Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Trip12'

478284

Institutional Source

Beutler Lab

Gene Symbol

Trip12

Ensembl Gene

ENSMUSG00000026219

Gene Name

thyroid hormone receptor interactor 12

Synonyms

6720416K24Rik, 1110036I07Rik, Gtl6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

LCD18 (G1)

Quality Score

587.76

Status

Validated

Chromosome

Chromosomal Location

84721189-84840516 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

N to ~~at 84754482 bp (GRCm38)~~

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027421] [ENSMUST00000185909] [ENSMUST00000186465] [ENSMUST00000186648] [ENSMUST00000186894] [ENSMUST00000189841]

AlphaFold

G5E870

Predicted Effect

probably benign
Transcript: ENSMUST00000027421

SMART Domains

Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	177	188	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
low complexity region	231	247	N/A	INTRINSIC
low complexity region	379	391	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
low complexity region	416	427	N/A	INTRINSIC
SCOP:d1ee4a_	446	660	5e-20	SMART
PDB:1WA5\|B	447	641	1e-5	PDB
Pfam:WWE	765	831	7.6e-22	PFAM
low complexity region	983	1006	N/A	INTRINSIC
low complexity region	1033	1047	N/A	INTRINSIC
low complexity region	1062	1073	N/A	INTRINSIC
low complexity region	1333	1344	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
Blast:HECTc	1363	1417	8e-8	BLAST
Blast:HECTc	1573	1629	2e-24	BLAST
HECTc	1636	2025	1.29e-177	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185567

Predicted Effect

probably benign
Transcript: ENSMUST00000185909

SMART Domains

Protein: ENSMUSP00000139986
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	195	214	N/A	INTRINSIC
low complexity region	219	230	N/A	INTRINSIC
low complexity region	233	257	N/A	INTRINSIC
low complexity region	273	289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186465

SMART Domains

Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	177	188	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
low complexity region	231	247	N/A	INTRINSIC
low complexity region	379	391	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
low complexity region	416	427	N/A	INTRINSIC
SCOP:d1ee4a_	446	660	5e-20	SMART
PDB:1WA5\|B	447	641	1e-5	PDB
Pfam:WWE	761	831	2.2e-22	PFAM
low complexity region	983	1006	N/A	INTRINSIC
low complexity region	1033	1047	N/A	INTRINSIC
low complexity region	1062	1073	N/A	INTRINSIC
low complexity region	1333	1344	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
Blast:HECTc	1363	1417	8e-8	BLAST
Blast:HECTc	1573	1629	2e-24	BLAST
HECTc	1636	2025	1.29e-177	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186648

SMART Domains

Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	177	188	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
low complexity region	231	247	N/A	INTRINSIC
low complexity region	386	400	N/A	INTRINSIC
low complexity region	410	421	N/A	INTRINSIC
SCOP:d1ee4a_	440	654	5e-20	SMART
PDB:1WA5\|B	441	635	1e-5	PDB
low complexity region	950	973	N/A	INTRINSIC
low complexity region	1000	1014	N/A	INTRINSIC
low complexity region	1029	1040	N/A	INTRINSIC
low complexity region	1300	1311	N/A	INTRINSIC
low complexity region	1312	1329	N/A	INTRINSIC
Blast:HECTc	1330	1384	7e-8	BLAST
Blast:HECTc	1540	1596	2e-24	BLAST
HECTc	1603	1992	6.2e-180	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186894

SMART Domains

Protein: ENSMUSP00000140267
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
low complexity region	177	188	N/A	INTRINSIC
low complexity region	191	215	N/A	INTRINSIC
low complexity region	231	247	N/A	INTRINSIC
low complexity region	379	391	N/A	INTRINSIC
low complexity region	392	406	N/A	INTRINSIC
low complexity region	416	427	N/A	INTRINSIC
SCOP:d1ee4a_	446	660	3e-20	SMART
PDB:1WA5\|B	447	641	7e-6	PDB
Blast:ARM	476	516	6e-6	BLAST
WWE	764	839	6.9e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000189841

SMART Domains

Protein: ENSMUSP00000140879
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	51	63	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190125

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted allele exhibit complete embryonic lethality during organogenesis associated with embryonic growth retardation and abnormal placenta development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	G	A	5: 98,707,508		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
9530077C05Rik	N		9: 22,442,083		probably benign	Het
A330008L17Rik	A	G	8: 99,723,425		noncoding transcript	Het
Aaed1	G	A	13: 64,287,285		probably benign	Het
Aff2	C	A	X: 69,747,535		probably benign	Het
Aldh1a1	C	A	19: 20,626,646		probably benign	Het
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Het
Apba2	A	T	7: 64,622,160		probably benign	Het
Apc2	G	C	10: 80,299,974		probably benign	Het
App	C	G	16: 85,025,412		probably benign	Het
Asic2	C	A	11: 80,985,744		probably benign	Het
Btk	T	C	X: 134,578,825		probably benign	Het
C530008M17Rik	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,658,742		probably benign	Het
Car12	C	A	9: 66,761,676		probably benign	Het
Ccdc191	G	A	16: 43,921,801		probably benign	Het
Ccdc34	N		2: 110,016,318		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Het
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Het
Cdv3	A	T	9: 103,365,343		probably benign	Het
Cdv3	C	A	9: 103,365,354		probably benign	Het
Celf2	N		2: 6,779,076		probably benign	Het
Clec18a	C	A	8: 111,076,136		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 46,737,536		probably benign	Het
Cntn4	A	G	6: 106,553,940		probably benign	Het
Cntnap5c	G	C	17: 58,162,160		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Cpne3	G	T	4: 19,563,382		probably benign	Het
Dab1	T	G	4: 104,046,572		probably benign	Het
Dapp1	G	A	3: 137,939,400		probably benign	Het
Dcc	G	A	18: 72,297,447		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,938,005		probably benign	Het
Dennd1b	G	A	1: 139,114,764		probably benign	Het
Dhdds	TAA	TA	4: 133,970,363		probably benign	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,406,561		probably benign	Het
Dock10	N		1: 80,716,623		probably benign	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Het
Fgf20	A	C	8: 40,292,318		probably benign	Het
Ftsj3	G	T	11: 106,250,059		probably benign	Het
Gls	T	G	1: 52,183,367		probably benign	Het
Gm12130	T	C	11: 38,506,923		noncoding transcript	Het
Gm12394	T	C	4: 42,792,885	T416A	probably benign	Het
Gm14936	G	A	X: 112,998,750		noncoding transcript	Het
Gm16630	C	T	6: 48,141,269		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,940,963		noncoding transcript	Het
Gm26917	C	G	17: 39,843,971		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,521,526		noncoding transcript	Het
Gm37311	G	A	16: 77,618,281		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,534,557		noncoding transcript	Het
Gm42418	T	C	17: 39,848,555		noncoding transcript	Het
Gm4302	T	C	10: 100,341,444	W197R	probably benign	Het
Gm5615	T	C	9: 36,533,553		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
H2-T23	T	C	17: 36,031,216		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,469,578		probably benign	Het
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Het
Il1rap	C	A	16: 26,631,593		probably benign	Het
Inhbc	N		10: 127,367,140		probably benign	Het
Inpp4b	C	T	8: 81,693,010		probably benign	Het
Kars	N		8: 111,993,708		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Het
Kcnh7	A	G	2: 63,049,799		probably benign	Het
Klhl1	G	C	14: 96,317,730		probably benign	Het
Lrch1	C	T	14: 74,905,021		probably benign	Het
Lrp1b	G	C	2: 42,237,562		probably benign	Het
Lsm8	G	A	6: 18,844,316		probably benign	Het
Lsm8	G	A	6: 18,854,321		probably benign	Het
Magi2	T	C	5: 19,954,511		probably benign	Het
Marc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,822,788		probably benign	Het
Mef2c	G	A	13: 83,605,823		probably benign	Het
Mei4	A	G	9: 82,186,959		probably benign	Het
Mid1	T	A	X: 170,005,564		probably benign	Het
Mndal	G	C	1: 173,880,218		probably benign	Het
Mpped2	C	A	2: 106,721,428		probably benign	Het
Mtf1	A	G	4: 124,829,316		probably benign	Het
Mxd1	T	C	6: 86,667,406		probably benign	Het
Nbea	G	T	3: 55,701,527		probably benign	Het
Ncor1	N		11: 62,419,782		probably benign	Het
Nox4	A	G	7: 87,243,067		probably benign	Het
Ocln	C	T	13: 100,520,567		probably benign	Het
Ofcc1	G	A	13: 40,092,967		probably benign	Het
Olfr313	T	A	11: 58,817,440	V144D	possibly damaging	Het
Paics	N		5: 76,956,744		probably null	Het
Paqr8	G	T	1: 20,914,658		probably benign	Het
Pdss1	C	T	2: 22,900,968		probably benign	Het
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Het
Pkhd1	G	A	1: 20,611,414		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Het
Prr16	C	T	18: 51,200,324		probably benign	Het
Prss38	T	G	11: 59,375,641		probably benign	Het
Ptprk	T	C	10: 28,574,987		probably benign	Het
Pum1	N		4: 130,730,549		probably benign	Het
Rabgef1	N		5: 130,187,586		probably null	Het
Rgs16	G	A	1: 153,744,230		probably benign	Het
Riok3	G	T	18: 12,129,982		probably benign	Het
Robo2	N		16: 74,055,954		probably benign	Het
Rps6ka3	A	G	X: 159,279,215		probably benign	Het
Rptn	T	A	3: 93,397,541	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,597,313		probably benign	Het
Spsb1	C	T	4: 149,952,486		probably benign	Het
Tbc1d19	A	C	5: 53,816,709		probably benign	Het
Trav7-4	C	T	14: 53,461,518	L41F	probably benign	Het
Ttc13	G	A	8: 124,675,866		probably benign	Het
Ttll6	C	T	11: 96,155,258		probably benign	Het
Unc5b	C	G	10: 60,786,171		probably benign	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 123,083,022		probably benign	Het
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Het
Zfp442	C	T	2: 150,419,848		probably benign	Het
Zfp808	C	T	13: 62,166,651		probably benign	Het

Other mutations in Trip12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Trip12	APN	1	84730541	missense	probably damaging	1.00
IGL00430:Trip12	APN	1	84763861	missense	probably damaging	0.96
IGL00465:Trip12	APN	1	84763861	missense	probably damaging	0.96
IGL00819:Trip12	APN	1	84754272	missense	probably damaging	1.00
IGL00900:Trip12	APN	1	84724764	missense	possibly damaging	0.56
IGL00990:Trip12	APN	1	84751884	missense	probably damaging	0.99
IGL01087:Trip12	APN	1	84757859	missense	probably damaging	0.99
IGL01400:Trip12	APN	1	84751978	missense	probably damaging	0.99
IGL01521:Trip12	APN	1	84766198	splice site	probably benign
IGL01619:Trip12	APN	1	84814910	missense	probably damaging	0.99
IGL01796:Trip12	APN	1	84728278	missense	probably benign	0.42
IGL01975:Trip12	APN	1	84814813	splice site	probably benign
IGL02190:Trip12	APN	1	84766070	missense	probably damaging	0.98
IGL02474:Trip12	APN	1	84794133	missense	probably benign
IGL02517:Trip12	APN	1	84743814	unclassified	probably benign
IGL02631:Trip12	APN	1	84766008	missense	possibly damaging	0.91
IGL02991:Trip12	APN	1	84738815	missense	probably damaging	1.00
IGL03161:Trip12	APN	1	84761132	unclassified	probably benign
IGL03388:Trip12	APN	1	84743186	missense	probably damaging	0.99
cardamom	UTSW	1	84749276	missense	probably damaging	0.99
pungent	UTSW	1	84793915	missense	possibly damaging	0.70
spices	UTSW	1	84793875	missense	probably benign	0.10
sulfuric	UTSW	1	84759050	missense	probably benign	0.19
Turmeric	UTSW	1	84754343	missense	probably benign	0.07
R0090:Trip12	UTSW	1	84732136	splice site	probably benign
R0111:Trip12	UTSW	1	84759133	unclassified	probably benign
R0471:Trip12	UTSW	1	84726207	missense	probably damaging	1.00
R0486:Trip12	UTSW	1	84761084	nonsense	probably null
R0557:Trip12	UTSW	1	84724747	missense	probably damaging	1.00
R0570:Trip12	UTSW	1	84751548	missense	probably damaging	1.00
R0614:Trip12	UTSW	1	84757761	missense	probably damaging	1.00
R0627:Trip12	UTSW	1	84768597	missense	probably damaging	1.00
R0630:Trip12	UTSW	1	84793915	missense	possibly damaging	0.70
R0657:Trip12	UTSW	1	84759050	missense	probably benign	0.19
R0741:Trip12	UTSW	1	84745181	missense	probably benign	0.09
R0862:Trip12	UTSW	1	84744009	missense	probably damaging	0.99
R0864:Trip12	UTSW	1	84744009	missense	probably damaging	0.99
R1124:Trip12	UTSW	1	84737037	missense	probably damaging	1.00
R1252:Trip12	UTSW	1	84776350	nonsense	probably null
R1455:Trip12	UTSW	1	84759100	missense	probably benign	0.01
R1487:Trip12	UTSW	1	84768631	missense	probably damaging	1.00
R1702:Trip12	UTSW	1	84745063	missense	probably damaging	1.00
R1781:Trip12	UTSW	1	84730621	missense	probably benign	0.01
R1847:Trip12	UTSW	1	84749269	missense	probably damaging	1.00
R1854:Trip12	UTSW	1	84728145	missense	probably damaging	1.00
R1866:Trip12	UTSW	1	84745060	missense	probably damaging	1.00
R1926:Trip12	UTSW	1	84749291	missense	probably damaging	0.98
R1935:Trip12	UTSW	1	84794101	missense	possibly damaging	0.46
R1950:Trip12	UTSW	1	84760801	missense	probably damaging	1.00
R1994:Trip12	UTSW	1	84749172	missense	probably damaging	1.00
R2014:Trip12	UTSW	1	84760866	nonsense	probably null
R2391:Trip12	UTSW	1	84814790	frame shift	probably null
R2423:Trip12	UTSW	1	84814790	frame shift	probably null
R2433:Trip12	UTSW	1	84743823	missense	possibly damaging	0.84
R2905:Trip12	UTSW	1	84754343	missense	probably benign	0.07
R3040:Trip12	UTSW	1	84742245	missense	probably benign	0.13
R3735:Trip12	UTSW	1	84814790	frame shift	probably null
R3907:Trip12	UTSW	1	84732106	missense	possibly damaging	0.53
R4394:Trip12	UTSW	1	84725741	missense	probably damaging	1.00
R4540:Trip12	UTSW	1	84749276	missense	probably damaging	0.99
R4859:Trip12	UTSW	1	84793810	missense	probably damaging	0.99
R5240:Trip12	UTSW	1	84794133	missense	probably benign
R5278:Trip12	UTSW	1	84762147	missense	probably damaging	1.00
R5377:Trip12	UTSW	1	84757431	missense	probably damaging	1.00
R5510:Trip12	UTSW	1	84768680	missense	probably damaging	1.00
R5542:Trip12	UTSW	1	84749344	missense	probably damaging	1.00
R5550:Trip12	UTSW	1	84761099	missense	probably damaging	0.99
R5886:Trip12	UTSW	1	84730458	intron	probably benign
R5893:Trip12	UTSW	1	84759163	unclassified	probably benign
R5914:Trip12	UTSW	1	84763458	missense	probably damaging	1.00
R5925:Trip12	UTSW	1	84749253	nonsense	probably null
R5985:Trip12	UTSW	1	84725771	missense	probably damaging	0.99
R6135:Trip12	UTSW	1	84760838	missense	probably benign	0.00
R6158:Trip12	UTSW	1	84761012	missense	possibly damaging	0.84
R6419:Trip12	UTSW	1	84793870	missense	probably damaging	1.00
R6816:Trip12	UTSW	1	84793714	missense	probably damaging	0.99
R7144:Trip12	UTSW	1	84793714	missense	probably damaging	0.99
R7194:Trip12	UTSW	1	84794222	missense	probably benign	0.07
R7355:Trip12	UTSW	1	84814883	missense	probably damaging	1.00
R7361:Trip12	UTSW	1	84750442	missense	probably damaging	0.98
R7588:Trip12	UTSW	1	84760883	missense	probably damaging	0.99
R7705:Trip12	UTSW	1	84777449	missense	probably damaging	1.00
R7818:Trip12	UTSW	1	84760806	missense	probably damaging	1.00
R7918:Trip12	UTSW	1	84745063	missense	probably damaging	0.98
R8127:Trip12	UTSW	1	84738742	missense	probably damaging	0.99
R8221:Trip12	UTSW	1	84766050	missense	possibly damaging	0.80
R8336:Trip12	UTSW	1	84766041	missense	probably benign	0.37
R8373:Trip12	UTSW	1	84795767	missense	probably damaging	0.98
R8719:Trip12	UTSW	1	84745069	missense	probably damaging	0.98
R8771:Trip12	UTSW	1	84743297	unclassified	probably benign
R8997:Trip12	UTSW	1	84793875	missense	probably benign	0.10
R9146:Trip12	UTSW	1	84794160	missense	possibly damaging	0.89
R9236:Trip12	UTSW	1	84725829	missense	probably damaging	1.00
R9338:Trip12	UTSW	1	84749298	missense	probably damaging	0.99
R9391:Trip12	UTSW	1	84795752	missense	probably benign	0.00
R9516:Trip12	UTSW	1	84757494	missense	probably damaging	1.00
X0023:Trip12	UTSW	1	84760787	missense	probably benign	0.12
X0065:Trip12	UTSW	1	84749163	missense	probably benign	0.21
Z1088:Trip12	UTSW	1	84766168	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-09