Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01481:Tbc1d22b'

88622

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d22b

Ensembl Gene

ENSMUSG00000042203

Gene Name

TBC1 domain family, member 22B

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL01481

Quality Score

Status

Chromosome

Chromosomal Location

29768765-29825868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29787572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 107 (L107P)

Ref Sequence

ENSEMBL: ENSMUSP00000046877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048677]

AlphaFold

Q80VE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048677
AA Change: L107P

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046877
Gene: ENSMUSG00000042203
AA Change: L107P

Domain	Start	End	E-Value	Type
Blast:TBC	23	93	6e-12	BLAST
TBC	207	460	1.25e-56	SMART
Blast:TBC	464	504	4e-18	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160114

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,910,079 (GRCm39)	S523C	probably damaging	Het
Apaf1	A	T	10: 90,867,450 (GRCm39)	D798E	possibly damaging	Het
Arhgef7	G	T	8: 11,865,256 (GRCm39)	V410L	probably benign	Het
Capn7	T	C	14: 31,077,296 (GRCm39)	L338P	probably damaging	Het
Cldn17	A	G	16: 88,303,471 (GRCm39)	V86A	probably benign	Het
Clec4a2	A	G	6: 123,119,459 (GRCm39)	N237S	probably benign	Het
Cmtr1	T	G	17: 29,917,631 (GRCm39)	I654S	probably benign	Het
Cryzl2	G	A	1: 157,298,309 (GRCm39)		probably null	Het
Ctif	A	G	18: 75,744,855 (GRCm39)		probably benign	Het
Dcaf7	T	A	11: 105,945,572 (GRCm39)	I307N	probably damaging	Het
Drosha	A	T	15: 12,842,525 (GRCm39)	T399S	probably benign	Het
Eef2k	A	T	7: 120,494,441 (GRCm39)	Y35F	probably benign	Het
Emc1	T	C	4: 139,089,410 (GRCm39)	S193P	probably benign	Het
Fpr2	T	C	17: 18,113,025 (GRCm39)	I7T	probably benign	Het
Fras1	C	A	5: 96,805,100 (GRCm39)	N1247K	probably damaging	Het
Gipr	T	C	7: 18,893,431 (GRCm39)		probably benign	Het
Heatr5a	C	T	12: 52,002,208 (GRCm39)	G243S	probably damaging	Het
Hivep2	G	A	10: 14,024,981 (GRCm39)	R2265Q	probably benign	Het
Iars1	T	C	13: 49,882,174 (GRCm39)	S1073P	probably benign	Het
Inpp4b	T	C	8: 82,724,009 (GRCm39)	S514P	probably damaging	Het
Inpp5b	T	A	4: 124,694,492 (GRCm39)		probably null	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Itih5	A	C	2: 10,195,100 (GRCm39)	Q164P	probably damaging	Het
Map3k19	T	A	1: 127,750,215 (GRCm39)	E1045D	probably damaging	Het
Mbd5	T	C	2: 49,168,951 (GRCm39)	V1374A	possibly damaging	Het
Mrps34	T	C	17: 25,116,310 (GRCm39)		probably benign	Het
Nadsyn1	T	C	7: 143,366,321 (GRCm39)	D191G	probably damaging	Het
Nlrc3	T	G	16: 3,781,769 (GRCm39)	N563H	probably damaging	Het
Nlrp4c	T	C	7: 6,103,783 (GRCm39)	C906R	possibly damaging	Het
Or10g6	T	C	9: 39,934,574 (GRCm39)	M295T	possibly damaging	Het
Or1j15	T	A	2: 36,458,754 (GRCm39)	L48H	probably damaging	Het
Or4a79	A	G	2: 89,551,870 (GRCm39)	L195P	probably damaging	Het
Or52u1	C	A	7: 104,237,067 (GRCm39)	P36T	probably damaging	Het
Pdgfd	C	A	9: 6,337,271 (GRCm39)	T195K	probably null	Het
Ptprz1	C	A	6: 22,999,979 (GRCm39)	Q690K	probably benign	Het
Scfd1	T	A	12: 51,430,903 (GRCm39)	M23K	probably damaging	Het
Scn10a	G	A	9: 119,438,260 (GRCm39)	R1869C	probably damaging	Het
Scp2	T	C	4: 107,931,639 (GRCm39)		probably null	Het
Sec61a1	A	G	6: 88,483,829 (GRCm39)	V354A	probably benign	Het
Sgpp1	T	C	12: 75,769,431 (GRCm39)	I246V	probably benign	Het
Slco2a1	G	T	9: 102,947,450 (GRCm39)	D250Y	probably damaging	Het
Slit2	A	G	5: 48,460,273 (GRCm39)	N1435D	probably benign	Het
Sspo	A	G	6: 48,425,449 (GRCm39)	I23M	probably benign	Het
Steap4	A	T	5: 8,026,858 (GRCm39)	T274S	probably damaging	Het
Tiparp	G	T	3: 65,460,030 (GRCm39)	G442*	probably null	Het
Tmem45a2	T	A	16: 56,867,375 (GRCm39)	I109F	probably benign	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Tox	T	A	4: 6,842,396 (GRCm39)	T45S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Wdr7	G	A	18: 63,872,250 (GRCm39)	D395N	probably damaging	Het

Other mutations in Tbc1d22b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01836:Tbc1d22b	APN	17	29,818,932 (GRCm39)	missense	probably damaging	1.00
R1524:Tbc1d22b	UTSW	17	29,789,585 (GRCm39)	missense	probably damaging	0.99
R1681:Tbc1d22b	UTSW	17	29,794,151 (GRCm39)	missense	possibly damaging	0.46
R1757:Tbc1d22b	UTSW	17	29,790,647 (GRCm39)	missense	probably damaging	1.00
R2268:Tbc1d22b	UTSW	17	29,818,828 (GRCm39)	missense	probably damaging	1.00
R5656:Tbc1d22b	UTSW	17	29,813,754 (GRCm39)	missense	probably damaging	1.00
R5832:Tbc1d22b	UTSW	17	29,789,621 (GRCm39)	missense	possibly damaging	0.80
R6892:Tbc1d22b	UTSW	17	29,814,864 (GRCm39)	missense	possibly damaging	0.80
R7095:Tbc1d22b	UTSW	17	29,818,843 (GRCm39)	missense	probably damaging	0.96
R7780:Tbc1d22b	UTSW	17	29,792,040 (GRCm39)	missense	probably benign	0.06
R8121:Tbc1d22b	UTSW	17	29,791,945 (GRCm39)	missense	probably damaging	1.00
R8784:Tbc1d22b	UTSW	17	29,818,918 (GRCm39)	missense	probably damaging	1.00
R8964:Tbc1d22b	UTSW	17	29,819,202 (GRCm39)	missense	probably damaging	1.00
R9641:Tbc1d22b	UTSW	17	29,813,747 (GRCm39)	missense	possibly damaging	0.83

Posted On

2013-11-18