Mutagenetix > Incidental Mutation

Incidental Mutation 'R4456:Tbc1d5'

329209

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

MMRRC Submission

041716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4456 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51040152-51486380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 51089369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 604 (S604A)

Ref Sequence

ENSEMBL: ENSMUSP00000153172 (fasta)

Gene Model

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

AlphaFold

Q80XQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000024717
AA Change: S582A

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

SMART Domains

Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: S582A

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

probably damaging
Transcript: ENSMUST00000224528
AA Change: S604A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224977

Meta Mutation Damage Score

0.1026

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,833,071 (GRCm39)	F1210L	probably benign	Het
Amfr	C	T	8: 94,711,568 (GRCm39)	A323T	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cdc42ep1	A	G	15: 78,734,091 (GRCm39)	E397G	possibly damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Dnmt1	T	C	9: 20,821,138 (GRCm39)	T1250A	probably damaging	Het
Dst	A	T	1: 34,229,800 (GRCm39)	K2642N	probably benign	Het
Emcn	A	T	3: 137,085,608 (GRCm39)	K69*	probably null	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Fbxo38	G	T	18: 62,659,320 (GRCm39)	R326S	probably damaging	Het
Fcer1g	A	G	1: 171,061,808 (GRCm39)	S3P	probably benign	Het
Glp1r	G	T	17: 31,137,949 (GRCm39)	E127*	probably null	Het
Gnmt	G	T	17: 47,039,910 (GRCm39)	H56Q	probably benign	Het
Hectd4	C	T	5: 121,446,334 (GRCm39)	T1513I	possibly damaging	Het
Hsd3b1	G	A	3: 98,763,459 (GRCm39)	T48I	probably benign	Het
Kmt2c	A	T	5: 25,515,210 (GRCm39)	C2878S	probably benign	Het
Loxhd1	A	G	18: 77,486,785 (GRCm39)	Y1290C	probably damaging	Het
Mkln1	A	G	6: 31,403,707 (GRCm39)	Y76C	probably damaging	Het
Mri1	C	A	8: 84,983,035 (GRCm39)	A129S	probably benign	Het
Mroh2b	A	T	15: 4,977,407 (GRCm39)	H1253L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mthfsd	C	T	8: 121,832,504 (GRCm39)	V63I	possibly damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nbea	A	G	3: 55,551,205 (GRCm39)	V2653A	probably benign	Het
Nckap5	A	T	1: 125,842,472 (GRCm39)		probably benign	Het
Notch4	G	A	17: 34,802,807 (GRCm39)	V1378M	probably damaging	Het
Or51a42	A	G	7: 103,708,507 (GRCm39)	S101P	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rasl12	A	G	9: 65,305,866 (GRCm39)	K7R	probably null	Het
Rnf4	A	G	5: 34,508,705 (GRCm39)	Y189C	probably benign	Het
Shroom3	A	G	5: 93,088,858 (GRCm39)	H536R	probably benign	Het
Slc2a4	G	A	11: 69,834,148 (GRCm39)		probably benign	Het
Tcp11l1	A	T	2: 104,514,567 (GRCm39)	V400E	probably damaging	Het
Tom1l2	G	T	11: 60,243,641 (GRCm39)		probably benign	Het
Ttc28	AC	A	5: 111,371,924 (GRCm39)		probably null	Het
Txndc15	A	G	13: 55,865,977 (GRCm39)	D147G	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
IGL03192:Tbc1d5	APN	17	51,291,709 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCCCAGGTAACAAAGATCGAG -3'
(R):5'- GAAAGTGACTTCCTAGCTAATCATG -3'

Sequencing Primer
(F):5'- AGATCGAGGCCTTAAAATATTGC -3'
(R):5'- TGACTCAGTGATGATCTGG -3'

Posted On

2015-07-21