Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Tbc1d23'

487788

Institutional Source

Beutler Lab

Gene Symbol

Tbc1d23

Ensembl Gene

ENSMUSG00000022749

Gene Name

TBC1 domain family, member 23

Synonyms

4930451A13Rik, D030022P07Rik

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56989225-57051867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56992152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 603 (Y603H)

Ref Sequence

ENSEMBL: ENSMUSP00000023431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023431] [ENSMUST00000023432] [ENSMUST00000226586]

AlphaFold

Q8K0F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000023431
AA Change: Y603H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023431
Gene: ENSMUSG00000022749
AA Change: Y603H

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: ENSMUST00000023432

SMART Domains

Protein: ENSMUSP00000023432
Gene: ENSMUSG00000022751

Domain	Start	End	E-Value	Type
Pfam:CN_hydrolase	5	256	3.5e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180999

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226586
AA Change: Y618H

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227681

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232573

Meta Mutation Damage Score

0.4890

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Jrk	G	T	15: 74,578,189 (GRCm39)	N365K	possibly damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	probably null	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
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'- AGAAGGAGCCTGCACTTAATG -3'
(R):5'- ATCTGAGAATGGCAGAATAGTCC -3'

Sequencing Primer
(F):5'- GCACTTAATGGGCTCTATTAATTCAG -3'
(R):5'- ACACATTACACTCAACTTCTCATTAG -3'

Posted On

2017-10-10