Mutagenetix > Incidental Mutation

Incidental Mutation 'R1978:Tbc1d23'

222072

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

039991-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.724) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57168862-57231504 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57189351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 392 (I392V)

Ref Sequence

ENSEMBL: ENSMUSP00000154535 (fasta)

Gene Model

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

AlphaFold

Q8K0F1

Predicted Effect

probably benign
Transcript: ENSMUST00000023431
AA Change: I392V

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

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: I392V

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: I392V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231435

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537	C205*	probably null	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably benign	Het
4921539E11Rik	T	A	4: 103,270,764	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158		probably null	Het
Cfap57	A	G	4: 118,593,132	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965		probably benign	Het
Hck	G	T	2: 153,129,856	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007		probably null	Het
Inpp5j	G	A	11: 3,502,150	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597		probably null	Het
Loxhd1	T	A	18: 77,321,642	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304		probably null	Het
Mkln1	C	T	6: 31,490,530	Q60*	probably null	Het
Mybph	C	A	1: 134,196,996	H185N	probably benign	Het
Myo1g	T	C	11: 6,520,829	D9G	possibly damaging	Het
Myo6	A	T	9: 80,228,925	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,691,299	V412A	probably benign	Het
Neb	T	C	2: 52,287,345	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973		probably null	Het
Plcg1	A	G	2: 160,752,578		probably null	Het
Pnldc1	A	G	17: 12,906,505	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,999,488		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scly	A	G	1: 91,320,169	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795	R996*	probably null	Het
Slc6a13	A	T	6: 121,332,373	D281V	probably damaging	Het
Slfn5	T	C	11: 82,956,616	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719		probably null	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292	C1417F	possibly damaging	Het
Tchh	T	C	3: 93,446,799	L1182P	unknown	Het
Tle3	T	A	9: 61,394,633	V108E	probably damaging	Het
Tmem144	T	C	3: 79,825,400		probably null	Het
Tpr	T	G	1: 150,419,907	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922	I46R	probably damaging	Het
Zfp976	A	G	7: 42,613,841	C191R	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
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
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'- TGGCACAGTAATTTTCCTACCTCAC -3'
(R):5'- GAGGAGTGTTTGTCTCAGCC -3'

Sequencing Primer
(F):5'- CTACCTCACTTCCTACATGAAAATAG -3'
(R):5'- GTCTCAGCCTTTGTTCCAATATATAC -3'

Posted On

2014-08-25