Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03159:Tbc1d31'

411361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d31

Ensembl Gene

ENSMUSG00000022364

Gene Name

TBC1 domain family, member 31

Synonyms

Wdr67, LOC210544, D330013L20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03159

Quality Score

Status

Chromosome

Chromosomal Location

57775595-57833463 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 57783444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022992] [ENSMUST00000159775]

AlphaFold

Q6NXY1

Predicted Effect

probably null
Transcript: ENSMUST00000022992

SMART Domains

Protein: ENSMUSP00000022992
Gene: ENSMUSG00000022364

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

probably benign
Transcript: ENSMUST00000159775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162157

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	A	13: 104,580,723 (GRCm39)	M812K	probably damaging	Het
Ctnnal1	G	A	4: 56,844,599 (GRCm39)	R122W	probably benign	Het
Cyp2j7	A	G	4: 96,115,749 (GRCm39)		probably benign	Het
Defa29	A	G	8: 21,816,978 (GRCm39)	V5A	possibly damaging	Het
Defb22	A	G	2: 152,331,995 (GRCm39)	F13L	probably benign	Het
Gmds	C	A	13: 32,003,934 (GRCm39)	D362Y	probably damaging	Het
Gtf2h1	T	C	7: 46,456,167 (GRCm39)	V179A	possibly damaging	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Kcnk7	T	C	19: 5,756,116 (GRCm39)	L114P	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lrrc37	T	A	11: 103,495,328 (GRCm39)		probably benign	Het
Mfsd3	A	G	15: 76,587,101 (GRCm39)	T285A	probably benign	Het
Or5g27	A	G	2: 85,410,284 (GRCm39)	R234G	probably damaging	Het
Prrc2b	T	C	2: 32,084,498 (GRCm39)	M321T	probably damaging	Het
Sf3b1	A	T	1: 55,051,372 (GRCm39)	N185K	probably benign	Het
Smo	A	G	6: 29,758,504 (GRCm39)	R550G	probably benign	Het
Uck1	G	A	2: 32,148,334 (GRCm39)	R161C	probably benign	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het
Vmn2r72	A	T	7: 85,404,162 (GRCm39)	F10I	probably benign	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
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
R4804:Tbc1d31	UTSW	15	57,814,502 (GRCm39)	nonsense	probably null
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

Posted On

2016-08-02