Mutagenetix > Incidental Mutation

Incidental Mutation 'R5539:Trip11'

435837

Institutional Source

Beutler Lab

Gene Symbol

Trip11

Ensembl Gene

ENSMUSG00000021188

Gene Name

thyroid hormone receptor interactor 11

Synonyms

3110031G15Rik, TRIP230, 2610511G22Rik, GMAP-210, 6030460N08Rik

MMRRC Submission

043097-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101800304-101879463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101851386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 893 (S893P)

Ref Sequence

ENSEMBL: ENSMUSP00000021605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021605] [ENSMUST00000176728] [ENSMUST00000177183] [ENSMUST00000177536]

AlphaFold

E9Q512

Predicted Effect

probably damaging
Transcript: ENSMUST00000021605
AA Change: S893P

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

SMART Domains

Protein: ENSMUSP00000021605
Gene: ENSMUSG00000021188
AA Change: S893P

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
coiled coil region	54	130	N/A	INTRINSIC
coiled coil region	167	194	N/A	INTRINSIC
coiled coil region	218	702	N/A	INTRINSIC
coiled coil region	754	990	N/A	INTRINSIC
coiled coil region	1022	1051	N/A	INTRINSIC
coiled coil region	1196	1261	N/A	INTRINSIC
low complexity region	1310	1322	N/A	INTRINSIC
coiled coil region	1336	1481	N/A	INTRINSIC
coiled coil region	1547	1657	N/A	INTRINSIC
coiled coil region	1681	1771	N/A	INTRINSIC
low complexity region	1934	1945	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176728

SMART Domains

Protein: ENSMUSP00000134992
Gene: ENSMUSG00000021188

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
Pfam:Orthopox_A5L	48	282	6.5e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177183
AA Change: S608P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134976
Gene: ENSMUSG00000021188
AA Change: S608P

Domain	Start	End	E-Value	Type
coiled coil region	33	158	N/A	INTRINSIC
coiled coil region	179	417	N/A	INTRINSIC
coiled coil region	469	705	N/A	INTRINSIC
coiled coil region	737	766	N/A	INTRINSIC
coiled coil region	911	976	N/A	INTRINSIC
low complexity region	1025	1037	N/A	INTRINSIC
coiled coil region	1051	1196	N/A	INTRINSIC
coiled coil region	1262	1372	N/A	INTRINSIC
coiled coil region	1396	1486	N/A	INTRINSIC
low complexity region	1649	1660	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177480

Predicted Effect

probably benign
Transcript: ENSMUST00000177536

SMART Domains

Protein: ENSMUSP00000135669
Gene: ENSMUSG00000021188

Domain	Start	End	E-Value	Type
low complexity region	2	26	N/A	INTRINSIC
coiled coil region	53	129	N/A	INTRINSIC
coiled coil region	166	193	N/A	INTRINSIC
coiled coil region	217	517	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with small size, lung hypoplasia, omphalocele, and ventricular septal defects. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Gene trapped(11) Chemically induced(1)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	T	16: 88,555,917 (GRCm39)	S44C	probably damaging	Het
Abca4	A	G	3: 121,963,557 (GRCm39)	I846V	probably damaging	Het
Aldh4a1	T	C	4: 139,365,833 (GRCm39)	S275P	probably benign	Het
Arhgap12	A	T	18: 6,111,932 (GRCm39)	L144H	probably benign	Het
Ccdc141	A	T	2: 76,845,437 (GRCm39)	I1210N	probably damaging	Het
Ccdc175	T	C	12: 72,191,587 (GRCm39)	T330A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dnah17	T	C	11: 117,964,486 (GRCm39)	K2444E	probably benign	Het
Dnajc3	G	A	14: 119,208,159 (GRCm39)	V265M	probably damaging	Het
Flg2	T	A	3: 93,127,753 (GRCm39)	Y2222N	unknown	Het
Flnc	G	T	6: 29,446,229 (GRCm39)	G882V	probably damaging	Het
Fndc5	T	A	4: 129,032,514 (GRCm39)	V39D	probably damaging	Het
Gabrr3	A	T	16: 59,281,758 (GRCm39)	H371L	probably benign	Het
Gm10717	A	T	9: 3,030,438 (GRCm39)	H33L	probably damaging	Het
Gm5422	A	G	10: 31,124,646 (GRCm39)		noncoding transcript	Het
Kri1	G	A	9: 21,190,668 (GRCm39)	Q280*	probably null	Het
Lcp1	T	C	14: 75,466,738 (GRCm39)	V615A	probably benign	Het
Ltbp4	T	C	7: 27,027,149 (GRCm39)	Y407C	probably damaging	Het
Med30	G	T	15: 52,584,462 (GRCm39)	D127Y	probably damaging	Het
Mybpc2	A	G	7: 44,164,317 (GRCm39)	V416A	probably benign	Het
Notch2	C	T	3: 98,044,898 (GRCm39)	R1607C	probably damaging	Het
Nr4a3	T	A	4: 48,056,525 (GRCm39)		probably null	Het
Ntf5	G	T	7: 45,065,354 (GRCm39)	R162L	probably benign	Het
Nxpe3	A	G	16: 55,711,034 (GRCm39)	W2R	possibly damaging	Het
Or10d1c	T	C	9: 38,893,573 (GRCm39)	I256V	possibly damaging	Het
Or14j4	T	A	17: 37,921,646 (GRCm39)	M1L	probably benign	Het
Or1m1	G	A	9: 18,666,134 (GRCm39)	R266C	probably damaging	Het
Or5p58	A	T	7: 107,694,433 (GRCm39)	C115S	probably benign	Het
Pan2	C	A	10: 128,144,002 (GRCm39)	D99E	probably benign	Het
Pcdh12	T	C	18: 38,414,797 (GRCm39)	H776R	possibly damaging	Het
Prdm2	T	C	4: 142,859,264 (GRCm39)	H1342R	possibly damaging	Het
Prpf8	A	G	11: 75,394,464 (GRCm39)	T1800A	probably benign	Het
Prss40	T	C	1: 34,591,760 (GRCm39)	*148W	probably null	Het
Pygo1	C	T	9: 72,852,061 (GRCm39)	P83S	probably damaging	Het
Raf1	G	T	6: 115,596,317 (GRCm39)	S619R	probably damaging	Het
Rtf1	A	G	2: 119,560,405 (GRCm39)	M596V	possibly damaging	Het
Slc12a5	T	A	2: 164,829,126 (GRCm39)	D578E	possibly damaging	Het
Slc35b4	A	G	6: 34,153,737 (GRCm39)	V18A	probably damaging	Het
Spata31	T	A	13: 65,070,783 (GRCm39)	I977K	probably benign	Het
Tor2a	T	C	2: 32,650,672 (GRCm39)	I222T	probably damaging	Het
Trim23	T	C	13: 104,334,541 (GRCm39)	V347A	probably damaging	Het
Trmt10c	G	A	16: 55,855,324 (GRCm39)	P104S	probably damaging	Het
Ubr3	A	T	2: 69,850,877 (GRCm39)	Y1765F	probably damaging	Het
Zfp951	C	T	5: 104,962,712 (GRCm39)	E285K	probably damaging	Het

Other mutations in Trip11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Trip11	APN	12	101,852,406 (GRCm39)	missense	probably benign	0.37
IGL00484:Trip11	APN	12	101,851,570 (GRCm39)	nonsense	probably null
IGL00972:Trip11	APN	12	101,860,596 (GRCm39)	missense	probably null	1.00
IGL01476:Trip11	APN	12	101,865,170 (GRCm39)	missense	probably damaging	0.96
IGL01591:Trip11	APN	12	101,849,604 (GRCm39)	missense	probably damaging	0.98
IGL01667:Trip11	APN	12	101,845,121 (GRCm39)	missense	probably damaging	1.00
IGL01764:Trip11	APN	12	101,850,890 (GRCm39)	missense	probably damaging	1.00
IGL01789:Trip11	APN	12	101,838,090 (GRCm39)	missense	probably benign	0.05
IGL01814:Trip11	APN	12	101,850,747 (GRCm39)	missense	probably damaging	0.98
IGL01898:Trip11	APN	12	101,851,935 (GRCm39)	missense	probably benign
IGL01924:Trip11	APN	12	101,853,143 (GRCm39)	missense	possibly damaging	0.93
IGL02020:Trip11	APN	12	101,850,572 (GRCm39)	missense	probably damaging	1.00
IGL02475:Trip11	APN	12	101,861,942 (GRCm39)	missense	probably benign	0.01
IGL02544:Trip11	APN	12	101,859,780 (GRCm39)	missense	probably damaging	1.00
IGL02678:Trip11	APN	12	101,849,649 (GRCm39)	missense	probably damaging	0.96
IGL02714:Trip11	APN	12	101,850,260 (GRCm39)	missense	probably damaging	1.00
IGL02718:Trip11	APN	12	101,852,284 (GRCm39)	missense	probably benign	0.24
IGL02904:Trip11	APN	12	101,853,097 (GRCm39)	missense	probably damaging	1.00
IGL03012:Trip11	APN	12	101,850,195 (GRCm39)	missense	probably damaging	1.00
IGL03191:Trip11	APN	12	101,865,184 (GRCm39)	missense	probably damaging	1.00
IGL03327:Trip11	APN	12	101,849,677 (GRCm39)	missense	possibly damaging	0.87
IGL03337:Trip11	APN	12	101,851,278 (GRCm39)	missense	probably damaging	1.00
NA:Trip11	UTSW	12	101,860,580 (GRCm39)	splice site	probably null
R0027:Trip11	UTSW	12	101,851,428 (GRCm39)	missense	probably benign	0.00
R0028:Trip11	UTSW	12	101,851,016 (GRCm39)	missense	probably damaging	1.00
R0238:Trip11	UTSW	12	101,850,987 (GRCm39)	missense	probably damaging	1.00
R0238:Trip11	UTSW	12	101,850,987 (GRCm39)	missense	probably damaging	1.00
R0239:Trip11	UTSW	12	101,850,987 (GRCm39)	missense	probably damaging	1.00
R0239:Trip11	UTSW	12	101,850,987 (GRCm39)	missense	probably damaging	1.00
R0505:Trip11	UTSW	12	101,851,931 (GRCm39)	missense	probably damaging	0.98
R0556:Trip11	UTSW	12	101,850,777 (GRCm39)	nonsense	probably null
R0573:Trip11	UTSW	12	101,853,119 (GRCm39)	missense	probably benign	0.02
R0626:Trip11	UTSW	12	101,852,235 (GRCm39)	missense	possibly damaging	0.54
R1519:Trip11	UTSW	12	101,852,419 (GRCm39)	missense	probably benign	0.04
R1530:Trip11	UTSW	12	101,879,026 (GRCm39)	missense	unknown
R1647:Trip11	UTSW	12	101,850,651 (GRCm39)	nonsense	probably null
R1648:Trip11	UTSW	12	101,850,651 (GRCm39)	nonsense	probably null
R1856:Trip11	UTSW	12	101,849,592 (GRCm39)	nonsense	probably null
R2013:Trip11	UTSW	12	101,803,981 (GRCm39)	missense	probably damaging	1.00
R2017:Trip11	UTSW	12	101,851,619 (GRCm39)	missense	probably benign	0.00
R2206:Trip11	UTSW	12	101,839,701 (GRCm39)	missense	probably benign	0.25
R2207:Trip11	UTSW	12	101,839,701 (GRCm39)	missense	probably benign	0.25
R2304:Trip11	UTSW	12	101,865,236 (GRCm39)	missense	possibly damaging	0.58
R2328:Trip11	UTSW	12	101,845,086 (GRCm39)	makesense	probably null
R2513:Trip11	UTSW	12	101,803,986 (GRCm39)	missense	possibly damaging	0.94
R3499:Trip11	UTSW	12	101,859,953 (GRCm39)	missense	possibly damaging	0.87
R4105:Trip11	UTSW	12	101,860,581 (GRCm39)	nonsense	probably null
R4124:Trip11	UTSW	12	101,861,957 (GRCm39)	nonsense	probably null
R4126:Trip11	UTSW	12	101,861,957 (GRCm39)	nonsense	probably null
R4128:Trip11	UTSW	12	101,861,957 (GRCm39)	nonsense	probably null
R4175:Trip11	UTSW	12	101,861,957 (GRCm39)	nonsense	probably null
R4176:Trip11	UTSW	12	101,861,957 (GRCm39)	nonsense	probably null
R4181:Trip11	UTSW	12	101,860,027 (GRCm39)	missense	probably damaging	1.00
R4296:Trip11	UTSW	12	101,852,127 (GRCm39)	nonsense	probably null
R4302:Trip11	UTSW	12	101,860,027 (GRCm39)	missense	probably damaging	1.00
R4306:Trip11	UTSW	12	101,853,198 (GRCm39)	missense	probably benign
R4342:Trip11	UTSW	12	101,850,575 (GRCm39)	missense	probably damaging	1.00
R4576:Trip11	UTSW	12	101,852,499 (GRCm39)	nonsense	probably null
R4586:Trip11	UTSW	12	101,849,600 (GRCm39)	missense	possibly damaging	0.55
R4634:Trip11	UTSW	12	101,803,875 (GRCm39)	missense	probably damaging	1.00
R4696:Trip11	UTSW	12	101,851,549 (GRCm39)	missense	possibly damaging	0.71
R4792:Trip11	UTSW	12	101,851,705 (GRCm39)	missense	probably benign	0.10
R4903:Trip11	UTSW	12	101,853,065 (GRCm39)	critical splice donor site	probably null
R5001:Trip11	UTSW	12	101,851,169 (GRCm39)	nonsense	probably null
R5017:Trip11	UTSW	12	101,812,879 (GRCm39)	missense	probably benign	0.00
R5227:Trip11	UTSW	12	101,851,179 (GRCm39)	missense	probably damaging	1.00
R5231:Trip11	UTSW	12	101,851,860 (GRCm39)	missense	probably damaging	0.96
R5754:Trip11	UTSW	12	101,851,924 (GRCm39)	nonsense	probably null
R5755:Trip11	UTSW	12	101,851,924 (GRCm39)	nonsense	probably null
R5890:Trip11	UTSW	12	101,852,231 (GRCm39)	missense	probably damaging	0.99
R5910:Trip11	UTSW	12	101,849,738 (GRCm39)	missense	probably damaging	1.00
R6083:Trip11	UTSW	12	101,856,001 (GRCm39)	missense	probably benign	0.00
R6208:Trip11	UTSW	12	101,865,154 (GRCm39)	missense	probably damaging	1.00
R6216:Trip11	UTSW	12	101,856,859 (GRCm39)	missense	probably benign	0.31
R6315:Trip11	UTSW	12	101,851,837 (GRCm39)	missense	possibly damaging	0.84
R6413:Trip11	UTSW	12	101,851,790 (GRCm39)	missense	probably benign	0.12
R6590:Trip11	UTSW	12	101,851,710 (GRCm39)	missense	possibly damaging	0.92
R6690:Trip11	UTSW	12	101,851,710 (GRCm39)	missense	possibly damaging	0.92
R6914:Trip11	UTSW	12	101,812,879 (GRCm39)	missense	probably benign	0.00
R6938:Trip11	UTSW	12	101,803,886 (GRCm39)	missense	probably damaging	0.98
R7015:Trip11	UTSW	12	101,859,942 (GRCm39)	missense	probably damaging	1.00
R7023:Trip11	UTSW	12	101,852,126 (GRCm39)	missense	probably benign	0.13
R7133:Trip11	UTSW	12	101,850,329 (GRCm39)	missense	probably damaging	0.97
R7271:Trip11	UTSW	12	101,850,611 (GRCm39)	missense	probably damaging	1.00
R7424:Trip11	UTSW	12	101,851,457 (GRCm39)	missense	probably damaging	1.00
R7431:Trip11	UTSW	12	101,850,278 (GRCm39)	missense	possibly damaging	0.84
R7472:Trip11	UTSW	12	101,851,639 (GRCm39)	missense	probably benign	0.00
R7491:Trip11	UTSW	12	101,851,694 (GRCm39)	missense	probably damaging	1.00
R7752:Trip11	UTSW	12	101,853,233 (GRCm39)	missense	probably benign	0.01
R7763:Trip11	UTSW	12	101,811,114 (GRCm39)	missense	probably benign	0.03
R7779:Trip11	UTSW	12	101,849,796 (GRCm39)	missense	probably damaging	0.97
R7844:Trip11	UTSW	12	101,844,403 (GRCm39)	missense	probably damaging	1.00
R8055:Trip11	UTSW	12	101,803,924 (GRCm39)	missense	probably damaging	1.00
R8076:Trip11	UTSW	12	101,849,741 (GRCm39)	missense	probably damaging	1.00
R8288:Trip11	UTSW	12	101,860,643 (GRCm39)	missense	possibly damaging	0.73
R8294:Trip11	UTSW	12	101,811,160 (GRCm39)	missense	possibly damaging	0.93
R8318:Trip11	UTSW	12	101,879,063 (GRCm39)	missense	unknown
R8690:Trip11	UTSW	12	101,839,656 (GRCm39)	missense	possibly damaging	0.76
R8879:Trip11	UTSW	12	101,828,857 (GRCm39)	missense	probably benign	0.00
R8964:Trip11	UTSW	12	101,811,315 (GRCm39)	critical splice donor site	probably null
R9005:Trip11	UTSW	12	101,845,131 (GRCm39)	missense	probably benign	0.02
R9013:Trip11	UTSW	12	101,851,377 (GRCm39)	missense	probably damaging	0.99
R9020:Trip11	UTSW	12	101,850,770 (GRCm39)	missense	possibly damaging	0.91
R9041:Trip11	UTSW	12	101,845,127 (GRCm39)	missense	probably benign	0.06
R9234:Trip11	UTSW	12	101,811,990 (GRCm39)	critical splice donor site	probably null
R9447:Trip11	UTSW	12	101,850,148 (GRCm39)	missense	probably damaging	1.00
R9631:Trip11	UTSW	12	101,859,807 (GRCm39)	missense	probably benign
R9641:Trip11	UTSW	12	101,859,957 (GRCm39)	nonsense	probably null
R9691:Trip11	UTSW	12	101,850,123 (GRCm39)	missense	probably benign	0.00
R9751:Trip11	UTSW	12	101,850,765 (GRCm39)	missense	possibly damaging	0.54
X0020:Trip11	UTSW	12	101,852,172 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTTTCTTCATGCAACTGGG -3'
(R):5'- CAAATGTGCTCAGACCTTAAGG -3'

Sequencing Primer
(F):5'- AAAGAGTCGTGTGTGTGAGATACTC -3'
(R):5'- TGTGCTCAGACCTTAAGGAAAAATG -3'

Posted On

2016-10-24