Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Tbc1d23'

502885

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

044335-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57168862-57231504 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57231350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 6 (E6G)

Ref Sequence

ENSEMBL: ENSMUSP00000153899 (fasta)

Gene Model

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

AlphaFold

Q8K0F1

Predicted Effect

probably benign
Transcript: ENSMUST00000023431
AA Change: E6G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: E6G

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: E6G

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227359

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228172
AA Change: E6G

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 193,174,834		probably null	Het
Abtb1	T	C	6: 88,840,736	E50G	probably benign	Het
Agbl2	T	A	2: 90,813,313	D792E	probably benign	Het
Aoc1	C	A	6: 48,908,677	N705K	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,822,017	T701I	probably damaging	Het
Atg10	G	T	13: 91,208,436		probably null	Het
Atp5c1	T	C	2: 10,064,115	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,907,511	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346	D260G	probably benign	Het
Cyp1b1	G	T	17: 79,714,266	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537	S1205T	probably benign	Het
Dlec1	A	G	9: 119,137,253	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,204,269	D1578N	probably damaging	Het
Dok3	T	C	13: 55,523,576	N394S	probably benign	Het
Efhb	A	G	17: 53,462,552	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,784,205	N34S	probably null	Het
F2rl3	A	G	8: 72,762,885	T247A	probably benign	Het
Fam196a	T	C	7: 134,918,648	D51G	probably damaging	Het
Fan1	A	T	7: 64,354,371	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,375,286		probably null	Het
Fer1l6	T	C	15: 58,637,957	S1423P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fgfbp1	T	C	5: 43,979,362	D196G	possibly damaging	Het
Fxn	G	A	19: 24,262,043	R162C	probably damaging	Het
Fxr2	C	T	11: 69,652,273	T632M	probably benign	Het
Gab1	A	T	8: 80,879,532	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114	N94S	probably benign	Het
Gm17018	A	G	19: 45,577,019	D144G	probably damaging	Het
Gm5538	G	A	3: 59,752,202	V359I	probably damaging	Het
Gm5799	T	G	14: 43,544,631	L87V	probably damaging	Het
Golga7b	A	T	19: 42,263,447	D44V	probably benign	Het
Hace1	T	A	10: 45,670,443	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,384,115	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,245,701	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,896,491	T68S	possibly damaging	Het
Itpr3	T	C	17: 27,086,960	I164T	probably damaging	Het
Kif22	A	G	7: 127,028,959	S540P	probably damaging	Het
Ldlr	T	A	9: 21,731,781	C34*	probably null	Het
Lrrtm4	T	C	6: 80,021,956	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,537,628	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,695,326	H661Q	probably damaging	Het
Mical3	T	A	6: 121,016,835		probably benign	Het
Mipep	T	A	14: 60,872,105	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920	D171G	probably damaging	Het
Myof	A	G	19: 37,913,357	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,203,749	R46H	probably damaging	Het
Nf1	A	G	11: 79,565,975	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560	S190P	possibly damaging	Het
Olfr205	A	G	16: 59,329,422	V29A	possibly damaging	Het
Olfr648	A	T	7: 104,179,754	V218D	possibly damaging	Het
Pcdh20	T	C	14: 88,468,052	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,342,656	V282I	probably benign	Het
Pcnx4	A	G	12: 72,556,874	D523G	possibly damaging	Het
Pigx	G	A	16: 32,084,586	T219I	probably damaging	Het
Plch1	G	T	3: 63,740,789	P399Q	probably damaging	Het
Pvrig	T	A	5: 138,342,275	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,926,802	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 104,001,407	H243L	probably damaging	Het
Tapbp	T	C	17: 33,919,982	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tdrd6	A	G	17: 43,629,752	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,392,175		probably null	Het
Tnrc18	T	A	5: 142,765,173	K1217N	unknown	Het
Trim33	G	A	3: 103,337,532		probably null	Het
Ttn	T	A	2: 76,737,653	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,122,791	D9E	probably benign	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,243,762	F143L	possibly 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
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
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'- TTAGGCGCAGATCCAGGATG -3'
(R):5'- GTGGTGACGTTGCATCCTTC -3'

Sequencing Primer
(F):5'- TGAGTCCCCGGGATTCTG -3'
(R):5'- GGTGACGTTGCATCCTTCCAATTC -3'

Posted On

2018-02-27