Mutagenetix > Incidental Mutation

Incidental Mutation 'R0375:Tbc1d31'

30710

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d31

Ensembl Gene

ENSMUSG00000022364

Gene Name

TBC1 domain family, member 31

Synonyms

LOC210544, Wdr67, D330013L20Rik

MMRRC Submission

038581-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57912199-57970067 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57955350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 783 (L783H)

Ref Sequence

ENSEMBL: ENSMUSP00000022992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022992]

AlphaFold

Q6NXY1

Predicted Effect

probably benign
Transcript: ENSMUST00000022992
AA Change: L783H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: L783H

Domain	Start	End	E-Value	Type
WD40	39	70	3.3e1	SMART
WD40	72	112	7.64e1	SMART
WD40	115	153	1.42e-4	SMART
WD40	156	196	1.03e1	SMART
WD40	199	242	6.6e1	SMART
Blast:WD40	245	292	8e-23	BLAST
WD40	295	334	2.48e0	SMART
Pfam:RabGAP-TBC	427	619	9.5e-11	PFAM
coiled coil region	699	844	N/A	INTRINSIC
low complexity region	893	906	N/A	INTRINSIC
low complexity region	974	985	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160098

Predicted Effect

probably benign
Transcript: ENSMUST00000161329

SMART Domains

Protein: ENSMUSP00000124466
Gene: ENSMUSG00000022364

Domain	Start	End	E-Value	Type
coiled coil region	97	124	N/A	INTRINSIC
low complexity region	131	144	N/A	INTRINSIC
low complexity region	212	223	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162157

Meta Mutation Damage Score

0.0705

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,046,252	T4707I	probably damaging	Het
5730522E02Rik	T	A	11: 25,769,092	Y17F	unknown	Het
Aars2	A	G	17: 45,514,550	D313G	probably damaging	Het
Abca9	A	T	11: 110,115,447	D1277E	probably benign	Het
Adgrl1	G	T	8: 83,934,901	A981S	probably damaging	Het
Aff3	T	G	1: 38,204,940	K917Q	possibly damaging	Het
BC049715	A	T	6: 136,839,996	H78L	probably benign	Het
Cacna1g	C	A	11: 94,411,054	A2027S	possibly damaging	Het
Camk1g	G	A	1: 193,356,401		probably benign	Het
Carf	T	C	1: 60,144,002	V386A	probably damaging	Het
Cd46	A	G	1: 195,086,164	S82P	probably benign	Het
Clic5	A	G	17: 44,270,623	E180G	possibly damaging	Het
Col27a1	A	G	4: 63,225,661	T529A	probably benign	Het
Col7a1	C	T	9: 108,980,237	R2627C	unknown	Het
Cuzd1	G	A	7: 131,311,908		probably benign	Het
Cwc27	T	C	13: 104,807,823	D50G	possibly damaging	Het
Dhx38	A	G	8: 109,555,181	V735A	possibly damaging	Het
Dhx57	T	G	17: 80,258,121	E834A	probably damaging	Het
Dsg4	A	G	18: 20,470,879	D801G	probably damaging	Het
Dtx1	T	C	5: 120,681,399	E578G	probably damaging	Het
F830016B08Rik	A	T	18: 60,300,193	H116L	probably damaging	Het
Fam208b	A	G	13: 3,596,842	V61A	possibly damaging	Het
Fbxw18	T	C	9: 109,688,839	I360V	possibly damaging	Het
Fignl2	G	A	15: 101,054,093	P103S	probably benign	Het
Frmpd1	A	G	4: 45,284,196	T1006A	probably benign	Het
Ggnbp2	G	T	11: 84,836,374	C545*	probably null	Het
Gm3336	A	G	8: 70,718,645		probably benign	Het
Gpr37	T	C	6: 25,669,291	N518S	probably benign	Het
Hbs1l	T	A	10: 21,342,541	D312E	possibly damaging	Het
Hoxd10	C	A	2: 74,692,720	S247R	probably benign	Het
Ifnb1	A	T	4: 88,522,744	F11I	probably benign	Het
Marf1	T	C	16: 14,151,320		probably benign	Het
Myo1f	T	A	17: 33,601,956	V879E	probably benign	Het
Naip1	A	G	13: 100,409,148	F1291L	probably benign	Het
Nckap1l	A	G	15: 103,474,159	E529G	probably damaging	Het
Npm3	T	C	19: 45,748,229	E157G	probably damaging	Het
Olfr1200	T	A	2: 88,767,641	T225S	possibly damaging	Het
Olfr1240	G	T	2: 89,439,396	N294K	probably benign	Het
Olfr248	A	G	1: 174,391,209	T47A	probably damaging	Het
Pex16	G	A	2: 92,380,457	G312D	probably damaging	Het
Ppp6r1	A	G	7: 4,633,287	V768A	probably benign	Het
Prrc1	A	G	18: 57,362,492	T14A	probably damaging	Het
Ranbp2	T	C	10: 58,477,283	L1275P	probably damaging	Het
Rnf214	C	A	9: 45,899,823	V181F	probably damaging	Het
Ror2	T	C	13: 53,132,004	N58S	probably damaging	Het
Selplg	G	A	5: 113,820,008	T79I	probably damaging	Het
Setd1b	G	A	5: 123,157,437	G1023S	unknown	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Skint5	A	G	4: 113,705,596	V803A	unknown	Het
Slc25a46	T	C	18: 31,583,266	I394M	possibly damaging	Het
Snrnp27	A	T	6: 86,680,953	I101K	possibly damaging	Het
Spag17	C	A	3: 100,027,590	T704K	probably benign	Het
Tas2r144	T	A	6: 42,216,124	M266K	possibly damaging	Het
Tbck	C	A	3: 132,751,232		probably benign	Het
Vcan	A	G	13: 89,691,275	V2050A	probably damaging	Het
Vmn1r70	T	A	7: 10,634,060	N158K	probably damaging	Het
Vmn2r103	T	A	17: 19,792,859	Y81N	probably benign	Het
Vmn2r103	A	G	17: 19,793,464	T173A	probably benign	Het
Ylpm1	T	G	12: 85,014,980	S552A	unknown	Het
Zdhhc17	A	T	10: 110,982,106	Y58*	probably null	Het

Other mutations in Tbc1d31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Tbc1d31	APN	15	57940768	missense	probably benign	0.03
IGL01955:Tbc1d31	APN	15	57942370	missense	probably benign	0.24
IGL02024:Tbc1d31	APN	15	57919942	missense	probably benign	0.10
IGL02501:Tbc1d31	APN	15	57937948	missense	probably benign	0.11
IGL03133:Tbc1d31	APN	15	57942459	splice site	probably benign
IGL03159:Tbc1d31	APN	15	57920048	critical splice donor site	probably null
new_age	UTSW	15	57951706	missense	probably damaging	1.00
PIT4354001:Tbc1d31	UTSW	15	57967933	missense	probably benign	0.09
R0239:Tbc1d31	UTSW	15	57940753	missense	probably benign	0.14
R0239:Tbc1d31	UTSW	15	57940753	missense	probably benign	0.14
R0478:Tbc1d31	UTSW	15	57932536	missense	probably damaging	1.00
R0576:Tbc1d31	UTSW	15	57969724	missense	possibly damaging	0.79
R1328:Tbc1d31	UTSW	15	57942463	splice site	probably benign
R1454:Tbc1d31	UTSW	15	57951638	nonsense	probably null
R1784:Tbc1d31	UTSW	15	57963920	missense	possibly damaging	0.86
R1874:Tbc1d31	UTSW	15	57916110	missense	probably benign	0.41
R1920:Tbc1d31	UTSW	15	57912364	missense	probably damaging	1.00
R2111:Tbc1d31	UTSW	15	57932644	missense	probably benign	0.05
R2174:Tbc1d31	UTSW	15	57951741	missense	possibly damaging	0.95
R2205:Tbc1d31	UTSW	15	57953520	missense	probably benign	0.11
R3683:Tbc1d31	UTSW	15	57951814	critical splice donor site	probably null
R3825:Tbc1d31	UTSW	15	57916078	missense	probably benign	0.43
R4407:Tbc1d31	UTSW	15	57920042	missense	possibly damaging	0.93
R4627:Tbc1d31	UTSW	15	57967912	missense	probably benign
R4792:Tbc1d31	UTSW	15	57940728	missense	probably benign	0.03
R4804:Tbc1d31	UTSW	15	57951106	nonsense	probably null
R4909:Tbc1d31	UTSW	15	57962265	critical splice donor site	probably null
R5077:Tbc1d31	UTSW	15	57955401	missense	probably benign	0.00
R5230:Tbc1d31	UTSW	15	57960919	missense	probably damaging	0.99
R5436:Tbc1d31	UTSW	15	57952871	missense	probably benign	0.04
R5652:Tbc1d31	UTSW	15	57951666	missense	probably damaging	1.00
R5920:Tbc1d31	UTSW	15	57942558	missense	probably benign	0.10
R6102:Tbc1d31	UTSW	15	57936093	missense	probably damaging	1.00
R6176:Tbc1d31	UTSW	15	57952796	missense	probably damaging	0.99
R6513:Tbc1d31	UTSW	15	57955382	missense	probably damaging	1.00
R6778:Tbc1d31	UTSW	15	57938029	missense	probably damaging	1.00
R6795:Tbc1d31	UTSW	15	57951706	missense	probably damaging	1.00
R7187:Tbc1d31	UTSW	15	57938063	missense	possibly damaging	0.95
R7308:Tbc1d31	UTSW	15	57952816	missense	probably damaging	1.00
R7359:Tbc1d31	UTSW	15	57916108	missense	probably benign	0.00
R7453:Tbc1d31	UTSW	15	57950995	missense	probably damaging	1.00
R7552:Tbc1d31	UTSW	15	57940740	missense	probably benign
R7606:Tbc1d31	UTSW	15	57951670	missense	probably damaging	1.00
R7739:Tbc1d31	UTSW	15	57936098	nonsense	probably null
R7782:Tbc1d31	UTSW	15	57958368	missense	possibly damaging	0.89
R8165:Tbc1d31	UTSW	15	57960949	missense	possibly damaging	0.74
R9187:Tbc1d31	UTSW	15	57916089	missense	probably damaging	1.00
R9558:Tbc1d31	UTSW	15	57932592	missense	probably damaging	0.99
R9796:Tbc1d31	UTSW	15	57969783	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACAGCACAGGCAACTCAGTGG -3'
(R):5'- AGACACCTCAGCTTTAGAAATGCGG -3'

Sequencing Primer
(F):5'- GCAACTCAGTGGAAAAAAAAGAAATC -3'
(R):5'- CCGGATGTTCTATGCTGGAAAC -3'

Posted On

2013-04-24