Mutagenetix > Incidental Mutation

Incidental Mutation 'R6074:Timd2'

482652

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

044235-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R6074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46559787-46597888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46577999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 44 (G44D)

Ref Sequence

ENSEMBL: ENSMUSP00000131540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055102] [ENSMUST00000109225] [ENSMUST00000125008] [ENSMUST00000169584]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055102
AA Change: G44D

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060891
Gene: ENSMUSG00000040413
AA Change: G44D

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

possibly damaging
Transcript: ENSMUST00000109225
AA Change: G44D

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104848
Gene: ENSMUSG00000040413
AA Change: G44D

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 benign
Transcript: ENSMUST00000125008
AA Change: G44D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123042
Gene: ENSMUSG00000040413
AA Change: G44D

Domain	Start	End	E-Value	Type
PDB:2OR7\|B	19	92	6e-50	PDB
Blast:IG	22	92	4e-47	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169584
AA Change: G44D

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131540
Gene: ENSMUSG00000040413
AA Change: G44D

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

97% (61/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo1	T	A	3: 108,099,009 (GRCm39)	C189*	probably null	Het
Auts2	G	T	5: 131,505,828 (GRCm39)		probably benign	Het
Cadps2	C	A	6: 23,626,670 (GRCm39)	W177L	probably damaging	Het
Camk2b	G	T	11: 5,939,635 (GRCm39)	P223Q	probably damaging	Het
Ccdc74a	C	A	16: 17,464,591 (GRCm39)	S9*	probably null	Het
Ccnt1	A	C	15: 98,441,205 (GRCm39)	Y688D	probably damaging	Het
Cdhr1	T	C	14: 36,801,600 (GRCm39)	N781S	probably benign	Het
Ceacam3	C	T	7: 16,885,484 (GRCm39)	T29I	probably benign	Het
Cep170b	T	C	12: 112,710,589 (GRCm39)	S1473P	probably damaging	Het
Col19a1	T	A	1: 24,565,564 (GRCm39)	T256S	unknown	Het
Eif2d	T	A	1: 131,094,079 (GRCm39)	D423E	probably damaging	Het
Fam13a	A	G	6: 58,966,723 (GRCm39)		probably null	Het
Gaa	G	A	11: 119,175,012 (GRCm39)	R871H	probably benign	Het
Galnt12	T	A	4: 47,112,405 (GRCm39)	V37D	probably damaging	Het
Glp2r	A	G	11: 67,637,640 (GRCm39)	S13P	unknown	Het
Gnptab	C	T	10: 88,268,940 (GRCm39)	L548F	probably damaging	Het
Heg1	C	T	16: 33,547,573 (GRCm39)	P787S	possibly damaging	Het
Hivep2	T	A	10: 14,007,485 (GRCm39)	M1361K	probably benign	Het
Hivep3	T	C	4: 119,954,891 (GRCm39)	I1069T	possibly damaging	Het
Hspg2	A	G	4: 137,268,046 (GRCm39)	D2121G	probably benign	Het
Htatip2	A	G	7: 49,422,322 (GRCm39)		probably null	Het
Ighv1-75	T	C	12: 115,798,007 (GRCm39)	S4G	probably benign	Het
Ip6k1	A	G	9: 107,901,308 (GRCm39)		probably benign	Het
Kcna6	A	G	6: 126,716,242 (GRCm39)	S216P	probably benign	Het
Kif21a	T	A	15: 90,865,095 (GRCm39)	T526S	probably benign	Het
Kng2	C	T	16: 22,819,346 (GRCm39)	G230D	probably benign	Het
Lgi2	A	T	5: 52,703,984 (GRCm39)	F216I	probably benign	Het
Lratd1	G	A	12: 14,200,512 (GRCm39)	H72Y	probably benign	Het
Lss	T	A	10: 76,379,693 (GRCm39)	N383K	probably damaging	Het
Mical1	T	C	10: 41,362,061 (GRCm39)	M929T	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Nat8f4	A	G	6: 85,878,169 (GRCm39)	V118A	probably damaging	Het
Or10j5	T	A	1: 172,784,945 (GRCm39)	N194K	probably benign	Het
Or4p23	A	C	2: 88,576,566 (GRCm39)	L222R	probably damaging	Het
Or6b2	G	A	1: 92,407,497 (GRCm39)	T282M	probably benign	Het
Osbpl11	T	A	16: 33,030,335 (GRCm39)	S188T	probably benign	Het
Pea15a	C	T	1: 172,026,752 (GRCm39)	R85H	possibly damaging	Het
Ppp1r13b	A	G	12: 111,798,836 (GRCm39)	I919T	probably damaging	Het
Rasgrf1	A	G	9: 89,835,968 (GRCm39)	D232G	probably benign	Het
Rp1	A	G	1: 4,415,602 (GRCm39)	S1837P	probably benign	Het
Samd5	T	A	10: 9,550,334 (GRCm39)	Y125F	possibly damaging	Het
Skint5	T	C	4: 113,662,397 (GRCm39)	T597A	unknown	Het
Slc25a12	A	G	2: 71,106,798 (GRCm39)	F605L	probably benign	Het
Slc39a12	C	T	2: 14,412,290 (GRCm39)	Q321*	probably null	Het
Slc6a19	T	C	13: 73,837,882 (GRCm39)	S206G	probably benign	Het
Tacc2	T	A	7: 130,227,165 (GRCm39)	H1283Q	possibly damaging	Het
Thumpd3	A	G	6: 113,036,971 (GRCm39)	E290G	possibly damaging	Het
Tmem74	A	G	15: 43,730,134 (GRCm39)	V303A	possibly damaging	Het
Tpo	A	G	12: 30,128,186 (GRCm39)	V785A	probably benign	Het
Tpra1	T	A	6: 88,888,919 (GRCm39)	I367N	possibly damaging	Het
Txnrd2	T	C	16: 18,256,297 (GRCm39)	I95T	probably damaging	Het
Usp32	A	G	11: 84,885,399 (GRCm39)	V1216A	probably benign	Het
Usp54	C	A	14: 20,602,167 (GRCm39)	M1394I	probably benign	Het
Vmn2r13	A	G	5: 109,322,167 (GRCm39)	F177L	probably benign	Het
Vmn2r82	T	A	10: 79,232,377 (GRCm39)	V792E	probably damaging	Het
Wdfy4	C	T	14: 32,805,596 (GRCm39)		probably null	Het
Wnk2	A	T	13: 49,204,875 (GRCm39)	C458S	probably damaging	Het
Xkr6	T	G	14: 63,844,519 (GRCm39)	F181V	possibly damaging	Het
Zfp212	T	A	6: 47,903,986 (GRCm39)	C149*	probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp661	A	G	2: 127,419,793 (GRCm39)	S116P	probably benign	Het
Zfp770	A	G	2: 114,026,870 (GRCm39)	Y400H	possibly damaging	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
R3876:Timd2	UTSW	11	46,561,847 (GRCm39)	critical splice acceptor site	probably null
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
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'- TCTCCACTACACAGCAATAGGG -3'
(R):5'- AAGTTAAGTTCCGCTTGAGTCTC -3'

Posted On

2017-07-14