Mutagenetix > Incidental Mutation

Incidental Mutation 'R5534:Tbc1d2b'

434714

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2b

Ensembl Gene

ENSMUSG00000037410

Gene Name

TBC1 domain family, member 2B

Synonyms

1810061M12Rik

MMRRC Submission

043092-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5534 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90084100-90152861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90109559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 306 (D306N)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041767] [ENSMUST00000144348]

AlphaFold

Q3U0J8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041767
AA Change: D306N

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: D306N

Domain	Start	End	E-Value	Type
PH	35	141	2.66e-9	SMART
low complexity region	324	334	N/A	INTRINSIC
low complexity region	343	356	N/A	INTRINSIC
Blast:TBC	358	601	2e-25	BLAST
TBC	661	881	3.75e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144348

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,155,530 (GRCm39)	D163V	probably benign	Het
Ank2	A	T	3: 126,740,947 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,814,442 (GRCm39)	E355G	probably damaging	Het
Ankmy2	A	G	12: 36,232,491 (GRCm39)	N172S	probably damaging	Het
Ankrd50	A	G	3: 38,510,231 (GRCm39)	M712T	probably damaging	Het
Apcdd1	T	C	18: 63,070,105 (GRCm39)	I124T	probably benign	Het
Carmil3	A	G	14: 55,732,347 (GRCm39)	K256R	probably damaging	Het
Cass4	G	T	2: 172,268,688 (GRCm39)	V259L	probably benign	Het
Ccdc141	A	G	2: 76,888,241 (GRCm39)	V508A	probably benign	Het
Ccdc33	A	G	9: 58,024,450 (GRCm39)	S226P	possibly damaging	Het
Cep72	T	C	13: 74,210,335 (GRCm39)	E9G	probably benign	Het
Clca4b	A	T	3: 144,621,227 (GRCm39)	Y616N	probably damaging	Het
Cnot4	A	G	6: 35,054,939 (GRCm39)	S117P	possibly damaging	Het
Col11a2	C	T	17: 34,269,998 (GRCm39)	A429V	probably damaging	Het
Col4a4	T	C	1: 82,465,238 (GRCm39)	E979G	unknown	Het
Coq10b	T	C	1: 55,103,359 (GRCm39)	Y46H	possibly damaging	Het
Cplane1	C	A	15: 8,258,319 (GRCm39)	F2188L	probably benign	Het
Dnah17	T	C	11: 117,943,596 (GRCm39)	T3169A	possibly damaging	Het
Dock6	G	A	9: 21,714,372 (GRCm39)	R1824*	probably null	Het
Dsp	A	C	13: 38,379,818 (GRCm39)	I1589L	probably benign	Het
Edil3	A	G	13: 89,347,593 (GRCm39)	T383A	probably benign	Het
Efemp1	T	C	11: 28,817,758 (GRCm39)	V79A	probably damaging	Het
Esyt1	C	T	10: 128,355,329 (GRCm39)	V471I	probably benign	Het
Fbxo30	T	C	10: 11,165,409 (GRCm39)	S44P	possibly damaging	Het
Fdx2	G	T	9: 20,984,562 (GRCm39)	D57E	probably benign	Het
Gbp11	A	T	5: 105,478,904 (GRCm39)	V178D	probably damaging	Het
Gna11	A	T	10: 81,366,967 (GRCm39)	I283N	probably damaging	Het
Grid2	A	T	6: 63,480,345 (GRCm39)	Q53L	probably benign	Het
Jmjd6	A	G	11: 116,731,252 (GRCm39)	S266P	probably damaging	Het
Kirrel1	G	A	3: 86,997,825 (GRCm39)	R233C	probably damaging	Het
Kmt2d	A	G	15: 98,735,238 (GRCm39)		probably benign	Het
Lama3	A	T	18: 12,686,267 (GRCm39)	T1171S	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Med13	A	T	11: 86,210,191 (GRCm39)	S650R	probably benign	Het
Meltf	T	A	16: 31,709,632 (GRCm39)		probably null	Het
Mgat1	T	C	11: 49,151,976 (GRCm39)	V153A	probably benign	Het
Mmp16	A	T	4: 18,110,452 (GRCm39)	D416V	probably damaging	Het
Myh3	A	T	11: 66,987,870 (GRCm39)	R1448W	probably damaging	Het
Nedd1	A	T	10: 92,530,894 (GRCm39)	F398L	probably benign	Het
Or2a14	A	G	6: 43,130,567 (GRCm39)	I109M	probably benign	Het
Or4k45	T	C	2: 111,395,349 (GRCm39)	T147A	probably benign	Het
Or5ac17	T	C	16: 59,036,403 (GRCm39)	D191G	probably benign	Het
Or5g9	T	C	2: 85,552,331 (GRCm39)	I194T	probably benign	Het
Otud3	A	G	4: 138,624,894 (GRCm39)	L269P	probably damaging	Het
Otx1	A	G	11: 21,946,296 (GRCm39)		probably benign	Het
Pcdhga7	A	C	18: 37,849,331 (GRCm39)	D446A	probably damaging	Het
Pcnx2	T	G	8: 126,564,754 (GRCm39)	K1046N	possibly damaging	Het
Pfkp	C	A	13: 6,698,619 (GRCm39)	G33W	probably damaging	Het
Poglut2	C	T	1: 44,151,837 (GRCm39)	V351M	probably damaging	Het
Pold1	A	G	7: 44,188,043 (GRCm39)	I585T	probably damaging	Het
Pole4	A	G	6: 82,629,115 (GRCm39)	Y84H	possibly damaging	Het
Pramel26	G	T	4: 143,539,169 (GRCm39)	S108*	probably null	Het
Ptpn23	A	G	9: 110,221,809 (GRCm39)	S126P	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rin3	T	C	12: 102,353,891 (GRCm39)	L766P	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rras2	G	A	7: 113,649,650 (GRCm39)	T138I	possibly damaging	Het
Scrn2	A	G	11: 96,921,751 (GRCm39)	I74V	probably benign	Het
Sema6d	T	C	2: 124,501,735 (GRCm39)	I526T	possibly damaging	Het
Shd	G	T	17: 56,278,577 (GRCm39)	E47*	probably null	Het
Slc22a27	T	C	19: 7,903,996 (GRCm39)	H47R	probably damaging	Het
Slc36a3	C	G	11: 55,033,595 (GRCm39)	W141S	possibly damaging	Het
Slc9c1	T	A	16: 45,376,977 (GRCm39)	V429E	probably benign	Het
Smg8	A	T	11: 86,976,296 (GRCm39)	D428E	probably benign	Het
Snrpe	A	T	1: 133,534,211 (GRCm39)	F84Y	probably benign	Het
Trav9n-4	A	G	14: 53,532,356 (GRCm39)	Y70C	probably damaging	Het
Tut7	A	G	13: 59,936,367 (GRCm39)	F843L	probably damaging	Het
Ush1c	A	G	7: 45,870,847 (GRCm39)	I330T	probably damaging	Het
Wnt11	T	C	7: 98,488,349 (GRCm39)	L12P	probably damaging	Het
Zan	A	G	5: 137,436,713 (GRCm39)	S2047P	unknown	Het
Zfp763	A	C	17: 33,240,768 (GRCm39)	S20R	probably damaging	Het

Other mutations in Tbc1d2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00589:Tbc1d2b	APN	9	90,108,262 (GRCm39)	missense	probably benign
IGL00791:Tbc1d2b	APN	9	90,109,481 (GRCm39)	missense	probably benign	0.18
IGL01457:Tbc1d2b	APN	9	90,087,144 (GRCm39)	missense	probably damaging	1.00
IGL01535:Tbc1d2b	APN	9	90,097,526 (GRCm39)	splice site	probably benign
IGL02089:Tbc1d2b	APN	9	90,104,412 (GRCm39)	missense	possibly damaging	0.80
IGL02409:Tbc1d2b	APN	9	90,104,405 (GRCm39)	missense	probably benign	0.00
IGL02799:Tbc1d2b	APN	9	90,105,487 (GRCm39)	splice site	probably benign
IGL03198:Tbc1d2b	APN	9	90,104,510 (GRCm39)	missense	probably damaging	1.00
Leone	UTSW	9	90,089,940 (GRCm39)	missense	probably damaging	1.00
ocelot	UTSW	9	90,089,937 (GRCm39)	missense	probably damaging	1.00
panthera	UTSW	9	90,108,301 (GRCm39)	missense	probably benign
pardo	UTSW	9	90,101,197 (GRCm39)	missense	probably benign	0.13
pardus	UTSW	9	90,101,063 (GRCm39)	nonsense	probably null
roar	UTSW	9	90,100,975 (GRCm39)	nonsense	probably null
R0062:Tbc1d2b	UTSW	9	90,104,355 (GRCm39)	splice site	probably benign
R0062:Tbc1d2b	UTSW	9	90,104,355 (GRCm39)	splice site	probably benign
R0671:Tbc1d2b	UTSW	9	90,104,558 (GRCm39)	splice site	probably benign
R0682:Tbc1d2b	UTSW	9	90,131,915 (GRCm39)	missense	probably benign	0.01
R1074:Tbc1d2b	UTSW	9	90,104,393 (GRCm39)	missense	possibly damaging	0.68
R1075:Tbc1d2b	UTSW	9	90,104,393 (GRCm39)	missense	possibly damaging	0.68
R1140:Tbc1d2b	UTSW	9	90,108,429 (GRCm39)	missense	possibly damaging	0.91
R1892:Tbc1d2b	UTSW	9	90,100,996 (GRCm39)	missense	probably damaging	0.98
R4064:Tbc1d2b	UTSW	9	90,100,975 (GRCm39)	nonsense	probably null
R4541:Tbc1d2b	UTSW	9	90,087,222 (GRCm39)	missense	probably damaging	1.00
R4590:Tbc1d2b	UTSW	9	90,152,553 (GRCm39)	missense	possibly damaging	0.81
R4651:Tbc1d2b	UTSW	9	90,089,940 (GRCm39)	missense	probably damaging	1.00
R4652:Tbc1d2b	UTSW	9	90,089,940 (GRCm39)	missense	probably damaging	1.00
R4971:Tbc1d2b	UTSW	9	90,100,923 (GRCm39)	missense	probably benign	0.00
R5086:Tbc1d2b	UTSW	9	90,109,510 (GRCm39)	missense	probably benign
R5131:Tbc1d2b	UTSW	9	90,091,812 (GRCm39)	missense	probably damaging	1.00
R5205:Tbc1d2b	UTSW	9	90,089,863 (GRCm39)	missense	probably damaging	1.00
R5502:Tbc1d2b	UTSW	9	90,109,496 (GRCm39)	missense	probably benign
R5509:Tbc1d2b	UTSW	9	90,101,022 (GRCm39)	missense	probably damaging	1.00
R5729:Tbc1d2b	UTSW	9	90,089,925 (GRCm39)	missense	probably benign	0.22
R5735:Tbc1d2b	UTSW	9	90,104,462 (GRCm39)	missense	possibly damaging	0.71
R5847:Tbc1d2b	UTSW	9	90,091,777 (GRCm39)	missense	probably damaging	1.00
R5928:Tbc1d2b	UTSW	9	90,101,197 (GRCm39)	missense	probably benign	0.13
R6595:Tbc1d2b	UTSW	9	90,108,145 (GRCm39)	missense	probably benign	0.02
R6766:Tbc1d2b	UTSW	9	90,108,262 (GRCm39)	missense	probably benign
R7563:Tbc1d2b	UTSW	9	90,108,301 (GRCm39)	missense	probably benign
R7563:Tbc1d2b	UTSW	9	90,101,063 (GRCm39)	nonsense	probably null
R8126:Tbc1d2b	UTSW	9	90,104,369 (GRCm39)	missense	probably benign	0.00
R8162:Tbc1d2b	UTSW	9	90,089,937 (GRCm39)	missense	probably damaging	1.00
R8928:Tbc1d2b	UTSW	9	90,108,190 (GRCm39)	missense	probably damaging	1.00
R9182:Tbc1d2b	UTSW	9	90,152,652 (GRCm39)	missense	probably damaging	0.99
R9210:Tbc1d2b	UTSW	9	90,087,183 (GRCm39)	missense	possibly damaging	0.74
R9212:Tbc1d2b	UTSW	9	90,087,183 (GRCm39)	missense	possibly damaging	0.74
R9381:Tbc1d2b	UTSW	9	90,101,139 (GRCm39)	missense	possibly damaging	0.63
R9494:Tbc1d2b	UTSW	9	90,152,563 (GRCm39)	missense	probably damaging	1.00
X0066:Tbc1d2b	UTSW	9	90,100,711 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGCGACAGTTACCTTCTGACTG -3'
(R):5'- CAAGGAGACATGTCCAGCTG -3'

Sequencing Primer
(F):5'- CGACAGTTACCTTCTGACTGGATAG -3'
(R):5'- CTGCATGGGTTGATGAGTCCAC -3'

Posted On

2016-10-24