Mutagenetix > Incidental Mutation

Incidental Mutation 'R6816:Trip12'

537309

Institutional Source

Beutler Lab

Gene Symbol

Trip12

Ensembl Gene

ENSMUSG00000026219

Gene Name

thyroid hormone receptor interactor 12

Synonyms

Gtl6, 1110036I07Rik, 6720416K24Rik

MMRRC Submission

044928-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6816 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84698910-84818237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84771435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 280 (S280T)

Ref Sequence

ENSEMBL: ENSMUSP00000139682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027421] [ENSMUST00000185909] [ENSMUST00000186465] [ENSMUST00000186648] [ENSMUST00000186894] [ENSMUST00000187818] [ENSMUST00000189496] [ENSMUST00000190067]

AlphaFold

G5E870

Predicted Effect

probably damaging
Transcript: ENSMUST00000027421
AA Change: S238T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: S238T

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

probably damaging
Transcript: ENSMUST00000185909
AA Change: S280T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139986
Gene: ENSMUSG00000026219
AA Change: S280T

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 damaging
Transcript: ENSMUST00000186465
AA Change: S238T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: S238T

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 damaging
Transcript: ENSMUST00000186648
AA Change: S238T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: S238T

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 damaging
Transcript: ENSMUST00000186894
AA Change: S238T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140267
Gene: ENSMUSG00000026219
AA Change: S238T

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: ENSMUST00000187818

SMART Domains

Protein: ENSMUSP00000140917
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189496
AA Change: S280T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139682
Gene: ENSMUSG00000026219
AA Change: S280T

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: ENSMUST00000190067

SMART Domains

Protein: ENSMUSP00000140817
Gene: ENSMUSG00000026219

Domain	Start	End	E-Value	Type
low complexity region	34	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190464

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

96% (49/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	A	G	8: 95,668,311 (GRCm39)	T458A	probably damaging	Het
Ajm1	C	CTCTA	2: 25,469,733 (GRCm39)		probably null	Het
Ankrd36	T	G	11: 5,593,765 (GRCm39)	F457V	possibly damaging	Het
Cep152	T	C	2: 125,436,947 (GRCm39)	E531G	probably damaging	Het
Dpf1	A	C	7: 29,011,087 (GRCm39)	D162A	possibly damaging	Het
E2f8	A	T	7: 48,525,331 (GRCm39)	Y214N	possibly damaging	Het
Fer1l5	A	T	1: 36,445,591 (GRCm39)	Y786F	possibly damaging	Het
Fhod1	G	T	8: 106,057,176 (GRCm39)	Q933K	probably benign	Het
Gdap2	T	C	3: 100,099,021 (GRCm39)		probably null	Het
Grin2d	A	G	7: 45,483,106 (GRCm39)		probably benign	Het
H2bc22	C	T	13: 21,971,947 (GRCm39)	S88L	probably benign	Het
Hgs	T	A	11: 120,362,397 (GRCm39)	V112D	probably damaging	Het
Igf2r	A	T	17: 12,932,969 (GRCm39)	V851E	probably damaging	Het
Igfn1	T	A	1: 135,887,466 (GRCm39)	T2533S	probably benign	Het
Iqch	C	T	9: 63,388,041 (GRCm39)	V750I	probably benign	Het
Itih2	A	G	2: 10,110,517 (GRCm39)	Y525H	probably damaging	Het
Kcnu1	C	T	8: 26,427,762 (GRCm39)	Q360*	probably null	Het
Klk1b26	A	G	7: 43,666,292 (GRCm39)	N245S	probably benign	Het
Kmt2c	T	C	5: 25,610,530 (GRCm39)		probably null	Het
Lhpp	T	C	7: 132,235,762 (GRCm39)	S116P	probably benign	Het
Madcam1	A	G	10: 79,501,274 (GRCm39)	D113G	probably damaging	Het
Magi3	A	T	3: 103,997,227 (GRCm39)		probably null	Het
Map3k9	A	G	12: 81,769,028 (GRCm39)	S1007P	possibly damaging	Het
Mkrn2	C	T	6: 115,588,689 (GRCm39)	P144L	probably damaging	Het
Mon1a	T	C	9: 107,777,609 (GRCm39)	S171P	probably damaging	Het
Nrarp	T	C	2: 25,071,319 (GRCm39)	L66P	probably damaging	Het
P2ry1	T	A	3: 60,911,253 (GRCm39)	F131I	probably benign	Het
Pdzk1	A	G	3: 96,761,886 (GRCm39)	Q166R	probably benign	Het
Pigt	G	T	2: 164,343,052 (GRCm39)	V249F	probably damaging	Het
Ppp1r16b	G	T	2: 158,603,595 (GRCm39)	V407L	probably benign	Het
Pramel58	A	T	5: 94,831,773 (GRCm39)	Q260L	possibly damaging	Het
Rab6a	G	T	7: 100,279,080 (GRCm39)	E73D	probably damaging	Het
Ralb	C	A	1: 119,405,712 (GRCm39)	G33*	probably null	Het
Sema3b	T	A	9: 107,477,549 (GRCm39)	M491L	probably benign	Het
Sema3c	A	C	5: 17,875,463 (GRCm39)	D40A	probably benign	Het
Slc22a1	T	C	17: 12,871,370 (GRCm39)	N464D	possibly damaging	Het
Spire2	T	A	8: 124,086,152 (GRCm39)	S295T	probably benign	Het
Stat3	T	G	11: 100,802,093 (GRCm39)	Q32P	probably damaging	Het
Sulf2	T	C	2: 165,924,674 (GRCm39)	T471A	probably benign	Het
Sult2b1	A	G	7: 45,383,102 (GRCm39)	W227R	probably damaging	Het
Syt2	T	A	1: 134,673,538 (GRCm39)	I294N	probably damaging	Het
Taar8b	A	T	10: 23,968,079 (GRCm39)	F38L	probably benign	Het
Tbl2	T	A	5: 135,188,069 (GRCm39)		probably null	Het
Tex48	G	A	4: 63,530,192 (GRCm39)	S9L	probably damaging	Het
Tmprss2	A	T	16: 97,369,667 (GRCm39)	M369K	possibly damaging	Het
Tspoap1	T	C	11: 87,656,491 (GRCm39)	V263A	probably benign	Het
Vmn2r74	T	A	7: 85,610,621 (GRCm39)	R24*	probably null	Het
Wdr35	G	A	12: 9,077,724 (GRCm39)		probably null	Het
Zfp202	A	G	9: 40,123,109 (GRCm39)	R624G	probably damaging	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
R0486:Trip12	UTSW	1	84,738,805 (GRCm39)	nonsense	probably null
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
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'- TTGGCCTGTAATCCAGAAGG -3'
(R):5'- CAACTGGTGCCGAAGAGAGATC -3'

Sequencing Primer
(F):5'- CCTGTAATCCAGAAGGTCCAGG -3'
(R):5'- TCAAGCTGGCTTCAAAATCAG -3'

Posted On

2018-10-18