Mutagenetix > Incidental Mutation

Incidental Mutation 'R6348:Tbc1d21'

514446

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d21

Ensembl Gene

ENSMUSG00000036244

Gene Name

TBC1 domain family, member 21

Synonyms

1700095K08Rik, MgcRabGAP

MMRRC Submission

044502-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6348 (G1)

Quality Score

185.009

Status

Validated

Chromosome

Chromosomal Location

58359704-58370455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58361218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 286 (A286V)

Ref Sequence

ENSEMBL: ENSMUSP00000037525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040217] [ENSMUST00000213847]

AlphaFold

Q9D9D3

Predicted Effect

probably benign
Transcript: ENSMUST00000040217
AA Change: A286V

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

SMART Domains

Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: A286V

Domain	Start	End	E-Value	Type
TBC	54	291	1.76e-4	SMART

Predicted Effect

silent
Transcript: ENSMUST00000213847

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox5	A	T	6: 116,414,595	H400Q	probably damaging	Het
Arhgef16	G	T	4: 154,287,083	Q218K	probably benign	Het
Asxl3	A	T	18: 22,517,273	H773L	possibly damaging	Het
Atic	C	T	1: 71,576,698	R468W	probably damaging	Het
Bfsp2	A	T	9: 103,480,072	V52D	probably benign	Het
Bicd2	A	G	13: 49,379,846	H636R	probably damaging	Het
Chac2	A	G	11: 30,977,406	V171A	probably damaging	Het
Chd9	A	G	8: 91,011,275	I1512V	possibly damaging	Het
Cnbd1	T	C	4: 18,860,462	D428G	probably damaging	Het
Crlf1	T	C	8: 70,493,340	S22P	probably benign	Het
Crybg1	A	G	10: 44,003,951	F414L	probably damaging	Het
Dnah14	A	T	1: 181,626,720	D765V	possibly damaging	Het
Fat3	A	G	9: 15,937,991		probably null	Het
Gabbr1	A	T	17: 37,056,899	M414L	possibly damaging	Het
Gm960	G	C	19: 4,672,078	P105A	probably damaging	Het
Grip2	A	T	6: 91,780,438	D412E	probably damaging	Het
Herc1	G	A	9: 66,487,976	A4198T	possibly damaging	Het
Hsd3b3	C	T	3: 98,755,949		probably null	Het
Ifi213	G	A	1: 173,590,282	T188I	possibly damaging	Het
Il1f5	G	A	2: 24,279,714	A29T	probably damaging	Het
Kdelc2	G	A	9: 53,390,440	V131M	probably damaging	Het
Klk1b11	T	C	7: 43,997,851		probably null	Het
Mepce	A	T	5: 137,785,436	D209E	possibly damaging	Het
Mtr	A	C	13: 12,247,954	V111G	possibly damaging	Het
Olfr1058	T	A	2: 86,386,169	Q83L	probably benign	Het
Olfr826	A	T	10: 130,180,297	N194K	probably benign	Het
Olfr93	A	G	17: 37,151,606	V122A	probably damaging	Het
P2rx1	G	A	11: 72,999,322	R3Q	probably benign	Het
Phc2	G	A	4: 128,705,151	G34S	probably benign	Het
Ppm1a	A	G	12: 72,790,675	H332R	probably benign	Het
Sdk2	A	G	11: 113,893,508	V135A	probably benign	Het
Skiv2l2	T	A	13: 112,910,917	H298L	possibly damaging	Het
Slc2a4	T	C	11: 69,945,022	T334A	probably benign	Het
Slc6a15	T	G	10: 103,404,367	V317G	probably damaging	Het
Speer2	T	C	16: 69,858,007	D190G	possibly damaging	Het
Tmem210	T	C	2: 25,288,784	S82P	probably benign	Het
Zbtb26	C	T	2: 37,435,675	V450M	probably benign	Het

Other mutations in Tbc1d21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00845:Tbc1d21	APN	9	58362462	missense	possibly damaging	0.78
IGL02118:Tbc1d21	APN	9	58360463	missense	probably benign	0.00
IGL02651:Tbc1d21	APN	9	58363101	nonsense	probably null
R0693:Tbc1d21	UTSW	9	58361287	missense	probably damaging	1.00
R0730:Tbc1d21	UTSW	9	58359877	missense	probably benign	0.00
R1454:Tbc1d21	UTSW	9	58362813	critical splice donor site	probably null
R1776:Tbc1d21	UTSW	9	58366728	splice site	probably benign
R2230:Tbc1d21	UTSW	9	58363080	missense	probably damaging	1.00
R2512:Tbc1d21	UTSW	9	58362912	missense	probably damaging	1.00
R3052:Tbc1d21	UTSW	9	58363069	missense	probably damaging	1.00
R3053:Tbc1d21	UTSW	9	58363069	missense	probably damaging	1.00
R6805:Tbc1d21	UTSW	9	58361288	missense	possibly damaging	0.91
R7032:Tbc1d21	UTSW	9	58366851	critical splice donor site	probably null
R7153:Tbc1d21	UTSW	9	58363093	missense	probably damaging	1.00
R7640:Tbc1d21	UTSW	9	58361261	missense	probably damaging	1.00
R7753:Tbc1d21	UTSW	9	58362023	critical splice donor site	probably null
R8835:Tbc1d21	UTSW	9	58366708	missense	probably damaging	1.00
R9316:Tbc1d21	UTSW	9	58366932	missense	probably benign	0.03
R9498:Tbc1d21	UTSW	9	58366641	missense	probably damaging	1.00
R9606:Tbc1d21	UTSW	9	58361204	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- CAGGGCCTTTGAGGATTCTAC -3'
(R):5'- CCCTGGATTGCTAAGCTCTG -3'

Sequencing Primer
(F):5'- ATCATCATGGAACTGCATCCTG -3'
(R):5'- ACAGAGTTGAAGCCTGCT -3'

Posted On

2018-04-27