 82,692,481 (GRCm39)	E165*	probably null	Het
Zfp839	A	T	12: 110,822,060 (GRCm39)	R291S	probably damaging	Het

Other mutations in Slc38a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Slc38a9	APN	13	112,838,152 (GRCm39)	missense	probably damaging	1.00
IGL01950:Slc38a9	APN	13	112,831,787 (GRCm39)	missense	probably damaging	1.00
IGL01955:Slc38a9	APN	13	112,831,952 (GRCm39)	splice site	probably benign
IGL02352:Slc38a9	APN	13	112,826,720 (GRCm39)	missense	probably benign	0.10
IGL02359:Slc38a9	APN	13	112,826,720 (GRCm39)	missense	probably benign	0.10
IGL02407:Slc38a9	APN	13	112,826,777 (GRCm39)	missense	probably benign
IGL02511:Slc38a9	APN	13	112,834,541 (GRCm39)	missense	possibly damaging	0.47
IGL02588:Slc38a9	APN	13	112,834,511 (GRCm39)	splice site	probably null
IGL03278:Slc38a9	APN	13	112,826,052 (GRCm39)	splice site	probably benign
R0126:Slc38a9	UTSW	13	112,865,791 (GRCm39)	missense	possibly damaging	0.52
R0553:Slc38a9	UTSW	13	112,850,732 (GRCm39)	missense	probably damaging	1.00
R0558:Slc38a9	UTSW	13	112,865,730 (GRCm39)	critical splice acceptor site	probably null
R0699:Slc38a9	UTSW	13	112,859,823 (GRCm39)	missense	probably damaging	1.00
R1036:Slc38a9	UTSW	13	112,838,193 (GRCm39)	splice site	probably benign
R1142:Slc38a9	UTSW	13	112,850,744 (GRCm39)	missense	probably damaging	1.00
R1344:Slc38a9	UTSW	13	112,826,714 (GRCm39)	missense	probably benign	0.20
R1418:Slc38a9	UTSW	13	112,826,714 (GRCm39)	missense	probably benign	0.20
R4223:Slc38a9	UTSW	13	112,850,782 (GRCm39)	critical splice donor site	probably null
R4344:Slc38a9	UTSW	13	112,865,749 (GRCm39)	missense	probably benign	0.02
R4824:Slc38a9	UTSW	13	112,859,832 (GRCm39)	missense	probably damaging	0.98
R4872:Slc38a9	UTSW	13	112,826,098 (GRCm39)	missense	probably damaging	1.00
R5841:Slc38a9	UTSW	13	112,831,856 (GRCm39)	missense	possibly damaging	0.76
R5844:Slc38a9	UTSW	13	112,868,035 (GRCm39)	missense	probably damaging	1.00
R6039:Slc38a9	UTSW	13	112,806,231 (GRCm39)	missense	probably damaging	1.00
R6039:Slc38a9	UTSW	13	112,806,231 (GRCm39)	missense	probably damaging	1.00
R6151:Slc38a9	UTSW	13	112,825,910 (GRCm39)	missense	probably damaging	1.00
R6166:Slc38a9	UTSW	13	112,831,801 (GRCm39)	missense	possibly damaging	0.96
R6175:Slc38a9	UTSW	13	112,840,093 (GRCm39)	nonsense	probably null
R6324:Slc38a9	UTSW	13	112,862,634 (GRCm39)	missense	probably benign	0.01
R6747:Slc38a9	UTSW	13	112,826,714 (GRCm39)	missense	probably benign	0.20
R6920:Slc38a9	UTSW	13	112,838,060 (GRCm39)	missense	possibly damaging	0.63
R7342:Slc38a9	UTSW	13	112,806,125 (GRCm39)	start gained	probably benign
R7592:Slc38a9	UTSW	13	112,831,889 (GRCm39)	missense	probably damaging	0.99
R7787:Slc38a9	UTSW	13	112,825,880 (GRCm39)	missense	probably damaging	0.99
R8742:Slc38a9	UTSW	13	112,865,818 (GRCm39)	missense	probably damaging	1.00
R8799:Slc38a9	UTSW	13	112,840,136 (GRCm39)	missense	probably damaging	1.00
R8824:Slc38a9	UTSW	13	112,838,021 (GRCm39)	missense	probably benign
R8846:Slc38a9	UTSW	13	112,859,814 (GRCm39)	nonsense	probably null
R9112:Slc38a9	UTSW	13	112,850,777 (GRCm39)	missense	probably damaging	0.99
R9221:Slc38a9	UTSW	13	112,825,910 (GRCm39)	missense	probably damaging	1.00
R9780:Slc38a9	UTSW	13	112,862,591 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTCTCAGGTGCTTCTAAGATTTAAG -3'
(R):5'- GAGACCATCATTTCCCTCGC -3'

Sequencing Primer
(F):5'- AAACTCTTTAGCATGCAAGGAAG -3'
(R):5'- CCCTCGCTTTCAATTATCTTAGAAG -3'

Posted On

2019-12-20