Mutagenetix > Incidental Mutation

Incidental Mutation 'R2025:Tbc1d30'

220474

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d30

Ensembl Gene

ENSMUSG00000052302

Gene Name

TBC1 domain family, member 30

Synonyms

4930505D03Rik

MMRRC Submission

040034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2025 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121263820-121351278 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121279146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 369 (Y369F)

Ref Sequence

ENSEMBL: ENSMUSP00000070488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064107]

AlphaFold

Q69ZT9

Predicted Effect

probably benign
Transcript: ENSMUST00000064107
AA Change: Y369F

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: Y369F

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
TBC	84	318	2.22e-30	SMART
low complexity region	392	403	N/A	INTRINSIC
Pfam:DUF4682	475	613	4.3e-50	PFAM
low complexity region	623	633	N/A	INTRINSIC
low complexity region	649	657	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218111

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	T	C	2: 148,782,228	F41L	probably damaging	Het
Abcc4	T	C	14: 118,553,325	M757V	probably benign	Het
Acan	T	G	7: 79,101,222	S1914A	probably benign	Het
Axin2	T	A	11: 108,943,078	V617D	probably damaging	Het
Bhlhe22	A	G	3: 18,055,811	S342G	probably benign	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,746,173		probably null	Het
Ccdc34	A	G	2: 110,032,386	K179E	possibly damaging	Het
Clasp1	A	G	1: 118,504,899	T208A	probably damaging	Het
Crabp1	C	T	9: 54,768,468	R112*	probably null	Het
D130040H23Rik	A	G	8: 69,302,873	N310S	probably benign	Het
Dalrd3	T	C	9: 108,571,085	I278T	probably benign	Het
Dbp	C	A	7: 45,708,276	D89E	probably benign	Het
Dennd2c	A	G	3: 103,131,689	D51G	possibly damaging	Het
Dido1	A	T	2: 180,689,181	L158*	probably null	Het
Disp1	G	T	1: 183,088,203	F884L	probably damaging	Het
Dmrtb1	T	C	4: 107,683,585	D193G	probably damaging	Het
Dnah8	A	G	17: 30,731,159	D1984G	probably damaging	Het
Dpf2	T	C	19: 5,902,753	Y218C	possibly damaging	Het
Dsg4	C	T	18: 20,466,636	Q770*	probably null	Het
Efemp1	A	T	11: 28,914,696	Y250F	possibly damaging	Het
Erbin	A	T	13: 103,830,195	I1249N	probably benign	Het
F5	A	G	1: 164,209,475	K1928E	probably benign	Het
Fam160a2	A	G	7: 105,388,936	V260A	probably damaging	Het
Fam206a	T	A	4: 56,805,916	I138N	probably damaging	Het
Gdf11	T	A	10: 128,891,445	I81F	probably damaging	Het
Gm10518	T	A	1: 179,803,918		probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Grb10	G	C	11: 11,970,576	S14*	probably null	Het
Greb1l	A	T	18: 10,515,221	Y562F	possibly damaging	Het
Gtf2ird1	T	C	5: 134,363,934	E789G	probably damaging	Het
Hook3	T	C	8: 26,038,098	E588G	probably damaging	Het
Hpx	A	G	7: 105,595,104	S266P	probably damaging	Het
Hs6st3	A	G	14: 119,869,389	D403G	probably damaging	Het
Igf2bp1	A	G	11: 95,974,170	V151A	possibly damaging	Het
Itga11	C	T	9: 62,762,811	T739I	probably damaging	Het
Kalrn	T	C	16: 34,189,736	I702V	probably damaging	Het
Kif2b	C	T	11: 91,577,346	S37N	probably damaging	Het
Kng2	T	A	16: 23,000,575	D237V	probably benign	Het
Krtap27-1	C	A	16: 88,671,285	V124L	possibly damaging	Het
Lig4	A	T	8: 9,972,436	L448Q	probably damaging	Het
Macf1	C	T	4: 123,371,918	A4821T	probably damaging	Het
Msh5	T	A	17: 35,032,792	I431F	possibly damaging	Het
Ndufa10	A	G	1: 92,439,892	Y339H	probably damaging	Het
Nin	T	A	12: 70,030,008	Q1091L	probably damaging	Het
Nom1	A	C	5: 29,446,851	D729A	probably damaging	Het
Olfr671	C	A	7: 104,975,244	G247V	probably benign	Het
P2ry14	A	T	3: 59,115,445	V207E	probably damaging	Het
Pdss2	A	T	10: 43,393,875	N238I	possibly damaging	Het
Pkn1	A	G	8: 83,671,378	V795A	probably damaging	Het
Pla2g6	A	C	15: 79,286,764	L804R	probably damaging	Het
Poglut1	A	T	16: 38,537,905		probably null	Het
Prkcz	A	T	4: 155,289,710	V83D	probably damaging	Het
Prss50	T	C	9: 110,861,260	F157S	probably benign	Het
Psors1c2	A	G	17: 35,534,202		probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab7	G	A	6: 88,004,179	L174F	probably damaging	Het
Rapgef4	A	G	2: 72,242,739	T790A	probably benign	Het
Rb1cc1	G	T	1: 6,245,309	V503L	probably damaging	Het
Sbf1	T	A	15: 89,302,730	E815V	probably damaging	Het
Setd3	T	A	12: 108,160,267	E104V	probably damaging	Het
Slc39a5	A	T	10: 128,398,410	L208Q	probably damaging	Het
Slc39a5	G	T	10: 128,398,411	L208M	probably damaging	Het
Slc3a1	T	G	17: 85,032,845	Y232D	probably damaging	Het
Slc8a1	T	A	17: 81,649,112	S166C	probably damaging	Het
Stard9	T	A	2: 120,702,398	D3045E	probably benign	Het
Stk4	C	A	2: 164,096,831	D206E	probably damaging	Het
Syn3	T	C	10: 86,466,982	D103G	probably damaging	Het
Tenm2	G	T	11: 36,047,264	Y1527*	probably null	Het
Tfg	T	C	16: 56,705,625	K85R	possibly damaging	Het
Timp3	T	C	10: 86,300,885	L11P	probably damaging	Het
Tmem144	A	T	3: 79,827,711		probably null	Het
Tmtc4	T	C	14: 122,921,265	N682S	probably benign	Het
Tnks2	C	T	19: 36,866,066	L464F	probably damaging	Het
Trank1	T	C	9: 111,392,039	F2615L	probably benign	Het
Trio	T	C	15: 27,744,137	K2570E	probably damaging	Het
Trio	T	A	15: 27,773,927	D673V	probably damaging	Het
Ublcp1	A	T	11: 44,465,631	C87S	probably benign	Het
Unc13a	C	T	8: 71,639,768	E1386K	possibly damaging	Het
Wdr41	C	T	13: 95,018,948	H404Y	probably damaging	Het
Zfp280b	T	C	10: 76,038,494	L69S	probably damaging	Het
Zfp346	T	C	13: 55,132,308	S282P	probably damaging	Het
Zfp579	C	A	7: 4,993,521	E464*	probably null	Het
Zfp78	T	A	7: 6,375,514		probably null	Het
Zswim9	T	C	7: 13,269,366	E186G	probably damaging	Het

Other mutations in Tbc1d30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Tbc1d30	APN	10	121266824	utr 3 prime	probably benign
IGL00837:Tbc1d30	APN	10	121296845	missense	probably damaging	1.00
IGL01081:Tbc1d30	APN	10	121267414	missense	probably damaging	1.00
IGL01813:Tbc1d30	APN	10	121267051	missense	probably benign
IGL01844:Tbc1d30	APN	10	121267179	missense	probably benign	0.01
R1782:Tbc1d30	UTSW	10	121267620	missense	probably damaging	1.00
R1972:Tbc1d30	UTSW	10	121306230	splice site	probably null
R2197:Tbc1d30	UTSW	10	121304407	missense	probably damaging	1.00
R3752:Tbc1d30	UTSW	10	121272168	missense	probably damaging	1.00
R4374:Tbc1d30	UTSW	10	121294712	missense	probably damaging	1.00
R4540:Tbc1d30	UTSW	10	121279158	missense	probably damaging	0.99
R4624:Tbc1d30	UTSW	10	121296786	missense	probably damaging	0.99
R4960:Tbc1d30	UTSW	10	121267216	missense	probably benign	0.04
R5170:Tbc1d30	UTSW	10	121306838	missense	possibly damaging	0.49
R5566:Tbc1d30	UTSW	10	121302110	missense	probably damaging	1.00
R5642:Tbc1d30	UTSW	10	121296787	missense	probably damaging	1.00
R5726:Tbc1d30	UTSW	10	121267574	missense	probably damaging	1.00
R6051:Tbc1d30	UTSW	10	121296845	missense	probably damaging	1.00
R6364:Tbc1d30	UTSW	10	121294725	missense	possibly damaging	0.95
R7106:Tbc1d30	UTSW	10	121301992	missense	possibly damaging	0.94
R7233:Tbc1d30	UTSW	10	121272057	missense	probably benign	0.35
R7256:Tbc1d30	UTSW	10	121288965	missense	probably damaging	1.00
R7826:Tbc1d30	UTSW	10	121296805	missense	probably damaging	1.00
R7910:Tbc1d30	UTSW	10	121347156	nonsense	probably null
R7958:Tbc1d30	UTSW	10	121272057	missense	probably benign	0.35
R7978:Tbc1d30	UTSW	10	121306199	missense	probably damaging	1.00
R8021:Tbc1d30	UTSW	10	121267543	missense	probably benign	0.09
R8394:Tbc1d30	UTSW	10	121347108	nonsense	probably null
R8472:Tbc1d30	UTSW	10	121351104	missense	probably benign	0.00
R8532:Tbc1d30	UTSW	10	121267430	missense	probably damaging	1.00
R8887:Tbc1d30	UTSW	10	121351154	missense	possibly damaging	0.45
R9124:Tbc1d30	UTSW	10	121296811	missense	probably damaging	0.99
R9186:Tbc1d30	UTSW	10	121275734	missense	probably benign
R9282:Tbc1d30	UTSW	10	121306223	critical splice acceptor site	probably null
R9342:Tbc1d30	UTSW	10	121267461	nonsense	probably null
R9531:Tbc1d30	UTSW	10	121347200	missense	probably damaging	1.00
R9665:Tbc1d30	UTSW	10	121266981	missense	possibly damaging	0.83
R9799:Tbc1d30	UTSW	10	121306169	missense	possibly damaging	0.55
R9803:Tbc1d30	UTSW	10	121272075	missense	probably damaging	1.00
Z1176:Tbc1d30	UTSW	10	121302113	missense	probably damaging	1.00
Z1177:Tbc1d30	UTSW	10	121351064	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AGTTACTTTGCATATATCTGAGGGC -3'
(R):5'- TGCAATATTCCTAGGGCTTTAGTTC -3'

Sequencing Primer
(F):5'- TCTAACCTTCGAGAGACTTGAGGC -3'
(R):5'- GCTAGGATCTCATGTAGCCTAGC -3'

Posted On

2014-08-25