Mutagenetix > Incidental Mutation

Incidental Mutation 'R9751:Tbc1d5'

732543

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d5

Ensembl Gene

ENSMUSG00000023923

Gene Name

TBC1 domain family, member 5

Synonyms

1600014N05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50733124-51179352 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50874652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 351 (V351A)

Ref Sequence

ENSEMBL: ENSMUSP00000024717 (fasta)

Gene Model

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

AlphaFold

Q80XQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024717
AA Change: V351A

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024717
Gene: ENSMUSG00000023923
AA Change: V351A

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

possibly damaging
Transcript: ENSMUST00000224528
AA Change: V351A

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,011,740	I54M		Het
Abca4	A	G	3: 122,087,477	N514D	probably benign	Het
Adgre1	G	A	17: 57,450,101	R786H	probably null	Het
Ankrd7	G	A	6: 18,868,025	V97I	probably damaging	Het
Bmper	C	T	9: 23,406,713	P543S	possibly damaging	Het
Brwd1	A	T	16: 95,993,815	M2233K	possibly damaging	Het
C1s2	G	T	6: 124,625,594	P553T	probably damaging	Het
Cachd1	G	A	4: 100,966,241	V497I	possibly damaging	Het
Cacng4	A	G	11: 107,735,193	S191P	probably damaging	Het
Cd109	C	A	9: 78,698,160	T1015K	probably damaging	Het
Clstn2	A	G	9: 97,457,650	L756P	probably damaging	Het
Crybg3	A	T	16: 59,557,524	D1122E	possibly damaging	Het
Csf2	A	T	11: 54,249,594	L6*	probably null	Het
Csnk1g2	T	A	10: 80,637,911	Y71N	possibly damaging	Het
Dlg2	C	A	7: 90,915,523	H116N	probably benign	Het
Dnah14	C	T	1: 181,792,045	S3978L	probably damaging	Het
Dpp8	C	T	9: 65,053,171	T328I	probably null	Het
Dysf	T	C	6: 84,186,468	V1625A	probably damaging	Het
Egf	C	A	3: 129,754,889	V26F	probably damaging	Het
Fam126a	C	T	5: 23,991,750	E47K	probably benign	Het
Fam20a	T	A	11: 109,675,166	Y414F	probably damaging	Het
Fsip2	T	C	2: 82,987,897	I4658T	probably benign	Het
Gm11639	G	A	11: 104,893,085	G2754E	probably benign	Het
Gm21319	T	C	12: 87,773,756	N11S	possibly damaging	Het
Igflr1	A	T	7: 30,567,228	Q167L	possibly damaging	Het
Krt79	T	G	15: 101,930,761	E424D	probably benign	Het
Map3k6	A	G	4: 133,251,857		probably null	Het
Mcpt4	A	G	14: 56,060,054	I215T	probably damaging	Het
Med13	T	C	11: 86,299,158	Y975C	probably damaging	Het
Meioc	T	A	11: 102,675,593	Y678*	probably null	Het
Myof	T	C	19: 37,936,370	T1190A	probably benign	Het
Nap1l4	A	C	7: 143,534,395		probably benign	Het
Ncapg	T	C	5: 45,693,853	V796A	probably damaging	Het
Olfr1167	T	A	2: 88,149,270	I250L	probably benign	Het
Olfr1168	T	A	2: 88,184,916	V13E	possibly damaging	Het
Olfr1224-ps1	C	T	2: 89,156,438	V246M	possibly damaging	Het
Olfr1257	C	T	2: 89,881,612	T262I	probably benign	Het
Olfr493	T	C	7: 108,346,438	Y181C	probably benign	Het
Paxbp1	A	G	16: 91,027,300	S515P	probably benign	Het
Plce1	C	T	19: 38,728,970	S1401F	probably damaging	Het
Rptor	A	G	11: 119,887,138	K1043E	probably benign	Het
Rtn4rl2	T	G	2: 84,880,695	N75T	probably damaging	Het
Slc35f4	A	G	14: 49,298,834	I448T	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tas2r115	A	G	6: 132,737,955	I11T	possibly damaging	Het
Tmem55b	A	G	14: 50,927,979	V257A	probably benign	Het
Trim43b	A	T	9: 89,089,517	D195E	probably benign	Het
Trim65	C	A	11: 116,130,738	A90S	probably benign	Het
Trip11	C	T	12: 101,884,506	V1100I	possibly damaging	Het
Tyrp1	A	G	4: 80,840,775	E295G	probably null	Het
Ube2g2	G	A	10: 77,644,473	V138I	probably benign	Het
Wdr60	T	A	12: 116,241,783		probably null	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
R8683:Tbc1d5	UTSW	17	50984603	critical splice donor site	probably null
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
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'- GCAGTGATTTCCTCTGACATTTCATAC -3'
(R):5'- TGCTTTGACACATGATGCTTCC -3'

Sequencing Primer
(F):5'- TCCTCTGACATTTCATACATTTTCTG -3'
(R):5'- GAGGAAAGGATCACTCTCAG -3'

Posted On

2022-11-14