Mutagenetix > Incidental Mutation

Incidental Mutation 'R1822:Tbc1d22a'

206514

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d22a

Ensembl Gene

ENSMUSG00000051864

Gene Name

TBC1 domain family, member 22a

Synonyms

D15Ertd781e

MMRRC Submission

039850-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1822 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86214459-86498503 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86235569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 22 (V22A)

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: V58A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: V58A

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

possibly damaging
Transcript: ENSMUST00000229242
AA Change: V22A

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.7%

Validation Efficiency

97% (105/108)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	T	C	19: 29,716,414	N1960S	probably damaging	Het
Abca8b	G	T	11: 109,957,075	T798K	possibly damaging	Het
Abtb1	T	C	6: 88,836,554	T401A	probably benign	Het
Adsl	G	T	15: 80,962,742	E70*	probably null	Het
Ahcyl2	A	G	6: 29,768,584		probably benign	Het
AI314180	A	G	4: 58,805,539		probably null	Het
Akr1a1	A	G	4: 116,636,653	V310A	probably benign	Het
Alpk3	T	A	7: 81,076,931	C121*	probably null	Het
Amph	T	A	13: 18,948,455	I8N	probably damaging	Het
Ano2	G	A	6: 125,863,457	A364T	probably damaging	Het
Apbb2	T	C	5: 66,400,177	T314A	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atf7ip	A	G	6: 136,587,260	T834A	probably benign	Het
Brca2	T	G	5: 150,540,198	D1142E	probably benign	Het
Cap2	A	G	13: 46,615,347	S210G	probably benign	Het
Capn2	C	A	1: 182,472,960	E596D	possibly damaging	Het
Cdc27	A	T	11: 104,522,822	S358R	probably benign	Het
Cdhr3	C	T	12: 33,045,205	G622S	probably null	Het
Clip2	A	G	5: 134,503,227	Y540H	probably benign	Het
Crhr1	A	T	11: 104,133,072	M1L	probably benign	Het
Csmd1	T	C	8: 16,223,326	T831A	probably damaging	Het
Cwc22	T	C	2: 77,924,659		probably benign	Het
Cyp3a25	T	A	5: 145,984,953	K390N	probably damaging	Het
Cyp4a31	T	C	4: 115,566,613		probably null	Het
Cytip	A	C	2: 58,134,146	S221A	probably benign	Het
Dagla	G	A	19: 10,263,186	R227C	possibly damaging	Het
Dhx57	A	G	17: 80,253,085		probably null	Het
Dnah2	A	T	11: 69,514,804	D627E	probably damaging	Het
Dock8	A	G	19: 25,161,058	E1249G	probably benign	Het
Dpysl3	A	G	18: 43,342,328	V31A	probably benign	Het
Fan1	T	C	7: 64,372,806	N233S	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Glipr1	T	A	10: 111,996,860	M58L	possibly damaging	Het
Gm10509	C	T	17: 21,690,858	P31S	possibly damaging	Het
Gm5070	T	C	3: 95,411,044		noncoding transcript	Het
Gramd1a	T	C	7: 31,142,573	N138S	probably damaging	Het
Grk5	T	C	19: 61,089,972	V489A	probably damaging	Het
Hmcn2	C	T	2: 31,383,692	S1352L	probably damaging	Het
Hoxa5	G	A	6: 52,202,732	T221I	probably damaging	Het
Hsd17b2	C	A	8: 117,758,749	P317Q	possibly damaging	Het
Ifi213	T	A	1: 173,589,842	S335C	probably damaging	Het
Izumo4	A	T	10: 80,703,895	D156V	probably damaging	Het
Khnyn	A	T	14: 55,885,852	E21V	probably damaging	Het
Kmt2d	C	T	15: 98,861,780	G1199E	unknown	Het
Lipk	T	C	19: 34,039,091	W240R	probably benign	Het
Lpar5	A	G	6: 125,081,415	D33G	possibly damaging	Het
Lrp11	A	G	10: 7,596,197	D219G	probably damaging	Het
Lrrcc1	T	C	3: 14,559,225		probably benign	Het
Man2a1	T	C	17: 64,740,842	C252R	probably damaging	Het
Map2k5	A	G	9: 63,235,303	F354L	possibly damaging	Het
Mlh3	T	C	12: 85,266,145		probably benign	Het
Mmp28	A	G	11: 83,444,219	I331T	probably damaging	Het
Muc4	G	C	16: 32,753,919	R1265P	probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Nckap1	A	G	2: 80,517,898	S898P	possibly damaging	Het
Nectin1	T	A	9: 43,791,077	Y40*	probably null	Het
Neurl1a	T	A	19: 47,257,459	V493E	probably benign	Het
Ntf3	A	C	6: 126,102,246	I99S	probably benign	Het
Olfr1115	T	C	2: 87,252,710	S258P	possibly damaging	Het
Olfr1386	T	A	11: 49,470,968	F272L	probably benign	Het
Olfr318	A	T	11: 58,720,307	V247E	probably damaging	Het
Olfr365	C	G	2: 37,201,980	H246Q	probably damaging	Het
Olfr406	A	G	11: 74,270,240	T284A	probably benign	Het
Olfr421-ps1	C	T	1: 174,152,214	R233C	probably benign	Het
Olfr94	A	G	17: 37,196,831		probably benign	Het
Otof	G	A	5: 30,378,710	T1343I	probably benign	Het
Otop2	A	T	11: 115,324,628	Y125F	probably benign	Het
Pate3	G	A	9: 35,646,105	T85I	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Phf11d	T	C	14: 59,356,329	H132R	probably benign	Het
Pik3c3	G	A	18: 30,344,077		probably null	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Prkdc	G	A	16: 15,759,605	D2372N	probably damaging	Het
Ptprq	C	T	10: 107,718,478	E129K	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Ralgapb	T	A	2: 158,492,452	V1027E	probably damaging	Het
Rita1	T	C	5: 120,609,580	T218A	possibly damaging	Het
Rrh	T	A	3: 129,812,633	T218S	probably damaging	Het
Scaper	C	T	9: 55,859,900	A416T	probably damaging	Het
Scn3a	A	G	2: 65,484,372	L1115P	probably damaging	Het
Serpinb6e	A	T	13: 33,833,234	S268T	probably damaging	Het
Slc1a6	G	A	10: 78,812,931	W495*	probably null	Het
Slc32a1	A	G	2: 158,611,378	H46R	probably benign	Het
Slc37a1	C	T	17: 31,300,431		probably benign	Het
Slc6a5	T	A	7: 49,956,425	W694R	probably benign	Het
Smarcd2	A	T	11: 106,267,396	D113E	probably benign	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Sspo	A	T	6: 48,492,886	Q4506L	possibly damaging	Het
Stam2	T	A	2: 52,716,527	E115D	probably damaging	Het
Sult1c1	A	T	17: 53,973,925	L50H	probably damaging	Het
Togaram1	T	G	12: 64,995,635	V1156G	probably damaging	Het
Tpp1	T	C	7: 105,749,647	T192A	probably benign	Het
Ttc37	C	A	13: 76,130,288	H574N	probably benign	Het
Ush1c	A	G	7: 46,209,901	L498P	probably damaging	Het
Vit	A	C	17: 78,622,836	Q410P	probably benign	Het
Vmn2r27	C	T	6: 124,231,634	G51S	probably benign	Het
Zfp341	A	G	2: 154,646,134	E839G	possibly damaging	Het
Zhx3	G	A	2: 160,780,355	L631F	probably benign	Het
Zmpste24	T	C	4: 121,087,316	E95G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GTGCAGTGCCAAGTCCTATTTTG -3'
(R):5'- TACAGGAGGCTCTGCTATGG -3'

Sequencing Primer
(F):5'- AGTGCCAAGTCCTATTTTGATGCC -3'
(R):5'- CTGCTATGGGCTGAGGCTC -3'

Posted On

2014-06-23