Mutagenetix > Incidental Mutation

Incidental Mutation 'R5389:Tbc1d23'

425494

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

042961-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R5389 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57168862-57231504 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57198928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 219 (D219G)

Ref Sequence

ENSEMBL: ENSMUSP00000154535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023431] [ENSMUST00000226586] [ENSMUST00000228172]

AlphaFold

Q8K0F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023431
AA Change: D219G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: D219G

Domain	Start	End	E-Value	Type
TBC	41	249	7.22e-5	SMART
RHOD	323	443	7.83e-1	SMART
low complexity region	459	472	N/A	INTRINSIC
Blast:TBC	506	630	8e-14	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000226586
AA Change: D219G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000228172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231435

Meta Mutation Damage Score

0.5267

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (65/66)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased serum cytokine production and inflammatory cells in the peritoneum following i.p. lipopolysaccharide injection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,638,795	V398A	probably benign	Het
A430033K04Rik	T	A	5: 138,646,297	V148E	probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Ankrd26	T	A	6: 118,508,575	Q1446L	possibly damaging	Het
Anks6	A	T	4: 47,038,900		probably benign	Het
Arrb2	T	C	11: 70,438,658	S265P	probably damaging	Het
Baiap2	T	C	11: 119,996,670	S264P	probably damaging	Het
Cadps2	A	G	6: 23,329,104	V938A	probably damaging	Het
Cavin4	G	T	4: 48,663,907	V96F	probably damaging	Het
Cenpe	T	C	3: 135,259,388		probably null	Het
Crocc2	C	A	1: 93,215,641	Q1322K	probably benign	Het
Cryzl2	T	A	1: 157,461,976	C61*	probably null	Het
Dazl	T	C	17: 50,288,690	I56V	probably benign	Het
Dnah12	A	T	14: 26,735,749	D890V	probably damaging	Het
Dnah9	C	A	11: 66,095,314	E1165*	probably null	Het
Dnmt3l	T	A	10: 78,056,831		probably null	Het
Elp2	A	G	18: 24,606,903	N62S	possibly damaging	Het
Fam216b	T	A	14: 78,085,063	H26L	possibly damaging	Het
Fbxw25	T	A	9: 109,652,886	Q244L	possibly damaging	Het
G530012D18Rik	G	C	1: 85,577,202		probably benign	Het
Gm1966	T	C	7: 106,598,235		noncoding transcript	Het
Gm5724	A	G	6: 141,740,467	F216L	probably benign	Het
Igf2r	T	C	17: 12,725,416	Y400C	probably damaging	Het
Iqcc	A	G	4: 129,618,620	F20L	probably benign	Het
Klhl5	T	A	5: 65,141,282	L135M	possibly damaging	Het
Klk1b16	A	T	7: 44,140,988	M196L	possibly damaging	Het
Ltf	T	C	9: 111,029,651	M489T	possibly damaging	Het
Mctp2	G	T	7: 72,214,087	R343S	possibly damaging	Het
Nbas	T	A	12: 13,534,577		probably null	Het
Ncr1	A	T	7: 4,340,933	M177L	probably benign	Het
Net1	C	T	13: 3,886,170	E305K	probably damaging	Het
Nfx1	T	C	4: 40,985,000	F375L	probably damaging	Het
Notch3	T	A	17: 32,139,189	I1687L	probably benign	Het
Obsl1	A	T	1: 75,503,261		probably benign	Het
Olfr1000	A	G	2: 85,608,283	F209S	probably benign	Het
Olfr1052	G	A	2: 86,298,217	V134M	possibly damaging	Het
Olfr325	C	G	11: 58,580,999	L52V	possibly damaging	Het
Olfr507	A	C	7: 108,622,717	I302L	probably damaging	Het
Olfr620	G	T	7: 103,611,590	Y254*	probably null	Het
Olfr698	A	T	7: 106,753,083	F102I	probably damaging	Het
Orai1	A	T	5: 123,029,501	M246L	probably benign	Het
Pcdhga12	G	A	18: 37,766,732	A206T	probably damaging	Het
Plxdc2	C	A	2: 16,650,187	T199K	probably damaging	Het
Prkd1	T	A	12: 50,343,137	I819F	probably damaging	Het
Ptpn9	T	C	9: 57,056,837		probably benign	Het
Rabl6	T	C	2: 25,588,654	E255G	probably damaging	Het
Sdccag3	T	C	2: 26,385,547	D244G	probably damaging	Het
Sema3e	T	C	5: 14,236,085		probably benign	Het
Serpina3c	T	C	12: 104,149,440	M282V	possibly damaging	Het
Slco2b1	A	G	7: 99,685,925	I216T	probably damaging	Het
Slco6b1	T	C	1: 96,988,584		noncoding transcript	Het
Slco6d1	A	T	1: 98,443,644	I285F	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Sp9	C	A	2: 73,274,297	N398K	probably damaging	Het
Sycp2	A	C	2: 178,377,702		probably null	Het
Tdpoz3	A	G	3: 93,826,872	R285G	probably benign	Het
Trim2	T	A	3: 84,167,653	Q694L	probably null	Het
Trim23	T	A	13: 104,192,033	V293D	probably damaging	Het
Ttn	A	G	2: 76,834,839		probably benign	Het
Vmn2r12	T	A	5: 109,090,395	Y493F	probably benign	Het
Vps41	T	A	13: 18,862,538	I753N	probably damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Yme1l1	G	A	2: 23,193,234	G571R	probably damaging	Het
Zfp322a	A	T	13: 23,356,979	C198S	probably damaging	Het

Other mutations in Tbc1d23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Tbc1d23	APN	16	57171776	missense	probably damaging	1.00
IGL01063:Tbc1d23	APN	16	57192675	missense	probably benign	0.04
IGL01951:Tbc1d23	APN	16	57186685	splice site	probably benign
IGL01980:Tbc1d23	APN	16	57189252	splice site	probably benign
IGL02457:Tbc1d23	APN	16	57170391	missense	probably damaging	1.00
IGL02937:Tbc1d23	APN	16	57184415	missense	possibly damaging	0.94
IGL03226:Tbc1d23	APN	16	57214262	missense	probably damaging	1.00
R0386:Tbc1d23	UTSW	16	57189273	missense	probably damaging	1.00
R0472:Tbc1d23	UTSW	16	57173106	missense	possibly damaging	0.74
R0479:Tbc1d23	UTSW	16	57171814	missense	probably damaging	1.00
R0609:Tbc1d23	UTSW	16	57173106	missense	possibly damaging	0.74
R1124:Tbc1d23	UTSW	16	57214162	critical splice donor site	probably null
R1430:Tbc1d23	UTSW	16	57214210	missense	probably damaging	1.00
R1797:Tbc1d23	UTSW	16	57173100	missense	possibly damaging	0.90
R1978:Tbc1d23	UTSW	16	57189351	missense	probably benign
R4675:Tbc1d23	UTSW	16	57182962	missense	possibly damaging	0.72
R4756:Tbc1d23	UTSW	16	57198895	frame shift	probably null
R4781:Tbc1d23	UTSW	16	57218415	missense	possibly damaging	0.87
R4799:Tbc1d23	UTSW	16	57192628	missense	probably benign	0.01
R4895:Tbc1d23	UTSW	16	57198857	critical splice donor site	probably null
R5601:Tbc1d23	UTSW	16	57198309	missense	probably benign	0.02
R6041:Tbc1d23	UTSW	16	57173150	missense	probably benign	0.14
R6176:Tbc1d23	UTSW	16	57171789	missense	probably damaging	1.00
R6195:Tbc1d23	UTSW	16	57231350	missense	possibly damaging	0.56
R6228:Tbc1d23	UTSW	16	57182903	missense	probably damaging	0.98
R6232:Tbc1d23	UTSW	16	57170433	missense	probably benign	0.39
R6484:Tbc1d23	UTSW	16	57178016	missense	probably damaging	1.00
R6670:Tbc1d23	UTSW	16	57214217	missense	probably benign	0.00
R6957:Tbc1d23	UTSW	16	57208323	missense	probably damaging	1.00
R7218:Tbc1d23	UTSW	16	57170382	missense	probably damaging	1.00
R7601:Tbc1d23	UTSW	16	57181534	missense	probably benign	0.10
R7877:Tbc1d23	UTSW	16	57173125	missense	probably benign	0.35
R7886:Tbc1d23	UTSW	16	57189383	missense	possibly damaging	0.95
R8202:Tbc1d23	UTSW	16	57191554	missense	probably damaging	1.00
R8927:Tbc1d23	UTSW	16	57171789	missense	probably damaging	1.00
R8928:Tbc1d23	UTSW	16	57171789	missense	probably damaging	1.00
R9240:Tbc1d23	UTSW	16	57212385	missense	possibly damaging	0.89
R9405:Tbc1d23	UTSW	16	57192622	missense	possibly damaging	0.91
R9522:Tbc1d23	UTSW	16	57198744	missense	probably benign	0.37
R9772:Tbc1d23	UTSW	16	57170402	missense	probably damaging	1.00
Z1177:Tbc1d23	UTSW	16	57182975	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGAGCTGAGATCAAATGACCTC -3'
(R):5'- CCTTTGGACGGCATATGCTC -3'

Sequencing Primer
(F):5'- GGATAACTTCTTCTTTGCTGTCAGAC -3'
(R):5'- GCTCAAGTGCAGATGACTTCATG -3'

Posted On

2016-08-04