Mutagenetix > Incidental Mutation

Incidental Mutation 'R4675:Tbc1d23'

349534

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

041930-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.792) question?

Stock #

R4675 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56989225-57051867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57003325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 481 (R481I)

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: R481I

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: R481I

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: ENSMUST00000226486

Predicted Effect

probably benign
Transcript: ENSMUST00000226586
AA Change: R481I

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227681

Meta Mutation Damage Score

0.0615

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (89/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	A	17: 36,203,820 (GRCm39)	K291N	probably damaging	Het
Adgra1	A	G	7: 139,456,102 (GRCm39)	T577A	probably damaging	Het
Akip1	T	A	7: 109,308,188 (GRCm39)	I152N	possibly damaging	Het
Armc9	A	G	1: 86,130,240 (GRCm39)	Y8C	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Atp2a3	A	T	11: 72,872,623 (GRCm39)	T724S	probably damaging	Het
Bmp1	C	A	14: 70,730,284 (GRCm39)	R416L	probably damaging	Het
Bmt2	G	T	6: 13,663,300 (GRCm39)	A66E	probably benign	Het
Bscl2	A	T	19: 8,825,523 (GRCm39)	D403V	possibly damaging	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Cdhr18	A	T	14: 13,856,724 (GRCm38)	D462E	probably benign	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Cntnap4	A	G	8: 113,512,468 (GRCm39)	Y610C	probably damaging	Het
Col11a2	T	C	17: 34,283,267 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,651,497 (GRCm39)		probably null	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Dgkz	T	A	2: 91,768,691 (GRCm39)	K697*	probably null	Het
Dnah7b	T	A	1: 46,256,317 (GRCm39)	D1873E	possibly damaging	Het
Dst	G	A	1: 34,314,784 (GRCm39)	E6472K	possibly damaging	Het
Duox2	T	C	2: 122,111,414 (GRCm39)	D1428G	probably damaging	Het
Elmod2	T	C	8: 84,043,537 (GRCm39)	N210S	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fbn2	T	A	18: 58,173,265 (GRCm39)	N2051I	possibly damaging	Het
Gabrg2	G	A	11: 41,859,650 (GRCm39)	H201Y	probably damaging	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gjd4	A	G	18: 9,280,578 (GRCm39)	S167P	probably damaging	Het
Heatr5a	T	C	12: 51,924,130 (GRCm39)	N2028D	probably benign	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Herc1	T	C	9: 66,298,740 (GRCm39)	S625P	probably damaging	Het
Ighv1-55	T	C	12: 115,172,175 (GRCm39)		probably benign	Het
Ighv5-8	G	A	12: 113,618,777 (GRCm39)	S64N	probably benign	Het
Itga1	G	T	13: 115,138,227 (GRCm39)		probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Ksr1	G	A	11: 78,965,186 (GRCm39)	P118S	possibly damaging	Het
Lat2	T	C	5: 134,634,911 (GRCm39)	N100S	probably damaging	Het
Lrit3	T	A	3: 129,582,121 (GRCm39)	D501V	probably damaging	Het
Lrrfip1	T	A	1: 91,031,042 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Med21	T	A	6: 146,551,691 (GRCm39)	L114H	probably damaging	Het
Mfap4	A	T	11: 61,376,336 (GRCm39)		probably benign	Het
Mpdz	G	A	4: 81,302,049 (GRCm39)	R233W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Neto2	T	G	8: 86,396,333 (GRCm39)	H104P	probably damaging	Het
Nr1h2	T	C	7: 44,201,979 (GRCm39)	T36A	possibly damaging	Het
Nudt16l2	T	C	9: 105,021,647 (GRCm39)	D133G	probably benign	Het
Or13a20	A	T	7: 140,232,074 (GRCm39)	M61L	probably damaging	Het
Or4a79	T	C	2: 89,551,838 (GRCm39)	I206V	probably benign	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or51g2	A	G	7: 102,623,013 (GRCm39)	M62T	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5p52	A	G	7: 107,502,567 (GRCm39)	I214M	probably damaging	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Or8b4	T	C	9: 37,830,882 (GRCm39)	*310R	probably null	Het
Pcbp3	A	G	10: 76,606,869 (GRCm39)	L241S	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Podxl	G	A	6: 31,503,579 (GRCm39)	T254M	possibly damaging	Het
Prr27	A	C	5: 87,991,100 (GRCm39)	E237D	possibly damaging	Het
Rdh16	G	T	10: 127,637,316 (GRCm39)	V84F	probably damaging	Het
Rnf26	A	T	9: 44,023,428 (GRCm39)	D273E	probably benign	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rpl3l	A	G	17: 24,952,584 (GRCm39)	K239E	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Ryk	A	G	9: 102,768,415 (GRCm39)	D352G	possibly damaging	Het
Setd1b	T	A	5: 123,299,061 (GRCm39)		probably benign	Het
Sh2b1	G	A	7: 126,070,618 (GRCm39)	A361V	possibly damaging	Het
Slc35f3	A	T	8: 127,047,935 (GRCm39)	K92*	probably null	Het
Slc39a10	A	G	1: 46,857,144 (GRCm39)		probably benign	Het
Slc47a1	G	A	11: 61,253,857 (GRCm39)	T194I	probably benign	Het
Slc6a3	C	A	13: 73,692,936 (GRCm39)	N185K	probably damaging	Het
Stag1	T	C	9: 100,730,758 (GRCm39)	V391A	probably damaging	Het
Syne2	A	C	12: 75,996,075 (GRCm39)	N2206T	probably damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tfam	A	G	10: 71,069,225 (GRCm39)	S166P	probably benign	Het
Tmem63a	A	G	1: 180,784,056 (GRCm39)	H212R	probably benign	Het
Txndc11	T	A	16: 10,902,745 (GRCm39)	Q634L	possibly damaging	Het
Usp31	T	C	7: 121,306,548 (GRCm39)		probably benign	Het
Vmn1r204	A	T	13: 22,740,962 (GRCm39)	M198L	probably damaging	Het
Vmn2r17	A	T	5: 109,575,049 (GRCm39)	T119S	probably benign	Het
Vsig1	A	G	X: 139,833,861 (GRCm39)	D227G	probably damaging	Het
Zfhx2	G	A	14: 55,304,678 (GRCm39)	P1102L	probably benign	Het
Zfp715	T	C	7: 42,949,444 (GRCm39)	Q172R	probably benign	Het
Zfp872	A	G	9: 22,108,701 (GRCm39)	D53G	probably damaging	Het
Zswim8	G	A	14: 20,764,681 (GRCm39)	D684N	probably benign	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
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'- TGAGGGACCAACTCAGATGC -3'
(R):5'- CCCCAGTGAAGAGAATTGTTCC -3'

Sequencing Primer
(F):5'- TTCCTCTGTGACAGGAAAGGATC -3'
(R):5'- CCAGTGAAGAGAATTGTTCCTGACC -3'

Posted On

2015-10-08