Mutagenetix > Incidental Mutation

Incidental Mutation 'R4804:Tbc1d31'

430209

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d31

Ensembl Gene

ENSMUSG00000022364

Gene Name

TBC1 domain family, member 31

Synonyms

Wdr67, LOC210544, D330013L20Rik

MMRRC Submission

041998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4804 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57775595-57833463 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 57814502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 568 (Q568*)

Ref Sequence

ENSEMBL: ENSMUSP00000022992 (fasta)

Gene Model

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

AlphaFold

Q6NXY1

Predicted Effect

probably null
Transcript: ENSMUST00000022992
AA Change: Q568*

SMART Domains

Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364
AA Change: Q568*

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

noncoding transcript
Transcript: ENSMUST00000162157

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930527J03Rik	T	C	1: 178,103,675 (GRCm39)		noncoding transcript	Het
Ap4e1	T	C	2: 126,885,678 (GRCm39)		probably null	Het
Apbb1ip	T	C	2: 22,713,610 (GRCm39)		probably null	Het
Apol11b	T	A	15: 77,519,466 (GRCm39)	I205F	probably damaging	Het
Arl6ip1	A	T	7: 117,728,775 (GRCm39)		probably null	Het
Barx2	A	G	9: 31,758,108 (GRCm39)	S277P	unknown	Het
BC035947	T	G	1: 78,474,513 (GRCm39)	D673A	probably damaging	Het
Cacna2d1	A	T	5: 16,564,206 (GRCm39)	I930F	probably damaging	Het
Cd226	T	C	18: 89,225,292 (GRCm39)	V63A	possibly damaging	Het
Cdk8	A	G	5: 146,233,209 (GRCm39)	K236E	probably damaging	Het
Cds1	T	C	5: 101,969,389 (GRCm39)	L449P	probably damaging	Het
Celsr1	T	C	15: 85,822,154 (GRCm39)	D1721G	possibly damaging	Het
Chtf18	T	C	17: 25,938,231 (GRCm39)	D934G	probably benign	Het
Clk4	T	A	11: 51,172,150 (GRCm39)	L271Q	probably damaging	Het
Cnnm1	C	A	19: 43,480,014 (GRCm39)	T853N	probably benign	Het
Col26a1	A	G	5: 136,865,579 (GRCm39)	V103A	probably damaging	Het
D5Ertd579e	C	T	5: 36,786,996 (GRCm39)		probably null	Het
Ddx39a	A	G	8: 84,447,724 (GRCm39)	K190E	probably damaging	Het
Dgkg	G	A	16: 22,393,943 (GRCm39)		probably benign	Het
Dnajc14	A	T	10: 128,649,926 (GRCm39)	H477L	probably benign	Het
Dytn	A	G	1: 63,682,525 (GRCm39)	V374A	probably benign	Het
Gfra2	T	C	14: 71,163,361 (GRCm39)	Y215H	possibly damaging	Het
Grik1	A	G	16: 87,754,457 (GRCm39)	I376T	probably damaging	Het
Gzmm	A	T	10: 79,530,890 (GRCm39)	T231S	probably benign	Het
Hecw1	A	G	13: 14,480,570 (GRCm39)	S499P	probably benign	Het
Hhla1	T	C	15: 65,794,948 (GRCm39)	I511V	probably benign	Het
Ifnlr1	A	G	4: 135,432,647 (GRCm39)	D361G	possibly damaging	Het
Ikzf3	A	G	11: 98,381,400 (GRCm39)	V60A	probably benign	Het
Ipo4	G	C	14: 55,868,313 (GRCm39)	R495G	possibly damaging	Het
Kat2b-ps	A	T	5: 93,540,392 (GRCm39)		noncoding transcript	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Mblac2	T	A	13: 81,898,428 (GRCm39)	L268*	probably null	Het
Mipep	C	T	14: 61,040,401 (GRCm39)	T307I	probably damaging	Het
Ms4a14	A	G	19: 11,281,404 (GRCm39)	S385P	possibly damaging	Het
Myh2	T	A	11: 67,077,328 (GRCm39)	I821N	possibly damaging	Het
Myo5c	A	T	9: 75,152,306 (GRCm39)	I65F	probably damaging	Het
Neurog1	A	G	13: 56,399,579 (GRCm39)	L56P	probably benign	Het
Nrsn1	C	A	13: 25,437,580 (GRCm39)	C116F	probably benign	Het
Nscme3l	A	T	19: 5,553,028 (GRCm39)	M251K	possibly damaging	Het
Nynrin	T	C	14: 56,102,326 (GRCm39)	V665A	probably benign	Het
Or10w1	A	G	19: 13,631,882 (GRCm39)	M30V	probably benign	Het
Or2w1b	T	A	13: 21,300,175 (GRCm39)	Y104*	probably null	Het
Or5ak20	T	C	2: 85,183,425 (GRCm39)	I282V	probably benign	Het
Pakap	T	C	4: 57,854,688 (GRCm39)	S67P	probably benign	Het
Pcdhac1	C	T	18: 37,224,231 (GRCm39)	S348L	possibly damaging	Het
Pcnx4	T	C	12: 72,620,976 (GRCm39)	I932T	probably benign	Het
Pfkl	G	A	10: 77,827,228 (GRCm39)	T486I	probably benign	Het
Pi4ka	A	T	16: 17,126,025 (GRCm39)	M1115K	possibly damaging	Het
Rilpl1	A	G	5: 124,631,828 (GRCm39)	W173R	probably damaging	Het
Rnf111	A	T	9: 70,338,239 (GRCm39)	C900S	possibly damaging	Het
Ryr2	A	G	13: 11,731,983 (GRCm39)	V2319A	probably damaging	Het
Scnn1g	AATCCTGCAGGTGA	AA	7: 121,362,303 (GRCm39)		probably null	Het
Slc25a13	A	T	6: 6,109,213 (GRCm39)	L383H	probably damaging	Het
Slco2a1	C	T	9: 102,950,383 (GRCm39)	P325L	probably damaging	Het
Stoml2	T	C	4: 43,029,882 (GRCm39)	N162S	probably benign	Het
Syne1	G	T	10: 5,299,310 (GRCm39)	Q982K	possibly damaging	Het
Tbc1d9	G	A	8: 83,982,554 (GRCm39)		probably null	Het
Tbx3	A	G	5: 119,818,577 (GRCm39)	D384G	possibly damaging	Het
Tecta	T	C	9: 42,309,533 (GRCm39)	I14V	probably benign	Het
Tgm1	A	T	14: 55,943,076 (GRCm39)	V588E	probably benign	Het
Tpk1	A	C	6: 43,570,012 (GRCm39)		probably benign	Het
Tspear	A	T	10: 77,612,791 (GRCm39)		probably null	Het
Ubxn10	G	T	4: 138,448,515 (GRCm39)	Q54K	possibly damaging	Het
Ubxn4	C	T	1: 128,194,141 (GRCm39)	R312*	probably null	Het
Vmn1r230	A	T	17: 21,067,345 (GRCm39)	K178M	probably damaging	Het
Zfp143	G	A	7: 109,687,976 (GRCm39)	V445I	probably damaging	Het
Zfp688	C	A	7: 127,021,057 (GRCm39)	W40C	probably damaging	Het

Other mutations in Tbc1d31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01433:Tbc1d31	APN	15	57,804,164 (GRCm39)	missense	probably benign	0.03
IGL01955:Tbc1d31	APN	15	57,805,766 (GRCm39)	missense	probably benign	0.24
IGL02024:Tbc1d31	APN	15	57,783,338 (GRCm39)	missense	probably benign	0.10
IGL02501:Tbc1d31	APN	15	57,801,344 (GRCm39)	missense	probably benign	0.11
IGL03133:Tbc1d31	APN	15	57,805,855 (GRCm39)	splice site	probably benign
IGL03159:Tbc1d31	APN	15	57,783,444 (GRCm39)	critical splice donor site	probably null
new_age	UTSW	15	57,815,102 (GRCm39)	missense	probably damaging	1.00
PIT4354001:Tbc1d31	UTSW	15	57,831,329 (GRCm39)	missense	probably benign	0.09
R0239:Tbc1d31	UTSW	15	57,804,149 (GRCm39)	missense	probably benign	0.14
R0239:Tbc1d31	UTSW	15	57,804,149 (GRCm39)	missense	probably benign	0.14
R0375:Tbc1d31	UTSW	15	57,818,746 (GRCm39)	missense	probably benign
R0478:Tbc1d31	UTSW	15	57,795,932 (GRCm39)	missense	probably damaging	1.00
R0576:Tbc1d31	UTSW	15	57,833,120 (GRCm39)	missense	possibly damaging	0.79
R1328:Tbc1d31	UTSW	15	57,805,859 (GRCm39)	splice site	probably benign
R1454:Tbc1d31	UTSW	15	57,815,034 (GRCm39)	nonsense	probably null
R1784:Tbc1d31	UTSW	15	57,827,316 (GRCm39)	missense	possibly damaging	0.86
R1874:Tbc1d31	UTSW	15	57,779,506 (GRCm39)	missense	probably benign	0.41
R1920:Tbc1d31	UTSW	15	57,775,760 (GRCm39)	missense	probably damaging	1.00
R2111:Tbc1d31	UTSW	15	57,796,040 (GRCm39)	missense	probably benign	0.05
R2174:Tbc1d31	UTSW	15	57,815,137 (GRCm39)	missense	possibly damaging	0.95
R2205:Tbc1d31	UTSW	15	57,816,916 (GRCm39)	missense	probably benign	0.11
R3683:Tbc1d31	UTSW	15	57,815,210 (GRCm39)	critical splice donor site	probably null
R3825:Tbc1d31	UTSW	15	57,779,474 (GRCm39)	missense	probably benign	0.43
R4407:Tbc1d31	UTSW	15	57,783,438 (GRCm39)	missense	possibly damaging	0.93
R4627:Tbc1d31	UTSW	15	57,831,308 (GRCm39)	missense	probably benign
R4792:Tbc1d31	UTSW	15	57,804,124 (GRCm39)	missense	probably benign	0.03
R4909:Tbc1d31	UTSW	15	57,825,661 (GRCm39)	critical splice donor site	probably null
R5077:Tbc1d31	UTSW	15	57,818,797 (GRCm39)	missense	probably benign	0.00
R5230:Tbc1d31	UTSW	15	57,824,315 (GRCm39)	missense	probably damaging	0.99
R5436:Tbc1d31	UTSW	15	57,816,267 (GRCm39)	missense	probably benign	0.04
R5652:Tbc1d31	UTSW	15	57,815,062 (GRCm39)	missense	probably damaging	1.00
R5920:Tbc1d31	UTSW	15	57,805,954 (GRCm39)	missense	probably benign	0.10
R6102:Tbc1d31	UTSW	15	57,799,489 (GRCm39)	missense	probably damaging	1.00
R6176:Tbc1d31	UTSW	15	57,816,192 (GRCm39)	missense	probably damaging	0.99
R6513:Tbc1d31	UTSW	15	57,818,778 (GRCm39)	missense	probably damaging	1.00
R6778:Tbc1d31	UTSW	15	57,801,425 (GRCm39)	missense	probably damaging	1.00
R6795:Tbc1d31	UTSW	15	57,815,102 (GRCm39)	missense	probably damaging	1.00
R7187:Tbc1d31	UTSW	15	57,801,459 (GRCm39)	missense	possibly damaging	0.95
R7308:Tbc1d31	UTSW	15	57,816,212 (GRCm39)	missense	probably damaging	1.00
R7359:Tbc1d31	UTSW	15	57,779,504 (GRCm39)	missense	probably benign	0.00
R7453:Tbc1d31	UTSW	15	57,814,391 (GRCm39)	missense	probably damaging	1.00
R7552:Tbc1d31	UTSW	15	57,804,136 (GRCm39)	missense	probably benign
R7606:Tbc1d31	UTSW	15	57,815,066 (GRCm39)	missense	probably damaging	1.00
R7739:Tbc1d31	UTSW	15	57,799,494 (GRCm39)	nonsense	probably null
R7782:Tbc1d31	UTSW	15	57,821,764 (GRCm39)	missense	possibly damaging	0.89
R8165:Tbc1d31	UTSW	15	57,824,345 (GRCm39)	missense	possibly damaging	0.74
R9187:Tbc1d31	UTSW	15	57,779,485 (GRCm39)	missense	probably damaging	1.00
R9558:Tbc1d31	UTSW	15	57,795,988 (GRCm39)	missense	probably damaging	0.99
R9796:Tbc1d31	UTSW	15	57,833,179 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACATTGTGACTGTAGAAATTCCGTC -3'
(R):5'- ATGACTTGAGTGTAAGCCCTG -3'

Sequencing Primer
(F):5'- TGTGACTGTAGAAATTCCGTCTATAG -3'
(R):5'- TTGAGTGTAAGCCCTGCACAC -3'

Posted On

2016-09-16