Mutagenetix > Incidental Mutation

Incidental Mutation 'R4394:Trip12'

326508

Institutional Source

Beutler Lab

Gene Symbol

Trip12

Ensembl Gene

ENSMUSG00000026219

Gene Name

thyroid hormone receptor interactor 12

Synonyms

Gtl6, 1110036I07Rik, 6720416K24Rik

MMRRC Submission

041683-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84698910-84818237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84703462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 729 (H729Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027421] [ENSMUST00000186465] [ENSMUST00000186648] [ENSMUST00000187733] [ENSMUST00000189670]

AlphaFold

G5E870

Predicted Effect

probably damaging
Transcript: ENSMUST00000027421
AA Change: H1924Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027421
Gene: ENSMUSG00000026219
AA Change: H1924Q

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: ENSMUST00000185720

Predicted Effect

probably damaging
Transcript: ENSMUST00000186465
AA Change: H1924Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140224
Gene: ENSMUSG00000026219
AA Change: H1924Q

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: H1891Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139563
Gene: ENSMUSG00000026219
AA Change: H1891Q

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: ENSMUST00000187733

Predicted Effect

probably damaging
Transcript: ENSMUST00000189670
AA Change: H729Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140789
Gene: ENSMUSG00000026219
AA Change: H729Q

Domain	Start	End	E-Value	Type
low complexity region	138	149	N/A	INTRINSIC
low complexity region	150	167	N/A	INTRINSIC
Blast:HECTc	168	222	5e-8	BLAST
Blast:HECTc	378	434	1e-24	BLAST
HECTc	441	830	6.2e-180	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191187

Meta Mutation Damage Score

0.0834

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

99% (69/70)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,566 (GRCm39)	F391L	probably damaging	Het
AC140205.10	C	A	8: 21,323,181 (GRCm39)	T192K	probably benign	Het
Arid4b	T	A	13: 14,329,557 (GRCm39)		probably null	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Brip1	A	T	11: 85,965,124 (GRCm39)	N855K	possibly damaging	Het
Ces2f	A	G	8: 105,677,586 (GRCm39)	N197S	probably damaging	Het
Chd4	A	G	6: 125,098,581 (GRCm39)	T1520A	probably damaging	Het
Cltc	A	C	11: 86,624,456 (GRCm39)	N159K	probably damaging	Het
Cntn1	C	T	15: 92,189,645 (GRCm39)	T656I	probably damaging	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dzip1l	T	A	9: 99,521,907 (GRCm39)	L181H	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fat3	A	G	9: 15,834,088 (GRCm39)	I4168T	probably benign	Het
Fbxw20	T	C	9: 109,061,398 (GRCm39)	D117G	probably benign	Het
Gm8122	A	G	14: 43,091,525 (GRCm39)	L81P	unknown	Het
Hal	T	C	10: 93,332,421 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,823,949 (GRCm39)	Y715*	probably null	Het
Hid1	T	A	11: 115,258,468 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Jrkl	G	A	9: 13,245,146 (GRCm39)	Q172*	probably null	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lman2l	A	C	1: 36,478,804 (GRCm39)	C103G	probably damaging	Het
Lrfn5	T	C	12: 61,890,276 (GRCm39)	S522P	probably damaging	Het
Mark3	A	T	12: 111,570,957 (GRCm39)	I86L	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mgst2	G	A	3: 51,571,949 (GRCm39)	V26I	probably damaging	Het
Neb	A	T	2: 52,077,525 (GRCm39)	Y158*	probably null	Het
Nipbl	T	C	15: 8,391,345 (GRCm39)	I210V	probably benign	Het
Or7g18	A	T	9: 18,786,907 (GRCm39)	I95L	probably damaging	Het
Or8j3b	C	T	2: 86,205,523 (GRCm39)	A78T	possibly damaging	Het
Pcdhb8	C	T	18: 37,489,935 (GRCm39)	P538S	probably damaging	Het
Postn	A	G	3: 54,278,376 (GRCm39)	D295G	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psen2	A	T	1: 180,068,347 (GRCm39)	V102E	probably damaging	Het
Ptpn9	A	T	9: 56,943,847 (GRCm39)	K126N	possibly damaging	Het
Ptprd	A	G	4: 76,046,922 (GRCm39)	I435T	probably damaging	Het
Rab39	T	C	9: 53,597,950 (GRCm39)	K105R	probably benign	Het
Robo2	C	A	16: 73,745,267 (GRCm39)	R840L	probably benign	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Ryr1	G	T	7: 28,793,667 (GRCm39)	T1267K	possibly damaging	Het
Sis	G	A	3: 72,863,482 (GRCm39)	T252I	probably damaging	Het
Slc41a3	A	T	6: 90,612,312 (GRCm39)	S201C	probably damaging	Het
Slitrk1	A	C	14: 109,148,735 (GRCm39)	S659A	probably benign	Het
Snx25	A	T	8: 46,488,715 (GRCm39)	M880K	probably damaging	Het
Tbxas1	C	T	6: 39,004,713 (GRCm39)	T320I	probably benign	Het
Tex44	T	C	1: 86,355,489 (GRCm39)	V466A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Tpst1	T	A	5: 130,131,343 (GRCm39)	M271K	probably benign	Het
Trank1	C	T	9: 111,194,265 (GRCm39)	T763I	possibly damaging	Het
Tshz3	A	T	7: 36,469,030 (GRCm39)	T340S	probably damaging	Het
Ttc5	T	C	14: 51,018,962 (GRCm39)	K52E	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wsb2	T	G	5: 117,501,643 (GRCm39)		probably benign	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
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'- ACTTTGCGTTAAGATGGAACTG -3'
(R):5'- GCACACTGGAAGCCATGTTC -3'

Sequencing Primer
(F):5'- ACCAAACCTCACTTATAATCATGATG -3'
(R):5'- GCCATGTTCTTAGAGAGACAGCTAC -3'

Posted On

2015-07-06