Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01317:Tbc1d10a'

73909

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d10a

Ensembl Gene

ENSMUSG00000034412

Gene Name

TBC1 domain family, member 10a

Synonyms

EPI64, Tbc1d10

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01317

Quality Score

Status

Chromosome

Chromosomal Location

4136789-4165505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4162826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 223 (Y223F)

Ref Sequence

ENSEMBL: ENSMUSP00000036861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041042] [ENSMUST00000180088]

AlphaFold

P58802

Predicted Effect

probably benign
Transcript: ENSMUST00000041042
AA Change: Y223F

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036861
Gene: ENSMUSG00000034412
AA Change: Y223F

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
TBC	142	359	6e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151672

Predicted Effect

probably benign
Transcript: ENSMUST00000180088
AA Change: Y189F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136453
Gene: ENSMUSG00000034412
AA Change: Y189F

Domain	Start	End	E-Value	Type
TBC	108	325	6e-59	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased circulating LDL cholesterol levels, decreased circulating alanine transaminase and alkaline phosphatase levels, abnormal liver physiology, and increased chromosomal stability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,362,597 (GRCm39)	D609E	probably damaging	Het
Aldh3b1	T	C	19: 3,968,104 (GRCm39)	I352V	probably benign	Het
Apeh	A	T	9: 107,963,406 (GRCm39)	S605R	probably benign	Het
Arhgap32	A	G	9: 32,168,260 (GRCm39)	K748E	probably benign	Het
Avpr1a	T	C	10: 122,285,472 (GRCm39)	S255P	probably benign	Het
Cadps2	T	A	6: 23,314,172 (GRCm39)	D1124V	possibly damaging	Het
Cask	C	T	X: 13,388,499 (GRCm39)	E83K	probably damaging	Het
Cep170b	A	G	12: 112,704,078 (GRCm39)	Y670C	probably damaging	Het
Chd3	A	G	11: 69,244,037 (GRCm39)	Y1343H	probably damaging	Het
Cit	T	A	5: 116,046,775 (GRCm39)	V396D	probably benign	Het
Cldn18	T	C	9: 99,578,135 (GRCm39)	T203A	probably benign	Het
Dido1	A	C	2: 180,313,550 (GRCm39)	N907K	probably benign	Het
Dmbt1	T	A	7: 130,642,921 (GRCm39)	D246E	probably damaging	Het
Dph1	T	C	11: 75,071,486 (GRCm39)	H303R	probably benign	Het
Dspp	T	A	5: 104,321,914 (GRCm39)	Y8N	probably damaging	Het
Efhc2	C	T	X: 17,071,198 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,203,663 (GRCm39)	V215E	probably damaging	Het
Fhip1a	T	C	3: 85,580,153 (GRCm39)	D684G	probably benign	Het
Foxm1	T	A	6: 128,344,316 (GRCm39)	M22K	probably damaging	Het
Gdpd4	A	C	7: 97,647,465 (GRCm39)	M371L	possibly damaging	Het
Hdac9	T	C	12: 34,479,488 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,413,908 (GRCm39)	W162R	probably damaging	Het
Hydin	A	T	8: 111,053,078 (GRCm39)	D250V	probably damaging	Het
Itga4	T	A	2: 79,153,005 (GRCm39)	C897*	probably null	Het
Itprid1	G	T	6: 55,944,790 (GRCm39)	A504S	possibly damaging	Het
Kcnd2	T	C	6: 21,727,339 (GRCm39)	*631Q	probably null	Het
Kcnn2	A	G	18: 45,693,694 (GRCm39)		probably null	Het
Lama1	A	T	17: 68,125,696 (GRCm39)	E2951V	probably damaging	Het
Lyst	A	G	13: 13,845,455 (GRCm39)	Q1944R	probably benign	Het
Mmp14	A	G	14: 54,673,247 (GRCm39)	T52A	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,372 (GRCm39)	N102K	probably benign	Het
Mrpl28	G	A	17: 26,344,489 (GRCm39)	G205D	probably damaging	Het
Mtmr4	T	C	11: 87,493,230 (GRCm39)		probably benign	Het
Oog2	A	G	4: 143,921,837 (GRCm39)	N249S	probably benign	Het
Or4f57	T	A	2: 111,790,620 (GRCm39)	H266L	possibly damaging	Het
Ppp6r2	T	A	15: 89,170,131 (GRCm39)	V882E	possibly damaging	Het
Qser1	A	C	2: 104,617,324 (GRCm39)	Y1073D	probably damaging	Het
Rbl2	C	A	8: 91,826,685 (GRCm39)	D480E	probably damaging	Het
Rfx7	G	A	9: 72,525,818 (GRCm39)	G1003S	probably damaging	Het
Rrh	A	C	3: 129,616,074 (GRCm39)	F20V	possibly damaging	Het
Rwdd3	A	G	3: 120,965,282 (GRCm39)	I15T	possibly damaging	Het
Sestd1	A	T	2: 77,022,889 (GRCm39)	M493K	possibly damaging	Het
Slc17a8	T	A	10: 89,456,666 (GRCm39)	L32F	probably benign	Het
Slc29a4	A	G	5: 142,691,285 (GRCm39)	D55G	probably benign	Het
Tbx20	A	G	9: 24,681,051 (GRCm39)	V147A	probably damaging	Het
Tmem63c	A	T	12: 87,118,770 (GRCm39)		probably benign	Het
Tmtc2	C	A	10: 105,249,646 (GRCm39)	R29L	probably damaging	Het
Ttc21b	T	A	2: 66,018,700 (GRCm39)	M1236L	probably benign	Het
Unc119	T	A	11: 78,238,052 (GRCm39)	C12S	probably damaging	Het
Vcan	A	G	13: 89,839,787 (GRCm39)	M1919T	probably benign	Het
Zmat4	C	A	8: 24,392,185 (GRCm39)	T47K	probably benign	Het

Other mutations in Tbc1d10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02354:Tbc1d10a	APN	11	4,165,047 (GRCm39)	missense	probably benign	0.00
IGL02361:Tbc1d10a	APN	11	4,165,047 (GRCm39)	missense	probably benign	0.00
IGL03382:Tbc1d10a	APN	11	4,159,984 (GRCm39)	missense	probably damaging	1.00
R0021:Tbc1d10a	UTSW	11	4,163,680 (GRCm39)	missense	probably damaging	1.00
R0021:Tbc1d10a	UTSW	11	4,163,680 (GRCm39)	missense	probably damaging	1.00
R0194:Tbc1d10a	UTSW	11	4,162,901 (GRCm39)	critical splice donor site	probably null
R0383:Tbc1d10a	UTSW	11	4,162,819 (GRCm39)	missense	probably damaging	0.98
R7388:Tbc1d10a	UTSW	11	4,155,858 (GRCm39)	critical splice donor site	probably null
R7432:Tbc1d10a	UTSW	11	4,163,016 (GRCm39)	nonsense	probably null
R7811:Tbc1d10a	UTSW	11	4,136,948 (GRCm39)	missense	possibly damaging	0.94
R8358:Tbc1d10a	UTSW	11	4,155,837 (GRCm39)	missense	probably damaging	1.00
R9147:Tbc1d10a	UTSW	11	4,136,835 (GRCm39)	missense	unknown
R9231:Tbc1d10a	UTSW	11	4,164,885 (GRCm39)	missense	probably damaging	1.00
R9475:Tbc1d10a	UTSW	11	4,163,604 (GRCm39)	missense	probably damaging	1.00
R9714:Tbc1d10a	UTSW	11	4,163,683 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07