Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Tbc1d23'

543467

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

044616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R6484 (G1)

Quality Score

62.0073

Status

Validated

Chromosome

Chromosomal Location

56989225-57051867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56998379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 520 (V520M)

Ref Sequence

ENSEMBL: ENSMUSP00000023431 (fasta)

Gene Model

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

AlphaFold

Q8K0F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023431
AA Change: V520M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: V520M

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,416,952 (GRCm39)	M353K	probably damaging	Het
Adgre4	G	A	17: 56,109,036 (GRCm39)	V348M	possibly damaging	Het
Alg8	T	C	7: 97,032,135 (GRCm39)	V228A	probably benign	Het
Bltp2	T	C	11: 78,169,921 (GRCm39)	V1548A	probably damaging	Het
Btbd8	T	C	5: 107,651,451 (GRCm39)	S115P	probably benign	Het
Car8	A	G	4: 8,189,362 (GRCm39)	F151L	probably benign	Het
CN725425	A	G	15: 91,144,775 (GRCm39)	Q546R	probably benign	Het
Col17a1	C	T	19: 47,658,868 (GRCm39)	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,719,645 (GRCm39)		probably null	Het
Cyp51	G	A	5: 4,136,627 (GRCm39)	T389M	probably benign	Het
Cyren	G	A	6: 34,851,551 (GRCm39)	S101L	probably damaging	Het
Dazap1	A	G	10: 80,113,481 (GRCm39)	T126A	probably benign	Het
Dscc1	T	A	15: 54,943,686 (GRCm39)	K395*	probably null	Het
Dthd1	A	G	5: 62,971,675 (GRCm39)	N166S	probably benign	Het
Eefsec	C	G	6: 88,274,770 (GRCm39)	W398S	probably damaging	Het
Enpep	T	A	3: 129,115,130 (GRCm39)	H214L	probably damaging	Het
Esf1	T	C	2: 140,000,458 (GRCm39)	I443V	probably benign	Het
Espl1	T	C	15: 102,231,935 (GRCm39)	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,468,983 (GRCm39)	S280P	probably damaging	Het
Il12rb1	C	T	8: 71,262,348 (GRCm39)		probably null	Het
Itgax	T	A	7: 127,732,890 (GRCm39)	C255S	probably benign	Het
Kifc5b	T	C	17: 27,143,746 (GRCm39)	V506A	probably damaging	Het
Klf3	A	G	5: 64,980,372 (GRCm39)	E54G	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,836,744 (GRCm39)	I104V	probably benign	Het
Mdga2	T	C	12: 66,676,843 (GRCm39)	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,515,788 (GRCm39)	E160G	possibly damaging	Het
Myh10	T	A	11: 68,590,293 (GRCm39)	I76N	probably damaging	Het
Myh7b	A	T	2: 155,470,563 (GRCm39)	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,849,780 (GRCm39)	V499I	probably damaging	Het
Or2h1	T	A	17: 37,404,158 (GRCm39)	I203F	probably benign	Het
Or4f58	A	T	2: 111,851,764 (GRCm39)	L145*	probably null	Het
Or5b105	A	G	19: 13,080,431 (GRCm39)	V79A	probably benign	Het
P2ry12	A	G	3: 59,124,754 (GRCm39)	L307P	probably damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Phox2b	A	G	5: 67,255,044 (GRCm39)	I135T	possibly damaging	Het
Poln	C	T	5: 34,286,857 (GRCm39)	A104T	probably benign	Het
Prkce	A	G	17: 86,798,237 (GRCm39)	D342G	probably benign	Het
Ptchd3	T	A	11: 121,733,764 (GRCm39)	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,414,490 (GRCm39)	S434C	probably damaging	Het
Rfc1	A	G	5: 65,451,020 (GRCm39)	V356A	probably benign	Het
Rln1	A	G	19: 29,311,902 (GRCm39)	F32S	probably benign	Het
Ryr2	A	G	13: 11,677,269 (GRCm39)	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,513,353 (GRCm39)	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,899,784 (GRCm39)	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,697,104 (GRCm39)	V206G	probably damaging	Het
Slit3	A	T	11: 35,552,125 (GRCm39)	M890L	probably benign	Het
Sorl1	A	G	9: 41,887,703 (GRCm39)	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,451,600 (GRCm39)	V9E	probably damaging	Het
Thumpd2	T	C	17: 81,361,617 (GRCm39)	E203G	probably benign	Het
Tlr11	A	G	14: 50,600,135 (GRCm39)	D707G	probably damaging	Het
Tlr12	T	A	4: 128,509,847 (GRCm39)	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,763,525 (GRCm39)	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,362,918 (GRCm39)	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,304,540 (GRCm39)	C630*	probably null	Het
Zbtb1	C	T	12: 76,432,665 (GRCm39)	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zzef1	C	T	11: 72,786,097 (GRCm39)	P2090S	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
R0472:Tbc1d23	UTSW	16	56,993,469 (GRCm39)	missense	possibly damaging	0.74
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
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'- TTCCTGCTAGGGAAGTCCTC -3'
(R):5'- GCACATGGCTGGATAGAATGGC -3'

Sequencing Primer
(F):5'- CTGCTAGGGAAGTCCTCCTGATAAG -3'
(R):5'- TGGCTGGATAGAATGGCCCATG -3'

Posted On

2019-01-09