Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01457:Tbc1d2b'

84850

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tbc1d2b

Ensembl Gene

ENSMUSG00000037410

Gene Name

TBC1 domain family, member 2B

Synonyms

1810061M12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01457

Quality Score

Status

Chromosome

Chromosomal Location

90084100-90152861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90087144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 945 (L945Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041767] [ENSMUST00000113059] [ENSMUST00000113060] [ENSMUST00000134996] [ENSMUST00000167122]

AlphaFold

Q3U0J8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041767
AA Change: L945Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: L945Q

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: ENSMUST00000113059

SMART Domains

Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	34	174	1.1e-36	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.3e-16	PFAM
Pfam:Reprolysin_4	224	425	8.5e-9	PFAM
Pfam:Reprolysin	226	437	2.2e-27	PFAM
Pfam:Reprolysin_2	244	427	2.9e-12	PFAM
Pfam:Reprolysin_3	248	383	5.2e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	2.2e-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

Predicted Effect

probably benign
Transcript: ENSMUST00000113060

SMART Domains

Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	3.4e-28	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.6e-16	PFAM
Pfam:Reprolysin_4	224	425	8.2e-9	PFAM
Pfam:Reprolysin	226	437	6.4e-30	PFAM
Pfam:Reprolysin_2	244	427	4.6e-12	PFAM
Pfam:Reprolysin_3	248	383	8.1e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	1.5e-36	PFAM
TSP1	807	863	1.45e-6	SMART
TSP1	866	908	2.41e-1	SMART
low complexity region	969	983	N/A	INTRINSIC
low complexity region	1169	1191	N/A	INTRINSIC
TSP1	1343	1393	2.4e-2	SMART
TSP1	1394	1451	1.8e-2	SMART
TSP1	1453	1500	4.82e-2	SMART
TSP1	1501	1558	1.39e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124441

Predicted Effect

probably benign
Transcript: ENSMUST00000134996

SMART Domains

Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	2.4e-29	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	412	1e-17	PFAM
Pfam:Reprolysin_4	224	426	5e-10	PFAM
Pfam:Reprolysin	226	437	3.7e-31	PFAM
Pfam:Reprolysin_2	244	427	3.2e-13	PFAM
Pfam:Reprolysin_3	248	383	6.3e-14	PFAM
Blast:ACR	439	505	7e-12	BLAST

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,382,908 (GRCm39)	Y1019F	probably benign	Het
4930455H04Rik	T	G	3: 116,762,200 (GRCm39)		probably benign	Het
9830107B12Rik	A	T	17: 48,439,193 (GRCm39)		probably benign	Het
Abcc8	A	G	7: 45,784,917 (GRCm39)	V737A	possibly damaging	Het
Adamts20	T	A	15: 94,229,329 (GRCm39)	Y930F	probably damaging	Het
Alkbh8	T	A	9: 3,369,825 (GRCm39)	F365I	probably damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Bfsp1	T	C	2: 143,669,564 (GRCm39)		probably benign	Het
Bltp3b	T	C	10: 89,641,624 (GRCm39)	S932P	probably benign	Het
Cabin1	T	C	10: 75,578,263 (GRCm39)	N478S	probably damaging	Het
Camsap3	G	A	8: 3,654,795 (GRCm39)	V796I	probably damaging	Het
Carns1	A	T	19: 4,216,498 (GRCm39)		probably null	Het
Ccdc121	A	T	5: 31,644,771 (GRCm39)	I175L	probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cltc	C	T	11: 86,593,074 (GRCm39)	M1600I	probably benign	Het
Cnot1	T	A	8: 96,467,637 (GRCm39)	N1499Y	probably damaging	Het
Crebbp	T	A	16: 3,942,632 (GRCm39)	I196L	probably damaging	Het
Drc3	C	A	11: 60,249,475 (GRCm39)		probably benign	Het
Fam161a	T	A	11: 22,970,702 (GRCm39)	Y234*	probably null	Het
Il1r1	C	A	1: 40,352,330 (GRCm39)	P500Q	probably damaging	Het
Katnal1	G	T	5: 148,830,607 (GRCm39)		probably benign	Het
Klhdc2	A	G	12: 69,343,827 (GRCm39)	N20S	probably benign	Het
Kmt2e	A	T	5: 23,707,017 (GRCm39)	T1527S	possibly damaging	Het
Magi1	C	T	6: 93,724,205 (GRCm39)	G270D	probably damaging	Het
Mdn1	T	A	4: 32,715,922 (GRCm39)	S2035T	possibly damaging	Het
Mki67	A	T	7: 135,301,275 (GRCm39)	M1253K	probably benign	Het
Myh7	T	C	14: 55,226,336 (GRCm39)	M435V	possibly damaging	Het
Myh8	A	G	11: 67,183,505 (GRCm39)	I739V	probably benign	Het
Npnt	T	C	3: 132,591,743 (GRCm39)	K430R	probably damaging	Het
Nrdc	A	G	4: 108,904,857 (GRCm39)	N696S	probably benign	Het
Oit3	T	C	10: 59,261,306 (GRCm39)		probably benign	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or51s1	A	G	7: 102,558,926 (GRCm39)	I40T	possibly damaging	Het
Or5bw2	A	G	7: 6,573,211 (GRCm39)	T74A	probably benign	Het
Or5p6	A	T	7: 107,631,328 (GRCm39)	I74K	possibly damaging	Het
Pkd1	G	A	17: 24,813,795 (GRCm39)		probably null	Het
Plat	A	G	8: 23,266,844 (GRCm39)	M279V	probably benign	Het
Prkd1	A	T	12: 50,439,693 (GRCm39)	L378*	probably null	Het
Rasgef1a	C	T	6: 118,061,506 (GRCm39)	T157I	probably benign	Het
Rbm22	A	G	18: 60,693,929 (GRCm39)	N11S	probably damaging	Het
Ros1	T	C	10: 51,922,426 (GRCm39)		probably benign	Het
Sema6d	T	A	2: 124,495,562 (GRCm39)	F3Y	unknown	Het
Sis	T	C	3: 72,868,354 (GRCm39)	D112G	probably benign	Het
Slit1	C	A	19: 41,599,483 (GRCm39)	G1023C	probably damaging	Het
Spata31h1	C	A	10: 82,120,568 (GRCm39)	K4147N	probably damaging	Het
Sptb	T	C	12: 76,659,329 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,475,277 (GRCm39)	I4881T	probably benign	Het
Supt6	C	A	11: 78,111,969 (GRCm39)	D1038Y	probably damaging	Het
Tgfbr3	G	T	5: 107,297,764 (GRCm39)	A212E	probably damaging	Het
Tipin	A	G	9: 64,211,690 (GRCm39)	T259A	probably benign	Het
Traip	T	C	9: 107,847,671 (GRCm39)	S365P	probably benign	Het
Tst	T	C	15: 78,283,967 (GRCm39)	T287A	probably benign	Het
Tube1	C	T	10: 39,021,718 (GRCm39)		probably benign	Het
Vmn1r37	T	A	6: 66,708,393 (GRCm39)	N6K	probably damaging	Het
Vmn2r111	C	A	17: 22,790,966 (GRCm39)	E111*	probably null	Het
Vmn2r17	C	T	5: 109,600,898 (GRCm39)	T732I	probably benign	Het
Vmn2r69	A	T	7: 85,055,836 (GRCm39)	D767E	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
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
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

Posted On

2013-11-11