Mutagenetix > Incidental Mutation

Incidental Mutation 'R5759:Trib1'

445208

Institutional Source

Beutler Lab

Gene Symbol

Trib1

Ensembl Gene

ENSMUSG00000032501

Gene Name

tribbles pseudokinase 1

Synonyms

A530090O15Rik, Trb1

MMRRC Submission

043361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5759 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59520503-59528948 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59526350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 307 (V307I)

Ref Sequence

ENSEMBL: ENSMUSP00000068834 (fasta)

Gene Model

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

AlphaFold

Q8K4K4

Predicted Effect

probably benign
Transcript: ENSMUST00000067543
AA Change: V307I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068834
Gene: ENSMUSG00000032501
AA Change: V307I

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 benign
Transcript: ENSMUST00000118228

SMART Domains

Protein: ENSMUSP00000112828
Gene: ENSMUSG00000032501

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

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,419 (GRCm39)	S1203P	probably benign	Het
Adamts1	A	G	16: 85,594,936 (GRCm39)	V341A	possibly damaging	Het
Arf2	G	A	11: 103,874,459 (GRCm39)	G144S	probably benign	Het
Atr	A	G	9: 95,756,455 (GRCm39)	N862D	probably benign	Het
Cep295nl	T	C	11: 118,224,472 (GRCm39)	H124R	possibly damaging	Het
Chd6	C	T	2: 160,825,682 (GRCm39)	V1141I	possibly damaging	Het
Chst5	C	A	8: 112,616,842 (GRCm39)	K259N	probably benign	Het
Dchs1	T	A	7: 105,413,383 (GRCm39)	D1144V	probably damaging	Het
Dmxl2	T	C	9: 54,282,792 (GRCm39)	Y2795C	probably damaging	Het
Dnah7b	A	G	1: 46,316,280 (GRCm39)	N3131S	probably damaging	Het
Dnah7c	G	A	1: 46,654,527 (GRCm39)	G1436R	probably damaging	Het
Emp2	T	A	16: 10,102,374 (GRCm39)	Y146F	probably damaging	Het
Exoc6	C	T	19: 37,562,189 (GRCm39)	Q148*	probably null	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fam186b	T	G	15: 99,177,598 (GRCm39)	Y576S	probably benign	Het
Fras1	T	C	5: 96,857,775 (GRCm39)	V2023A	probably benign	Het
Grm5	A	C	7: 87,675,808 (GRCm39)	M441L	probably damaging	Het
Hhatl	A	G	9: 121,617,343 (GRCm39)	Y297H	probably damaging	Het
Ifi30	A	G	8: 71,219,188 (GRCm39)		probably benign	Het
Ing2	G	T	8: 48,122,040 (GRCm39)	N169K	possibly damaging	Het
Kat6a	T	G	8: 23,428,028 (GRCm39)	S1128A	probably benign	Het
Madd	T	C	2: 90,992,420 (GRCm39)	E1041G	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mfsd5	G	A	15: 102,189,513 (GRCm39)	G295D	possibly damaging	Het
Minar1	A	T	9: 89,483,125 (GRCm39)	N757K	probably benign	Het
Mmp20	T	A	9: 7,628,378 (GRCm39)		probably null	Het
Mybphl	T	C	3: 108,282,070 (GRCm39)	V100A	probably benign	Het
Ndfip2	T	A	14: 105,539,750 (GRCm39)		probably null	Het
Or7e170	A	G	9: 19,795,484 (GRCm39)	V39A	probably benign	Het
Or7e175	T	A	9: 20,049,228 (GRCm39)	V272E	probably benign	Het
Or8b1c	T	A	9: 38,384,831 (GRCm39)	S263T	possibly damaging	Het
Phf19	T	G	2: 34,787,135 (GRCm39)	D443A	probably damaging	Het
Piezo1	A	G	8: 123,234,394 (GRCm39)	V84A	probably damaging	Het
Septin9	A	G	11: 117,243,094 (GRCm39)	I94V	probably benign	Het
Slc35a1	C	A	4: 34,675,032 (GRCm39)	V132L	probably benign	Het
Sntg1	G	A	1: 8,484,494 (GRCm39)	S442L	probably benign	Het
Tcf25	A	G	8: 124,108,196 (GRCm39)	T84A	probably benign	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tmem106b	A	G	6: 13,075,041 (GRCm39)	E76G	probably damaging	Het
Tnk2	C	T	16: 32,499,482 (GRCm39)	P932S	probably benign	Het
Trib3	A	T	2: 152,185,215 (GRCm39)	D11E	probably benign	Het
Trim34b	T	C	7: 103,980,640 (GRCm39)	S243P	possibly damaging	Het
Vmn2r50	A	G	7: 9,781,905 (GRCm39)	I280T	probably damaging	Het
Zfp1010	A	T	2: 176,956,765 (GRCm39)	C244*	probably null	Het
Zfp445	G	T	9: 122,682,211 (GRCm39)	Q577K	probably benign	Het
Zfp599	T	C	9: 22,160,957 (GRCm39)	K403E	probably damaging	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
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
R6112:Trib1	UTSW	15	59,523,487 (GRCm39)	nonsense	probably null
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'- TGATGCGCTGTCAGATAAACATG -3'
(R):5'- GGAACTTATGTCACTGTCCTCC -3'

Sequencing Primer
(F):5'- GCTGTCAGATAAACATGGCTGCC -3'
(R):5'- CTGGTACTCAGGAACAATCTGGTC -3'

Posted On

2016-11-21