Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Tbc1d30'

735325

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d30

Ensembl Gene

ENSMUSG00000052302

Gene Name

TBC1 domain family, member 30

Synonyms

4930505D03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121263820-121351278 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121272075 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 474 (D474V)

Ref Sequence

ENSEMBL: ENSMUSP00000070488 (fasta)

Gene Model

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

AlphaFold

Q69ZT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000064107
AA Change: D474V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: D474V

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,703,903	S52P	unknown	Het
Ank2	A	G	3: 126,959,077	M330T	possibly damaging	Het
Ankar	C	T	1: 72,659,181	V905I	possibly damaging	Het
Anln	G	T	9: 22,372,222	D438E	probably damaging	Het
C1ql3	T	C	2: 13,004,389	N215S	probably damaging	Het
Ccdc110	A	G	8: 45,942,589	S506G	probably benign	Het
Ccdc87	A	G	19: 4,841,147	T556A	probably benign	Het
Cma1	A	T	14: 55,941,729	N236K	probably benign	Het
Csmd2	T	C	4: 128,369,193	F724S		Het
Cts8	T	C	13: 61,253,322	K130R	possibly damaging	Het
Daam1	A	T	12: 71,944,148	T179S	unknown	Het
Fancd2os	T	C	6: 113,597,977	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,504,854	I168N	probably damaging	Het
Gckr	G	A	5: 31,300,024	G127D	probably damaging	Het
Gm11444	G	A	11: 85,846,873	Q164*	probably null	Het
Gm28042	T	A	2: 120,038,503	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,192,971	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,668,903	H198Q	possibly damaging	Het
Hps6	T	A	19: 46,005,508	L628*	probably null	Het
Igha	G	A	12: 113,259,139	H221Y		Het
Ighm	A	G	12: 113,419,015	S453P		Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Lfng	A	G	5: 140,607,773	T120A	probably damaging	Het
Lrrc4	C	T	6: 28,662,200	A172T	probably benign	Het
Lrrc56	A	G	7: 141,207,607	T386A	probably benign	Het
Mapkbp1	A	T	2: 120,010,775	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,073,600	V293L	probably benign	Het
Mrto4	T	A	4: 139,349,070	N70I	probably damaging	Het
Mxra8	C	T	4: 155,839,825		probably benign	Het
Myo1h	A	G	5: 114,345,936	E548G		Het
Ncan	C	T	8: 70,108,101	D739N	probably benign	Het
Olfr315	T	C	11: 58,778,769	V214A	probably benign	Het
Oxgr1	T	C	14: 120,022,151	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,752,035	V86E	probably damaging	Het
Pclo	G	A	5: 14,712,615	V416M		Het
Phf3	G	T	1: 30,830,791	T392K	probably benign	Het
Pkhd1	A	T	1: 20,566,849	V379E	probably damaging	Het
Ppfia3	T	C	7: 45,341,115	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,422,217	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,782,670	D384E	probably benign	Het
Rergl	A	G	6: 139,500,763	F23L	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Sidt2	A	G	9: 45,943,614	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,141,132	I66K	probably damaging	Het
Tenm4	G	A	7: 96,553,478	G100D	probably damaging	Het
Tmem258	G	A	19: 10,207,273	V75I	probably benign	Het
Tmem91	G	T	7: 25,670,563	H95N	probably damaging	Het
Trps1	T	C	15: 50,846,694	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,943,717	M209K	probably benign	Het
Tspan17	C	A	13: 54,793,279	Q124K	probably benign	Het
Uts2b	G	A	16: 27,360,942	R105*	probably null	Het
Vmn2r110	T	A	17: 20,583,468	T282S	probably benign	Het
Xdh	T	A	17: 73,922,460	M333L	probably benign	Het
Zbtb3	A	G	19: 8,804,469	E482G	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
R2025:Tbc1d30	UTSW	10	121279146	missense	probably benign	0.18
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
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'- ACTGGGAGCCATCCTATGAG -3'
(R):5'- TGGTTCCCATTTGCTCAGG -3'

Sequencing Primer
(F):5'- GCCATCCTATGAGACAAAGTGATCTC -3'
(R):5'- ATTTGCTCAGGTCCCCTCCG -3'

Posted On

2022-11-14