Mutagenetix > Incidental Mutation

Incidental Mutation 'R0486:Trip12'

42258

Institutional Source

Beutler Lab

Gene Symbol

Trip12

Ensembl Gene

ENSMUSG00000026219

Gene Name

thyroid hormone receptor interactor 12

Synonyms

Gtl6, 1110036I07Rik, 6720416K24Rik

MMRRC Submission

038685-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0486 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84698910-84818237 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 84738805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 714 (G714*)

Ref Sequence

ENSEMBL: ENSMUSP00000140267 (fasta)

Gene Model

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

AlphaFold

G5E870

Predicted Effect

probably null
Transcript: ENSMUST00000027421
AA Change: G714*

SMART Domains

Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: G714*

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

noncoding transcript
Transcript: ENSMUST00000185672

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 null
Transcript: ENSMUST00000186465
AA Change: G714*

SMART Domains

Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: G714*

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 null
Transcript: ENSMUST00000186648
AA Change: G708*

SMART Domains

Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: G708*

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 null
Transcript: ENSMUST00000186894
AA Change: G714*

SMART Domains

Protein: ENSMUSP00000140267
Gene: ENSMUSG00000026219
AA Change: G714*

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: ENSMUST00000190464

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

98% (65/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	C	4: 40,177,783 (GRCm39)	L268P	probably damaging	Het
Adam22	A	T	5: 8,380,048 (GRCm39)	H83Q	probably damaging	Het
Anln	T	C	9: 22,264,122 (GRCm39)	D886G	probably benign	Het
Arhgef11	T	A	3: 87,596,159 (GRCm39)		probably null	Het
Ark2c	T	A	18: 77,571,950 (GRCm39)	Q91L	probably damaging	Het
Arl8b	A	T	6: 108,792,287 (GRCm39)	D116V	possibly damaging	Het
BC051665	C	T	13: 60,931,859 (GRCm39)	G180D	probably damaging	Het
Bloc1s2	A	G	19: 44,131,589 (GRCm39)		probably benign	Het
Ccdc185	T	G	1: 182,575,424 (GRCm39)	S422R	possibly damaging	Het
Cd101	T	C	3: 100,915,408 (GRCm39)	K720E	possibly damaging	Het
Cdh23	C	A	10: 60,222,725 (GRCm39)	A1236S	probably damaging	Het
Chd1	G	A	17: 15,954,604 (GRCm39)	A491T	probably damaging	Het
Chdh	T	C	14: 29,754,815 (GRCm39)	V275A	possibly damaging	Het
Cmtm2b	A	T	8: 105,057,047 (GRCm39)	I136F	probably damaging	Het
Cps1	T	C	1: 67,204,551 (GRCm39)	V457A	probably damaging	Het
Cwf19l1	A	G	19: 44,103,129 (GRCm39)	V362A	probably benign	Het
Cyp4f17	T	C	17: 32,743,797 (GRCm39)		probably benign	Het
Cyp4f18	C	A	8: 72,749,861 (GRCm39)	V263L	probably benign	Het
Dclre1a	A	G	19: 56,529,922 (GRCm39)		probably benign	Het
Dpp6	T	C	5: 27,866,640 (GRCm39)	I446T	probably benign	Het
F11r	T	C	1: 171,288,156 (GRCm39)	W61R	probably damaging	Het
Fam120b	C	T	17: 15,646,550 (GRCm39)		probably benign	Het
Fastkd2	T	C	1: 63,791,499 (GRCm39)	V669A	possibly damaging	Het
Foxg1	T	C	12: 49,431,314 (GRCm39)		probably benign	Het
Foxo3	A	G	10: 42,073,477 (GRCm39)	Y347H	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gbp7	C	A	3: 142,252,078 (GRCm39)		probably benign	Het
Glipr1	T	C	10: 111,832,754 (GRCm39)		probably benign	Het
Gm11555	A	G	11: 99,540,986 (GRCm39)	S8P	unknown	Het
H6pd	G	A	4: 150,067,393 (GRCm39)		probably benign	Het
Haus8	C	T	8: 71,709,182 (GRCm39)	M75I	probably benign	Het
Haus8	C	A	8: 71,709,181 (GRCm39)	G76W	probably damaging	Het
Kcnj13	C	A	1: 87,314,752 (GRCm39)	V157L	probably damaging	Het
Kcnt2	T	A	1: 140,437,218 (GRCm39)	C550*	probably null	Het
Kdm5d	A	G	Y: 927,107 (GRCm39)	N615S	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncapd2	G	A	6: 125,160,990 (GRCm39)	R292*	probably null	Het
Ngef	T	A	1: 87,406,848 (GRCm39)	N640I	probably damaging	Het
Nhlrc3	T	C	3: 53,359,858 (GRCm39)	Y335C	probably damaging	Het
Nipbl	A	T	15: 8,368,354 (GRCm39)		probably benign	Het
Nop2	A	G	6: 125,117,636 (GRCm39)	K434R	probably null	Het
Nr4a3	T	C	4: 48,056,525 (GRCm39)		probably benign	Het
Or8b35	A	G	9: 37,903,998 (GRCm39)	N70S	possibly damaging	Het
Piezo2	A	C	18: 63,162,132 (GRCm39)	I2233R	probably damaging	Het
Prag1	A	T	8: 36,613,787 (GRCm39)	E1113V	probably damaging	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Psmd1	T	A	1: 86,022,012 (GRCm39)	N611K	probably damaging	Het
Ptpn7	C	T	1: 135,065,096 (GRCm39)	T168I	probably damaging	Het
Pus1	A	T	5: 110,927,596 (GRCm39)	V53E	probably damaging	Het
Rgs22	A	G	15: 36,093,028 (GRCm39)	M415T	probably damaging	Het
Rnf17	C	T	14: 56,751,632 (GRCm39)	T1490M	probably benign	Het
Rnf20	C	A	4: 49,645,907 (GRCm39)	L332I	possibly damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spam1	A	T	6: 24,796,394 (GRCm39)	Q115L	probably damaging	Het
Syce1l	A	T	8: 114,381,395 (GRCm39)		probably null	Het
Synj1	T	C	16: 90,735,151 (GRCm39)		probably benign	Het
Tas2r126	A	T	6: 42,412,225 (GRCm39)	I253F	probably benign	Het
Tecpr2	G	A	12: 110,862,803 (GRCm39)	V72I	probably benign	Het
Tfap2a	G	T	13: 40,882,170 (GRCm39)	P45Q	probably damaging	Het
Wdr31	A	G	4: 62,372,130 (GRCm39)	S330P	probably damaging	Het
Wdr64	T	C	1: 175,622,769 (GRCm39)		probably benign	Het
Yes1	T	A	5: 32,812,926 (GRCm39)	Y343*	probably null	Het

Other mutations in Trip12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Trip12	APN	1	84,708,262 (GRCm39)	missense	probably damaging	1.00
IGL00430:Trip12	APN	1	84,741,582 (GRCm39)	missense	probably damaging	0.96
IGL00465:Trip12	APN	1	84,741,582 (GRCm39)	missense	probably damaging	0.96
IGL00819:Trip12	APN	1	84,731,993 (GRCm39)	missense	probably damaging	1.00
IGL00900:Trip12	APN	1	84,702,485 (GRCm39)	missense	possibly damaging	0.56
IGL00990:Trip12	APN	1	84,729,605 (GRCm39)	missense	probably damaging	0.99
IGL01087:Trip12	APN	1	84,735,580 (GRCm39)	missense	probably damaging	0.99
IGL01400:Trip12	APN	1	84,729,699 (GRCm39)	missense	probably damaging	0.99
IGL01521:Trip12	APN	1	84,743,919 (GRCm39)	splice site	probably benign
IGL01619:Trip12	APN	1	84,792,631 (GRCm39)	missense	probably damaging	0.99
IGL01796:Trip12	APN	1	84,705,999 (GRCm39)	missense	probably benign	0.42
IGL01975:Trip12	APN	1	84,792,534 (GRCm39)	splice site	probably benign
IGL02190:Trip12	APN	1	84,743,791 (GRCm39)	missense	probably damaging	0.98
IGL02474:Trip12	APN	1	84,771,854 (GRCm39)	missense	probably benign
IGL02517:Trip12	APN	1	84,721,535 (GRCm39)	unclassified	probably benign
IGL02631:Trip12	APN	1	84,743,729 (GRCm39)	missense	possibly damaging	0.91
IGL02991:Trip12	APN	1	84,716,536 (GRCm39)	missense	probably damaging	1.00
IGL03161:Trip12	APN	1	84,738,853 (GRCm39)	unclassified	probably benign
IGL03388:Trip12	APN	1	84,720,907 (GRCm39)	missense	probably damaging	0.99
cardamom	UTSW	1	84,726,997 (GRCm39)	missense	probably damaging	0.99
pungent	UTSW	1	84,771,636 (GRCm39)	missense	possibly damaging	0.70
spices	UTSW	1	84,771,596 (GRCm39)	missense	probably benign	0.10
sulfuric	UTSW	1	84,736,771 (GRCm39)	missense	probably benign	0.19
Turmeric	UTSW	1	84,732,064 (GRCm39)	missense	probably benign	0.07
LCD18:Trip12	UTSW	1	84,754,482 (GRCm38)	unclassified	probably benign
R0090:Trip12	UTSW	1	84,709,857 (GRCm39)	splice site	probably benign
R0111:Trip12	UTSW	1	84,736,854 (GRCm39)	unclassified	probably benign
R0471:Trip12	UTSW	1	84,703,928 (GRCm39)	missense	probably damaging	1.00
R0557:Trip12	UTSW	1	84,702,468 (GRCm39)	missense	probably damaging	1.00
R0570:Trip12	UTSW	1	84,729,269 (GRCm39)	missense	probably damaging	1.00
R0614:Trip12	UTSW	1	84,735,482 (GRCm39)	missense	probably damaging	1.00
R0627:Trip12	UTSW	1	84,746,318 (GRCm39)	missense	probably damaging	1.00
R0630:Trip12	UTSW	1	84,771,636 (GRCm39)	missense	possibly damaging	0.70
R0657:Trip12	UTSW	1	84,736,771 (GRCm39)	missense	probably benign	0.19
R0741:Trip12	UTSW	1	84,722,902 (GRCm39)	missense	probably benign	0.09
R0862:Trip12	UTSW	1	84,721,730 (GRCm39)	missense	probably damaging	0.99
R0864:Trip12	UTSW	1	84,721,730 (GRCm39)	missense	probably damaging	0.99
R1124:Trip12	UTSW	1	84,714,758 (GRCm39)	missense	probably damaging	1.00
R1252:Trip12	UTSW	1	84,754,071 (GRCm39)	nonsense	probably null
R1455:Trip12	UTSW	1	84,736,821 (GRCm39)	missense	probably benign	0.01
R1487:Trip12	UTSW	1	84,746,352 (GRCm39)	missense	probably damaging	1.00
R1702:Trip12	UTSW	1	84,722,784 (GRCm39)	missense	probably damaging	1.00
R1781:Trip12	UTSW	1	84,708,342 (GRCm39)	missense	probably benign	0.01
R1847:Trip12	UTSW	1	84,726,990 (GRCm39)	missense	probably damaging	1.00
R1854:Trip12	UTSW	1	84,705,866 (GRCm39)	missense	probably damaging	1.00
R1866:Trip12	UTSW	1	84,722,781 (GRCm39)	missense	probably damaging	1.00
R1926:Trip12	UTSW	1	84,727,012 (GRCm39)	missense	probably damaging	0.98
R1935:Trip12	UTSW	1	84,771,822 (GRCm39)	missense	possibly damaging	0.46
R1950:Trip12	UTSW	1	84,738,522 (GRCm39)	missense	probably damaging	1.00
R1994:Trip12	UTSW	1	84,726,893 (GRCm39)	missense	probably damaging	1.00
R2014:Trip12	UTSW	1	84,738,587 (GRCm39)	nonsense	probably null
R2391:Trip12	UTSW	1	84,792,511 (GRCm39)	frame shift	probably null
R2423:Trip12	UTSW	1	84,792,511 (GRCm39)	frame shift	probably null
R2433:Trip12	UTSW	1	84,721,544 (GRCm39)	missense	possibly damaging	0.84
R2905:Trip12	UTSW	1	84,732,064 (GRCm39)	missense	probably benign	0.07
R3040:Trip12	UTSW	1	84,719,966 (GRCm39)	missense	probably benign	0.13
R3735:Trip12	UTSW	1	84,792,511 (GRCm39)	frame shift	probably null
R3907:Trip12	UTSW	1	84,709,827 (GRCm39)	missense	possibly damaging	0.53
R4394:Trip12	UTSW	1	84,703,462 (GRCm39)	missense	probably damaging	1.00
R4540:Trip12	UTSW	1	84,726,997 (GRCm39)	missense	probably damaging	0.99
R4859:Trip12	UTSW	1	84,771,531 (GRCm39)	missense	probably damaging	0.99
R5240:Trip12	UTSW	1	84,771,854 (GRCm39)	missense	probably benign
R5278:Trip12	UTSW	1	84,739,868 (GRCm39)	missense	probably damaging	1.00
R5377:Trip12	UTSW	1	84,735,152 (GRCm39)	missense	probably damaging	1.00
R5510:Trip12	UTSW	1	84,746,401 (GRCm39)	missense	probably damaging	1.00
R5542:Trip12	UTSW	1	84,727,065 (GRCm39)	missense	probably damaging	1.00
R5550:Trip12	UTSW	1	84,738,820 (GRCm39)	missense	probably damaging	0.99
R5886:Trip12	UTSW	1	84,708,179 (GRCm39)	intron	probably benign
R5893:Trip12	UTSW	1	84,736,884 (GRCm39)	unclassified	probably benign
R5914:Trip12	UTSW	1	84,741,179 (GRCm39)	missense	probably damaging	1.00
R5925:Trip12	UTSW	1	84,726,974 (GRCm39)	nonsense	probably null
R5985:Trip12	UTSW	1	84,703,492 (GRCm39)	missense	probably damaging	0.99
R6135:Trip12	UTSW	1	84,738,559 (GRCm39)	missense	probably benign	0.00
R6158:Trip12	UTSW	1	84,738,733 (GRCm39)	missense	possibly damaging	0.84
R6419:Trip12	UTSW	1	84,771,591 (GRCm39)	missense	probably damaging	1.00
R6816:Trip12	UTSW	1	84,771,435 (GRCm39)	missense	probably damaging	0.99
R7144:Trip12	UTSW	1	84,771,435 (GRCm39)	missense	probably damaging	0.99
R7194:Trip12	UTSW	1	84,771,943 (GRCm39)	missense	probably benign	0.07
R7355:Trip12	UTSW	1	84,792,604 (GRCm39)	missense	probably damaging	1.00
R7361:Trip12	UTSW	1	84,728,163 (GRCm39)	missense	probably damaging	0.98
R7588:Trip12	UTSW	1	84,738,604 (GRCm39)	missense	probably damaging	0.99
R7705:Trip12	UTSW	1	84,755,170 (GRCm39)	missense	probably damaging	1.00
R7818:Trip12	UTSW	1	84,738,527 (GRCm39)	missense	probably damaging	1.00
R7918:Trip12	UTSW	1	84,722,784 (GRCm39)	missense	probably damaging	0.98
R8127:Trip12	UTSW	1	84,716,463 (GRCm39)	missense	probably damaging	0.99
R8221:Trip12	UTSW	1	84,743,771 (GRCm39)	missense	possibly damaging	0.80
R8336:Trip12	UTSW	1	84,743,762 (GRCm39)	missense	probably benign	0.37
R8373:Trip12	UTSW	1	84,773,488 (GRCm39)	missense	probably damaging	0.98
R8719:Trip12	UTSW	1	84,722,790 (GRCm39)	missense	probably damaging	0.98
R8771:Trip12	UTSW	1	84,721,018 (GRCm39)	unclassified	probably benign
R8997:Trip12	UTSW	1	84,771,596 (GRCm39)	missense	probably benign	0.10
R9146:Trip12	UTSW	1	84,771,881 (GRCm39)	missense	possibly damaging	0.89
R9236:Trip12	UTSW	1	84,703,550 (GRCm39)	missense	probably damaging	1.00
R9338:Trip12	UTSW	1	84,727,019 (GRCm39)	missense	probably damaging	0.99
R9391:Trip12	UTSW	1	84,773,473 (GRCm39)	missense	probably benign	0.00
R9516:Trip12	UTSW	1	84,735,215 (GRCm39)	missense	probably damaging	1.00
X0023:Trip12	UTSW	1	84,738,508 (GRCm39)	missense	probably benign	0.12
X0065:Trip12	UTSW	1	84,726,884 (GRCm39)	missense	probably benign	0.21
Z1088:Trip12	UTSW	1	84,743,889 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAACTGCGAAGATGCCTTCTTTTGG -3'
(R):5'- TGTTAGCCTGTAAGGATGGCATAACAC -3'

Sequencing Primer
(F):5'- CGAAGATGCCTTCTTTTGGTAAAC -3'
(R):5'- TATTCAGCATGGAAGTCCATAGAG -3'

Posted On

2013-05-23