Mutagenetix > Incidental Mutation

Incidental Mutation 'R9661:Slc16a4'

727561

Institutional Source

Beutler Lab

Gene Symbol

Slc16a4

Ensembl Gene

ENSMUSG00000027896

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9661 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107198546-107219431 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107213359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 451 (D451E)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]

AlphaFold

Q8R0M8

Predicted Effect

probably benign
Transcript: ENSMUST00000029502

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896

Domain	Start	End	E-Value	Type
Pfam:MFS_1	27	373	8.2e-26	PFAM
Pfam:MFS_1	305	499	2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106723
AA Change: D451E

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

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: D451E

Domain	Start	End	E-Value	Type
Pfam:MFS_1	27	375	2.1e-28	PFAM
Pfam:MFS_1	327	462	3.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,451 (GRCm39)	H445Q	possibly damaging	Het
Aadacl4	C	A	4: 144,340,287 (GRCm39)	P4Q	probably damaging	Het
Adgre1	A	G	17: 57,748,368 (GRCm39)	T523A	possibly damaging	Het
Arhgap32	A	G	9: 32,168,531 (GRCm39)	E838G	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Card10	C	T	15: 78,683,318 (GRCm39)	R275H	probably damaging	Het
Cdh16	A	G	8: 105,345,612 (GRCm39)	V327A	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cttnbp2	T	A	6: 18,429,151 (GRCm39)	Q159L		Het
D630003M21Rik	A	G	2: 158,047,673 (GRCm39)	L732P	possibly damaging	Het
Dgcr8	T	C	16: 18,098,579 (GRCm39)	I308V	possibly damaging	Het
Dhx9	A	G	1: 153,340,393 (GRCm39)	F702L	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Eea1	T	C	10: 95,862,742 (GRCm39)	L888S	probably benign	Het
Elmo1	T	C	13: 20,469,531 (GRCm39)		probably null	Het
Fam186a	T	A	15: 99,842,492 (GRCm39)	I1251F	possibly damaging	Het
Fer1l4	G	A	2: 155,862,336 (GRCm39)	A1779V	probably damaging	Het
Fgfrl1	C	T	5: 108,853,841 (GRCm39)	T407I	probably benign	Het
Gkn1	T	C	6: 87,325,173 (GRCm39)	K79E	probably damaging	Het
Gm11564	C	T	11: 99,706,247 (GRCm39)	R61H	unknown	Het
Gpr107	T	C	2: 31,057,075 (GRCm39)	F56L	probably benign	Het
H2-T22	T	C	17: 36,353,371 (GRCm39)		probably benign	Het
Hs1bp3	T	C	12: 8,367,940 (GRCm39)	V63A	probably damaging	Het
Htr6	A	G	4: 138,801,963 (GRCm39)	I37T	probably damaging	Het
Kifc5b	T	C	17: 27,140,836 (GRCm39)		probably null	Het
Lrfn2	T	C	17: 49,403,650 (GRCm39)	I591T	probably benign	Het
Lrrc49	A	T	9: 60,573,582 (GRCm39)	I300N	probably damaging	Het
Lyst	A	G	13: 13,808,779 (GRCm39)	T150A	probably benign	Het
Myh11	T	C	16: 14,041,857 (GRCm39)	Q722R		Het
Nek9	T	C	12: 85,361,253 (GRCm39)	Q484R	possibly damaging	Het
Nfs1	A	T	2: 155,970,473 (GRCm39)	V280E	probably damaging	Het
Notch3	T	A	17: 32,373,792 (GRCm39)	D472V	probably damaging	Het
Nt5c1b	T	C	12: 10,425,450 (GRCm39)	V273A	probably damaging	Het
Nudt12	T	C	17: 59,316,981 (GRCm39)	D222G	probably benign	Het
Nup98	G	A	7: 101,782,019 (GRCm39)	Q1204*	probably null	Het
Nwd2	A	T	5: 63,957,780 (GRCm39)	Y370F	probably damaging	Het
Oas3	A	T	5: 120,904,230 (GRCm39)	I548N	unknown	Het
Ogfr	A	T	2: 180,233,431 (GRCm39)	N78Y	probably damaging	Het
Or10ak11	A	T	4: 118,687,526 (GRCm39)	L36Q	probably benign	Het
Prkcq	A	T	2: 11,250,141 (GRCm39)	K153*	probably null	Het
Ptpdc1	T	A	13: 48,739,610 (GRCm39)	N607I	probably benign	Het
Rab5c	G	T	11: 100,606,917 (GRCm39)	Q221K	probably benign	Het
Ret	G	A	6: 118,150,437 (GRCm39)	T693I	probably benign	Het
Rnf20	A	G	4: 49,654,556 (GRCm39)	E871G	probably damaging	Het
Rtl1	G	T	12: 109,557,346 (GRCm39)	P1498T	possibly damaging	Het
Septin9	C	G	11: 117,245,751 (GRCm39)	R458G	possibly damaging	Het
Sh2d2a	T	C	3: 87,756,788 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc36a3	A	G	11: 55,015,984 (GRCm39)	F390S	probably benign	Het
Slc4a2	T	A	5: 24,640,005 (GRCm39)	M576K	probably damaging	Het
Smim14	T	C	5: 65,610,533 (GRCm39)	H88R	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Sspo	C	T	6: 48,455,272 (GRCm39)	Q3045*	probably null	Het
Supt7l	C	A	5: 31,680,403 (GRCm39)	R3M	probably damaging	Het
Tjap1	A	G	17: 46,571,092 (GRCm39)	W132R	probably damaging	Het
Tmem26	T	A	10: 68,559,838 (GRCm39)	W37R	probably damaging	Het
Tut7	T	C	13: 59,937,332 (GRCm39)	D1155G	probably damaging	Het
Vmn1r119	C	T	7: 20,746,224 (GRCm39)	V53M	possibly damaging	Het
Vmn2r54	A	T	7: 12,349,166 (GRCm39)	N805K	probably benign	Het
Zfp638	T	C	6: 83,923,320 (GRCm39)	V706A	probably damaging	Het

Other mutations in Slc16a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Slc16a4	APN	3	107,210,416 (GRCm39)	missense	possibly damaging	0.67
IGL01311:Slc16a4	APN	3	107,199,821 (GRCm39)	missense	possibly damaging	0.83
IGL01509:Slc16a4	APN	3	107,218,750 (GRCm39)	critical splice acceptor site	probably null
IGL01780:Slc16a4	APN	3	107,210,415 (GRCm39)	missense	probably benign	0.00
IGL02294:Slc16a4	APN	3	107,208,384 (GRCm39)	missense	probably benign	0.00
IGL02350:Slc16a4	APN	3	107,210,415 (GRCm39)	missense	probably benign	0.00
IGL02357:Slc16a4	APN	3	107,210,415 (GRCm39)	missense	probably benign	0.00
IGL02792:Slc16a4	APN	3	107,206,193 (GRCm39)	missense	probably benign
IGL02873:Slc16a4	APN	3	107,208,111 (GRCm39)	missense	probably benign	0.00
IGL03001:Slc16a4	APN	3	107,218,858 (GRCm39)	missense	possibly damaging	0.91
IGL03002:Slc16a4	APN	3	107,208,102 (GRCm39)	missense	probably benign	0.07
R0370:Slc16a4	UTSW	3	107,208,413 (GRCm39)	missense	possibly damaging	0.66
R0525:Slc16a4	UTSW	3	107,205,255 (GRCm39)	splice site	probably benign
R1192:Slc16a4	UTSW	3	107,206,189 (GRCm39)	missense	probably benign	0.07
R1458:Slc16a4	UTSW	3	107,208,248 (GRCm39)	missense	probably benign	0.00
R1939:Slc16a4	UTSW	3	107,208,317 (GRCm39)	missense	probably benign	0.00
R2061:Slc16a4	UTSW	3	107,208,027 (GRCm39)	missense	probably benign	0.00
R2098:Slc16a4	UTSW	3	107,208,163 (GRCm39)	nonsense	probably null
R2102:Slc16a4	UTSW	3	107,211,819 (GRCm39)	splice site	probably null
R3411:Slc16a4	UTSW	3	107,208,188 (GRCm39)	missense	probably benign
R4983:Slc16a4	UTSW	3	107,208,176 (GRCm39)	missense	probably benign	0.00
R5394:Slc16a4	UTSW	3	107,199,758 (GRCm39)	missense	probably benign
R5804:Slc16a4	UTSW	3	107,206,280 (GRCm39)	missense	probably benign	0.04
R6077:Slc16a4	UTSW	3	107,208,381 (GRCm39)	missense	possibly damaging	0.91
R6626:Slc16a4	UTSW	3	107,208,512 (GRCm39)	missense	possibly damaging	0.95
R6693:Slc16a4	UTSW	3	107,210,380 (GRCm39)	missense	probably damaging	1.00
R6811:Slc16a4	UTSW	3	107,206,233 (GRCm39)	missense	probably benign	0.06
R6823:Slc16a4	UTSW	3	107,218,814 (GRCm39)	missense	probably benign	0.02
R6982:Slc16a4	UTSW	3	107,206,589 (GRCm39)	missense	probably benign	0.01
R7050:Slc16a4	UTSW	3	107,208,148 (GRCm39)	missense	probably benign
R7103:Slc16a4	UTSW	3	107,218,787 (GRCm39)	missense	probably damaging	1.00
R7608:Slc16a4	UTSW	3	107,210,443 (GRCm39)	missense	probably damaging	1.00
R7623:Slc16a4	UTSW	3	107,205,297 (GRCm39)	missense	possibly damaging	0.71
R8013:Slc16a4	UTSW	3	107,218,794 (GRCm39)	missense	probably damaging	1.00
R8014:Slc16a4	UTSW	3	107,218,794 (GRCm39)	missense	probably damaging	1.00
R8713:Slc16a4	UTSW	3	107,218,901 (GRCm39)	makesense	probably null
R8876:Slc16a4	UTSW	3	107,208,101 (GRCm39)	missense	probably benign	0.12
R9266:Slc16a4	UTSW	3	107,199,788 (GRCm39)	missense	probably benign	0.10
X0018:Slc16a4	UTSW	3	107,208,131 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTAGTTAAAGGGAGAGGTTTCGCG -3'
(R):5'- TTGCCCATGTGATCGCTATAG -3'

Sequencing Primer
(F):5'- AGAGGTTTCGCGGAGTTCTC -3'
(R):5'- AGGATTTACTGTTTGCCAGATTCC -3'

Posted On

2022-10-06