Mutagenetix > Incidental Mutation

Incidental Mutation 'R1642:Tbc1d9b'

173615

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d9b

Ensembl Gene

ENSMUSG00000036644

Gene Name

TBC1 domain family, member 9B

Synonyms

2700008N14Rik

MMRRC Submission

039678-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.516) question?

Stock #

R1642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50022223-50063612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50040659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 392 (D392G)

Ref Sequence

ENSEMBL: ENSMUSP00000098828 (fasta)

Gene Model

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

AlphaFold

Q5SVR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000093138
AA Change: D392G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: D392G

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: D392G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: D392G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148887

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,862,233 (GRCm39)	V19A	probably benign	Het
6820408C15Rik	T	C	2: 152,282,774 (GRCm39)	Y210H	probably damaging	Het
Aars1	T	A	8: 111,769,882 (GRCm39)	I327N	possibly damaging	Het
Abca6	T	A	11: 110,109,107 (GRCm39)	N688Y	possibly damaging	Het
Ablim3	T	C	18: 61,947,382 (GRCm39)	K457R	probably benign	Het
Acsm2	A	T	7: 119,162,860 (GRCm39)	N45Y	probably damaging	Het
Agxt2	T	C	15: 10,373,917 (GRCm39)	S108P	probably damaging	Het
Akr1cl	A	T	1: 65,060,588 (GRCm39)	M174K	probably benign	Het
Armh4	T	C	14: 50,005,867 (GRCm39)		probably null	Het
Bfsp1	G	A	2: 143,683,683 (GRCm39)	R214W	probably damaging	Het
Cby3	A	G	11: 50,250,343 (GRCm39)	D183G	probably damaging	Het
Clip2	T	C	5: 134,532,107 (GRCm39)	D566G	possibly damaging	Het
Colgalt1	A	G	8: 72,073,401 (GRCm39)	I341V	probably benign	Het
Cyp2c38	T	A	19: 39,390,153 (GRCm39)	D349V	probably damaging	Het
Cyp3a16	T	A	5: 145,406,399 (GRCm39)	I18F	unknown	Het
Degs2	C	T	12: 108,658,451 (GRCm39)	C176Y	probably benign	Het
Dhx16	A	T	17: 36,201,957 (GRCm39)	T995S	probably damaging	Het
Dicer1	A	T	12: 104,679,415 (GRCm39)	C521S	probably damaging	Het
Dop1b	T	C	16: 93,559,203 (GRCm39)	S532P	probably benign	Het
Dpysl4	T	G	7: 138,670,254 (GRCm39)	M124R	probably damaging	Het
Eml6	A	G	11: 29,727,001 (GRCm39)		probably null	Het
Erbb4	A	T	1: 68,370,393 (GRCm39)	V395D	probably damaging	Het
Esf1	T	C	2: 140,000,406 (GRCm39)	D460G	possibly damaging	Het
F830045P16Rik	G	A	2: 129,305,634 (GRCm39)	H247Y	probably benign	Het
Fsbp	T	A	4: 11,583,965 (GRCm39)	S221R	probably benign	Het
Fstl5	T	A	3: 76,317,929 (GRCm39)	N198K	possibly damaging	Het
Gemin5	G	T	11: 58,029,906 (GRCm39)	H855Q	probably damaging	Het
Gjd3	T	C	11: 98,873,535 (GRCm39)	E103G	probably benign	Het
I0C0044D17Rik	A	G	4: 98,708,471 (GRCm39)		probably benign	Het
Iqca1l	C	A	5: 24,757,686 (GRCm39)	R177L	probably damaging	Het
Itgb4	A	T	11: 115,898,183 (GRCm39)	R1646W	probably damaging	Het
Klri2	A	T	6: 129,715,837 (GRCm39)	C121S	probably benign	Het
Lamc3	A	G	2: 31,806,008 (GRCm39)	Y703C	probably damaging	Het
Lrrc10	A	G	10: 116,881,788 (GRCm39)	N154S	probably damaging	Het
Lrriq1	A	G	10: 103,050,317 (GRCm39)	F812L	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Nav1	T	C	1: 135,380,010 (GRCm39)	Y1564C	probably damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Neurl4	A	G	11: 69,794,485 (GRCm39)	M23V	probably benign	Het
Nnt	A	G	13: 119,541,086 (GRCm39)		probably null	Het
Nolc1	G	C	19: 46,067,461 (GRCm39)		probably null	Het
Nrg1	A	T	8: 32,314,536 (GRCm39)	M289K	probably benign	Het
Oas3	G	T	5: 120,915,639 (GRCm39)	H17Q	possibly damaging	Het
Or10h1	A	G	17: 33,418,430 (GRCm39)	Y132C	probably damaging	Het
Or2z2	A	G	11: 58,346,664 (GRCm39)	I37T	probably benign	Het
Or5m5	A	G	2: 85,814,201 (GRCm39)	K6E	probably benign	Het
Or8g36	C	T	9: 39,422,650 (GRCm39)	R122H	possibly damaging	Het
Parp9	T	C	16: 35,788,067 (GRCm39)	Y612H	probably benign	Het
Pcdh1	A	T	18: 38,332,283 (GRCm39)	M240K	possibly damaging	Het
Pcdhb9	A	G	18: 37,533,987 (GRCm39)		probably benign	Het
Plpp2	A	G	10: 79,366,518 (GRCm39)	V42A	probably damaging	Het
Ppic	C	T	18: 53,540,134 (GRCm39)	V172M	probably damaging	Het
Ppp1r9b	A	G	11: 94,892,150 (GRCm39)		silent	Het
Prop1	A	G	11: 50,844,152 (GRCm39)	V27A	possibly damaging	Het
Psmc5	A	G	11: 106,153,242 (GRCm39)	T295A	probably benign	Het
Rpa1	A	G	11: 75,203,517 (GRCm39)		probably null	Het
Rrp12	A	G	19: 41,860,176 (GRCm39)	F1016L	probably damaging	Het
Scn2a	A	T	2: 65,514,041 (GRCm39)	I242F	probably damaging	Het
Slco1a6	T	A	6: 142,032,160 (GRCm39)	H655L	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,298,694 (GRCm39)	I1071T	possibly damaging	Het
Tcaim	G	A	9: 122,647,838 (GRCm39)		probably null	Het
Tgm3	T	A	2: 129,889,702 (GRCm39)	V632E	probably damaging	Het
Triobp	C	A	15: 78,886,348 (GRCm39)	R1830S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Znfx1	T	C	2: 166,880,930 (GRCm39)	I285V	possibly damaging	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
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
R7464:Tbc1d9b	UTSW	11	50,022,312 (GRCm39)	missense	probably damaging	1.00
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'- ACATGTGCAGCTCACACGCAAG -3'
(R):5'- GGCAGTGTCACTATCATGTCCCTTC -3'

Sequencing Primer
(F):5'- TGGCAGGACATCAGTCCAG -3'
(R):5'- gccttgaacctgtaaccatcc -3'

Posted On

2014-04-24