Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02543:Tbc1d22a'

298281

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d22a

Ensembl Gene

ENSMUSG00000051864

Gene Name

TBC1 domain family, member 22a

Synonyms

D15Ertd781e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02543

Quality Score

Status

Chromosome

Chromosomal Location

86214459-86498503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86239171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 135 (A135V)

Ref Sequence

ENSEMBL: ENSMUSP00000155727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063414] [ENSMUST00000229242]

AlphaFold

Q8R5A6

Predicted Effect

probably benign
Transcript: ENSMUST00000063414
AA Change: A171V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: A171V

Domain	Start	End	E-Value	Type
Blast:TBC	25	94	5e-34	BLAST
low complexity region	118	133	N/A	INTRINSIC
TBC	218	471	2.35e-43	SMART
Blast:TBC	476	515	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000229242
AA Change: A135V

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	T	19: 31,918,095	A193S	probably damaging	Het
Adcy4	T	C	14: 55,769,170	T1069A	probably benign	Het
Arg2	A	T	12: 79,150,759	I184F	probably benign	Het
Asb18	G	A	1: 90,014,391	P63S	probably damaging	Het
Cd163l1	A	G	7: 140,220,578	M91V	probably benign	Het
Cep85	T	C	4: 134,156,323	H85R	possibly damaging	Het
Chfr	A	G	5: 110,143,547		probably null	Het
Cog2	A	G	8: 124,529,959	N148S	probably benign	Het
Csgalnact1	T	C	8: 68,461,068	T162A	probably damaging	Het
Ddi1	C	T	9: 6,266,183	G62D	possibly damaging	Het
Dhx33	T	C	11: 70,987,240	Y435C	probably damaging	Het
Dsc3	A	T	18: 19,965,828	C765S	probably benign	Het
Egfem1	T	A	3: 29,668,380	D362E	probably benign	Het
Gm10093	A	G	17: 78,491,874	E98G	probably damaging	Het
Gm28040	A	T	1: 133,319,331	I26F	possibly damaging	Het
Gm28778	T	C	1: 53,299,043	M22T	probably benign	Het
Hipk2	A	G	6: 38,703,501	I968T	possibly damaging	Het
Hlx	T	G	1: 184,730,751	S235R	probably damaging	Het
Jag1	T	C	2: 137,091,947		probably benign	Het
Kdr	A	G	5: 75,964,947		probably benign	Het
Klhl3	T	C	13: 58,018,871	E435G	probably damaging	Het
L3mbtl4	T	C	17: 68,461,612		probably benign	Het
Large1	T	A	8: 73,048,414	M223L	probably benign	Het
Lrp1b	T	C	2: 40,870,401	K2838E	possibly damaging	Het
Ncan	T	C	8: 70,108,571	D582G	probably benign	Het
Nedd9	T	C	13: 41,316,735	D314G	probably damaging	Het
Nip7	T	C	8: 107,058,193		probably benign	Het
Olfr1408	T	G	1: 173,130,334	K294N	probably damaging	Het
Olfr629	A	T	7: 103,740,503	C246S	possibly damaging	Het
Olfr8	C	A	10: 78,955,939	H245N	probably damaging	Het
P3h1	T	C	4: 119,237,856		probably benign	Het
Pcp4l1	C	T	1: 171,175,564		probably benign	Het
Plekhm2	C	T	4: 141,642,019	G118D	probably benign	Het
Prkg1	T	C	19: 30,624,734	D374G	possibly damaging	Het
Ptcd1	A	G	5: 145,154,687	L534P	possibly damaging	Het
Rnf123	A	G	9: 108,066,348	S563P	probably damaging	Het
Sdk2	A	T	11: 113,868,921	I418N	possibly damaging	Het
Slc26a4	A	G	12: 31,528,689	I655T	possibly damaging	Het
Syne1	T	C	10: 5,043,618	K524R	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tenm3	A	C	8: 48,298,956	W942G	probably damaging	Het
Thsd7b	G	A	1: 130,165,103	V1247I	probably benign	Het
Treml1	A	G	17: 48,360,431	T115A	possibly damaging	Het
Ttn	T	C	2: 76,709,962	T34227A	probably benign	Het
Ugt2b38	T	A	5: 87,423,483	D230V	probably benign	Het
Vmn1r203	G	A	13: 22,524,904	G285D	probably damaging	Het
Vmn2r76	A	G	7: 86,230,148	S315P	probably benign	Het
Vmn2r98	T	G	17: 19,065,821	S194A	probably benign	Het
Wdr1	G	A	5: 38,545,822	S137F	probably damaging	Het
Wnt7b	C	T	15: 85,558,896		probably benign	Het
Zfp668	A	T	7: 127,868,322	C27*	probably null	Het

Other mutations in Tbc1d22a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Tbc1d22a	APN	15	86301555	missense	probably damaging	1.00
IGL01483:Tbc1d22a	APN	15	86391203	missense	probably benign	0.24
IGL02137:Tbc1d22a	APN	15	86299669	missense	probably benign	0.02
R0138:Tbc1d22a	UTSW	15	86299684	missense	probably damaging	1.00
R1168:Tbc1d22a	UTSW	15	86292134	missense	probably benign	0.01
R1294:Tbc1d22a	UTSW	15	86496826	missense	probably damaging	0.98
R1565:Tbc1d22a	UTSW	15	86235569	missense	possibly damaging	0.48
R1586:Tbc1d22a	UTSW	15	86351651	splice site	probably null
R1703:Tbc1d22a	UTSW	15	86239215	missense	probably benign	0.09
R1822:Tbc1d22a	UTSW	15	86235569	missense	possibly damaging	0.48
R1823:Tbc1d22a	UTSW	15	86235569	missense	possibly damaging	0.48
R1824:Tbc1d22a	UTSW	15	86235569	missense	possibly damaging	0.48
R1925:Tbc1d22a	UTSW	15	86239149	missense	probably damaging	1.00
R2014:Tbc1d22a	UTSW	15	86299684	missense	probably damaging	0.99
R2015:Tbc1d22a	UTSW	15	86299684	missense	probably damaging	0.99
R2035:Tbc1d22a	UTSW	15	86391065	splice site	probably null
R4380:Tbc1d22a	UTSW	15	86351734	missense	probably damaging	1.00
R4616:Tbc1d22a	UTSW	15	86235685	missense	probably damaging	1.00
R4690:Tbc1d22a	UTSW	15	86311836	missense	probably damaging	1.00
R4825:Tbc1d22a	UTSW	15	86351734	missense	probably damaging	1.00
R4883:Tbc1d22a	UTSW	15	86496916	missense	possibly damaging	0.91
R4920:Tbc1d22a	UTSW	15	86311748	missense	probably benign	0.20
R4979:Tbc1d22a	UTSW	15	86391086	missense	probably damaging	1.00
R5913:Tbc1d22a	UTSW	15	86351728	missense	probably damaging	0.98
R5916:Tbc1d22a	UTSW	15	86214608	missense	possibly damaging	0.57
R6360:Tbc1d22a	UTSW	15	86214629	missense	probably damaging	1.00
R6483:Tbc1d22a	UTSW	15	86301567	missense	possibly damaging	0.48
R7138:Tbc1d22a	UTSW	15	86239155	missense	probably benign	0.07
R7294:Tbc1d22a	UTSW	15	86311835	missense	possibly damaging	0.90
R7645:Tbc1d22a	UTSW	15	86235541	missense	probably benign	0.01
R7704:Tbc1d22a	UTSW	15	86366675	missense	probably damaging	1.00
R9204:Tbc1d22a	UTSW	15	86214602	missense	probably benign	0.15
R9370:Tbc1d22a	UTSW	15	86239240	missense	probably benign	0.00
R9459:Tbc1d22a	UTSW	15	86235820	missense	possibly damaging	0.57
R9792:Tbc1d22a	UTSW	15	86235638	missense	probably damaging	0.99
R9793:Tbc1d22a	UTSW	15	86235638	missense	probably damaging	0.99
RF013:Tbc1d22a	UTSW	15	86299774	frame shift	probably null

Posted On

2015-04-16