Mutagenetix > Incidental Mutation

Incidental Mutation 'R0472:Tbc1d23'

46850

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

038672-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R0472 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56989225-57051867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56993469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 566 (I566F)

Ref Sequence

ENSEMBL: ENSMUSP00000023431 (fasta)

Gene Model

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

AlphaFold

Q8K0F1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023431
AA Change: I566F

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: I566F

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

noncoding transcript
Transcript: ENSMUST00000180999

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226586
AA Change: I581F

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227681

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (65/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,123 (GRCm39)		noncoding transcript	Het
AI182371	T	C	2: 34,975,218 (GRCm39)	N337S	probably benign	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Arap2	A	G	5: 62,864,002 (GRCm39)	F541L	probably damaging	Het
Asap2	G	T	12: 21,263,186 (GRCm39)	R267L	possibly damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
C1ra	T	A	6: 124,494,403 (GRCm39)	D283E	possibly damaging	Het
Cacul1	G	T	19: 60,531,464 (GRCm39)	H268Q	probably damaging	Het
Cd9	T	C	6: 125,449,396 (GRCm39)	N49D	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cep290	G	A	10: 100,387,317 (GRCm39)	G1935E	probably benign	Het
Cep350	A	T	1: 155,790,469 (GRCm39)	I1362N	probably damaging	Het
Chchd7	A	T	4: 3,943,416 (GRCm39)	N61I	possibly damaging	Het
Clca3a1	A	T	3: 144,733,106 (GRCm39)	L134Q	probably damaging	Het
Clec2j	T	C	6: 128,633,565 (GRCm39)		noncoding transcript	Het
Clvs1	G	A	4: 9,281,801 (GRCm39)	A82T	probably damaging	Het
Csn1s1	A	T	5: 87,825,486 (GRCm39)	Y231F	possibly damaging	Het
Cyp2c55	A	T	19: 39,019,823 (GRCm39)	T254S	probably benign	Het
Decr1	A	G	4: 15,919,849 (GRCm39)	S290P	probably damaging	Het
Dnai2	T	A	11: 114,636,015 (GRCm39)		probably benign	Het
Dock4	C	A	12: 40,888,437 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Elmo2	A	G	2: 165,140,250 (GRCm39)	I315T	probably damaging	Het
Fcho2	A	G	13: 98,884,775 (GRCm39)	F431L	probably benign	Het
Fez2	A	G	17: 78,692,261 (GRCm39)		probably benign	Het
Gas2l3	C	T	10: 89,262,339 (GRCm39)	A128T	probably damaging	Het
Hpse2	T	C	19: 43,001,602 (GRCm39)	I222M	probably damaging	Het
Katnip	A	G	7: 125,472,139 (GRCm39)	N1548S	probably damaging	Het
Kcna2	A	G	3: 107,012,832 (GRCm39)	D471G	probably benign	Het
Kcnj13	T	A	1: 87,314,568 (GRCm39)	Y218F	probably benign	Het
Kif1a	T	C	1: 92,946,719 (GRCm39)	H1763R	probably damaging	Het
Krt1c	C	T	15: 101,721,688 (GRCm39)	R451H	probably damaging	Het
Lama2	A	G	10: 26,866,863 (GRCm39)	V2877A	probably damaging	Het
Lrrc2	A	T	9: 110,791,685 (GRCm39)	M80L	probably benign	Het
Naip6	A	G	13: 100,438,768 (GRCm39)	V343A	probably benign	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nif3l1	A	C	1: 58,486,987 (GRCm39)	S58R	probably damaging	Het
Or51h7	A	T	7: 102,591,258 (GRCm39)	C175*	probably null	Het
Or5w20	T	A	2: 87,726,837 (GRCm39)	V98E	possibly damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Pask	A	T	1: 93,248,639 (GRCm39)	D920E	probably benign	Het
Pclo	T	C	5: 14,731,608 (GRCm39)	V3370A	unknown	Het
Ptpn21	G	A	12: 98,670,499 (GRCm39)		probably benign	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Rsad2	T	G	12: 26,504,167 (GRCm39)	I121L	possibly damaging	Het
Sergef	T	G	7: 46,283,170 (GRCm39)		probably benign	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Tas2r104	T	C	6: 131,662,434 (GRCm39)	I92V	probably benign	Het
Tasor2	A	G	13: 3,638,364 (GRCm39)	S456P	possibly damaging	Het
Tbc1d9b	A	G	11: 50,059,055 (GRCm39)		probably null	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tpo	A	G	12: 30,150,485 (GRCm39)	V465A	probably benign	Het
Ttll3	A	T	6: 113,386,300 (GRCm39)	Q711L	probably damaging	Het
Ttn	C	T	2: 76,783,385 (GRCm39)	R869H	probably benign	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Usp34	T	C	11: 23,334,509 (GRCm39)		probably benign	Het
Vmn1r17	C	A	6: 57,338,304 (GRCm39)	M20I	probably benign	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r120	C	T	17: 57,831,518 (GRCm39)	V424I	probably benign	Het
Vps13b	T	C	15: 35,417,779 (GRCm39)		probably null	Het
Wdfy3	C	A	5: 102,105,309 (GRCm39)	A173S	probably benign	Het
Wdr59	T	C	8: 112,213,629 (GRCm39)		probably null	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp808	T	A	13: 62,320,120 (GRCm39)	F450I	probably damaging	Het

Other mutations in Tbc1d23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Tbc1d23	APN	16	56,992,139 (GRCm39)	missense	probably damaging	1.00
IGL01063:Tbc1d23	APN	16	57,013,038 (GRCm39)	missense	probably benign	0.04
IGL01951:Tbc1d23	APN	16	57,007,048 (GRCm39)	splice site	probably benign
IGL01980:Tbc1d23	APN	16	57,009,615 (GRCm39)	splice site	probably benign
IGL02457:Tbc1d23	APN	16	56,990,754 (GRCm39)	missense	probably damaging	1.00
IGL02937:Tbc1d23	APN	16	57,004,778 (GRCm39)	missense	possibly damaging	0.94
IGL03226:Tbc1d23	APN	16	57,034,625 (GRCm39)	missense	probably damaging	1.00
R0386:Tbc1d23	UTSW	16	57,009,636 (GRCm39)	missense	probably damaging	1.00
R0479:Tbc1d23	UTSW	16	56,992,177 (GRCm39)	missense	probably damaging	1.00
R0609:Tbc1d23	UTSW	16	56,993,469 (GRCm39)	missense	possibly damaging	0.74
R1124:Tbc1d23	UTSW	16	57,034,525 (GRCm39)	critical splice donor site	probably null
R1430:Tbc1d23	UTSW	16	57,034,573 (GRCm39)	missense	probably damaging	1.00
R1797:Tbc1d23	UTSW	16	56,993,463 (GRCm39)	missense	possibly damaging	0.90
R1978:Tbc1d23	UTSW	16	57,009,714 (GRCm39)	missense	probably benign
R4675:Tbc1d23	UTSW	16	57,003,325 (GRCm39)	missense	possibly damaging	0.72
R4756:Tbc1d23	UTSW	16	57,019,258 (GRCm39)	frame shift	probably null
R4781:Tbc1d23	UTSW	16	57,038,778 (GRCm39)	missense	possibly damaging	0.87
R4799:Tbc1d23	UTSW	16	57,012,991 (GRCm39)	missense	probably benign	0.01
R4895:Tbc1d23	UTSW	16	57,019,220 (GRCm39)	critical splice donor site	probably null
R5389:Tbc1d23	UTSW	16	57,019,291 (GRCm39)	missense	probably damaging	1.00
R5601:Tbc1d23	UTSW	16	57,018,672 (GRCm39)	missense	probably benign	0.02
R6041:Tbc1d23	UTSW	16	56,993,513 (GRCm39)	missense	probably benign	0.14
R6176:Tbc1d23	UTSW	16	56,992,152 (GRCm39)	missense	probably damaging	1.00
R6195:Tbc1d23	UTSW	16	57,051,713 (GRCm39)	missense	possibly damaging	0.56
R6228:Tbc1d23	UTSW	16	57,003,266 (GRCm39)	missense	probably damaging	0.98
R6232:Tbc1d23	UTSW	16	56,990,796 (GRCm39)	missense	probably benign	0.39
R6484:Tbc1d23	UTSW	16	56,998,379 (GRCm39)	missense	probably damaging	1.00
R6670:Tbc1d23	UTSW	16	57,034,580 (GRCm39)	missense	probably benign	0.00
R6957:Tbc1d23	UTSW	16	57,028,686 (GRCm39)	missense	probably damaging	1.00
R7218:Tbc1d23	UTSW	16	56,990,745 (GRCm39)	missense	probably damaging	1.00
R7601:Tbc1d23	UTSW	16	57,001,897 (GRCm39)	missense	probably benign	0.10
R7877:Tbc1d23	UTSW	16	56,993,488 (GRCm39)	missense	probably benign	0.35
R7886:Tbc1d23	UTSW	16	57,009,746 (GRCm39)	missense	possibly damaging	0.95
R8202:Tbc1d23	UTSW	16	57,011,917 (GRCm39)	missense	probably damaging	1.00
R8927:Tbc1d23	UTSW	16	56,992,152 (GRCm39)	missense	probably damaging	1.00
R8928:Tbc1d23	UTSW	16	56,992,152 (GRCm39)	missense	probably damaging	1.00
R9240:Tbc1d23	UTSW	16	57,032,748 (GRCm39)	missense	possibly damaging	0.89
R9405:Tbc1d23	UTSW	16	57,012,985 (GRCm39)	missense	possibly damaging	0.91
R9522:Tbc1d23	UTSW	16	57,019,107 (GRCm39)	missense	probably benign	0.37
R9772:Tbc1d23	UTSW	16	56,990,765 (GRCm39)	missense	probably damaging	1.00
Z1177:Tbc1d23	UTSW	16	57,003,338 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCGGGCAAAGTGATGGCATCAG -3'
(R):5'- TCCACATGCTAAGAAGTGTTCACATGG -3'

Sequencing Primer
(F):5'- TGTCAGAAACTGCTGGTACTC -3'
(R):5'- GTGTCCACATGCTAAGAAGTGTTC -3'

Posted On

2013-06-11