Mutagenetix > Incidental Mutation

Incidental Mutation 'R6805:Tbc1d21'

533538

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d21

Ensembl Gene

ENSMUSG00000036244

Gene Name

TBC1 domain family, member 21

Synonyms

1700095K08Rik, MgcRabGAP

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R6805 (G1)

Quality Score

212.009

Status

Validated

Chromosome

Chromosomal Location

58359704-58370455 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58361288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 263 (T263A)

Ref Sequence

ENSEMBL: ENSMUSP00000037525 (fasta)

Gene Model

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

AlphaFold

Q9D9D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040217
AA Change: T263A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: T263A

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

Predicted Effect

unknown
Transcript: ENSMUST00000213847
AA Change: D279G

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 97.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,244,306	V2591A	probably benign	Het
4930407I10Rik	A	G	15: 82,062,543	T214A	possibly damaging	Het
A930009A15Rik	G	T	10: 115,579,905		probably benign	Het
Aadac	A	C	3: 60,037,336	D143A	probably benign	Het
Acot10	T	G	15: 20,665,366	T430P	probably benign	Het
Adgrb3	T	C	1: 25,826,172	T197A	possibly damaging	Het
B230118H07Rik	T	C	2: 101,566,459	K192E	probably benign	Het
Bbs1	A	G	19: 4,900,615	I200T	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cadps	G	A	14: 12,467,103	A943V	probably damaging	Het
Cc2d2a	A	G	5: 43,681,331	E48G	probably damaging	Het
Clca1	A	T	3: 145,018,667	C211S	probably damaging	Het
Col18a1	A	G	10: 77,054,239	L1429P	probably damaging	Het
Cul2	T	G	18: 3,421,263	Y196D	probably damaging	Het
D630023F18Rik	T	C	1: 65,117,206	S43G	probably benign	Het
Ddx39	G	A	8: 83,723,137	R427Q	probably damaging	Het
Def6	A	G	17: 28,223,717	T285A	probably damaging	Het
Defb21	T	A	2: 152,574,869	D88E	probably benign	Het
Defb6	A	G	8: 19,228,101	K63R	probably benign	Het
Dnph1	T	C	17: 46,498,744	S112P	probably damaging	Het
Dock10	T	A	1: 80,586,690	I467L	probably benign	Het
Dspp	C	A	5: 104,175,850	H286Q	probably benign	Het
Eya1	T	A	1: 14,183,277	T459S	probably benign	Het
Faf1	T	C	4: 109,861,852	L385P	probably damaging	Het
Fbxw21	C	A	9: 109,157,565	R82L	probably damaging	Het
Fryl	A	G	5: 73,065,094	V2048A	probably benign	Het
Galnt5	A	T	2: 58,035,299	D864V	possibly damaging	Het
Gata6	T	G	18: 11,054,460	S130A	possibly damaging	Het
Gbf1	G	T	19: 46,262,507	R434L	probably damaging	Het
Gga3	A	G	11: 115,585,762	F709L	probably damaging	Het
Hcar1	A	G	5: 123,879,130	V166A	probably benign	Het
Hexa	T	A	9: 59,563,937	N491K	possibly damaging	Het
Hpse2	A	T	19: 43,294,321	C164*	probably null	Het
Ifi202b	T	C	1: 173,974,989	Y93C	probably damaging	Het
Iscu	T	A	5: 113,775,243	I79N	probably damaging	Het
Jmjd7	T	A	2: 120,031,323	Y182*	probably null	Het
Jup	A	T	11: 100,383,458	D135E	probably benign	Het
Kit	T	A	5: 75,652,808	I881N	probably damaging	Het
Llgl1	T	A	11: 60,702,865	S55T	probably benign	Het
Lonp2	G	A	8: 86,709,096	M653I	probably benign	Het
Lrp8	T	C	4: 107,854,320	Y307H	probably damaging	Het
Med13	A	T	11: 86,278,796	M1914K	possibly damaging	Het
Ms4a1	A	G	19: 11,253,173		probably null	Het
Naip1	A	G	13: 100,427,341	S439P	probably benign	Het
Nrg1	T	C	8: 31,821,264	R476G	probably damaging	Het
Olfr1129	T	A	2: 87,574,918		probably null	Het
Olfr835	G	T	9: 19,035,301	M59I	probably damaging	Het
Pds5b	T	A	5: 150,805,561		probably null	Het
Phf12	G	A	11: 78,027,373	G804R	probably damaging	Het
Pou6f2	T	C	13: 18,239,489	T234A		Het
Prune2	A	T	19: 17,120,590	I1153L	probably benign	Het
Ptprc	C	T	1: 138,067,885		probably null	Het
Qpctl	T	C	7: 19,149,154	Q11R	probably benign	Het
Rfx4	A	G	10: 84,840,228	K103E	possibly damaging	Het
Srcin1	T	A	11: 97,551,980		probably null	Het
St6galnac1	G	T	11: 116,768,944	A181D	probably damaging	Het
Stk36	T	C	1: 74,622,239	V475A	probably benign	Het
Tex24	A	T	8: 27,345,000	K185N	probably damaging	Het
Tnxb	T	A	17: 34,698,153	V2174E	possibly damaging	Het
Tollip	A	G	7: 141,890,845	S57P	probably benign	Het
Zbtb49	A	G	5: 38,213,241		probably benign	Het
Zfp758	A	G	17: 22,361,669	T30A	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
R6348:Tbc1d21	UTSW	9	58361218	missense	probably benign
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'- CCTTCTGTGAGATGGGTACAGG -3'
(R):5'- ATAATGCACCTCCCACCTGG -3'

Sequencing Primer
(F):5'- GGATCAGGGTCTAAGCTGGC -3'
(R):5'- TGGATTGCCAACCCCCAAGTC -3'

Posted On

2018-09-12