Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03192:Tbc1d5'

412693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03192

Quality Score

Status

Chromosome

Chromosomal Location

51040152-51486380 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 51291709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024717] [ENSMUST00000224528]

AlphaFold

Q80XQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000024717

SMART Domains

Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923

Domain	Start	End	E-Value	Type
TBC	78	384	5.56e-86	SMART
low complexity region	475	492	N/A	INTRINSIC
SCOP:d1lsha3	511	546	1e-3	SMART
low complexity region	556	568	N/A	INTRINSIC
low complexity region	783	802	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223979

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224123

Predicted Effect

probably benign
Transcript: ENSMUST00000224528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225252

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	G	A	3: 137,933,721 (GRCm39)	G293S	probably damaging	Het
Ahi1	G	A	10: 20,841,534 (GRCm39)	V274I	probably benign	Het
Arfip2	C	T	7: 105,287,150 (GRCm39)	R138H	probably damaging	Het
Asb8	G	A	15: 98,033,776 (GRCm39)	R260C	possibly damaging	Het
Cfh	A	T	1: 140,026,759 (GRCm39)	H531Q	possibly damaging	Het
Clcn7	C	A	17: 25,352,575 (GRCm39)	P42Q	probably benign	Het
Cxcr6	G	T	9: 123,639,111 (GRCm39)	K37N	possibly damaging	Het
Fndc3c1	C	T	X: 105,479,922 (GRCm39)		probably null	Het
Gramd1b	A	T	9: 40,218,097 (GRCm39)	L429H	probably damaging	Het
Grm1	T	C	10: 10,955,660 (GRCm39)	D208G	possibly damaging	Het
H2-T24	C	T	17: 36,326,368 (GRCm39)	W177*	probably null	Het
Il17rc	G	A	6: 113,449,846 (GRCm39)	V151M	probably damaging	Het
Magi3	A	G	3: 103,950,562 (GRCm39)	F741S	probably damaging	Het
Neil1	A	G	9: 57,050,819 (GRCm39)	S339P	probably benign	Het
Nptx1	T	A	11: 119,437,585 (GRCm39)	N182I	probably benign	Het
Or3a1c	T	A	11: 74,046,076 (GRCm39)	I32K	probably benign	Het
Phtf2	A	G	5: 20,966,717 (GRCm39)	V723A	probably damaging	Het
Rbp3	G	T	14: 33,680,540 (GRCm39)	M1047I	possibly damaging	Het
Rhobtb1	A	G	10: 69,084,653 (GRCm39)	I15V	probably damaging	Het
Rtbdn	T	A	8: 85,679,284 (GRCm39)	S30T	probably benign	Het
Serinc4	G	T	2: 121,282,872 (GRCm39)	S430*	probably null	Het
Slc25a33	A	G	4: 149,829,223 (GRCm39)	I312T	probably damaging	Het
Speer3	A	G	5: 13,841,702 (GRCm39)	R11G	possibly damaging	Het
Unc93a	A	T	17: 13,335,073 (GRCm39)	Y324*	probably null	Het
Wdr31	A	T	4: 62,372,149 (GRCm39)	D322E	possibly damaging	Het
Zbtb9	A	G	17: 27,193,272 (GRCm39)	T226A	probably benign	Het
Zfyve16	T	C	13: 92,657,748 (GRCm39)	E721G	possibly damaging	Het

Other mutations in Tbc1d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Tbc1d5	APN	17	51,120,826 (GRCm39)	missense	possibly damaging	0.52
IGL01370:Tbc1d5	APN	17	51,273,755 (GRCm39)	missense	probably benign	0.18
IGL01625:Tbc1d5	APN	17	51,224,601 (GRCm39)	missense	probably benign	0.27
IGL01935:Tbc1d5	APN	17	51,270,793 (GRCm39)	splice site	probably benign
IGL02229:Tbc1d5	APN	17	51,159,628 (GRCm39)	missense	probably damaging	1.00
IGL02811:Tbc1d5	APN	17	51,107,149 (GRCm39)	missense	probably damaging	0.99
FR4976:Tbc1d5	UTSW	17	51,106,971 (GRCm39)	missense	probably benign	0.01
FR4976:Tbc1d5	UTSW	17	51,106,959 (GRCm39)	missense	probably benign
IGL02796:Tbc1d5	UTSW	17	51,273,652 (GRCm39)	missense	probably damaging	1.00
R0153:Tbc1d5	UTSW	17	51,291,715 (GRCm39)	splice site	probably benign
R0326:Tbc1d5	UTSW	17	51,273,764 (GRCm39)	missense	probably damaging	1.00
R0417:Tbc1d5	UTSW	17	51,063,733 (GRCm39)	missense	probably benign	0.18
R0481:Tbc1d5	UTSW	17	51,226,079 (GRCm39)	missense	probably damaging	0.98
R1143:Tbc1d5	UTSW	17	51,049,087 (GRCm39)	nonsense	probably null
R1533:Tbc1d5	UTSW	17	51,227,603 (GRCm39)	missense	possibly damaging	0.89
R1543:Tbc1d5	UTSW	17	51,242,560 (GRCm39)	missense	probably benign	0.32
R2888:Tbc1d5	UTSW	17	51,242,577 (GRCm39)	missense	probably damaging	1.00
R3153:Tbc1d5	UTSW	17	51,275,264 (GRCm39)	missense	probably damaging	1.00
R3430:Tbc1d5	UTSW	17	51,107,156 (GRCm39)	missense	probably damaging	1.00
R3898:Tbc1d5	UTSW	17	51,270,772 (GRCm39)	missense	probably damaging	0.98
R4116:Tbc1d5	UTSW	17	51,227,615 (GRCm39)	missense	probably damaging	1.00
R4352:Tbc1d5	UTSW	17	51,089,429 (GRCm39)	missense	probably damaging	0.98
R4456:Tbc1d5	UTSW	17	51,089,369 (GRCm39)	missense	probably damaging	1.00
R4648:Tbc1d5	UTSW	17	51,043,251 (GRCm39)	missense	probably benign
R4711:Tbc1d5	UTSW	17	51,242,537 (GRCm39)	missense	probably damaging	0.98
R4754:Tbc1d5	UTSW	17	51,107,193 (GRCm39)	missense	probably benign	0.03
R5303:Tbc1d5	UTSW	17	51,043,228 (GRCm39)	missense	probably benign	0.00
R5360:Tbc1d5	UTSW	17	51,291,660 (GRCm39)	missense	probably benign	0.26
R5443:Tbc1d5	UTSW	17	51,042,995 (GRCm39)	missense	probably damaging	0.98
R5444:Tbc1d5	UTSW	17	51,042,995 (GRCm39)	missense	probably damaging	0.98
R5611:Tbc1d5	UTSW	17	51,042,995 (GRCm39)	missense	probably damaging	0.98
R5658:Tbc1d5	UTSW	17	51,120,869 (GRCm39)	missense	probably benign	0.18
R5701:Tbc1d5	UTSW	17	51,106,983 (GRCm39)	small deletion	probably benign
R5921:Tbc1d5	UTSW	17	51,270,721 (GRCm39)	missense	probably damaging	1.00
R6280:Tbc1d5	UTSW	17	51,089,338 (GRCm39)	missense	probably benign	0.01
R6628:Tbc1d5	UTSW	17	51,043,236 (GRCm39)	missense	probably benign
R6705:Tbc1d5	UTSW	17	51,332,203 (GRCm39)	start gained	probably benign
R6990:Tbc1d5	UTSW	17	51,275,260 (GRCm39)	missense	probably benign	0.19
R7184:Tbc1d5	UTSW	17	51,107,110 (GRCm39)	missense	probably benign	0.00
R7443:Tbc1d5	UTSW	17	51,273,763 (GRCm39)	missense	probably damaging	1.00
R7484:Tbc1d5	UTSW	17	51,224,573 (GRCm39)	missense	possibly damaging	0.68
R7696:Tbc1d5	UTSW	17	51,181,605 (GRCm39)	missense	probably damaging	1.00
R7787:Tbc1d5	UTSW	17	51,181,711 (GRCm39)	nonsense	probably null
R7827:Tbc1d5	UTSW	17	51,089,291 (GRCm39)	missense	probably damaging	0.99
R7841:Tbc1d5	UTSW	17	51,106,950 (GRCm39)	small deletion	probably benign
R7861:Tbc1d5	UTSW	17	51,063,720 (GRCm39)	missense	probably damaging	0.99
R7931:Tbc1d5	UTSW	17	51,106,892 (GRCm39)	splice site	probably benign
R8108:Tbc1d5	UTSW	17	51,049,114 (GRCm39)	missense	probably benign	0.01
R8434:Tbc1d5	UTSW	17	51,089,455 (GRCm39)	splice site	probably benign
R8683:Tbc1d5	UTSW	17	51,291,631 (GRCm39)	critical splice donor site	probably null
R8792:Tbc1d5	UTSW	17	51,106,962 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,969 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,963 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,962 (GRCm39)	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	51,106,978 (GRCm39)	small insertion	probably benign
R8848:Tbc1d5	UTSW	17	51,226,082 (GRCm39)	missense	probably damaging	1.00
R9027:Tbc1d5	UTSW	17	51,063,692 (GRCm39)	missense	probably damaging	0.97
R9176:Tbc1d5	UTSW	17	51,089,363 (GRCm39)	missense	probably benign
R9751:Tbc1d5	UTSW	17	51,181,680 (GRCm39)	missense	possibly damaging	0.65
Z1088:Tbc1d5	UTSW	17	51,270,724 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d5	UTSW	17	51,273,581 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02