Mutagenetix > Incidental Mutations

Incidental Mutation 'R3153:Tbc1d5'

264500

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

MMRRC Submission

040604-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R3153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50733124-51179352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50968236 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 77 (I77T)

Ref Sequence

ENSEMBL: ENSMUSP00000153172 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024717
AA Change: I77T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: I77T

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 damaging
Transcript: ENSMUST00000224528
AA Change: I77T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225252

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,440,824	N200H	probably damaging	Het
Abca17	T	A	17: 24,328,746	D218V	probably damaging	Het
Abhd12	A	G	2: 150,834,355	F361L	probably benign	Het
Abr	A	T	11: 76,486,469	I59N	probably damaging	Het
Agbl1	A	G	7: 76,720,196	E681G	probably damaging	Het
B3gnt4	G	T	5: 123,510,653	R27L	probably benign	Het
Cct8l1	A	C	5: 25,517,139	E284A	probably damaging	Het
Chd7	T	A	4: 8,855,174	N2134K	probably benign	Het
Chrna3	C	T	9: 55,016,050	C158Y	probably damaging	Het
Cndp2	C	A	18: 84,668,597	M433I	probably benign	Het
Cnnm3	T	A	1: 36,521,222	S608T	probably damaging	Het
Cnot1	T	C	8: 95,744,278	E1314G	possibly damaging	Het
Col20a1	C	T	2: 181,008,593	P1074L	probably damaging	Het
Coq6	G	A	12: 84,371,535	V298M	probably damaging	Het
Cpt1a	A	G	19: 3,356,430	Y132C	probably damaging	Het
Dcdc2a	A	C	13: 25,102,357	I125L	probably benign	Het
Eps8l1	A	T	7: 4,471,799	I321F	probably damaging	Het
Fancd2	A	G	6: 113,593,269	S1394G	possibly damaging	Het
Fcrl5	T	C	3: 87,443,680	F166L	probably benign	Het
Gatc	T	C	5: 115,335,487	E131G	probably benign	Het
Gpld1	T	C	13: 24,943,620	S2P	unknown	Het
Gprc5b	G	A	7: 118,976,547	P385L	probably damaging	Het
Gsc2	G	A	16: 17,914,500	R137W	probably damaging	Het
Hsd3b1	T	C	3: 98,852,664	D337G	probably damaging	Het
Ireb2	T	C	9: 54,885,946		probably null	Het
Kank1	T	A	19: 25,410,688	V575E	possibly damaging	Het
Kcnmb1	A	T	11: 33,966,339	D95V	probably damaging	Het
L3mbtl4	T	A	17: 68,457,248	Y125*	probably null	Het
Lce1h	C	T	3: 92,763,675	G57R	unknown	Het
Lgalsl	A	G	11: 20,826,487	F135S	probably damaging	Het
Lrba	A	G	3: 86,285,219	M147V	probably damaging	Het
Mdm2	T	C	10: 117,709,713	E23G	possibly damaging	Het
Mthfd1	C	A	12: 76,311,963	Q67K	probably benign	Het
Mtus2	T	C	5: 148,083,060	L755P	probably damaging	Het
Olfr1026	T	C	2: 85,923,730	V154A	probably benign	Het
Orc3	A	G	4: 34,575,124	F587L	probably damaging	Het
Pcdhb7	C	T	18: 37,343,073	P421S	probably damaging	Het
Pgk2	T	A	17: 40,208,243	D98V	probably damaging	Het
Pkd1l1	A	C	11: 8,867,207	S1364A	probably benign	Het
Rin3	A	C	12: 102,368,541	E157A	unknown	Het
Rnf126	A	T	10: 79,761,631	I149N	probably damaging	Het
Rph3a	T	C	5: 120,973,377	T47A	probably damaging	Het
Sap18	T	C	14: 57,801,945	M68T	probably benign	Het
Sfrp2	A	G	3: 83,773,270	T246A	probably benign	Het
Slc18a3	A	G	14: 32,463,271	V385A	probably benign	Het
Slitrk3	C	T	3: 73,048,982	W819*	probably null	Het
Smap1	A	T	1: 23,853,549	D111E	probably damaging	Het
Spesp1	G	A	9: 62,282,094		probably benign	Het
Styk1	A	T	6: 131,310,012	Y84*	probably null	Het
Sv2a	T	A	3: 96,185,258	D91E	possibly damaging	Het
Trim10	T	A	17: 36,871,688	C149S	probably damaging	Het
Zbtb38	T	C	9: 96,688,249	K261E	probably benign	Het
Zfp202	T	C	9: 40,208,438	L179P	probably benign	Het
Zkscan5	T	A	5: 145,212,627	S251R	probably benign	Het

Other mutations in Tbc1d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Tbc1d5	APN	17	50813798	missense	possibly damaging	0.52
IGL01370:Tbc1d5	APN	17	50966727	missense	probably benign	0.18
IGL01625:Tbc1d5	APN	17	50917573	missense	probably benign	0.27
IGL01935:Tbc1d5	APN	17	50963765	splice site	probably benign
IGL02229:Tbc1d5	APN	17	50852600	missense	probably damaging	1.00
IGL02811:Tbc1d5	APN	17	50800121	missense	probably damaging	0.99
IGL03192:Tbc1d5	APN	17	50984681	splice site	probably benign
FR4976:Tbc1d5	UTSW	17	50799931	missense	probably benign
FR4976:Tbc1d5	UTSW	17	50799943	missense	probably benign	0.01
IGL02796:Tbc1d5	UTSW	17	50966624	missense	probably damaging	1.00
R0153:Tbc1d5	UTSW	17	50984687	splice site	probably benign
R0326:Tbc1d5	UTSW	17	50966736	missense	probably damaging	1.00
R0417:Tbc1d5	UTSW	17	50756705	missense	probably benign	0.18
R0481:Tbc1d5	UTSW	17	50919051	missense	probably damaging	0.98
R1143:Tbc1d5	UTSW	17	50742059	nonsense	probably null
R1533:Tbc1d5	UTSW	17	50920575	missense	possibly damaging	0.89
R1543:Tbc1d5	UTSW	17	50935532	missense	probably benign	0.32
R2888:Tbc1d5	UTSW	17	50935549	missense	probably damaging	1.00
R3430:Tbc1d5	UTSW	17	50800128	missense	probably damaging	1.00
R3898:Tbc1d5	UTSW	17	50963744	missense	probably damaging	0.98
R4116:Tbc1d5	UTSW	17	50920587	missense	probably damaging	1.00
R4352:Tbc1d5	UTSW	17	50782401	missense	probably damaging	0.98
R4456:Tbc1d5	UTSW	17	50782341	missense	probably damaging	1.00
R4648:Tbc1d5	UTSW	17	50736223	missense	probably benign
R4711:Tbc1d5	UTSW	17	50935509	missense	probably damaging	0.98
R4754:Tbc1d5	UTSW	17	50800165	missense	probably benign	0.03
R5303:Tbc1d5	UTSW	17	50736200	missense	probably benign	0.00
R5360:Tbc1d5	UTSW	17	50984632	missense	probably benign	0.26
R5443:Tbc1d5	UTSW	17	50735967	missense	probably damaging	0.98
R5444:Tbc1d5	UTSW	17	50735967	missense	probably damaging	0.98
R5611:Tbc1d5	UTSW	17	50735967	missense	probably damaging	0.98
R5658:Tbc1d5	UTSW	17	50813841	missense	probably benign	0.18
R5701:Tbc1d5	UTSW	17	50799955	small deletion	probably benign
R5921:Tbc1d5	UTSW	17	50963693	missense	probably damaging	1.00
R6280:Tbc1d5	UTSW	17	50782310	missense	probably benign	0.01
R6628:Tbc1d5	UTSW	17	50736208	missense	probably benign
R6705:Tbc1d5	UTSW	17	51025175	start gained	probably benign
R6990:Tbc1d5	UTSW	17	50968232	missense	probably benign	0.19
Z1088:Tbc1d5	UTSW	17	50963696	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCATGAATGGCTAAGAAGTTGG -3'
(R):5'- AGAAGACAGCCATTCGTTCAG -3'

Sequencing Primer
(F):5'- TTGGGAGAGAAATATCCTGAAATTTC -3'
(R):5'- GACAGCCATTCGTTCAGATACAG -3'

Posted On

2015-02-05