Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03133:Tbc1d31'

410422

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 #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

57775595-57833463 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 57805855 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022992 (fasta)

Gene Model

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

AlphaFold

Q6NXY1

Predicted Effect

probably benign
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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,161,730 (GRCm39)		probably benign	Het
Ano5	C	T	7: 51,226,260 (GRCm39)	R505*	probably null	Het
Asphd1	A	G	7: 126,547,452 (GRCm39)	C284R	possibly damaging	Het
Cep192	T	A	18: 67,943,176 (GRCm39)	W158R	probably benign	Het
Ces2h	T	A	8: 105,743,411 (GRCm39)	D188E	probably damaging	Het
Dab1	G	A	4: 104,584,777 (GRCm39)	V306I	probably benign	Het
Dcc	A	G	18: 71,396,026 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,072,726 (GRCm39)		probably null	Het
Dmwd	T	A	7: 18,810,562 (GRCm39)	V123D	probably damaging	Het
Eno1	A	G	4: 150,329,801 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,176,869 (GRCm39)	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,296,699 (GRCm39)	S274P	probably benign	Het
Gmpr	T	C	13: 45,670,494 (GRCm39)	V72A	probably benign	Het
Kank2	T	C	9: 21,706,937 (GRCm39)	E27G	probably null	Het
Mtor	G	T	4: 148,568,776 (GRCm39)	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,226,244 (GRCm39)	I763V	probably benign	Het
Or5m10	G	T	2: 85,717,478 (GRCm39)	E111D	probably damaging	Het
Or5p63	G	T	7: 107,811,594 (GRCm39)	S47R	possibly damaging	Het
Or8b12i	T	A	9: 20,082,009 (GRCm39)	N286I	probably damaging	Het
Or8k27	A	G	2: 86,276,002 (GRCm39)	I108T	probably damaging	Het
Piwil1	C	A	5: 128,819,093 (GRCm39)	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576 (GRCm39)	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,182,799 (GRCm39)	Y114H	probably benign	Het
Stx7	A	T	10: 24,060,936 (GRCm39)	N221I	probably damaging	Het
Ubxn7	T	G	16: 32,200,599 (GRCm39)	L393R	probably damaging	Het
Vit	A	T	17: 78,873,500 (GRCm39)	M59L	probably benign	Het
Vmn1r5	T	A	6: 56,962,600 (GRCm39)	C92S	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
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
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