Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Tbc1d5'

661918

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50733124-51179352 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 50984603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024717 (fasta)

Gene Model

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

AlphaFold

Q80XQ2

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000224528

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars	A	G	8: 111,042,249	D227G	possibly damaging	Het
Actl11	T	A	9: 107,928,866	D129E	probably benign	Het
Adam12	T	A	7: 133,890,200	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,757,359	V732E	probably damaging	Het
Adcy1	T	C	11: 7,161,328	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,009,648	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,795,756	E99G	possibly damaging	Het
AI314180	T	C	4: 58,834,515	S788G	probably benign	Het
Ankk1	T	A	9: 49,417,992	M93L		Het
Ankmy1	A	T	1: 92,885,250	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,057,791	Y309F	probably damaging	Het
Arg2	C	T	12: 79,150,020	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,048,991	*834L	probably null	Het
Avl9	T	A	6: 56,753,393	S574T	probably benign	Het
AW551984	G	A	9: 39,599,709	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,531	L283F	probably damaging	Het
BC051142	A	T	17: 34,448,808	Q158L	possibly damaging	Het
Birc6	G	A	17: 74,609,119	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,586,168	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,492,148	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cntn2	A	T	1: 132,522,993	L548Q	probably damaging	Het
Copg1	A	G	6: 87,892,655	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,121,568	N185Y	probably benign	Het
Dapk3	T	C	10: 81,190,235	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,803,982	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,523,203	R143*	probably null	Het
Dnah5	A	T	15: 28,289,221	E1185D	probably benign	Het
Dopey2	C	T	16: 93,771,811	T1587I	probably damaging	Het
Dopey2	A	G	16: 93,773,921	T1603A	probably benign	Het
Dym	T	A	18: 75,230,018	V531E	probably damaging	Het
Eif2b4	A	T	5: 31,187,930	F453L	probably damaging	Het
Entpd8	G	A	2: 25,084,980	G441D	probably damaging	Het
Fam71d	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,715,283		probably benign	Het
Galnt6	A	T	15: 100,694,722	Y535N	probably damaging	Het
Gm10340	T	A	14: 3,134,949	D72E	possibly damaging	Het
Gm13102	T	A	4: 144,109,110	D449E	probably damaging	Het
Hdac9	T	A	12: 34,390,221	K386N	probably damaging	Het
Hgs	T	A	11: 120,475,218	C212*	probably null	Het
Hoxa2	C	A	6: 52,164,560	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,499,444	W278R	probably damaging	Het
Irf7	C	T	7: 141,263,509	G389R	probably null	Het
Lipo1	G	A	19: 33,782,204	L211F	probably benign	Het
Mars2	C	T	1: 55,238,582	T448I	probably benign	Het
Mcm4	C	A	16: 15,635,274	G184C	probably damaging	Het
Mmaa	C	T	8: 79,267,969	A403T	probably damaging	Het
Mmel1	A	G	4: 154,889,528	I342V	probably benign	Het
Myb	T	C	10: 21,150,506	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,517,569		probably null	Het
Npas2	A	G	1: 39,347,627	Q659R	probably benign	Het
Npr1	A	G	3: 90,455,190	V941A	probably benign	Het
Numa1	T	G	7: 101,977,410	M1R	probably null	Het
Obscn	T	C	11: 59,076,879	S2700G	probably benign	Het
Olfr1002	A	T	2: 85,648,066	I85N	probably benign	Het
Olfr721-ps1	T	A	14: 14,407,480	L84H	probably benign	Het
Olfr730	A	T	14: 50,186,746	M157K	possibly damaging	Het
Pdpr	T	A	8: 111,123,860	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,871,805	S1630T		Het
Prdm16	A	G	4: 154,528,704	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,940,529	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,552,267	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,795,176	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,571		probably benign	Het
Smc3	T	A	19: 53,641,185	S994T	possibly damaging	Het
Sparc	A	G	11: 55,401,957	C147R	probably damaging	Het
Supt6	A	T	11: 78,217,901	D1191E	probably benign	Het
Susd4	T	C	1: 182,892,267		probably null	Het
Tecta	T	G	9: 42,366,972	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,902,857	W2538L	probably damaging	Het
Trappc9	A	G	15: 73,012,815	F439L	probably benign	Het
Vegfa	A	T	17: 46,031,470	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,849,007	D132V	probably benign	Het
Wdr60	G	T	12: 116,229,642	D563E	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
R3153:Tbc1d5	UTSW	17	50968236	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
R7184:Tbc1d5	UTSW	17	50800082	missense	probably benign	0.00
R7443:Tbc1d5	UTSW	17	50966735	missense	probably damaging	1.00
R7484:Tbc1d5	UTSW	17	50917545	missense	possibly damaging	0.68
R7696:Tbc1d5	UTSW	17	50874577	missense	probably damaging	1.00
R7787:Tbc1d5	UTSW	17	50874683	nonsense	probably null
R7827:Tbc1d5	UTSW	17	50782263	missense	probably damaging	0.99
R7841:Tbc1d5	UTSW	17	50799922	small deletion	probably benign
R7861:Tbc1d5	UTSW	17	50756692	missense	probably damaging	0.99
R7931:Tbc1d5	UTSW	17	50799864	splice site	probably benign
R8108:Tbc1d5	UTSW	17	50742086	missense	probably benign	0.01
R8434:Tbc1d5	UTSW	17	50782427	splice site	probably benign
R8792:Tbc1d5	UTSW	17	50799934	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50799934	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50799935	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50799941	small insertion	probably benign
R8799:Tbc1d5	UTSW	17	50799950	small insertion	probably benign
R8848:Tbc1d5	UTSW	17	50919054	missense	probably damaging	1.00
R9027:Tbc1d5	UTSW	17	50756664	missense	probably damaging	0.97
R9176:Tbc1d5	UTSW	17	50782335	missense	probably benign
R9751:Tbc1d5	UTSW	17	50874652	missense	possibly damaging	0.65
Z1088:Tbc1d5	UTSW	17	50963696	missense	probably damaging	1.00
Z1177:Tbc1d5	UTSW	17	50966553	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCAGACTGTCGTGTACCAC -3'
(R):5'- GCTCTGAGTACAAAAGATAATTGGG -3'

Sequencing Primer
(F):5'- GACTGTCGTGTACCACAAAGTC -3'
(R):5'- TAATTGGGAAGATAGAAAAGGGCAG -3'

Posted On

2021-03-08