Mutagenetix > Incidental Mutations

Incidental Mutation 'R5170:Tbc1d30'

397512

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d30

Ensembl Gene

ENSMUSG00000052302

Gene Name

TBC1 domain family, member 30

Synonyms

4930505D03Rik

MMRRC Submission

042750-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5170 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121263820-121351278 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121306838 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 158 (Q158R)

Ref Sequence

ENSEMBL: ENSMUSP00000151922 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000064107
AA Change: Q68R

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070488
Gene: ENSMUSG00000052302
AA Change: Q68R

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

possibly damaging
Transcript: ENSMUST00000219179
AA Change: Q158R

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,588,625	I51V	probably benign	Het
Agbl2	A	G	2: 90,803,197	K559R	probably benign	Het
Arhgap30	A	G	1: 171,408,050	D664G	probably benign	Het
BC034090	A	G	1: 155,213,650	V798A	probably damaging	Het
Bdp1	A	T	13: 100,030,794	C2237*	probably null	Het
C3	C	T	17: 57,223,938	V388M	probably damaging	Het
Ccdc170	G	A	10: 4,514,200	E60K	probably damaging	Het
Cdh8	G	A	8: 99,279,550	T135M	probably damaging	Het
Cep131	G	T	11: 120,070,609	A572E	probably damaging	Het
Clec16a	A	G	16: 10,741,791	Y976C	probably benign	Het
Dmpk	C	G	7: 19,088,019	L301V	probably benign	Het
Eno3	A	G	11: 70,662,214	I393V	probably benign	Het
Fbxo47	A	G	11: 97,857,694	V305A	probably benign	Het
Fry	G	A	5: 150,429,854	V1779M	probably benign	Het
Gm15293	A	T	8: 21,201,680	D26V	probably damaging	Het
Gtse1	T	C	15: 85,864,264		probably null	Het
Gucy2e	A	T	11: 69,235,570	L328Q	probably damaging	Het
Ifi207	T	C	1: 173,730,498	T225A	unknown	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Lamc3	A	T	2: 31,887,344	M1L	probably benign	Het
Lman1l	G	A	9: 57,615,619	R153*	probably null	Het
Myo16	A	G	8: 10,569,745	D1432G	probably benign	Het
Nwd2	A	T	5: 63,806,037	N988I	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Parp14	T	C	16: 35,857,279	E773G	probably benign	Het
Psen1	T	A	12: 83,714,862	M146K	probably damaging	Het
Ptx4	G	A	17: 25,123,178	R209Q	probably benign	Het
Slc13a2	T	C	11: 78,400,808	T340A	probably damaging	Het
St8sia1	T	C	6: 142,963,708	K21E	probably damaging	Het
Stxbp1	T	C	2: 32,794,674	D581G	probably benign	Het
Sumo2	G	A	11: 115,534,660		probably benign	Het
Supt5	G	A	7: 28,316,083	P910S	probably benign	Het
Tenm2	T	A	11: 36,024,806	H1968L	probably damaging	Het
Trmt1	T	C	8: 84,695,232	Y220H	probably damaging	Het
Trp73	C	T	4: 154,104,838	E60K	possibly damaging	Het
Ttn	A	G	2: 76,787,069	Y8026H	probably damaging	Het
Zar1l	A	G	5: 150,517,585		probably null	Het
Zfp740	T	C	15: 102,209,205	Y117H	probably damaging	Het
Zfp941	G	A	7: 140,812,957		probably benign	Het
Zp1	C	A	19: 10,920,554	V8F	possibly 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
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
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'- GGCTTTCTCCATCTTGGCAT -3'
(R):5'- ACTCCATTTTATTGTCTTAGGTCAC -3'

Sequencing Primer
(F):5'- TCCTTCAGCGATGAACAGTG -3'
(R):5'- CAGTAGAACTGAGTGTTGAATT -3'

Posted On

2016-07-06