Mutagenetix > Incidental Mutation

Incidental Mutation 'R5566:Tbc1d30'

436840

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d30

Ensembl Gene

ENSMUSG00000052302

Gene Name

TBC1 domain family, member 30

Synonyms

4930505D03Rik

MMRRC Submission

043123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121099725-121187183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121138015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 232 (T232S)

Ref Sequence

ENSEMBL: ENSMUSP00000151922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064107] [ENSMUST00000219179]

AlphaFold

Q69ZT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000064107
AA Change: T142S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: T142S

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 damaging
Transcript: ENSMUST00000219179
AA Change: T232S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,244,615 (GRCm39)	Y2159*	probably null	Het
Abca3	A	G	17: 24,602,901 (GRCm39)	T499A	probably benign	Het
Abcb5	T	A	12: 118,899,702 (GRCm39)	T322S	probably damaging	Het
Adamts4	T	A	1: 171,078,419 (GRCm39)	M1K	probably null	Het
Adamtsl4	C	T	3: 95,592,765 (GRCm39)		probably null	Het
Adh4	A	T	3: 138,129,950 (GRCm39)	I259F	probably damaging	Het
Aff3	G	A	1: 38,220,505 (GRCm39)	S1135F	probably damaging	Het
Arhgef16	T	C	4: 154,370,105 (GRCm39)	D280G	probably benign	Het
Baiap3	T	C	17: 25,470,707 (GRCm39)	E71G	probably damaging	Het
Calb2	A	G	8: 110,879,332 (GRCm39)	I91T	possibly damaging	Het
Ccr5	A	G	9: 123,924,697 (GRCm39)	N100S	probably benign	Het
Cep57	G	T	9: 13,732,871 (GRCm39)	R25S	probably damaging	Het
Chadl	A	G	15: 81,580,079 (GRCm39)	L52P	probably damaging	Het
Clec12b	T	C	6: 129,362,438 (GRCm39)	T6A	probably damaging	Het
Cnga1	T	A	5: 72,775,593 (GRCm39)	N43Y	probably damaging	Het
Col20a1	A	T	2: 180,628,316 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,356,682 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,411,300 (GRCm39)		probably null	Het
Cyp39a1	T	A	17: 43,996,099 (GRCm39)	W224R	possibly damaging	Het
Defb29	A	T	2: 152,380,848 (GRCm39)	Y54N	probably benign	Het
Dmbt1	A	T	7: 130,708,003 (GRCm39)	D1241V	probably damaging	Het
Dnah1	A	T	14: 30,996,323 (GRCm39)	I2671K	probably benign	Het
Dnah2	C	A	11: 69,407,395 (GRCm39)	E158*	probably null	Het
Dynlt2b	A	G	16: 32,238,718 (GRCm39)	Y31C	probably damaging	Het
Edar	A	G	10: 58,464,463 (GRCm39)	S59P	possibly damaging	Het
Egr2	T	A	10: 67,376,596 (GRCm39)	C339*	probably null	Het
Eif5b	G	A	1: 38,084,765 (GRCm39)	V871I	possibly damaging	Het
Eif5b	G	A	1: 38,090,328 (GRCm39)	G1169E	probably damaging	Het
Erap1	A	G	13: 74,810,531 (GRCm39)	Y290C	probably damaging	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fkrp	C	T	7: 16,544,849 (GRCm39)	V338M	probably damaging	Het
Gabra6	T	C	11: 42,198,317 (GRCm39)	T378A	probably benign	Het
Gm4924	C	A	10: 82,214,475 (GRCm39)	Q17K	possibly damaging	Het
Gm9847	A	G	12: 14,545,000 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,543,919 (GRCm39)	F429S	probably damaging	Het
Gpr162	G	A	6: 124,837,901 (GRCm39)	R250*	probably null	Het
Gtf2a1	A	T	12: 91,534,368 (GRCm39)	D295E	possibly damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Herc1	T	A	9: 66,372,819 (GRCm39)	M3125K	possibly damaging	Het
Hoxb6	T	A	11: 96,191,580 (GRCm39)	Y167*	probably null	Het
Hrob	T	A	11: 102,146,659 (GRCm39)	S312T	probably damaging	Het
Htt	T	C	5: 35,006,419 (GRCm39)	Y1443H	probably damaging	Het
Il21r	A	G	7: 125,224,470 (GRCm39)	D28G	probably damaging	Het
Impact	T	G	18: 13,107,819 (GRCm39)	V29G	probably damaging	Het
Itpr3	A	G	17: 27,334,926 (GRCm39)	T2147A	possibly damaging	Het
Itsn2	T	A	12: 4,676,554 (GRCm39)	L50Q	probably damaging	Het
Jade1	A	G	3: 41,559,338 (GRCm39)	D473G	possibly damaging	Het
Kif26a	T	G	12: 112,123,788 (GRCm39)	L131R	probably damaging	Het
Kif2a	A	T	13: 107,130,432 (GRCm39)	M1K	probably null	Het
Lrsam1	C	A	2: 32,831,870 (GRCm39)	Q368H	probably damaging	Het
Macf1	T	C	4: 123,328,957 (GRCm39)	Q4592R	probably damaging	Het
Map3k5	T	C	10: 19,986,465 (GRCm39)	V893A	probably damaging	Het
Med13l	G	T	5: 118,866,730 (GRCm39)	V595F	possibly damaging	Het
Mocs1	T	A	17: 49,761,211 (GRCm39)	L435Q	possibly damaging	Het
Mtmr4	T	C	11: 87,495,356 (GRCm39)	L471P	probably damaging	Het
Myo7a	T	C	7: 97,714,023 (GRCm39)	E1616G	possibly damaging	Het
Nacad	T	A	11: 6,552,136 (GRCm39)	S352C	probably damaging	Het
Nfat5	T	A	8: 108,095,767 (GRCm39)	M817K	possibly damaging	Het
Ofcc1	C	A	13: 40,248,129 (GRCm39)	L668F	probably damaging	Het
Or12j2	C	A	7: 139,915,980 (GRCm39)	D68E	probably damaging	Het
Or7e178	T	C	9: 20,225,265 (GRCm39)	Q309R	probably benign	Het
Or8j3c	G	A	2: 86,253,721 (GRCm39)	Q100*	probably null	Het
Plxnb2	T	C	15: 89,048,223 (GRCm39)	T696A	probably benign	Het
Prkab2	T	A	3: 97,569,609 (GRCm39)	F58L	probably benign	Het
Prpf4	G	T	4: 62,334,206 (GRCm39)	L220F	probably benign	Het
Rad18	A	T	6: 112,658,307 (GRCm39)	D199E	probably benign	Het
Raet1e	T	C	10: 22,050,304 (GRCm39)	L29P	probably damaging	Het
Ralgapb	A	C	2: 158,336,630 (GRCm39)	T1089P	possibly damaging	Het
Rest	A	G	5: 77,430,173 (GRCm39)	E864G	probably benign	Het
Rgsl1	T	A	1: 153,669,520 (GRCm39)	I289F	probably damaging	Het
Rint1	T	C	5: 24,015,951 (GRCm39)	Y406H	probably damaging	Het
Rmc1	T	C	18: 12,313,749 (GRCm39)	I26T	possibly damaging	Het
Rpl31	C	T	1: 39,409,108 (GRCm39)	R41C	probably benign	Het
Scn8a	T	C	15: 100,872,415 (GRCm39)	S485P	probably damaging	Het
Slamf1	T	A	1: 171,615,538 (GRCm39)	V249E	possibly damaging	Het
Slc39a12	C	T	2: 14,412,414 (GRCm39)	T362I	possibly damaging	Het
Sos1	C	T	17: 80,761,319 (GRCm39)	V126I	possibly damaging	Het
Srcap	T	C	7: 127,124,475 (GRCm39)	F215S	probably damaging	Het
Supt4a	T	A	11: 87,634,113 (GRCm39)	S110T	probably benign	Het
Tenm3	A	G	8: 48,732,041 (GRCm39)	C1288R	probably damaging	Het
Tespa1	T	A	10: 130,191,356 (GRCm39)	L100*	probably null	Het
Tgm1	C	A	14: 55,949,893 (GRCm39)	R105L	probably damaging	Het
Tgoln1	G	A	6: 72,593,018 (GRCm39)	T154I	possibly damaging	Het
Trp53i13	G	A	11: 77,399,552 (GRCm39)	T259I	probably damaging	Het
Tubgcp4	T	A	2: 121,015,251 (GRCm39)	F320I	possibly damaging	Het
Tut7	A	T	13: 59,936,443 (GRCm39)	C817*	probably null	Het
Vmn1r21	A	C	6: 57,821,079 (GRCm39)	Y122D	probably benign	Het
Vmn1r75	T	A	7: 11,614,407 (GRCm39)	D46E	probably damaging	Het
Vmn2r120	A	T	17: 57,852,290 (GRCm39)	L9M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,247 (GRCm39)	I165T	possibly damaging	Het
Vmn2r76	A	T	7: 85,875,286 (GRCm39)	Y564N	probably damaging	Het
Wee1	G	T	7: 109,725,257 (GRCm39)	E300*	probably null	Het
Xdh	T	C	17: 74,200,617 (GRCm39)	D1168G	probably damaging	Het
Zfp54	A	G	17: 21,653,706 (GRCm39)	T67A	probably damaging	Het
Zfp941	G	T	7: 140,392,679 (GRCm39)	H227N	probably benign	Het
Zpr1	T	A	9: 46,192,373 (GRCm39)	V399D	possibly damaging	Het
Zzz3	A	G	3: 152,161,461 (GRCm39)	E285G	probably damaging	Het

Other mutations in Tbc1d30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Tbc1d30	APN	10	121,102,729 (GRCm39)	utr 3 prime	probably benign
IGL00837:Tbc1d30	APN	10	121,132,750 (GRCm39)	missense	probably damaging	1.00
IGL01081:Tbc1d30	APN	10	121,103,319 (GRCm39)	missense	probably damaging	1.00
IGL01813:Tbc1d30	APN	10	121,102,956 (GRCm39)	missense	probably benign
IGL01844:Tbc1d30	APN	10	121,103,084 (GRCm39)	missense	probably benign	0.01
R1782:Tbc1d30	UTSW	10	121,103,525 (GRCm39)	missense	probably damaging	1.00
R1972:Tbc1d30	UTSW	10	121,142,135 (GRCm39)	splice site	probably null
R2025:Tbc1d30	UTSW	10	121,115,051 (GRCm39)	missense	probably benign	0.18
R2197:Tbc1d30	UTSW	10	121,140,312 (GRCm39)	missense	probably damaging	1.00
R3752:Tbc1d30	UTSW	10	121,108,073 (GRCm39)	missense	probably damaging	1.00
R4374:Tbc1d30	UTSW	10	121,130,617 (GRCm39)	missense	probably damaging	1.00
R4540:Tbc1d30	UTSW	10	121,115,063 (GRCm39)	missense	probably damaging	0.99
R4624:Tbc1d30	UTSW	10	121,132,691 (GRCm39)	missense	probably damaging	0.99
R4960:Tbc1d30	UTSW	10	121,103,121 (GRCm39)	missense	probably benign	0.04
R5170:Tbc1d30	UTSW	10	121,142,743 (GRCm39)	missense	possibly damaging	0.49
R5642:Tbc1d30	UTSW	10	121,132,692 (GRCm39)	missense	probably damaging	1.00
R5726:Tbc1d30	UTSW	10	121,103,479 (GRCm39)	missense	probably damaging	1.00
R6051:Tbc1d30	UTSW	10	121,132,750 (GRCm39)	missense	probably damaging	1.00
R6364:Tbc1d30	UTSW	10	121,130,630 (GRCm39)	missense	possibly damaging	0.95
R7106:Tbc1d30	UTSW	10	121,137,897 (GRCm39)	missense	possibly damaging	0.94
R7233:Tbc1d30	UTSW	10	121,107,962 (GRCm39)	missense	probably benign	0.35
R7256:Tbc1d30	UTSW	10	121,124,870 (GRCm39)	missense	probably damaging	1.00
R7826:Tbc1d30	UTSW	10	121,132,710 (GRCm39)	missense	probably damaging	1.00
R7910:Tbc1d30	UTSW	10	121,183,061 (GRCm39)	nonsense	probably null
R7958:Tbc1d30	UTSW	10	121,107,962 (GRCm39)	missense	probably benign	0.35
R7978:Tbc1d30	UTSW	10	121,142,104 (GRCm39)	missense	probably damaging	1.00
R8021:Tbc1d30	UTSW	10	121,103,448 (GRCm39)	missense	probably benign	0.09
R8394:Tbc1d30	UTSW	10	121,183,013 (GRCm39)	nonsense	probably null
R8472:Tbc1d30	UTSW	10	121,187,009 (GRCm39)	missense	probably benign	0.00
R8532:Tbc1d30	UTSW	10	121,103,335 (GRCm39)	missense	probably damaging	1.00
R8887:Tbc1d30	UTSW	10	121,187,059 (GRCm39)	missense	possibly damaging	0.45
R9124:Tbc1d30	UTSW	10	121,132,716 (GRCm39)	missense	probably damaging	0.99
R9186:Tbc1d30	UTSW	10	121,111,639 (GRCm39)	missense	probably benign
R9282:Tbc1d30	UTSW	10	121,142,128 (GRCm39)	critical splice acceptor site	probably null
R9342:Tbc1d30	UTSW	10	121,103,366 (GRCm39)	nonsense	probably null
R9531:Tbc1d30	UTSW	10	121,183,105 (GRCm39)	missense	probably damaging	1.00
R9665:Tbc1d30	UTSW	10	121,102,886 (GRCm39)	missense	possibly damaging	0.83
R9799:Tbc1d30	UTSW	10	121,142,074 (GRCm39)	missense	possibly damaging	0.55
R9803:Tbc1d30	UTSW	10	121,107,980 (GRCm39)	missense	probably damaging	1.00
Z1176:Tbc1d30	UTSW	10	121,138,018 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d30	UTSW	10	121,186,969 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGAACCTGACACTCACCTTC -3'
(R):5'- TCTATGCTCATAGAGGTAAAGGTG -3'

Sequencing Primer
(F):5'- TGACACTCACCTTCAGCGC -3'
(R):5'- GCTTTCAATCATGTGACCAGGCAG -3'

Posted On

2016-10-24