Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:Tbc1d22a'

213384

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d22a

Ensembl Gene

ENSMUSG00000051864

Gene Name

TBC1 domain family, member 22a

Synonyms

D15Ertd781e

MMRRC Submission

039943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1925 (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 86239149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 128 (S128P)

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: S164P

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

SMART Domains

Protein: ENSMUSP00000065721
Gene: ENSMUSG00000051864
AA Change: S164P

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: S128P

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

Meta Mutation Damage Score

0.0815

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,671,607	H577R	probably damaging	Het
Acvr1	T	C	2: 58,447,649	M474V	probably damaging	Het
Adam1a	A	T	5: 121,519,450	C593*	probably null	Het
Agap2	A	G	10: 127,090,875	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,770,653	H958R	probably damaging	Het
Apaf1	A	G	10: 90,999,719	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,319,930	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,697,764	M1105V	probably benign	Het
Clasp2	T	A	9: 113,906,197	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,700,373	I1232N	unknown	Het
Col4a3	T	G	1: 82,711,874		probably benign	Het
Comtd1	T	G	14: 21,847,663	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,034,377	T320S	probably benign	Het
Dlx2	T	C	2: 71,546,178	N72S	probably benign	Het
Dnhd1	T	A	7: 105,652,252	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,673,854	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,332,931	I140F	probably damaging	Het
Elmod2	G	A	8: 83,321,464	A123V	probably benign	Het
Etv4	T	C	11: 101,771,681		probably benign	Het
F3	A	T	3: 121,729,383	T81S	probably damaging	Het
Faf2	C	T	13: 54,652,052	A224V	probably damaging	Het
Fbn1	A	T	2: 125,363,629	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,765,843	E586G	probably damaging	Het
Gm10428	G	T	11: 62,753,353		probably benign	Het
Gm13088	T	A	4: 143,654,455	T333S	probably damaging	Het
Gm5884	A	T	6: 128,645,087		noncoding transcript	Het
Gm6471	T	A	7: 142,831,582		noncoding transcript	Het
Gtse1	T	C	15: 85,873,738	V515A	probably benign	Het
H2-M2	T	C	17: 37,482,500	E205G	probably damaging	Het
Ido1	T	A	8: 24,585,290	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,115,148	Y225C	probably damaging	Het
Kcnq3	T	G	15: 66,004,809	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,649,490	N321D	probably benign	Het
Lztr1	G	T	16: 17,523,383	R291L	probably damaging	Het
Micu1	C	T	10: 59,733,161		probably benign	Het
Msh5	C	T	17: 35,029,952	V702I	probably benign	Het
Myh1	T	C	11: 67,211,170	I792T	probably benign	Het
Nav1	T	A	1: 135,607,229		probably benign	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1044	T	C	2: 86,171,010	D269G	probably benign	Het
Olfr204	A	G	16: 59,314,664	S248P	probably damaging	Het
Olfr266	C	T	3: 106,822,372	M62I	probably damaging	Het
Otof	G	C	5: 30,394,188	N340K	probably benign	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Plek2	T	A	12: 78,894,890	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,651,609	Y38*	probably null	Het
Prmt9	T	A	8: 77,577,339	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,059,473	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,266,038	P432Q	probably benign	Het
Scd4	T	G	19: 44,341,384	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,529,019	A719T	probably benign	Het
Sdk1	T	A	5: 142,185,285	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,435,923	E12G	probably benign	Het
Slc6a12	T	A	6: 121,360,526	F390I	probably benign	Het
Snapin	A	T	3: 90,490,232	D77E	possibly damaging	Het
Sox2	G	T	3: 34,650,671	E86*	probably null	Het
Sparcl1	A	G	5: 104,093,354	L68P	probably benign	Het
Sptb	T	A	12: 76,622,253	E562V	probably damaging	Het
Taar3	A	T	10: 23,950,585	H343L	probably benign	Het
Tanc1	T	A	2: 59,724,751	V51E	possibly damaging	Het
Thada	A	G	17: 84,444,499	S350P	probably benign	Het
Tmem161b	T	C	13: 84,260,229	V93A	probably benign	Het
Tnn	T	C	1: 160,097,229	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,582,318	V94A	probably benign	Het
Ttll12	C	T	15: 83,581,775	E407K	probably benign	Het
Ttn	T	C	2: 76,725,512	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,308,102	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,478,389	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,556,277	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,802,153	L276Q	probably damaging	Het
Zan	C	A	5: 137,425,642	C2665F	unknown	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,662,017	H287R	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
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'- TCCAGGCCTGTGGATATCTG -3'
(R):5'- TGGTCTTGTAAGAAACCACAACC -3'

Sequencing Primer
(F):5'- GGTGAACAGTACTTCATTAGTGAGC -3'
(R):5'- CCACTCTCAGGGACTCACCAAG -3'

Posted On

2014-07-14