Mutagenetix > Incidental Mutation

Incidental Mutation 'R7233:Tbc1d30'

562651

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d30

Ensembl Gene

ENSMUSG00000052302

Gene Name

TBC1 domain family, member 30

Synonyms

4930505D03Rik

MMRRC Submission

045343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7233 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121099725-121187183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121107962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 480 (R480L)

Ref Sequence

ENSEMBL: ENSMUSP00000070488 (fasta)

Gene Model

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

AlphaFold

Q69ZT9

Predicted Effect

probably benign
Transcript: ENSMUST00000064107
AA Change: R480L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: R480L

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

Meta Mutation Damage Score

0.0737

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,762,641 (GRCm39)	K505R	probably benign	Het
Arhgap24	A	G	5: 103,026,367 (GRCm39)	K263E	probably benign	Het
Ark2n	C	A	18: 77,722,882 (GRCm39)	V385F	probably damaging	Het
Armc2	A	T	10: 41,799,800 (GRCm39)	V686D	probably damaging	Het
Bhmt	T	A	13: 93,758,025 (GRCm39)	K229*	probably null	Het
Birc2	A	T	9: 7,827,009 (GRCm39)	C326S	probably damaging	Het
Blzf1	A	T	1: 164,123,512 (GRCm39)		probably null	Het
Camsap3	T	A	8: 3,650,371 (GRCm39)	F223Y	probably damaging	Het
Ccdc126	C	T	6: 49,316,775 (GRCm39)	T85M	probably damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2h	T	A	8: 105,744,088 (GRCm39)	C279S	probably damaging	Het
Cfap44	T	A	16: 44,242,771 (GRCm39)	L725Q	probably damaging	Het
Cibar2	A	G	8: 120,898,661 (GRCm39)	L131P	probably damaging	Het
Clip1	T	C	5: 123,749,922 (GRCm39)	E987G	probably damaging	Het
Cog1	G	T	11: 113,540,556 (GRCm39)	R57L	probably damaging	Het
Ctdspl	T	C	9: 118,849,114 (GRCm39)		probably null	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dnttip2	T	C	3: 122,070,039 (GRCm39)	V418A	probably benign	Het
Dop1a	G	A	9: 86,403,749 (GRCm39)	A186T	probably benign	Het
Efcab3	T	C	11: 104,730,669 (GRCm39)	S1966P	possibly damaging	Het
Engase	T	A	11: 118,373,827 (GRCm39)	V323E	probably damaging	Het
Farsb	A	G	1: 78,447,718 (GRCm39)		probably null	Het
Fpr2	G	T	17: 18,113,766 (GRCm39)	W254L	probably damaging	Het
Frmd3	A	C	4: 73,932,023 (GRCm39)	H6P	probably benign	Het
Fscn1	C	T	5: 142,956,029 (GRCm39)	S366L	possibly damaging	Het
Galt	T	A	4: 41,758,267 (GRCm39)	I344N	probably benign	Het
Gfra4	A	T	2: 130,883,037 (GRCm39)	V194E	probably damaging	Het
Golgb1	T	C	16: 36,735,120 (GRCm39)	S1497P	possibly damaging	Het
Igfn1	A	C	1: 135,897,873 (GRCm39)	S898A	probably benign	Het
Igkv1-135	T	C	6: 67,587,332 (GRCm39)	S68P	probably benign	Het
Lama2	A	T	10: 27,107,659 (GRCm39)	C784S	probably damaging	Het
Lars2	G	T	9: 123,241,019 (GRCm39)	G229*	probably null	Het
Lats2	A	T	14: 57,960,151 (GRCm39)		probably null	Het
Lgr6	A	C	1: 134,928,214 (GRCm39)		probably null	Het
Lrp1	A	T	10: 127,430,930 (GRCm39)	I373N	probably damaging	Het
Maml2	A	T	9: 13,532,067 (GRCm39)	H427L		Het
Mansc1	A	G	6: 134,598,806 (GRCm39)	V37A	probably damaging	Het
Map4k3	A	G	17: 80,905,077 (GRCm39)	V738A	possibly damaging	Het
Mastl	A	G	2: 23,023,670 (GRCm39)	I351T	probably benign	Het
Mcmdc2	T	G	1: 10,002,408 (GRCm39)		probably null	Het
Mrgprd	A	G	7: 144,875,672 (GRCm39)	D181G	possibly damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Msra	T	C	14: 64,360,714 (GRCm39)	Y209C	probably damaging	Het
Musk	A	G	4: 58,373,307 (GRCm39)	E759G	possibly damaging	Het
Nab1	T	C	1: 52,498,378 (GRCm39)	*487W	probably null	Het
Or2z9	A	G	8: 72,853,900 (GRCm39)	T99A	probably benign	Het
Or5p66	T	A	7: 107,885,923 (GRCm39)	T137S	probably benign	Het
Pkdrej	A	G	15: 85,705,349 (GRCm39)	S196P	probably damaging	Het
Pln	A	G	10: 53,220,008 (GRCm39)	T17A	probably damaging	Het
Polrmt	A	T	10: 79,581,619 (GRCm39)		probably null	Het
Ppp1r14a	T	A	7: 28,988,949 (GRCm39)	Y64N	probably damaging	Het
Ppp1r9a	A	T	6: 5,134,804 (GRCm39)	H959L	probably benign	Het
Pramel42	A	T	5: 94,685,524 (GRCm39)	M395L	probably benign	Het
Prmt7	A	G	8: 106,946,642 (GRCm39)	T75A	probably damaging	Het
Prom1	T	C	5: 44,194,816 (GRCm39)	S319G	possibly damaging	Het
Prtg	G	A	9: 72,819,273 (GRCm39)	G1089S	probably benign	Het
Ptprd	T	C	4: 75,978,020 (GRCm39)	D596G	probably benign	Het
Rbm12	C	T	2: 155,937,894 (GRCm39)	G793S	unknown	Het
Rora	A	T	9: 69,104,804 (GRCm39)	R43*	probably null	Het
Sez6	T	C	11: 77,863,963 (GRCm39)	Y482H	probably damaging	Het
Skint2	A	T	4: 112,483,122 (GRCm39)	N176Y	probably damaging	Het
Slc44a2	G	T	9: 21,259,445 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,089,044 (GRCm39)	V606A	possibly damaging	Het
Spa17	T	C	9: 37,514,587 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,252,160 (GRCm39)	L2498R	probably damaging	Het
Synpo2	T	G	3: 122,911,333 (GRCm39)	H104P	probably benign	Het
Tapbp	G	T	17: 34,138,943 (GRCm39)	A46S	probably damaging	Het
Tshz1	T	C	18: 84,032,944 (GRCm39)	D488G	possibly damaging	Het
Ulk1	A	G	5: 110,956,908 (GRCm39)	L70P	probably damaging	Het
Zcchc17	T	A	4: 130,221,116 (GRCm39)	D145V	probably damaging	Het
Zfp318	T	A	17: 46,716,978 (GRCm39)	L1037M	probably damaging	Het
Zfp324	C	T	7: 12,704,524 (GRCm39)	Q238*	probably null	Het
Zfp874a	A	G	13: 67,590,776 (GRCm39)	Y303H	possibly damaging	Het
Zfp975	T	C	7: 42,311,918 (GRCm39)	K232E	probably benign	Het
Zfp982	T	A	4: 147,597,718 (GRCm39)	N358K	probably benign	Het
Zmiz1	C	T	14: 25,650,092 (GRCm39)	P417S	possibly 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
R5566:Tbc1d30	UTSW	10	121,138,015 (GRCm39)	missense	probably damaging	1.00
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
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'- AGACTGGGAGCCATCCTATGAG -3'
(R):5'- GGTTCCCATTTGCTCAGGTC -3'

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

Posted On

2019-06-26