Mutagenetix > Incidental Mutation

Incidental Mutation 'R4036:Slc16a9'

313719

Institutional Source

Beutler Lab

Gene Symbol

Slc16a9

Ensembl Gene

ENSMUSG00000037762

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 9

Synonyms

4930425B13Rik, 1200003C15Rik

MMRRC Submission

040963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4036 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70081106-70121781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70110786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 124 (T124M)

Ref Sequence

ENSEMBL: ENSMUSP00000047912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046807]

AlphaFold

Q7TM99

Predicted Effect

probably damaging
Transcript: ENSMUST00000046807
AA Change: T124M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047912
Gene: ENSMUSG00000037762
AA Change: T124M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	15	319	6.5e-17	PFAM
Pfam:MFS_1	303	500	1.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155933

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544M13Rik	T	C	13: 114,744,205 (GRCm39)		noncoding transcript	Het
Ahctf1	T	C	1: 179,590,181 (GRCm39)	Q1364R	possibly damaging	Het
Anxa2	A	G	9: 69,395,352 (GRCm39)	N265S	probably damaging	Het
Bcan	A	G	3: 87,903,423 (GRCm39)		probably null	Het
Cntln	A	G	4: 84,924,725 (GRCm39)	Y610C	probably damaging	Het
Cyp39a1	C	A	17: 43,987,831 (GRCm39)	A99E	probably damaging	Het
Drc1	A	G	5: 30,504,526 (GRCm39)	I223V	probably benign	Het
Eef2kmt	A	T	16: 5,063,135 (GRCm39)	V335D	probably damaging	Het
Fanci	T	C	7: 79,094,570 (GRCm39)	L1167P	probably damaging	Het
Glb1l3	A	C	9: 26,740,343 (GRCm39)	M329R	probably damaging	Het
Gns	C	A	10: 121,207,095 (GRCm39)	T72N	probably damaging	Het
Hspa2	T	C	12: 76,452,542 (GRCm39)	V412A	probably damaging	Het
Klk1b8	A	G	7: 43,447,511 (GRCm39)	I9V	probably null	Het
Map4	A	G	9: 109,861,283 (GRCm39)	T216A	possibly damaging	Het
Metrn	T	C	17: 26,013,984 (GRCm39)	T281A	probably benign	Het
Mid1-ps1	G	A	Y: 90,773,563 (GRCm39)		noncoding transcript	Het
Ndc1	G	A	4: 107,268,269 (GRCm39)	D602N	probably benign	Het
Nsd1	A	G	13: 55,361,524 (GRCm39)	D164G	possibly damaging	Het
Or5ac22	T	A	16: 59,135,113 (GRCm39)	H219L	probably benign	Het
Pcdha8	T	C	18: 37,125,914 (GRCm39)	M132T	probably benign	Het
Pomt2	A	G	12: 87,158,296 (GRCm39)		probably null	Het
Prrt3	AGGGGG	AGGGG	6: 113,474,641 (GRCm39)		probably null	Het
Rfx6	T	A	10: 51,602,842 (GRCm39)	H786Q	probably damaging	Het
Scn4a	A	C	11: 106,212,883 (GRCm39)	L1374R	possibly damaging	Het
Slc46a2	A	T	4: 59,913,818 (GRCm39)	F368L	probably damaging	Het
St18	T	A	1: 6,898,010 (GRCm39)	I604K	probably damaging	Het
Ttn	A	G	2: 76,548,497 (GRCm39)	V31935A	possibly damaging	Het
Urb1	T	C	16: 90,584,974 (GRCm39)	H549R	probably benign	Het
Vmn1r219	A	G	13: 23,347,272 (GRCm39)	M154V	probably benign	Het
Zfp575	G	A	7: 24,285,440 (GRCm39)	S67L	possibly damaging	Het

Other mutations in Slc16a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Slc16a9	APN	10	70,118,529 (GRCm39)	missense	probably benign	0.04
IGL01725:Slc16a9	APN	10	70,119,815 (GRCm39)	missense	probably benign
IGL02963:Slc16a9	APN	10	70,102,966 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Slc16a9	UTSW	10	70,119,762 (GRCm39)	nonsense	probably null
R1301:Slc16a9	UTSW	10	70,118,308 (GRCm39)	missense	probably benign	0.07
R2436:Slc16a9	UTSW	10	70,091,911 (GRCm39)	frame shift	probably null
R4591:Slc16a9	UTSW	10	70,118,710 (GRCm39)	missense	probably damaging	1.00
R5377:Slc16a9	UTSW	10	70,118,958 (GRCm39)	missense	probably damaging	1.00
R5868:Slc16a9	UTSW	10	70,118,320 (GRCm39)	missense	probably benign	0.01
R7313:Slc16a9	UTSW	10	70,119,000 (GRCm39)	missense	probably damaging	1.00
R9044:Slc16a9	UTSW	10	70,110,797 (GRCm39)	missense	probably benign	0.06
R9789:Slc16a9	UTSW	10	70,118,340 (GRCm39)	missense	possibly damaging	0.93
Z1176:Slc16a9	UTSW	10	70,119,856 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- ACAATATTGACGTGGCGGTG -3'
(R):5'- CTGAAAGCCATTCCTATAGTTACAG -3'

Sequencing Primer
(F):5'- ACGTGGCGGTGTCTCAG -3'
(R):5'- AAAACTTTCCTTCTAGAAGCACTG -3'

Posted On

2015-04-30