Mutagenetix > Incidental Mutation

Incidental Mutation 'R6112:Trib1'

484924

Institutional Source

Beutler Lab

Gene Symbol

Trib1

Ensembl Gene

ENSMUSG00000032501

Gene Name

tribbles pseudokinase 1

Synonyms

A530090O15Rik, Trb1

MMRRC Submission

044261-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6112 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59520503-59528948 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 59523487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 174 (R174*)

Ref Sequence

ENSEMBL: ENSMUSP00000112828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067543] [ENSMUST00000118228]

AlphaFold

Q8K4K4

Predicted Effect

probably null
Transcript: ENSMUST00000067543
AA Change: R174*

SMART Domains

Protein: ENSMUSP00000068834
Gene: ENSMUSG00000032501
AA Change: R174*

Domain	Start	End	E-Value	Type
low complexity region	61	82	N/A	INTRINSIC
Pfam:Pkinase	105	338	1.1e-33	PFAM
Pfam:Pkinase_Tyr	120	335	2.1e-15	PFAM
Pfam:Kinase-like	124	326	1.4e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000118228
AA Change: R174*

SMART Domains

Protein: ENSMUSP00000112828
Gene: ENSMUSG00000032501
AA Change: R174*

Domain	Start	End	E-Value	Type
low complexity region	61	82	N/A	INTRINSIC
Pfam:Pkinase	104	218	7.9e-12	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Macrophages from mice homozygous for a knock-out allele exhibit impaired IL12 response to LPS, MALP-1, or CpG DNA. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	G	16: 14,278,780 (GRCm39)	Y1030C	probably damaging	Het
Adh5	G	T	3: 138,157,029 (GRCm39)	V197F	probably damaging	Het
Ankmy1	A	T	1: 92,798,684 (GRCm39)	F936I	probably damaging	Het
Aoc1	A	T	6: 48,885,625 (GRCm39)	D710V	probably damaging	Het
Aplp1	T	C	7: 30,134,902 (GRCm39)	E622G	probably damaging	Het
Arhgap20	T	C	9: 51,740,684 (GRCm39)	Y219H	probably damaging	Het
Bag3	A	G	7: 128,143,556 (GRCm39)	D184G	probably damaging	Het
Cacna1g	C	T	11: 94,300,072 (GRCm39)	A2216T	probably damaging	Het
Cbarp	T	C	10: 79,971,205 (GRCm39)		probably null	Het
Cep250	C	A	2: 155,836,503 (GRCm39)	L2211I	possibly damaging	Het
Cfap65	A	G	1: 74,942,298 (GRCm39)	I1752T	probably benign	Het
Col4a4	A	G	1: 82,431,604 (GRCm39)	V1560A	unknown	Het
Dapk3	A	T	10: 81,019,864 (GRCm39)	Q6L	probably benign	Het
Dctn5	A	G	7: 121,732,460 (GRCm39)		probably benign	Het
Eef1akmt1	A	T	14: 57,787,330 (GRCm39)	I182N	possibly damaging	Het
Eef1g	T	C	19: 8,954,955 (GRCm39)	F346S	probably damaging	Het
Erap1	G	T	13: 74,794,398 (GRCm39)	W19L	probably benign	Het
Gm10801	A	G	2: 98,494,409 (GRCm39)	H162R	probably benign	Het
Gpm6a	G	A	8: 55,507,845 (GRCm39)	A194T	probably benign	Het
Grip1	C	A	10: 119,829,137 (GRCm39)	N32K	probably benign	Het
Hmcn1	A	G	1: 150,494,687 (GRCm39)	I4134T	probably damaging	Het
Hspa14	G	A	2: 3,499,105 (GRCm39)	H230Y	probably benign	Het
Ift172	T	C	5: 31,414,241 (GRCm39)	T1435A	probably benign	Het
Igsf3	T	A	3: 101,358,322 (GRCm39)	Y738N	probably damaging	Het
Lcor	T	C	19: 41,547,520 (GRCm39)	V368A	possibly damaging	Het
Lmna	C	A	3: 88,393,928 (GRCm39)	E217*	probably null	Het
Lrp1b	C	T	2: 41,231,894 (GRCm39)	G337E	probably benign	Het
Maf1	A	G	15: 76,236,312 (GRCm39)		probably benign	Het
Magi1	T	C	6: 93,722,571 (GRCm39)	I436V	probably damaging	Het
Muc4	C	T	16: 32,596,157 (GRCm39)	T3123I	possibly damaging	Het
Muc5b	T	A	7: 141,417,042 (GRCm39)	H3329Q	probably benign	Het
Noa1	C	T	5: 77,457,593 (GRCm39)	R104Q	probably benign	Het
Odc1	T	G	12: 17,599,473 (GRCm39)	S267A	probably benign	Het
Or5p60	T	A	7: 107,724,369 (GRCm39)	I34F	probably benign	Het
Pam	A	G	1: 97,762,193 (GRCm39)	Y691H	probably damaging	Het
Pamr1	T	C	2: 102,441,953 (GRCm39)	Y181H	probably damaging	Het
Pcdhga2	T	A	18: 37,802,612 (GRCm39)	I152N	probably damaging	Het
Pigt	C	T	2: 164,348,365 (GRCm39)	Q437*	probably null	Het
Prx	T	C	7: 27,215,973 (GRCm39)	L158P	probably damaging	Het
Ptprh	T	A	7: 4,600,922 (GRCm39)	T152S	probably benign	Het
Pum1	G	A	4: 130,457,591 (GRCm39)	R201H	probably damaging	Het
Rad51ap2	T	C	12: 11,507,290 (GRCm39)	I404T	probably benign	Het
Radil	C	T	5: 142,529,399 (GRCm39)	R99H	probably damaging	Het
Rc3h2	C	T	2: 37,268,899 (GRCm39)	V856I	possibly damaging	Het
Slx4ip	T	A	2: 136,888,664 (GRCm39)	V115E	probably damaging	Het
Snx3	C	A	10: 42,402,042 (GRCm39)	S85R	probably benign	Het
Sppl2c	A	T	11: 104,077,963 (GRCm39)	E254D	probably benign	Het
Srms	C	A	2: 180,849,780 (GRCm39)	E237*	probably null	Het
Tenm1	C	T	X: 41,916,072 (GRCm39)	G404E	probably damaging	Het
Trank1	T	C	9: 111,220,805 (GRCm39)	L2514P	probably damaging	Het
Usp4	A	G	9: 108,233,703 (GRCm39)	Y108C	probably damaging	Het
Vmn2r60	A	T	7: 41,844,847 (GRCm39)	I737F	probably damaging	Het
Zfp600	A	T	4: 146,131,701 (GRCm39)	H123L	probably benign	Het
Zfp646	G	T	7: 127,478,190 (GRCm39)	R122S	possibly damaging	Het
Znfx1	A	G	2: 166,880,126 (GRCm39)	Y553H	probably benign	Het

Other mutations in Trib1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Trib1	APN	15	59,523,476 (GRCm39)	missense	probably damaging	1.00
IGL01648:Trib1	APN	15	59,526,350 (GRCm39)	missense	probably benign	0.38
IGL02267:Trib1	APN	15	59,523,449 (GRCm39)	missense	probably damaging	0.98
IGL03018:Trib1	APN	15	59,526,333 (GRCm39)	missense	probably damaging	1.00
Dibble	UTSW	15	59,526,324 (GRCm39)	missense	probably damaging	1.00
lawrence	UTSW	15	59,521,264 (GRCm39)	missense	probably benign
Topcat	UTSW	15	59,523,487 (GRCm39)	nonsense	probably null
R1994:Trib1	UTSW	15	59,521,192 (GRCm39)	missense	possibly damaging	0.70
R2073:Trib1	UTSW	15	59,526,189 (GRCm39)	missense	probably damaging	1.00
R2407:Trib1	UTSW	15	59,526,449 (GRCm39)	missense	probably benign	0.00
R3709:Trib1	UTSW	15	59,526,210 (GRCm39)	missense	probably damaging	1.00
R5759:Trib1	UTSW	15	59,526,350 (GRCm39)	missense	probably benign
R5986:Trib1	UTSW	15	59,526,451 (GRCm39)	splice site	probably null
R6083:Trib1	UTSW	15	59,526,324 (GRCm39)	missense	probably damaging	1.00
R6084:Trib1	UTSW	15	59,526,324 (GRCm39)	missense	probably damaging	1.00
R6086:Trib1	UTSW	15	59,526,324 (GRCm39)	missense	probably damaging	1.00
R6113:Trib1	UTSW	15	59,523,487 (GRCm39)	nonsense	probably null
R6316:Trib1	UTSW	15	59,521,264 (GRCm39)	missense	probably benign
R7288:Trib1	UTSW	15	59,526,471 (GRCm39)	missense	probably benign
R7663:Trib1	UTSW	15	59,523,562 (GRCm39)	missense	probably damaging	1.00
R7744:Trib1	UTSW	15	59,526,512 (GRCm39)	missense	probably benign	0.04
R8061:Trib1	UTSW	15	59,523,404 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TCAGATAGGACCTTGGAGGC -3'
(R):5'- TGTTCCAAAAGGCCACCAGAAG -3'

Sequencing Primer
(F):5'- TAAACAGGTCACTTTTCTCCCCACAG -3'
(R):5'- CACCAGAAGTGCTGTGTCAG -3'

Posted On

2017-08-16