Mutagenetix > Incidental Mutation

Incidental Mutation 'R7601:Tbc1d23'

588028

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.813) question?

Stock #

R7601 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57168862-57231504 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57181534 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 519 (M519K)

Ref Sequence

ENSEMBL: ENSMUSP00000154535 (fasta)

Gene Model

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

AlphaFold

Q8K0F1

Predicted Effect

probably benign
Transcript: ENSMUST00000023431

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749

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 benign
Transcript: ENSMUST00000226586
AA Change: M519K

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (40/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 35,895,849	L16P	probably damaging	Het
Abcc5	A	T	16: 20,375,132	Y746*	probably null	Het
Abcd4	A	G	12: 84,613,945	Y129H	possibly damaging	Het
Acot10	T	C	15: 20,665,629	D342G	probably damaging	Het
Als2	G	T	1: 59,170,002	T1466K	probably benign	Het
Calcr	A	T	6: 3,687,603	I465N	probably benign	Het
Ccndbp1	T	C	2: 121,016,146	S309P	probably damaging	Het
Cdh22	A	G	2: 165,112,546	L685P	probably damaging	Het
Cenps	A	G	4: 149,132,315	V39A	possibly damaging	Het
Dbr1	G	T	9: 99,582,602	E145*	probably null	Het
Dync1i1	T	A	6: 5,905,129	V161E	probably benign	Het
F10	A	G	8: 13,050,781	T232A	probably benign	Het
Faim2	C	T	15: 99,500,266	G279D	probably damaging	Het
Fam102b	T	A	3: 108,988,312	T151S	possibly damaging	Het
Fam114a2	T	C	11: 57,514,216	K20R	possibly damaging	Het
Hspa4l	T	C	3: 40,784,356		probably null	Het
Impg2	A	T	16: 56,260,031	I733L	probably benign	Het
Itga11	T	C	9: 62,696,926	V32A	probably benign	Het
Lima1	G	A	15: 99,819,696	P143L	probably benign	Het
Lum	A	T	10: 97,568,306	Y21F	probably damaging	Het
Muc6	A	G	7: 141,636,541	S2740P	unknown	Het
Nav1	A	T	1: 135,460,438	D1082E	unknown	Het
Nmur1	A	C	1: 86,388,019	C41W	probably damaging	Het
Olfr1281	T	C	2: 111,329,220	V267A	probably benign	Het
Olfr195	A	G	16: 59,149,234	N128S	probably benign	Het
Olfr288	G	A	15: 98,186,979	H273Y	probably damaging	Het
Olfr890	T	C	9: 38,143,378	V76A	probably benign	Het
Pdcd11	T	C	19: 47,106,369	S531P	not run	Het
Phtf1	T	A	3: 103,993,845	H403Q	probably benign	Het
Piezo1	C	T	8: 122,483,481		probably null	Het
Pigh	G	A	12: 79,085,705	T111I	probably damaging	Het
Plekhf1	T	C	7: 38,221,880	E88G	probably damaging	Het
Pnliprp1	C	T	19: 58,732,094	T134M	probably damaging	Het
Ptges	T	A	2: 30,892,797	Y81F	probably benign	Het
Sema7a	T	C	9: 57,940,277	S43P	probably benign	Het
Sephs2	A	T	7: 127,272,946	I325K	probably damaging	Het
Slc45a1	A	T	4: 150,629,537	N750K	possibly damaging	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Trdn	A	G	10: 33,196,156	E273G	probably benign	Het
Ubtf	G	A	11: 102,306,654	S724F	unknown	Het
Was	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	X: 8,086,211		probably benign	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
R5389:Tbc1d23	UTSW	16	57198928	missense	probably damaging	1.00
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
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'- TCCCATGAGCAGACTGACAAG -3'
(R):5'- AAGTGCACTCGTTTACTTTTGAGG -3'

Sequencing Primer
(F):5'- CTGACAAGAGGGAAGCTCC -3'
(R):5'- GACTGTCGTCTGGTGAAGTATCAC -3'

Posted On

2019-10-24