Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Tbc1d22a'

714778

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d22a

Ensembl Gene

ENSMUSG00000051864

Gene Name

TBC1 domain family, member 22a

Synonyms

D15Ertd781e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86214459-86498503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 86235820 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 142 (S142A)

Ref Sequence

ENSEMBL: ENSMUSP00000065721 (fasta)

Gene Model

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

AlphaFold

Q8R5A6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063414
AA Change: S142A

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: S142A

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 damaging
Transcript: ENSMUST00000229242
AA Change: S106A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gadl1	T	C	9: 115,965,611	W285R	probably damaging	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	probably damaging	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
IGL02543:Tbc1d22a	APN	15	86239171	missense	probably benign	0.30
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
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

Predicted Primers

PCR Primer
(F):5'- ATGATGAGCTCCTGGCCATG -3'
(R):5'- AGCCTGGTCCCCAAATAAAG -3'

Sequencing Primer
(F):5'- GGCGACAGAGAGCCTGAACTC -3'
(R):5'- AGACCATCTGGAGCCCACG -3'

Posted On

2022-06-15