Mutagenetix > Incidental Mutation

Incidental Mutation 'R9606:Tbc1d21'

723880

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: 0.106) question?

Stock #

R9606 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58266987-58277738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58268487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 291 (M291V)

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: M291V

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037525
Gene: ENSMUSG00000036244
AA Change: M291V

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

Predicted Effect

unknown
Transcript: ENSMUST00000213847
AA Change: Y307C

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,706 (GRCm39)	Y286C	probably damaging	Het
Cacna1c	T	C	6: 118,587,455 (GRCm39)	T1657A		Het
Ccs	A	T	19: 4,882,897 (GRCm39)	D151E	probably benign	Het
Cfap74	A	G	4: 155,509,133 (GRCm39)	T295A		Het
Chmp4c	A	T	3: 10,432,222 (GRCm39)	E44V	probably damaging	Het
Crybg2	A	T	4: 133,801,383 (GRCm39)	K539*	probably null	Het
Dgkg	T	C	16: 22,441,011 (GRCm39)	M1V	probably null	Het
E2f2	T	A	4: 135,911,743 (GRCm39)	Y251*	probably null	Het
Fat2	T	C	11: 55,180,093 (GRCm39)	Y1416C	probably damaging	Het
Fgl2	T	C	5: 21,577,991 (GRCm39)	S93P	possibly damaging	Het
Hivep3	C	T	4: 119,989,786 (GRCm39)	T2079I	probably damaging	Het
Igfl3	A	C	7: 17,913,920 (GRCm39)	K90T	possibly damaging	Het
Lsamp	A	G	16: 41,709,292 (GRCm39)	D74G	probably benign	Het
Mmrn2	C	A	14: 34,119,654 (GRCm39)	T211K	possibly damaging	Het
Mov10	A	T	3: 104,707,664 (GRCm39)	V570D	probably benign	Het
Mrc1	A	T	2: 14,313,517 (GRCm39)	Y916F	probably benign	Het
Myo10	CAGGTATAAAG	CAG	15: 25,776,401 (GRCm39)		probably null	Het
Ndc1	T	A	4: 107,246,686 (GRCm39)	C370S	probably damaging	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nrcam	A	T	12: 44,609,240 (GRCm39)	N455I	probably damaging	Het
Nrp1	G	A	8: 129,229,029 (GRCm39)	E836K	probably benign	Het
Or2t29	C	T	11: 58,433,753 (GRCm39)	C196Y	probably damaging	Het
Or5b120	A	T	19: 13,479,943 (GRCm39)	K79*	probably null	Het
Or6c216	A	T	10: 129,678,625 (GRCm39)	C95*	probably null	Het
Or8b1d	A	G	9: 38,558,620 (GRCm39)	S67P	probably damaging	Het
Pcca	T	C	14: 122,901,717 (GRCm39)	S287P	probably damaging	Het
Pitpnm3	T	A	11: 71,955,069 (GRCm39)	T482S	probably benign	Het
Pld2	C	T	11: 70,445,893 (GRCm39)	R676*	probably null	Het
Ppm1k	T	C	6: 57,491,057 (GRCm39)	Y286C	possibly damaging	Het
Rb1	T	C	14: 73,517,573 (GRCm39)	N278D	probably damaging	Het
Sema3g	T	C	14: 30,943,783 (GRCm39)	L221P	probably damaging	Het
Skint2	C	T	4: 112,483,147 (GRCm39)	T184I	probably benign	Het
Slc38a2	A	G	15: 96,591,172 (GRCm39)	F232S	probably damaging	Het
Snx6	T	C	12: 54,814,811 (GRCm39)	N170S	probably benign	Het
Sox9	T	A	11: 112,673,416 (GRCm39)	N2K	probably damaging	Het
Sp140l1	G	C	1: 85,075,344 (GRCm39)		probably null	Het
Srpk2	T	C	5: 23,729,604 (GRCm39)	E345G	probably benign	Het
Tekt2	T	C	4: 126,218,693 (GRCm39)	N20S	probably benign	Het
Tnxb	T	G	17: 34,914,578 (GRCm39)	I1888S	possibly damaging	Het
Tsnaxip1	G	A	8: 106,566,685 (GRCm39)	E174K	probably damaging	Het
Ttc28	G	A	5: 111,433,140 (GRCm39)	R2058Q	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ttyh2	T	A	11: 114,601,667 (GRCm39)	D430E	probably benign	Het
Ubr2	C	T	17: 47,245,020 (GRCm39)	G1669R	probably damaging	Het
Vcan	A	T	13: 89,853,491 (GRCm39)	S490T	probably damaging	Het
Vmn1r86	T	A	7: 12,836,741 (GRCm39)	D45V	probably damaging	Het
Wdr12	A	G	1: 60,127,226 (GRCm39)	V143A	possibly damaging	Het
Zbtb18	T	A	1: 177,274,989 (GRCm39)	Y116*	probably null	Het
Zdbf2	C	T	1: 63,342,536 (GRCm39)	T305I	possibly damaging	Het
Zfp384	T	A	6: 125,007,802 (GRCm39)	M244K	possibly damaging	Het
Zfp423	A	T	8: 88,414,595 (GRCm39)	V1241D	probably damaging	Het
Zfp574	A	G	7: 24,780,640 (GRCm39)	Y554C	probably damaging	Het
Zfp616	T	C	11: 73,976,220 (GRCm39)	S830P	probably damaging	Het
Zfp839	A	G	12: 110,834,776 (GRCm39)	Y677C	probably benign	Het

Other mutations in Tbc1d21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00845:Tbc1d21	APN	9	58,269,745 (GRCm39)	missense	possibly damaging	0.78
IGL02118:Tbc1d21	APN	9	58,267,746 (GRCm39)	missense	probably benign	0.00
IGL02651:Tbc1d21	APN	9	58,270,384 (GRCm39)	nonsense	probably null
R0693:Tbc1d21	UTSW	9	58,268,570 (GRCm39)	missense	probably damaging	1.00
R0730:Tbc1d21	UTSW	9	58,267,160 (GRCm39)	missense	probably benign	0.00
R1454:Tbc1d21	UTSW	9	58,270,096 (GRCm39)	critical splice donor site	probably null
R1776:Tbc1d21	UTSW	9	58,274,011 (GRCm39)	splice site	probably benign
R2230:Tbc1d21	UTSW	9	58,270,363 (GRCm39)	missense	probably damaging	1.00
R2512:Tbc1d21	UTSW	9	58,270,195 (GRCm39)	missense	probably damaging	1.00
R3052:Tbc1d21	UTSW	9	58,270,352 (GRCm39)	missense	probably damaging	1.00
R3053:Tbc1d21	UTSW	9	58,270,352 (GRCm39)	missense	probably damaging	1.00
R6348:Tbc1d21	UTSW	9	58,268,501 (GRCm39)	missense	probably benign
R6805:Tbc1d21	UTSW	9	58,268,571 (GRCm39)	missense	possibly damaging	0.91
R7032:Tbc1d21	UTSW	9	58,274,134 (GRCm39)	critical splice donor site	probably null
R7153:Tbc1d21	UTSW	9	58,270,376 (GRCm39)	missense	probably damaging	1.00
R7640:Tbc1d21	UTSW	9	58,268,544 (GRCm39)	missense	probably damaging	1.00
R7753:Tbc1d21	UTSW	9	58,269,306 (GRCm39)	critical splice donor site	probably null
R8835:Tbc1d21	UTSW	9	58,273,991 (GRCm39)	missense	probably damaging	1.00
R9316:Tbc1d21	UTSW	9	58,274,215 (GRCm39)	missense	probably benign	0.03
R9498:Tbc1d21	UTSW	9	58,273,924 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGGGCCTTTGAGGATTC -3'
(R):5'- TGGATTGCTAAGCTCTGGC -3'

Sequencing Primer
(F):5'- GGCCTTTGAGGATTCTACTAAAAACC -3'
(R):5'- ATATCCTGTTCTGAGTATGTGGTC -3'

Posted On

2022-09-12