Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00801:Trpa1'

14596

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trpa1

Ensembl Gene

ENSMUSG00000032769

Gene Name

transient receptor potential cation channel, subfamily A, member 1

Synonyms

ANKTM1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL00801

Quality Score

Status

Chromosome

Chromosomal Location

14872648-14918862 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14891333 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 627 (M627T)

Ref Sequence

ENSEMBL: ENSMUSP00000043594 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041447]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041447
AA Change: M627T

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043594
Gene: ENSMUSG00000032769
AA Change: M627T

Domain	Start	End	E-Value	Type
ANK	63	94	1.01e2	SMART
ANK	98	127	9.7e-8	SMART
ANK	131	161	1.36e-2	SMART
ANK	165	194	5.45e-2	SMART
ANK	198	226	3.07e2	SMART
ANK	239	268	1.99e-4	SMART
ANK	272	302	1.33e2	SMART
ANK	309	338	4.19e-3	SMART
ANK	342	371	2.34e-1	SMART
ANK	413	442	3.41e-3	SMART
ANK	446	475	5.75e-1	SMART
ANK	482	511	4.1e-6	SMART
ANK	514	543	1.68e-2	SMART
ANK	548	577	4.97e-5	SMART
Blast:ANK	580	609	2e-11	BLAST
Pfam:Ion_trans	736	975	1.8e-11	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The structure of the protein encoded by this gene is highly related to both the protein ankyrin and transmembrane proteins. The specific function of this protein has not yet been determined; however, studies indicate the function may involve a role in signal transduction and growth control. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in altered nociception and neuron responses to isothiocyanate or thiosulfinate compounds like those found in mustard oil and garlic. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	C	12: 72,881,386	T524A	possibly damaging	Het
Abcb7	T	C	X: 104,295,978	I562V	possibly damaging	Het
Anapc4	T	A	5: 52,857,211	V472D	probably damaging	Het
Arhgef37	A	G	18: 61,499,834	Y511H	probably damaging	Het
Atxn3	A	G	12: 101,926,508	S316P	possibly damaging	Het
B3galt1	A	T	2: 68,117,976	T12S	possibly damaging	Het
Cdc14a	G	T	3: 116,294,844	S394*	probably null	Het
Celsr3	T	C	9: 108,842,576	V2458A	probably benign	Het
Cyr61	T	A	3: 145,648,610	D182V	probably damaging	Het
Dapk1	C	T	13: 60,761,248	T1225I	probably benign	Het
Fyb	A	G	15: 6,644,824	K647R	possibly damaging	Het
Gabra5	C	A	7: 57,488,988	W104L	probably damaging	Het
Gjb6	A	T	14: 57,124,041	N254K	possibly damaging	Het
Golga4	T	A	9: 118,538,926	L371Q	probably damaging	Het
Gucy2g	C	T	19: 55,233,103	R322Q	probably benign	Het
Hnf1b	C	T	11: 83,855,924	A122V	probably damaging	Het
Insrr	C	T	3: 87,813,808	L1089F	probably damaging	Het
Knop1	A	G	7: 118,852,644	V284A	probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Map1b	C	T	13: 99,430,097	E2039K	unknown	Het
Myof	A	G	19: 37,986,073	I206T	probably damaging	Het
Nf1	A	T	11: 79,428,700		probably benign	Het
Nol8	A	G	13: 49,662,228	D586G	probably benign	Het
Nudt5	T	C	2: 5,866,357	F166S	probably damaging	Het
Ociad1	T	A	5: 73,304,566	Y87N	probably damaging	Het
Qtrt2	T	C	16: 43,881,189	K3E	probably damaging	Het
Rictor	G	A	15: 6,794,534	V1627I	probably damaging	Het
Skint2	A	T	4: 112,625,991	M198L	possibly damaging	Het
Slitrk5	A	G	14: 111,680,665	M574V	probably benign	Het
Thbs1	A	G	2: 118,122,973	D957G	probably damaging	Het
Tmem198b	A	C	10: 128,803,145	L43R	probably damaging	Het
Zdbf2	T	C	1: 63,303,038	F192S	possibly damaging	Het
Zfp961	T	G	8: 71,965,888	M54R	probably damaging	Het

Other mutations in Trpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Trpa1	APN	1	14880277	splice site	probably benign
IGL00957:Trpa1	APN	1	14881668	missense	probably damaging	0.99
IGL01307:Trpa1	APN	1	14896547	missense	probably benign	0.23
IGL01336:Trpa1	APN	1	14886880	splice site	probably benign
IGL01408:Trpa1	APN	1	14889413	missense	probably benign	0.03
IGL01504:Trpa1	APN	1	14882219	missense	possibly damaging	0.79
IGL01543:Trpa1	APN	1	14900076	missense	probably damaging	1.00
IGL01609:Trpa1	APN	1	14912383	missense	probably damaging	0.99
IGL01895:Trpa1	APN	1	14887643	missense	possibly damaging	0.87
IGL02449:Trpa1	APN	1	14898157	missense	probably damaging	1.00
IGL02936:Trpa1	APN	1	14875969	splice site	probably null
fear-2	UTSW	1	14891303	critical splice donor site	probably null
petrified	UTSW	1	14884116	missense	probably damaging	1.00
R0008:Trpa1	UTSW	1	14903215	missense	possibly damaging	0.53
R0008:Trpa1	UTSW	1	14903215	missense	possibly damaging	0.53
R0317:Trpa1	UTSW	1	14881632	missense	probably benign	0.03
R0454:Trpa1	UTSW	1	14885748	critical splice donor site	probably null
R0828:Trpa1	UTSW	1	14875884	missense	probably damaging	1.00
R0944:Trpa1	UTSW	1	14912361	splice site	probably null
R0962:Trpa1	UTSW	1	14898163	missense	possibly damaging	0.61
R1025:Trpa1	UTSW	1	14904183	missense	probably benign	0.01
R1035:Trpa1	UTSW	1	14891303	critical splice donor site	probably null
R1134:Trpa1	UTSW	1	14881748	missense	possibly damaging	0.95
R1278:Trpa1	UTSW	1	14918723	critical splice donor site	probably null
R1497:Trpa1	UTSW	1	14885812	missense	probably benign	0.30
R1617:Trpa1	UTSW	1	14873675	missense	probably damaging	1.00
R1800:Trpa1	UTSW	1	14874424	missense	probably benign	0.04
R1856:Trpa1	UTSW	1	14899388	nonsense	probably null
R1886:Trpa1	UTSW	1	14889425	missense	probably benign	0.00
R2004:Trpa1	UTSW	1	14905983	missense	possibly damaging	0.83
R2152:Trpa1	UTSW	1	14899401	missense	probably damaging	1.00
R2172:Trpa1	UTSW	1	14881656	missense	probably benign	0.01
R2198:Trpa1	UTSW	1	14910746	missense	probably benign
R2221:Trpa1	UTSW	1	14903256	missense	probably null	0.12
R2223:Trpa1	UTSW	1	14903256	missense	probably null	0.12
R2307:Trpa1	UTSW	1	14912381	missense	probably benign	0.00
R2338:Trpa1	UTSW	1	14884245	missense	probably damaging	0.97
R2698:Trpa1	UTSW	1	14905998	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R2872:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R2873:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R2874:Trpa1	UTSW	1	14887620	missense	probably damaging	1.00
R3418:Trpa1	UTSW	1	14874381	missense	probably benign	0.01
R3419:Trpa1	UTSW	1	14874381	missense	probably benign	0.01
R3796:Trpa1	UTSW	1	14893264	missense	possibly damaging	0.74
R3799:Trpa1	UTSW	1	14893264	missense	possibly damaging	0.74
R4238:Trpa1	UTSW	1	14884116	missense	probably damaging	1.00
R4320:Trpa1	UTSW	1	14874452	missense	probably benign	0.00
R4591:Trpa1	UTSW	1	14882108	splice site	probably null
R4834:Trpa1	UTSW	1	14896523	missense	possibly damaging	0.72
R4991:Trpa1	UTSW	1	14910746	missense	probably benign	0.00
R4999:Trpa1	UTSW	1	14875861	missense	probably benign	0.05
R5038:Trpa1	UTSW	1	14910866	missense	probably damaging	1.00
R5055:Trpa1	UTSW	1	14875959	missense	probably damaging	1.00
R5158:Trpa1	UTSW	1	14881661	missense	probably benign	0.01
R5193:Trpa1	UTSW	1	14875917	missense	possibly damaging	0.92
R5558:Trpa1	UTSW	1	14898268	missense	probably damaging	1.00
R5578:Trpa1	UTSW	1	14887008	missense	probably damaging	1.00
R5680:Trpa1	UTSW	1	14875854	missense	probably benign	0.00
R5738:Trpa1	UTSW	1	14875950	missense	probably damaging	1.00
R5801:Trpa1	UTSW	1	14898078	missense	probably damaging	1.00
R5945:Trpa1	UTSW	1	14898135	missense	probably benign	0.03
R6092:Trpa1	UTSW	1	14889486	missense	probably damaging	1.00
R6776:Trpa1	UTSW	1	14912377	missense	probably benign
X0028:Trpa1	UTSW	1	14890420	missense	probably benign	0.16

Posted On

2012-12-06