Mutagenetix > Incidental Mutation

Incidental Mutation 'R5314:Timd2'

405756

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

042897-MU

Accession Numbers

Essential gene?

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

Stock #

R5314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46559787-46597888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46568087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 236 (I236V)

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 benign
Transcript: ENSMUST00000055102
AA Change: I236V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000060891
Gene: ENSMUSG00000040413
AA Change: I236V

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: ENSMUST00000109225
AA Change: I236V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104848
Gene: ENSMUSG00000040413
AA Change: I236V

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: ENSMUST00000169584
AA Change: I236V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131540
Gene: ENSMUSG00000040413
AA Change: I236V

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	T	C	3: 121,473,172 (GRCm39)	F109S	unknown	Het
Ankhd1	A	T	18: 36,694,111 (GRCm39)		probably null	Het
Atp8a1	C	T	5: 67,863,248 (GRCm39)		probably null	Het
Ccdc136	G	T	6: 29,417,497 (GRCm39)	V707F	probably benign	Het
Ccdc157	A	T	11: 4,100,078 (GRCm39)	C91*	probably null	Het
Ceacam3	T	A	7: 16,892,296 (GRCm39)	N346K	possibly damaging	Het
Cfap251	A	G	5: 123,460,626 (GRCm39)	D1196G	probably benign	Het
Chd4	A	G	6: 125,077,551 (GRCm39)	E74G	probably damaging	Het
Cntn1	A	G	15: 92,192,892 (GRCm39)	M665V	probably benign	Het
Crtc2	C	T	3: 90,168,348 (GRCm39)	Q364*	probably null	Het
Csf1r	T	A	18: 61,262,796 (GRCm39)	I857N	probably damaging	Het
Dner	C	T	1: 84,558,460 (GRCm39)	G168D	probably damaging	Het
Edar	T	C	10: 58,443,182 (GRCm39)	T315A	probably benign	Het
Egflam	A	G	15: 7,333,493 (GRCm39)	V153A	probably damaging	Het
Enoph1	T	C	5: 100,211,682 (GRCm39)	I193T	possibly damaging	Het
Epc1	A	G	18: 6,462,969 (GRCm39)	I9T	probably damaging	Het
Fbxw18	T	A	9: 109,522,246 (GRCm39)	I208F	possibly damaging	Het
Gm4841	A	G	18: 60,403,364 (GRCm39)	V243A	probably benign	Het
Herc2	T	C	7: 55,869,534 (GRCm39)	V4297A	probably damaging	Het
Itsn2	C	T	12: 4,677,960 (GRCm39)	P106S	probably benign	Het
Kcnu1	A	G	8: 26,352,486 (GRCm39)	T218A	probably damaging	Het
Kif1a	A	G	1: 92,946,220 (GRCm39)	S1677P	probably damaging	Het
Krt14	A	T	11: 100,095,526 (GRCm39)	M293K	probably damaging	Het
Meis3	T	A	7: 15,917,989 (GRCm39)	V307E	probably damaging	Het
Nadk2	A	C	15: 9,108,401 (GRCm39)	I417L	probably benign	Het
Nav2	AAGCAGCAGCAGCAGCAGCAGCAGCA	AAGCAGCAGCAGCAGCAGCAGCA	7: 49,058,440 (GRCm39)		probably benign	Het
Neb	A	T	2: 52,171,515 (GRCm39)	N1659K	probably benign	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Or10w1	T	C	19: 13,632,630 (GRCm39)	V274A	probably benign	Het
Or8g32	T	C	9: 39,305,785 (GRCm39)	S233P	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pde3b	A	T	7: 114,093,772 (GRCm39)	N339Y	probably damaging	Het
Pde8b	A	G	13: 95,223,361 (GRCm39)	F298L	possibly damaging	Het
Phtf1	G	A	3: 103,906,603 (GRCm39)	R606H	probably damaging	Het
Psd4	A	G	2: 24,290,528 (GRCm39)	D535G	possibly damaging	Het
Rad51ap1	A	G	6: 126,905,121 (GRCm39)	V130A	probably damaging	Het
Rbm11	T	C	16: 75,393,474 (GRCm39)	F57L	probably damaging	Het
Rprd2	A	G	3: 95,671,401 (GRCm39)	V1334A	possibly damaging	Het
Satb2	T	C	1: 56,870,686 (GRCm39)	E433G	probably damaging	Het
Sema6b	G	A	17: 56,435,413 (GRCm39)	R277*	probably null	Het
Sepsecs	A	T	5: 52,805,015 (GRCm39)	S349T	probably benign	Het
Slc35b2	T	C	17: 45,877,424 (GRCm39)	Y184H	probably damaging	Het
Slc7a2	T	C	8: 41,368,067 (GRCm39)		probably null	Het
Smc1b	T	A	15: 84,955,066 (GRCm39)	Y1062F	probably benign	Het
Snrnp70	G	A	7: 45,026,476 (GRCm39)	R298*	probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Taar8c	A	T	10: 23,977,246 (GRCm39)	C189S	probably damaging	Het
Tas1r2	T	A	4: 139,382,672 (GRCm39)	D103E	probably damaging	Het
Tmem87a	A	G	2: 120,208,407 (GRCm39)	V316A	probably damaging	Het
Treml2	T	A	17: 48,607,601 (GRCm39)	L16Q	probably damaging	Het
Zcchc14	G	A	8: 122,335,337 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,013,178 (GRCm39)	Y567H	probably damaging	Het
Zfp551	G	A	7: 12,150,087 (GRCm39)	R441*	probably null	Het
Zfp930	A	G	8: 69,679,373 (GRCm39)	I59M	probably benign	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
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'- GGAAGTCATGTGATCTCCAAACC -3'
(R):5'- AGCTCCTTGGATCTTGCTGC -3'

Sequencing Primer
(F):5'- ATGTGATCTCCAAACCCCTATGG -3'
(R):5'- TGCTGCAAATTCTAGACTAGCC -3'

Posted On

2016-07-22