Mutagenetix > Incidental Mutation

Incidental Mutation 'R9210:Tbc1d2b'

698800

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d2b

Ensembl Gene

ENSMUSG00000037410

Gene Name

TBC1 domain family, member 2B

Synonyms

1810061M12Rik

MMRRC Submission

068983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90084100-90152861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90087183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 932 (L932Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041767] [ENSMUST00000167122]

AlphaFold

Q3U0J8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041767
AA Change: L932Q

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: L932Q

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: ENSMUST00000167122

SMART Domains

Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	1.4e-28	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	7.2e-17	PFAM
Pfam:Reprolysin_4	224	425	3.6e-9	PFAM
Pfam:Reprolysin	226	437	2.9e-30	PFAM
Pfam:Reprolysin_2	244	427	2.2e-12	PFAM
Pfam:Reprolysin_3	248	383	3.7e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	1.1e-36	PFAM
TSP1	807	863	1.45e-6	SMART
TSP1	866	908	2.41e-1	SMART
TSP1	929	978	1.45e-6	SMART
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1211	1233	N/A	INTRINSIC
TSP1	1385	1435	2.4e-2	SMART
TSP1	1436	1493	1.8e-2	SMART
TSP1	1495	1542	4.82e-2	SMART
TSP1	1543	1600	1.39e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,287,165 (GRCm39)	D40G	probably damaging	Het
Aass	T	C	6: 23,075,767 (GRCm39)	D790G	probably damaging	Het
Abcb4	C	T	5: 9,005,591 (GRCm39)	P1158L	probably damaging	Het
Acod1	T	C	14: 103,292,526 (GRCm39)	V350A	possibly damaging	Het
Acot2	C	A	12: 84,034,851 (GRCm39)	P59Q	probably damaging	Het
Acyp1	A	T	12: 85,326,820 (GRCm39)	V10E	possibly damaging	Het
Adhfe1	A	T	1: 9,637,036 (GRCm39)	D396V	possibly damaging	Het
Agbl3	C	T	6: 34,775,177 (GRCm39)	T161I	probably damaging	Het
Ang6	T	C	14: 44,239,407 (GRCm39)	N107S	probably benign	Het
Arhgap28	A	G	17: 68,162,430 (GRCm39)	M639T	probably benign	Het
Arpc5	A	G	1: 152,642,603 (GRCm39)	D43G	probably null	Het
Asxl3	T	C	18: 22,655,389 (GRCm39)	I1133T	probably benign	Het
Atp7b	T	C	8: 22,487,406 (GRCm39)	D1303G	probably damaging	Het
C2cd4b	G	A	9: 67,667,028 (GRCm39)	R8H	probably damaging	Het
Catsper1	T	A	19: 5,391,535 (GRCm39)	V639E	probably benign	Het
Cbr1b	A	C	16: 93,427,127 (GRCm39)	S243R	possibly damaging	Het
Ccdc113	T	C	8: 96,283,874 (GRCm39)	F316S	probably damaging	Het
Ccdc91	A	G	6: 147,508,398 (GRCm39)	I375V	unknown	Het
Cfap65	G	A	1: 74,959,567 (GRCm39)	T861I	probably benign	Het
Chd1	T	G	17: 15,950,767 (GRCm39)	S153A	possibly damaging	Het
Cln6	A	G	9: 62,757,973 (GRCm39)	H244R	probably damaging	Het
Cnn2	A	T	10: 79,828,373 (GRCm39)	M117L	probably benign	Het
Col19a1	A	T	1: 24,500,555 (GRCm39)		probably null	Het
Csgalnact1	T	C	8: 68,914,241 (GRCm39)		probably benign	Het
Dhx57	T	G	17: 80,576,338 (GRCm39)	D584A	probably damaging	Het
Dnaaf2	G	A	12: 69,244,602 (GRCm39)	A153V	probably damaging	Het
Egfem1	T	G	3: 29,207,743 (GRCm39)	C144W	probably damaging	Het
Ercc6	T	A	14: 32,291,822 (GRCm39)	I1062N	probably benign	Het
Ermap	A	T	4: 119,035,706 (GRCm39)	C427*	probably null	Het
Fam193a	T	C	5: 34,597,481 (GRCm39)	V94A	probably benign	Het
Fbxl14	T	C	6: 119,457,635 (GRCm39)	M272T	probably benign	Het
Grm7	T	A	6: 110,622,869 (GRCm39)	M14K	probably benign	Het
Herc6	A	G	6: 57,639,350 (GRCm39)	Y906C	probably damaging	Het
Hps4	C	A	5: 112,497,227 (GRCm39)	T70N	possibly damaging	Het
Hspg2	A	G	4: 137,289,790 (GRCm39)	H3880R	probably benign	Het
Hus1b	A	C	13: 31,130,858 (GRCm39)	I267S	possibly damaging	Het
Igkv13-84	G	T	6: 68,916,886 (GRCm39)	G61V	probably damaging	Het
Mrgprb2	A	T	7: 48,202,392 (GRCm39)	V111D	possibly damaging	Het
Mta3	A	T	17: 84,015,846 (GRCm39)	N16I	probably damaging	Het
Mtus2	T	A	5: 148,014,124 (GRCm39)	S306T	probably benign	Het
Ncl	G	A	1: 86,280,239 (GRCm39)	P523S	probably benign	Het
Npepps	G	T	11: 97,129,047 (GRCm39)	A379E	probably damaging	Het
Ntng1	A	T	3: 109,779,633 (GRCm39)	C315S	probably damaging	Het
Nyap2	C	T	1: 81,219,042 (GRCm39)	P355S	probably damaging	Het
Or5p54	C	A	7: 107,554,017 (GRCm39)	H56Q	probably benign	Het
Orc2	A	G	1: 58,515,695 (GRCm39)	L271P	probably damaging	Het
Pck2	G	A	14: 55,779,907 (GRCm39)	R52H	probably benign	Het
Pikfyve	T	C	1: 65,291,719 (GRCm39)	S1313P	probably damaging	Het
Pink1	A	G	4: 138,053,278 (GRCm39)	F85L	probably benign	Het
Ppp2r3d	T	C	9: 101,063,175 (GRCm39)	T154A	probably benign	Het
Prkg2	T	C	5: 99,095,333 (GRCm39)	T613A	probably damaging	Het
Ptprz1	A	G	6: 23,050,493 (GRCm39)	M2254V	probably damaging	Het
Rabgap1	T	C	2: 37,377,152 (GRCm39)	V328A	probably damaging	Het
Rag1	T	C	2: 101,474,852 (GRCm39)	S97G	probably benign	Het
Rai1	C	T	11: 60,080,217 (GRCm39)	P1427L	probably benign	Het
Rrp15	G	C	1: 186,471,922 (GRCm39)	A95G	probably damaging	Het
Rttn	T	C	18: 89,064,286 (GRCm39)		probably null	Het
Ryr2	A	C	13: 11,844,560 (GRCm39)	I392S	probably damaging	Het
Scoc	T	C	8: 84,162,543 (GRCm39)	K121R	possibly damaging	Het
Septin5	A	T	16: 18,442,961 (GRCm39)	I206K	possibly damaging	Het
Sh2d2a	C	A	3: 87,756,655 (GRCm39)	L167I	probably damaging	Het
Slc5a2	C	A	7: 127,867,939 (GRCm39)	Q202K	probably damaging	Het
Slco4a1	A	T	2: 180,114,271 (GRCm39)	S518C	probably damaging	Het
Tex15	T	A	8: 34,064,319 (GRCm39)	Y1250N	possibly damaging	Het
Tln1	G	T	4: 43,536,119 (GRCm39)	T2022K	probably damaging	Het
Trpc4	T	A	3: 54,173,741 (GRCm39)	F378L	probably benign	Het
Ush2a	A	T	1: 188,516,866 (GRCm39)	Q3192L	probably null	Het
Usp40	A	T	1: 87,885,035 (GRCm39)	W938R	possibly damaging	Het
Wdr24	T	C	17: 26,043,472 (GRCm39)	V98A	probably benign	Het
Zfp280d	A	G	9: 72,269,789 (GRCm39)	*975W	probably null	Het
Zfp317	A	T	9: 19,558,442 (GRCm39)	K219*	probably null	Het
Zfp986	A	G	4: 145,625,798 (GRCm39)	K153E	probably benign	Het
Zmiz2	T	A	11: 6,346,277 (GRCm39)	S71T	possibly 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
R5534:Tbc1d2b	UTSW	9	90,109,559 (GRCm39)	missense	possibly damaging	0.89
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
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'- CTGATGTGCAGTGATGTGCC -3'
(R):5'- GGGTTCCCAGGGTGATATTC -3'

Sequencing Primer
(F):5'- CAGTGATGTGCCTTTGCTAC -3'
(R):5'- AGGGTGATATTCCCCCATCC -3'

Posted On

2022-02-07