Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02714:Tlr12'

304686

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlr12

Ensembl Gene

ENSMUSG00000062545

Gene Name

toll-like receptor 12

Synonyms

LOC384059, Tlr11

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02714

Quality Score

Status

Chromosome

Chromosomal Location

128509239-128512412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128511506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 248 (L248P)

Ref Sequence

ENSEMBL: ENSMUSP00000074381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074829]

AlphaFold

Q6QNU9

Predicted Effect

probably damaging
Transcript: ENSMUST00000074829
AA Change: L248P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: L248P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	253	266	N/A	INTRINSIC
LRR	291	314	1.67e2	SMART
LRR	315	338	9.24e1	SMART
LRR_TYP	341	364	2.79e-4	SMART
LRR	365	388	4.34e-1	SMART
LRR	389	412	1.37e1	SMART
LRR	413	436	1.71e2	SMART
low complexity region	443	459	N/A	INTRINSIC
low complexity region	494	502	N/A	INTRINSIC
LRR	591	614	5.56e0	SMART
Pfam:TIR	760	905	5.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133382

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation exhibit a greatly increased susceptibility to kidney infection by uropathogenic bacteria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcam	T	A	7: 19,492,732 (GRCm39)		probably benign	Het
Bod1l	T	C	5: 41,973,682 (GRCm39)	D2544G	probably benign	Het
Cd86	T	C	16: 36,441,290 (GRCm39)	D59G	possibly damaging	Het
Ckmt2	A	G	13: 92,006,427 (GRCm39)	M306T	possibly damaging	Het
Dsc1	T	C	18: 20,220,542 (GRCm39)	E744G	probably damaging	Het
Gpr139	T	A	7: 118,744,342 (GRCm39)	D81V	possibly damaging	Het
Lsg1	T	C	16: 30,404,368 (GRCm39)		probably null	Het
Ly9	A	G	1: 171,432,686 (GRCm39)	V109A	possibly damaging	Het
Mcm3ap	T	A	10: 76,346,867 (GRCm39)	S1806T	probably benign	Het
Met	T	A	6: 17,491,851 (GRCm39)	Y204*	probably null	Het
Or8b35	T	A	9: 37,904,382 (GRCm39)	I198N	possibly damaging	Het
Ppp1r13l	T	C	7: 19,111,568 (GRCm39)	S798P	possibly damaging	Het
Ppp2r5b	C	T	19: 6,284,737 (GRCm39)	R42H	probably damaging	Het
Prg2	T	A	2: 84,813,849 (GRCm39)	I220N	probably damaging	Het
Prph	A	G	15: 98,954,747 (GRCm39)	D271G	probably damaging	Het
Rassf9	T	A	10: 102,348,424 (GRCm39)	L9Q	possibly damaging	Het
Rpap3	A	G	15: 97,594,458 (GRCm39)	Y157H	possibly damaging	Het
Tacstd2	A	T	6: 67,512,053 (GRCm39)	I213N	probably damaging	Het
Trip11	A	T	12: 101,850,260 (GRCm39)	I1268N	probably damaging	Het
Zp1	C	T	19: 10,895,976 (GRCm39)	G220D	probably damaging	Het

Other mutations in Tlr12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Tlr12	APN	4	128,511,215 (GRCm39)	missense	probably benign	0.00
IGL00654:Tlr12	APN	4	128,511,233 (GRCm39)	missense	probably benign	0.27
IGL01290:Tlr12	APN	4	128,511,630 (GRCm39)	missense	probably damaging	1.00
IGL01406:Tlr12	APN	4	128,510,132 (GRCm39)	nonsense	probably null
IGL01550:Tlr12	APN	4	128,509,535 (GRCm39)	missense	probably damaging	1.00
IGL02590:Tlr12	APN	4	128,511,182 (GRCm39)	missense	probably benign	0.00
IGL02592:Tlr12	APN	4	128,511,479 (GRCm39)	missense	probably benign	0.02
IGL02635:Tlr12	APN	4	128,510,609 (GRCm39)	missense	probably damaging	0.98
IGL03104:Tlr12	APN	4	128,509,685 (GRCm39)	missense	probably benign	0.01
IGL03131:Tlr12	APN	4	128,509,670 (GRCm39)	missense	probably damaging	1.00
IGL03329:Tlr12	APN	4	128,510,645 (GRCm39)	missense	possibly damaging	0.84
IGL03354:Tlr12	APN	4	128,509,730 (GRCm39)	missense	probably damaging	1.00
R0848:Tlr12	UTSW	4	128,510,084 (GRCm39)	missense	probably benign	0.05
R1536:Tlr12	UTSW	4	128,511,545 (GRCm39)	missense	possibly damaging	0.95
R1807:Tlr12	UTSW	4	128,511,229 (GRCm39)	missense	probably benign	0.21
R1989:Tlr12	UTSW	4	128,510,862 (GRCm39)	missense	probably benign	0.04
R2905:Tlr12	UTSW	4	128,509,802 (GRCm39)	missense	probably damaging	1.00
R3870:Tlr12	UTSW	4	128,510,361 (GRCm39)	missense	probably benign	0.00
R4026:Tlr12	UTSW	4	128,510,301 (GRCm39)	missense	probably benign	0.00
R4296:Tlr12	UTSW	4	128,511,581 (GRCm39)	missense	probably damaging	1.00
R4398:Tlr12	UTSW	4	128,509,988 (GRCm39)	missense	probably benign	0.09
R4528:Tlr12	UTSW	4	128,511,818 (GRCm39)	missense	probably damaging	1.00
R4559:Tlr12	UTSW	4	128,509,563 (GRCm39)	missense	probably damaging	1.00
R4599:Tlr12	UTSW	4	128,511,125 (GRCm39)	missense	probably benign	0.06
R4999:Tlr12	UTSW	4	128,511,473 (GRCm39)	missense	probably benign	0.38
R5054:Tlr12	UTSW	4	128,511,063 (GRCm39)	nonsense	probably null
R5177:Tlr12	UTSW	4	128,512,169 (GRCm39)	missense	probably damaging	0.96
R5207:Tlr12	UTSW	4	128,510,502 (GRCm39)	nonsense	probably null
R5533:Tlr12	UTSW	4	128,509,656 (GRCm39)	missense	probably damaging	0.99
R6484:Tlr12	UTSW	4	128,509,847 (GRCm39)	missense	probably damaging	1.00
R6568:Tlr12	UTSW	4	128,511,785 (GRCm39)	missense	probably benign	0.10
R6821:Tlr12	UTSW	4	128,510,685 (GRCm39)	missense	possibly damaging	0.95
R7465:Tlr12	UTSW	4	128,509,963 (GRCm39)	missense	probably damaging	1.00
R7594:Tlr12	UTSW	4	128,511,473 (GRCm39)	missense	probably benign	0.38
R7810:Tlr12	UTSW	4	128,510,501 (GRCm39)	missense	probably benign	0.00
R7957:Tlr12	UTSW	4	128,510,483 (GRCm39)	missense	probably benign	0.33
R8258:Tlr12	UTSW	4	128,511,492 (GRCm39)	missense	probably benign	0.38
R8259:Tlr12	UTSW	4	128,511,492 (GRCm39)	missense	probably benign	0.38
R8377:Tlr12	UTSW	4	128,509,566 (GRCm39)	missense	probably benign
R8422:Tlr12	UTSW	4	128,510,427 (GRCm39)	missense	probably damaging	1.00
R9098:Tlr12	UTSW	4	128,510,870 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16