Mutagenetix > Incidental Mutation

Incidental Mutation 'R5601:Tbc1d23'

439044

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

043153-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R5601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57168862-57231504 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57198309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 283 (C283F)

Ref Sequence

ENSEMBL: ENSMUSP00000023431 (fasta)

Gene Model

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

AlphaFold

Q8K0F1

Predicted Effect

probably benign
Transcript: ENSMUST00000023431
AA Change: C283F

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: C283F

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: C283F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000228172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231435

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.3%

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	G	A	13: 91,782,910	V426I	probably benign	Het
Asmt	T	C	X: 170,676,392	V212A	probably damaging	Het
Atn1	A	G	6: 124,743,228		probably null	Het
Auts2	G	T	5: 131,476,823		probably benign	Het
AW551984	C	T	9: 39,591,267	V672M	possibly damaging	Het
Ccdc13	G	A	9: 121,800,572	Q114*	probably null	Het
Ces2e	A	T	8: 104,929,494	I146F	probably benign	Het
Cfap44	A	G	16: 44,460,186	K1443E	probably damaging	Het
Cma2	T	A	14: 55,973,789	H179Q	possibly damaging	Het
Cpsf2	G	T	12: 101,985,355		probably null	Het
Cwh43	A	G	5: 73,417,940		probably null	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dram1	A	G	10: 88,324,767	S231P	probably damaging	Het
Fbxw7	A	G	3: 84,976,208	D482G	probably damaging	Het
Fstl1	T	C	16: 37,826,799	I177T	probably benign	Het
Fut9	T	C	4: 25,620,299	T172A	probably benign	Het
Gm10436	T	C	12: 88,176,047	D267G	probably damaging	Het
Gm5134	G	A	10: 75,985,952	V207M	probably damaging	Het
Hccs	G	A	X: 169,313,601	R203C	probably damaging	Het
Hmgxb3	A	T	18: 61,137,622	F877I	probably damaging	Het
Ide	A	G	19: 37,314,980	V272A	unknown	Het
Impact	C	T	18: 12,976,007	T65I	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Muc3	A	G	5: 137,138,015	S309P	probably damaging	Het
Myf6	A	C	10: 107,494,614	S31A	probably damaging	Het
Olfr733	C	A	14: 50,298,861	W149C	probably damaging	Het
Olfr881	C	G	9: 37,992,714	T74R	possibly damaging	Het
P4hb	T	A	11: 120,571,615	E88D	possibly damaging	Het
Pcdhb9	T	C	18: 37,402,206	C418R	probably damaging	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prss58	A	T	6: 40,897,849	N19K	possibly damaging	Het
Ptprq	C	T	10: 107,608,430	A1438T	probably benign	Het
Rfx4	A	T	10: 84,798,578	T61S	probably damaging	Het
Sclt1	T	A	3: 41,730,919	N35Y	probably benign	Het
Sec24b	CTG	CTGGTG	3: 130,040,834		probably benign	Het
Serpinb12	T	C	1: 106,953,697	I188T	probably damaging	Het
Slc27a4	A	T	2: 29,805,660	Y69F	probably benign	Het
Slc3a1	T	C	17: 85,032,891	V247A	probably benign	Het
Slc4a2	C	T	5: 24,438,774	T854I	probably benign	Het
Stat5b	G	A	11: 100,783,175	T761M	probably damaging	Het
Stkld1	T	C	2: 26,952,705	L563P	probably damaging	Het
Tcaf3	T	C	6: 42,587,528	N900S	possibly damaging	Het
Tkfc	T	C	19: 10,594,563	T370A	probably benign	Het
Tpr	T	C	1: 150,435,853	V1868A	possibly damaging	Het
Triobp	T	A	15: 78,973,633	W1145R	probably damaging	Het
Uhrf1bp1	C	A	17: 27,884,494	A392D	probably damaging	Het
Vmn2r82	T	G	10: 79,396,191	L675V	probably damaging	Het
Zfp423	T	C	8: 87,782,009	E444G	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
R5389:Tbc1d23	UTSW	16	57198928	missense	probably damaging	1.00
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'- CAGGTCCGGTCTGTTGACTATG -3'
(R):5'- CCACCGAGGTGTTACTTATGGG -3'

Sequencing Primer
(F):5'- ATGTCACCAGTTGGCACAG -3'
(R):5'- ACTTATGGGTCGCTTATGTTAGAGC -3'

Posted On

2016-10-26