Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Slc16a13'

74949

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc16a13

Ensembl Gene

ENSMUSG00000044367

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 13

Synonyms

1700007D07Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.568) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

70107615-70111890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70111340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 55 (I55T)

Ref Sequence

ENSEMBL: ENSMUSP00000053218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000326] [ENSMUST00000060010] [ENSMUST00000094055] [ENSMUST00000123716] [ENSMUST00000126296] [ENSMUST00000126388] [ENSMUST00000159867] [ENSMUST00000141290] [ENSMUST00000190533] [ENSMUST00000171032] [ENSMUST00000136328]

AlphaFold

Q8CE94

Predicted Effect

probably benign
Transcript: ENSMUST00000000326

SMART Domains

Protein: ENSMUSP00000000326
Gene: ENSMUSG00000000317

Domain	Start	End	E-Value	Type
BTB	38	135	2.17e-25	SMART
low complexity region	143	163	N/A	INTRINSIC
ZnF_C2H2	323	345	4.11e-2	SMART
ZnF_C2H2	351	373	2.12e-4	SMART
ZnF_C2H2	379	401	8.34e-3	SMART
ZnF_C2H2	407	429	1.12e-3	SMART
ZnF_C2H2	435	458	1.33e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000060010
AA Change: I55T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053218
Gene: ENSMUSG00000044367
AA Change: I55T

Domain	Start	End	E-Value	Type
Pfam:MFS_1	14	277	1.7e-22	PFAM
Pfam:MFS_1	219	423	6.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094055

SMART Domains

Protein: ENSMUSP00000091597
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	340	5.5e-24	PFAM
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	380	402	N/A	INTRINSIC
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122852

Predicted Effect

probably benign
Transcript: ENSMUST00000123716

SMART Domains

Protein: ENSMUSP00000114871
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126296

SMART Domains

Protein: ENSMUSP00000118381
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
Pfam:MFS_1	16	196	2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126388

SMART Domains

Protein: ENSMUSP00000116648
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	340	5.5e-24	PFAM
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	380	402	N/A	INTRINSIC
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159867
AA Change: I55T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124687
Gene: ENSMUSG00000044367
AA Change: I55T

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141290
AA Change: I55T

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116316
Gene: ENSMUSG00000044367
AA Change: I55T

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	52	74	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149880

Predicted Effect

probably benign
Transcript: ENSMUST00000190533

Predicted Effect

probably benign
Transcript: ENSMUST00000171032

SMART Domains

Protein: ENSMUSP00000128419
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	316	1.8e-24	PFAM
transmembrane domain	343	365	N/A	INTRINSIC
transmembrane domain	380	402	N/A	INTRINSIC
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136328

SMART Domains

Protein: ENSMUSP00000115212
Gene: ENSMUSG00000040938

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:MFS_1	66	297	8.3e-10	PFAM
low complexity region	306	324	N/A	INTRINSIC
transmembrane domain	332	354	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,033,416 (GRCm39)		probably benign	Het
Adgrf1	T	A	17: 43,624,086 (GRCm39)	F835L	probably null	Het
Akp3	G	T	1: 87,054,858 (GRCm39)		probably benign	Het
BC106179	G	T	16: 23,043,037 (GRCm39)		probably benign	Het
Bysl	C	A	17: 47,912,814 (GRCm39)	M325I	probably benign	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Crnn	A	G	3: 93,055,633 (GRCm39)	R140G	probably benign	Het
Cts8	T	C	13: 61,397,010 (GRCm39)		probably benign	Het
Cxcr4	T	C	1: 128,517,292 (GRCm39)	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,812,150 (GRCm39)	T691A	probably benign	Het
Dhx30	A	T	9: 109,915,313 (GRCm39)	F782I	probably benign	Het
Efcab5	C	T	11: 77,020,756 (GRCm39)	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,252,570 (GRCm39)	V381I	probably benign	Het
Enpp3	A	T	10: 24,681,820 (GRCm39)	Y295*	probably null	Het
Fbxo28	T	C	1: 182,144,577 (GRCm39)	E329G	probably damaging	Het
Fcgbpl1	A	G	7: 27,850,127 (GRCm39)	Q1191R	probably benign	Het
Fmnl2	T	A	2: 53,013,557 (GRCm39)	V972D	probably damaging	Het
Fmr1	A	G	X: 67,731,901 (GRCm39)	D22G	probably damaging	Het
Fsip2	A	G	2: 82,830,163 (GRCm39)	T6886A	possibly damaging	Het
Gadl1	A	G	9: 115,903,180 (GRCm39)	*503W	probably null	Het
Gpc6	A	T	14: 117,424,224 (GRCm39)	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,866,135 (GRCm39)	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,922,586 (GRCm39)	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,765,806 (GRCm39)	N412K	probably damaging	Het
Marco	C	T	1: 120,422,469 (GRCm39)		probably null	Het
Mdga2	T	C	12: 66,769,883 (GRCm39)	T206A	probably damaging	Het
Mogat2	C	A	7: 98,881,775 (GRCm39)	A54S	possibly damaging	Het
Myh15	T	A	16: 48,976,040 (GRCm39)	D1369E	probably benign	Het
Nckap1	A	T	2: 80,350,186 (GRCm39)	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,216,312 (GRCm39)		probably null	Het
Nfrkb	C	A	9: 31,300,250 (GRCm39)	L14I	probably damaging	Het
Notch1	C	A	2: 26,362,917 (GRCm39)	A950S	probably benign	Het
Notch3	T	C	17: 32,362,410 (GRCm39)	E1405G	probably benign	Het
Nsd2	C	A	5: 34,000,922 (GRCm39)	D146E	probably damaging	Het
Oc90	T	C	15: 65,761,440 (GRCm39)	T193A	probably benign	Het
Or7c70	A	T	10: 78,683,431 (GRCm39)	V106E	probably damaging	Het
Or8g50	C	A	9: 39,649,011 (GRCm39)	A300D	probably damaging	Het
Or8k40	T	A	2: 86,584,843 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,532,014 (GRCm39)		probably null	Het
Pacsin2	T	C	15: 83,270,887 (GRCm39)	H254R	probably damaging	Het
Pif1	T	A	9: 65,496,844 (GRCm39)	M319K	probably damaging	Het
Prag1	G	A	8: 36,570,200 (GRCm39)	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,474,700 (GRCm39)	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,490,399 (GRCm39)	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 64,380,349 (GRCm39)	Q828*	probably null	Het
Skint6	A	G	4: 113,140,823 (GRCm39)	V6A	probably benign	Het
Slc22a3	A	T	17: 12,644,516 (GRCm39)	W490R	probably damaging	Het
Speer4b	G	T	5: 27,702,881 (GRCm39)	H208N	probably benign	Het
Tas2r124	T	C	6: 132,732,378 (GRCm39)	L229S	probably damaging	Het
Tlr4	T	C	4: 66,752,124 (GRCm39)		probably benign	Het
Tmed1	G	T	9: 21,421,369 (GRCm39)	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,445,779 (GRCm39)		probably benign	Het
Ugt2b34	A	G	5: 87,052,247 (GRCm39)	S250P	possibly damaging	Het
Zfp516	A	G	18: 83,011,221 (GRCm39)	T1085A	probably damaging	Het
Znfx1	T	C	2: 166,879,283 (GRCm39)	I1698V	probably benign	Het
Zswim8	G	T	14: 20,763,409 (GRCm39)	W385C	probably damaging	Het

Other mutations in Slc16a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0729:Slc16a13	UTSW	11	70,109,857 (GRCm39)	missense	probably damaging	1.00
R0792:Slc16a13	UTSW	11	70,111,457 (GRCm39)	missense	probably damaging	1.00
R1086:Slc16a13	UTSW	11	70,109,850 (GRCm39)	missense	probably damaging	1.00
R1588:Slc16a13	UTSW	11	70,109,421 (GRCm39)	nonsense	probably null
R1593:Slc16a13	UTSW	11	70,109,908 (GRCm39)	missense	probably benign	0.04
R4329:Slc16a13	UTSW	11	70,108,723 (GRCm39)	missense	probably benign	0.03
R4688:Slc16a13	UTSW	11	70,111,101 (GRCm39)	missense	probably damaging	0.98
R6846:Slc16a13	UTSW	11	70,108,661 (GRCm39)	missense	probably benign	0.35
R7380:Slc16a13	UTSW	11	70,110,105 (GRCm39)	missense	probably damaging	1.00
R7390:Slc16a13	UTSW	11	70,109,797 (GRCm39)	missense	probably benign	0.03
R7514:Slc16a13	UTSW	11	70,109,710 (GRCm39)	missense	probably damaging	0.96
R7807:Slc16a13	UTSW	11	70,111,388 (GRCm39)	missense	probably damaging	0.97
R7888:Slc16a13	UTSW	11	70,109,806 (GRCm39)	missense	possibly damaging	0.79
R9104:Slc16a13	UTSW	11	70,111,530 (GRCm39)	intron	probably benign
R9630:Slc16a13	UTSW	11	70,108,597 (GRCm39)	missense	possibly damaging	0.62

Posted On

2013-10-07