Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02592:Tlr12'

299766

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 #

IGL02592

Quality Score

Status

Chromosome

Chromosomal Location

128509239-128512412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128511479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 257 (T257M)

Ref Sequence

ENSEMBL: ENSMUSP00000074381 (fasta)

Gene Model

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

AlphaFold

Q6QNU9

Predicted Effect

probably benign
Transcript: ENSMUST00000074829
AA Change: T257M

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000074381
Gene: ENSMUSG00000062545
AA Change: T257M

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Cass4	T	C	2: 172,258,248 (GRCm39)	L82P	probably benign	Het
Cd53	C	A	3: 106,670,601 (GRCm39)	C144F	probably damaging	Het
Fancc	G	A	13: 63,508,011 (GRCm39)	R175W	probably damaging	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gpr149	T	C	3: 62,511,231 (GRCm39)	D256G	possibly damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Lvrn	T	A	18: 46,983,658 (GRCm39)	C134S	probably damaging	Het
Mroh8	A	T	2: 157,058,889 (GRCm39)	Y926N	probably damaging	Het
Nfxl1	A	G	5: 72,671,572 (GRCm39)	S896P	probably benign	Het
Orc4	A	T	2: 48,823,090 (GRCm39)		probably null	Het
Pcsk6	T	A	7: 65,618,776 (GRCm39)	H447Q	probably damaging	Het
Rfx6	C	A	10: 51,592,119 (GRCm39)	Q121K	probably damaging	Het
Rnase6	T	C	14: 51,367,982 (GRCm39)	Y125H	probably benign	Het
Sbno1	A	T	5: 124,538,872 (GRCm39)	Y494N	probably damaging	Het
Sppl3	G	A	5: 115,233,970 (GRCm39)	V347M	probably damaging	Het
Tmem132e	A	T	11: 82,325,462 (GRCm39)	D154V	probably damaging	Het
Zfp345	A	G	2: 150,315,229 (GRCm39)	Y103H	probably benign	Het
Zfp947	T	A	17: 22,365,233 (GRCm39)	Q147L	possibly 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
IGL02635:Tlr12	APN	4	128,510,609 (GRCm39)	missense	probably damaging	0.98
IGL02714:Tlr12	APN	4	128,511,506 (GRCm39)	missense	probably damaging	1.00
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