Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02140:Timd4'

281489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Timd4

Ensembl Gene

ENSMUSG00000055546

Gene Name

T cell immunoglobulin and mucin domain containing 4

Synonyms

Tim4, B430010N18Rik, TIM-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02140

Quality Score

Status

Chromosome

Chromosomal Location

46701627-46735159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46710841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 248 (S248T)

Ref Sequence

ENSEMBL: ENSMUSP00000069456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068877]

AlphaFold

Q6U7R4

PDB Structure

Tim-4 [X-RAY DIFFRACTION]
Tim-4 in complex with sodium potassium tartrate [X-RAY DIFFRACTION]
Tim-4 in complex with phosphatidylserine [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068877
AA Change: S248T

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069456
Gene: ENSMUSG00000055546
AA Change: S248T

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
IG	25	132	3.59e-5	SMART
low complexity region	135	182	N/A	INTRINSIC
low complexity region	248	271	N/A	INTRINSIC
transmembrane domain	279	301	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage phagocytosis, altered macrophage physiology, and increased peritoneal lymphoid and meyloid cell numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,195,034 (GRCm39)	V144I	probably benign	Het
B3gat1	A	G	9: 26,669,043 (GRCm39)	K325E	possibly damaging	Het
Cd36	T	A	5: 18,033,766 (GRCm39)		probably benign	Het
Ces3a	A	G	8: 105,782,263 (GRCm39)	E325G	probably benign	Het
Col1a2	G	A	6: 4,515,639 (GRCm39)	G136D	unknown	Het
Cyp3a25	T	G	5: 145,946,273 (GRCm39)		probably benign	Het
Cyp3a59	T	C	5: 146,039,690 (GRCm39)	L321P	probably damaging	Het
Dag1	A	G	9: 108,095,391 (GRCm39)	S34P	probably damaging	Het
Defa27	A	T	8: 21,805,674 (GRCm39)	K13*	probably null	Het
Disp2	T	C	2: 118,621,350 (GRCm39)	F694S	probably benign	Het
Dnah12	G	T	14: 26,437,732 (GRCm39)	A454S	probably benign	Het
Dync2h1	A	T	9: 7,147,791 (GRCm39)	D946E	probably benign	Het
Fcgbp	A	G	7: 27,791,379 (GRCm39)	E880G	probably damaging	Het
Fgfr4	T	C	13: 55,308,992 (GRCm39)	V371A	probably benign	Het
Frem3	G	T	8: 81,340,736 (GRCm39)	V1010F	possibly damaging	Het
Gm13283	G	A	4: 88,679,272 (GRCm39)	V88I	probably benign	Het
Gm5134	G	A	10: 75,821,945 (GRCm39)	V260I	probably benign	Het
Grhl2	A	G	15: 37,270,830 (GRCm39)		probably benign	Het
Hectd1	A	T	12: 51,820,920 (GRCm39)	W1090R	probably damaging	Het
Hydin	G	A	8: 111,293,570 (GRCm39)	V3506I	probably benign	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Iglv3	T	A	16: 19,060,160 (GRCm39)	Q56L	probably damaging	Het
Impg2	T	A	16: 56,079,831 (GRCm39)	M436K	probably benign	Het
Kcnma1	T	A	14: 23,359,113 (GRCm39)	K1110N	probably damaging	Het
Marf1	T	C	16: 13,959,776 (GRCm39)	E694G	probably damaging	Het
Nup37	A	C	10: 87,994,791 (GRCm39)	K118T	probably benign	Het
Or10al7	A	G	17: 38,366,481 (GRCm39)	M1T	probably null	Het
Or4a73	T	C	2: 89,420,586 (GRCm39)	E291G	probably damaging	Het
P3h1	A	G	4: 119,095,062 (GRCm39)	D273G	probably damaging	Het
Pcsk9	T	C	4: 106,311,843 (GRCm39)	D178G	probably benign	Het
Phyhipl	T	C	10: 70,406,660 (GRCm39)	K53R	probably damaging	Het
Pkp3	T	G	7: 140,669,249 (GRCm39)	L697R	probably damaging	Het
Rab11fip3	A	G	17: 26,286,866 (GRCm39)	V429A	probably benign	Het
Rgl2	A	G	17: 34,152,098 (GRCm39)	N295S	probably damaging	Het
Spag5	A	T	11: 78,206,459 (GRCm39)	D817V	possibly damaging	Het
Tas2r117	C	A	6: 132,780,558 (GRCm39)	T232K	probably benign	Het
Thumpd1	A	G	7: 119,316,232 (GRCm39)	V239A	possibly damaging	Het
Tmem207	A	T	16: 26,335,490 (GRCm39)	N82K	probably benign	Het
Ttn	T	A	2: 76,538,557 (GRCm39)	T34714S	possibly damaging	Het
Vmn1r194	G	A	13: 22,428,706 (GRCm39)	V108I	probably benign	Het
Vmn2r24	T	A	6: 123,757,631 (GRCm39)	S166R	probably damaging	Het
Vmn2r32	A	G	7: 7,479,696 (GRCm39)	F159S	probably damaging	Het
Wdr72	A	T	9: 74,117,505 (GRCm39)	Q739L	probably benign	Het

Other mutations in Timd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02247:Timd4	APN	11	46,706,558 (GRCm39)	missense	probably damaging	1.00
IGL02803:Timd4	APN	11	46,706,521 (GRCm39)	missense	probably damaging	1.00
IGL02991:Timd4	APN	11	46,732,974 (GRCm39)	splice site	probably benign
R0318:Timd4	UTSW	11	46,727,898 (GRCm39)	missense	probably benign	0.00
R0427:Timd4	UTSW	11	46,710,084 (GRCm39)	missense	probably benign	0.00
R1175:Timd4	UTSW	11	46,708,498 (GRCm39)	missense	probably damaging	1.00
R1185:Timd4	UTSW	11	46,708,475 (GRCm39)	missense	probably damaging	0.99
R1185:Timd4	UTSW	11	46,708,475 (GRCm39)	missense	probably damaging	0.99
R1185:Timd4	UTSW	11	46,708,475 (GRCm39)	missense	probably damaging	0.99
R1635:Timd4	UTSW	11	46,732,989 (GRCm39)	missense	possibly damaging	0.92
R2011:Timd4	UTSW	11	46,710,857 (GRCm39)	missense	possibly damaging	0.79
R2012:Timd4	UTSW	11	46,710,857 (GRCm39)	missense	possibly damaging	0.79
R4994:Timd4	UTSW	11	46,706,344 (GRCm39)	missense	probably damaging	0.99
R5511:Timd4	UTSW	11	46,710,807 (GRCm39)	splice site	probably null
R5739:Timd4	UTSW	11	46,708,573 (GRCm39)	missense	probably benign	0.10
R5991:Timd4	UTSW	11	46,734,030 (GRCm39)	makesense	probably null
R6207:Timd4	UTSW	11	46,706,353 (GRCm39)	missense	probably damaging	0.98
R6863:Timd4	UTSW	11	46,706,270 (GRCm39)	nonsense	probably null
R7230:Timd4	UTSW	11	46,701,691 (GRCm39)	missense	probably benign	0.01
R7254:Timd4	UTSW	11	46,734,016 (GRCm39)	missense	probably benign	0.04
R7466:Timd4	UTSW	11	46,708,585 (GRCm39)	missense	probably benign	0.01
R7750:Timd4	UTSW	11	46,706,354 (GRCm39)	missense	probably damaging	1.00
R8777:Timd4	UTSW	11	46,706,309 (GRCm39)	missense	possibly damaging	0.49
R8777-TAIL:Timd4	UTSW	11	46,706,309 (GRCm39)	missense	possibly damaging	0.49

Posted On

2015-04-16