Mutagenetix > Incidental Mutation

Incidental Mutation 'R3876:Timd2'

276855

Institutional Source

Beutler Lab

Gene Symbol

Timd2

Ensembl Gene

ENSMUSG00000040413

Gene Name

T cell immunoglobulin and mucin domain containing 2

Synonyms

TIM-2, Tim2

MMRRC Submission

041606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46559787-46597888 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 46561847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055102] [ENSMUST00000109225] [ENSMUST00000169584]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000055102

SMART Domains

Protein: ENSMUSP00000060891
Gene: ENSMUSG00000040413

Domain	Start	End	E-Value	Type
IG	22	127	7.08e-4	SMART
low complexity region	131	146	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
transmembrane domain	231	253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000109225

SMART Domains

Protein: ENSMUSP00000104848
Gene: ENSMUSG00000040413

Domain	Start	End	E-Value	Type
IG	22	127	7.08e-4	SMART
low complexity region	131	146	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
transmembrane domain	231	253	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000169584

SMART Domains

Protein: ENSMUSP00000131540
Gene: ENSMUSG00000040413

Domain	Start	End	E-Value	Type
IG	22	127	7.08e-4	SMART
low complexity region	131	146	N/A	INTRINSIC
low complexity region	148	167	N/A	INTRINSIC
transmembrane domain	231	253	N/A	INTRINSIC

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (53/53)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit an exacerbated inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	G	A	14: 54,828,857 (GRCm39)	R215*	probably null	Het
Brinp2	C	A	1: 158,074,416 (GRCm39)	L568F	probably damaging	Het
Brip1	T	C	11: 86,043,616 (GRCm39)	Y316C	probably damaging	Het
Cdk5rap2	ATGTG	ATG	4: 70,208,214 (GRCm39)		probably null	Het
Cfap69	G	T	5: 5,634,645 (GRCm39)		probably benign	Het
Chrnb4	T	C	9: 54,951,182 (GRCm39)	E27G	probably damaging	Het
Clec14a	A	G	12: 58,315,430 (GRCm39)	V64A	possibly damaging	Het
Crygs	A	G	16: 22,625,262 (GRCm39)	Y60H	probably damaging	Het
Dpp10	T	A	1: 123,281,216 (GRCm39)	Q611L	probably damaging	Het
Entpd1	T	C	19: 40,725,264 (GRCm39)	L450P	probably damaging	Het
Eogt	G	A	6: 97,097,151 (GRCm39)	S317L	probably damaging	Het
Exosc10	T	A	4: 148,657,376 (GRCm39)	S584T	probably benign	Het
Fam184a	C	T	10: 53,575,157 (GRCm39)	V151I	probably damaging	Het
Fbxo43	A	G	15: 36,152,258 (GRCm39)	V517A	probably damaging	Het
Flii	T	C	11: 60,610,698 (GRCm39)	T533A	possibly damaging	Het
Frmpd1	T	G	4: 45,284,093 (GRCm39)	H971Q	probably benign	Het
Gata3	A	T	2: 9,867,954 (GRCm39)	N333K	probably damaging	Het
Hectd1	A	G	12: 51,815,513 (GRCm39)	S1525P	probably damaging	Het
Ibtk	A	G	9: 85,600,479 (GRCm39)	I816T	probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt34	T	C	11: 99,931,791 (GRCm39)	T143A	probably benign	Het
Lipn	G	T	19: 34,046,828 (GRCm39)	M43I	probably benign	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Mios	G	A	6: 8,233,189 (GRCm39)	R779Q	probably damaging	Het
Mme	A	T	3: 63,269,480 (GRCm39)		probably benign	Het
Ncstn	A	G	1: 171,897,640 (GRCm39)	S418P	probably benign	Het
Oprk1	T	A	1: 5,672,884 (GRCm39)	C340*	probably null	Het
Or10d1c	T	A	9: 38,894,166 (GRCm39)	Y58F	probably damaging	Het
Or4c29	T	C	2: 88,739,952 (GRCm39)	T262A	possibly damaging	Het
Or4k39	T	C	2: 111,238,967 (GRCm39)	V69A	possibly damaging	Het
Or6c210	C	T	10: 129,496,143 (GRCm39)	P156L	probably benign	Het
Or6z7	G	A	7: 6,484,131 (GRCm39)	A8V	probably benign	Het
Pald1	T	A	10: 61,183,266 (GRCm39)	N323Y	probably damaging	Het
Pcdhac1	C	A	18: 37,224,945 (GRCm39)	A586E	probably damaging	Het
Pcnx2	C	T	8: 126,614,897 (GRCm39)	A185T	probably benign	Het
Pik3r1	G	A	13: 101,821,465 (GRCm39)	H430Y	probably benign	Het
Polr3b	G	A	10: 84,556,382 (GRCm39)		probably null	Het
Prl8a6	A	T	13: 27,617,015 (GRCm39)	L225*	probably null	Het
Psme4	T	C	11: 30,806,068 (GRCm39)	S89P	probably damaging	Het
Pygl	G	A	12: 70,248,113 (GRCm39)	T250I	probably damaging	Het
Rgs13	T	A	1: 144,016,528 (GRCm39)	K72*	probably null	Het
Ryr2	T	A	13: 11,603,045 (GRCm39)	I4514F	probably damaging	Het
Septin3	A	T	15: 82,170,002 (GRCm39)	D32V	probably damaging	Het
Sfrp2	C	T	3: 83,674,335 (GRCm39)	P163S	possibly damaging	Het
Spata31	A	G	13: 65,068,745 (GRCm39)	T298A	probably benign	Het
Stxbp2	T	C	8: 3,683,369 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,002,345 (GRCm39)	M282K	possibly damaging	Het
Tlr11	G	A	14: 50,600,611 (GRCm39)	V866I	probably benign	Het
Trappc10	T	C	10: 78,056,020 (GRCm39)		probably null	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	Het

Other mutations in Timd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Timd2	APN	11	46,567,170 (GRCm39)	missense	probably benign	0.15
IGL01289:Timd2	APN	11	46,570,499 (GRCm39)	missense	probably benign	0.00
IGL02066:Timd2	APN	11	46,569,050 (GRCm39)	missense	probably damaging	0.98
IGL02439:Timd2	APN	11	46,569,063 (GRCm39)	splice site	probably benign
R2217:Timd2	UTSW	11	46,577,844 (GRCm39)	missense	probably damaging	1.00
R2218:Timd2	UTSW	11	46,577,844 (GRCm39)	missense	probably damaging	1.00
R2240:Timd2	UTSW	11	46,569,043 (GRCm39)	missense	probably benign	0.01
R3621:Timd2	UTSW	11	46,569,040 (GRCm39)	missense	probably benign	0.00
R4173:Timd2	UTSW	11	46,561,787 (GRCm39)	missense	probably benign	0.00
R4793:Timd2	UTSW	11	46,578,008 (GRCm39)	missense	probably damaging	1.00
R4799:Timd2	UTSW	11	46,568,094 (GRCm39)	nonsense	probably null
R4963:Timd2	UTSW	11	46,573,617 (GRCm39)	missense	possibly damaging	0.66
R5314:Timd2	UTSW	11	46,568,087 (GRCm39)	missense	probably benign	0.09
R5798:Timd2	UTSW	11	46,568,064 (GRCm39)	missense	probably benign	0.06
R6074:Timd2	UTSW	11	46,577,999 (GRCm39)	missense	possibly damaging	0.88
R6090:Timd2	UTSW	11	46,578,063 (GRCm39)	missense	probably benign	0.11
R6694:Timd2	UTSW	11	46,561,779 (GRCm39)	nonsense	probably null
R7817:Timd2	UTSW	11	46,561,781 (GRCm39)	missense	probably benign	0.00
R8379:Timd2	UTSW	11	46,568,027 (GRCm39)	splice site	probably null
R9321:Timd2	UTSW	11	46,577,916 (GRCm39)	missense	probably benign	0.00
R9483:Timd2	UTSW	11	46,577,889 (GRCm39)	missense	probably damaging	1.00
R9763:Timd2	UTSW	11	46,573,540 (GRCm39)	missense	probably benign	0.01
Z1177:Timd2	UTSW	11	46,570,506 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CGCTGTGATATCACTGACAGTC -3'
(R):5'- ACCTGCTTTGATGCTAGTTATGTC -3'

Sequencing Primer
(F):5'- CAGTCTCTTTAATCTCAGGCAGAAGG -3'
(R):5'- GTAGAAGATTTGAATATGAGCTGCTC -3'

Posted On

2015-04-06