Mutagenetix > Incidental Mutation

Incidental Mutation 'R7464:Tbc1d9b'

578653

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9b

Ensembl Gene

ENSMUSG00000036644

Gene Name

TBC1 domain family, member 9B

Synonyms

2700008N14Rik

MMRRC Submission

045538-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.553) question?

Stock #

R7464 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50022223-50063612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50022312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 16 (V16E)

Ref Sequence

ENSEMBL: ENSMUSP00000090825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093138] [ENSMUST00000101270]

AlphaFold

Q5SVR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000093138
AA Change: V16E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: V16E

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
GRAM	142	209	1.21e-26	SMART
GRAM	288	356	3.02e-22	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	422	447	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC
TBC	506	719	1.18e-57	SMART
Blast:TBC	727	810	2e-28	BLAST
low complexity region	1124	1138	N/A	INTRINSIC
low complexity region	1144	1155	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000101270
AA Change: V16E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: V16E

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
GRAM	142	209	1.21e-26	SMART
GRAM	288	356	3.02e-22	SMART
low complexity region	357	368	N/A	INTRINSIC
low complexity region	422	447	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC
TBC	506	719	1.18e-57	SMART
Blast:TBC	727	810	3e-28	BLAST
low complexity region	970	980	N/A	INTRINSIC
low complexity region	1141	1155	N/A	INTRINSIC
low complexity region	1161	1172	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,077,152 (GRCm39)	G736R	possibly damaging	Het
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Ankar	A	T	1: 72,738,053 (GRCm39)	V43E	possibly damaging	Het
Apof	A	G	10: 128,105,505 (GRCm39)	I220V	probably benign	Het
Asxl1	G	T	2: 153,239,705 (GRCm39)	A499S	probably benign	Het
Baz2a	T	A	10: 127,957,942 (GRCm39)	D1069E	possibly damaging	Het
Baz2b	T	C	2: 59,807,792 (GRCm39)	T156A	possibly damaging	Het
Bbc3	A	T	7: 16,051,082 (GRCm39)	R169W	unknown	Het
C5ar1	T	A	7: 15,982,691 (GRCm39)	I110L	probably benign	Het
Cd19	C	A	7: 126,010,975 (GRCm39)	R323L	probably damaging	Het
Cdc14b	A	T	13: 64,344,489 (GRCm39)	C113*	probably null	Het
Cngb1	C	A	8: 95,980,811 (GRCm39)	W914L	possibly damaging	Het
Colgalt2	A	G	1: 152,379,895 (GRCm39)	K445E	probably damaging	Het
Crebrf	A	G	17: 26,982,461 (GRCm39)	M608V	unknown	Het
Csf1	T	A	3: 107,656,191 (GRCm39)	H280L	probably benign	Het
Cyp2j11	C	A	4: 96,233,357 (GRCm39)	R113L	probably damaging	Het
D5Ertd579e	G	A	5: 36,771,129 (GRCm39)	H1089Y	probably damaging	Het
Ddx60	C	T	8: 62,393,708 (GRCm39)	T48M	possibly damaging	Het
Defa40	T	A	8: 21,739,910 (GRCm39)	S45T	probably damaging	Het
Dock10	T	C	1: 80,518,032 (GRCm39)	D1315G	probably damaging	Het
Dock2	T	G	11: 34,586,105 (GRCm39)	N526H	probably damaging	Het
Dram2	T	C	3: 106,480,999 (GRCm39)	*268Q	probably null	Het
Emc8	A	G	8: 121,394,657 (GRCm39)	Y21H	possibly damaging	Het
Fam162a	A	G	16: 35,891,863 (GRCm39)	L4P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbxw10	T	A	11: 62,744,124 (GRCm39)	I307N	probably benign	Het
Fbxw16	A	G	9: 109,268,619 (GRCm39)	V257A	possibly damaging	Het
Fer1l6	T	A	15: 58,445,096 (GRCm39)		probably null	Het
Galnt7	A	G	8: 58,037,054 (GRCm39)	Y112H	possibly damaging	Het
Gigyf2	T	C	1: 87,356,326 (GRCm39)	I803T	unknown	Het
Gm28729	A	G	9: 96,403,288 (GRCm39)	I44T	possibly damaging	Het
Gm5447	A	G	13: 31,158,377 (GRCm39)	I34V	not run	Het
H2-M9	A	T	17: 36,953,303 (GRCm39)		probably null	Het
Helz	G	A	11: 107,527,104 (GRCm39)	C864Y	probably damaging	Het
Il25	A	G	14: 55,170,679 (GRCm39)	Y84C	probably null	Het
Itga10	T	A	3: 96,555,471 (GRCm39)	C142S	probably damaging	Het
Kcna10	A	T	3: 107,101,395 (GRCm39)	M9L	probably damaging	Het
Klhl6	G	T	16: 19,775,863 (GRCm39)	Q232K	possibly damaging	Het
Mb21d2	T	G	16: 28,748,298 (GRCm39)	I40L	possibly damaging	Het
Mdm1	T	C	10: 117,988,171 (GRCm39)	S334P	probably benign	Het
Mllt10	T	A	2: 18,175,090 (GRCm39)	D549E	probably benign	Het
Mlxipl	T	C	5: 135,162,482 (GRCm39)	V648A	probably benign	Het
Nars2	A	G	7: 96,689,137 (GRCm39)	K353R	probably benign	Het
Nav1	T	A	1: 135,512,647 (GRCm39)	M138L	probably benign	Het
Neb	T	C	2: 52,083,902 (GRCm39)	T5635A	probably benign	Het
Nktr	A	C	9: 121,579,393 (GRCm39)	I1154L	unknown	Het
Or14j8	A	T	17: 38,263,171 (GRCm39)	V248D	probably damaging	Het
Or2a57	T	G	6: 43,213,228 (GRCm39)	S229A	probably damaging	Het
Or4g17	T	A	2: 111,209,543 (GRCm39)	L66Q	probably damaging	Het
Oxld1	T	C	11: 120,347,963 (GRCm39)	D78G	probably benign	Het
Pde1b	T	C	15: 103,433,256 (GRCm39)	I255T	probably benign	Het
Pkp4	T	A	2: 59,138,481 (GRCm39)	F244I	probably benign	Het
Polg2	C	A	11: 106,664,540 (GRCm39)	V305L	probably benign	Het
Pramel34	C	T	5: 93,784,099 (GRCm39)	C455Y	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sash1	T	C	10: 8,632,509 (GRCm39)	D242G	possibly damaging	Het
Six4	T	C	12: 73,159,304 (GRCm39)	T219A	possibly damaging	Het
Slc28a3	A	C	13: 58,710,835 (GRCm39)	Y562*	probably null	Het
Soat1	A	T	1: 156,266,887 (GRCm39)	W310R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,740,671 (GRCm39)	N30D	probably benign	Het
Spopfm2	A	T	3: 94,083,411 (GRCm39)	N133K	probably benign	Het
Srebf2	T	A	15: 82,057,075 (GRCm39)	I270N	probably damaging	Het
St8sia3	T	C	18: 64,404,589 (GRCm39)	W289R	probably damaging	Het
Stx5a	T	A	19: 8,720,868 (GRCm39)		probably benign	Het
Tacc1	T	C	8: 25,654,480 (GRCm39)	D689G	probably damaging	Het
Tacc3	A	G	5: 33,818,628 (GRCm39)	D21G	probably benign	Het
Tapt1	G	A	5: 44,346,030 (GRCm39)	R307*	probably null	Het
Tchhl1	G	A	3: 93,377,971 (GRCm39)	R225K	probably benign	Het
Thumpd3	G	A	6: 113,032,730 (GRCm39)	G156D	probably benign	Het
Tmem178	C	T	17: 81,252,331 (GRCm39)	P72S	probably benign	Het
Tmem52	C	T	4: 155,553,926 (GRCm39)	P46S	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tulp3	A	T	6: 128,303,792 (GRCm39)	V269D	probably benign	Het
Ubr1	A	G	2: 120,720,255 (GRCm39)		probably null	Het
Upf1	G	A	8: 70,786,073 (GRCm39)	S962L	probably benign	Het
Vcpip1	C	T	1: 9,816,745 (GRCm39)	R546Q	probably damaging	Het
Vmn2r49	A	C	7: 9,722,820 (GRCm39)	S151R	probably benign	Het
Wac	T	C	18: 7,871,746 (GRCm39)		probably null	Het
Wrn	C	T	8: 33,826,024 (GRCm39)		probably null	Het
Zfp286	C	A	11: 62,671,627 (GRCm39)	D149Y	probably benign	Het
Zfp748	A	G	13: 67,690,091 (GRCm39)	C390R	probably damaging	Het
Zfp873	A	G	10: 81,896,210 (GRCm39)	T314A	possibly damaging	Het
Zfyve1	C	T	12: 83,598,261 (GRCm39)	D656N	probably benign	Het
Zmym1	T	A	4: 126,952,728 (GRCm39)	K18*	probably null	Het

Other mutations in Tbc1d9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01868:Tbc1d9b	APN	11	50,052,460 (GRCm39)	missense	probably damaging	1.00
IGL01870:Tbc1d9b	APN	11	50,052,915 (GRCm39)	missense	probably damaging	1.00
IGL02082:Tbc1d9b	APN	11	50,054,709 (GRCm39)	missense	probably benign	0.00
IGL02105:Tbc1d9b	APN	11	50,040,653 (GRCm39)	missense	probably damaging	0.96
IGL02264:Tbc1d9b	APN	11	50,040,584 (GRCm39)	missense	probably damaging	0.98
IGL02801:Tbc1d9b	APN	11	50,043,657 (GRCm39)	missense	probably damaging	1.00
IGL03111:Tbc1d9b	APN	11	50,049,369 (GRCm39)	missense	probably damaging	1.00
IGL02988:Tbc1d9b	UTSW	11	50,042,773 (GRCm39)	missense	possibly damaging	0.80
R0102:Tbc1d9b	UTSW	11	50,026,676 (GRCm39)	missense	probably damaging	1.00
R0109:Tbc1d9b	UTSW	11	50,049,261 (GRCm39)	missense	probably benign	0.02
R0131:Tbc1d9b	UTSW	11	50,026,751 (GRCm39)	missense	probably benign
R0463:Tbc1d9b	UTSW	11	50,035,894 (GRCm39)	missense	probably benign	0.00
R0472:Tbc1d9b	UTSW	11	50,059,055 (GRCm39)	splice site	probably null
R0846:Tbc1d9b	UTSW	11	50,062,148 (GRCm39)	missense	probably benign	0.01
R1099:Tbc1d9b	UTSW	11	50,037,135 (GRCm39)	missense	probably benign	0.04
R1276:Tbc1d9b	UTSW	11	50,043,476 (GRCm39)	missense	possibly damaging	0.87
R1642:Tbc1d9b	UTSW	11	50,040,659 (GRCm39)	missense	probably damaging	0.98
R2679:Tbc1d9b	UTSW	11	50,052,528 (GRCm39)	splice site	probably null
R2915:Tbc1d9b	UTSW	11	50,040,563 (GRCm39)	missense	possibly damaging	0.95
R3825:Tbc1d9b	UTSW	11	50,061,954 (GRCm39)	missense	possibly damaging	0.85
R3964:Tbc1d9b	UTSW	11	50,059,523 (GRCm39)	missense	possibly damaging	0.50
R4051:Tbc1d9b	UTSW	11	50,062,070 (GRCm39)	missense	probably benign	0.09
R4705:Tbc1d9b	UTSW	11	50,031,289 (GRCm39)	missense	probably benign	0.33
R4783:Tbc1d9b	UTSW	11	50,062,125 (GRCm39)	missense	probably benign	0.00
R5330:Tbc1d9b	UTSW	11	50,037,140 (GRCm39)	missense	probably benign
R5331:Tbc1d9b	UTSW	11	50,037,140 (GRCm39)	missense	probably benign
R5888:Tbc1d9b	UTSW	11	50,031,311 (GRCm39)	missense	probably benign	0.15
R5949:Tbc1d9b	UTSW	11	50,038,876 (GRCm39)	missense	probably benign
R6144:Tbc1d9b	UTSW	11	50,037,155 (GRCm39)	missense	probably benign
R6166:Tbc1d9b	UTSW	11	50,026,673 (GRCm39)	missense	probably damaging	1.00
R6331:Tbc1d9b	UTSW	11	50,022,324 (GRCm39)	missense	possibly damaging	0.95
R6432:Tbc1d9b	UTSW	11	50,037,155 (GRCm39)	missense	probably benign
R6856:Tbc1d9b	UTSW	11	50,059,573 (GRCm39)	missense	probably benign	0.11
R7110:Tbc1d9b	UTSW	11	50,054,657 (GRCm39)	missense	probably benign	0.09
R7134:Tbc1d9b	UTSW	11	50,043,519 (GRCm39)	missense	possibly damaging	0.55
R7372:Tbc1d9b	UTSW	11	50,059,515 (GRCm39)	splice site	probably null
R7508:Tbc1d9b	UTSW	11	50,035,947 (GRCm39)	missense	probably damaging	0.97
R7584:Tbc1d9b	UTSW	11	50,061,543 (GRCm39)	missense	probably damaging	1.00
R7730:Tbc1d9b	UTSW	11	50,026,742 (GRCm39)	missense	possibly damaging	0.89
R7747:Tbc1d9b	UTSW	11	50,052,447 (GRCm39)	missense	probably benign	0.39
R8260:Tbc1d9b	UTSW	11	50,055,013 (GRCm39)	missense	probably benign	0.26
R8345:Tbc1d9b	UTSW	11	50,040,659 (GRCm39)	missense	probably damaging	0.98
R8711:Tbc1d9b	UTSW	11	50,047,578 (GRCm39)	missense	probably damaging	1.00
R8979:Tbc1d9b	UTSW	11	50,061,809 (GRCm39)	missense	probably benign	0.00
R9012:Tbc1d9b	UTSW	11	50,040,688 (GRCm39)	missense	probably benign	0.00
R9300:Tbc1d9b	UTSW	11	50,054,714 (GRCm39)	missense	probably benign	0.00
R9655:Tbc1d9b	UTSW	11	50,059,610 (GRCm39)	missense	possibly damaging	0.93
R9794:Tbc1d9b	UTSW	11	50,062,005 (GRCm39)	missense	probably benign	0.28
X0065:Tbc1d9b	UTSW	11	50,059,010 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCGATCCCCTCCAAACTG -3'
(R):5'- CTTTACAGGACTGTGCACACG -3'

Sequencing Primer
(F):5'- TCCAAACTGGACAGCGGC -3'
(R):5'- AGGCCACTGGTGTCCTTC -3'

Posted On

2019-10-07