Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02247:Timd4'

286250

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 #

IGL02247

Quality Score

Status

Chromosome

Chromosomal Location

46701627-46735159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46706558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 120 (F120S)

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

probably damaging
Transcript: ENSMUST00000068877
AA Change: F120S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069456
Gene: ENSMUSG00000055546
AA Change: F120S

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,974,905 (GRCm39)	R177G	probably damaging	Het
Ap3b1	T	C	13: 94,531,303 (GRCm39)		probably null	Het
Ascc3	A	C	10: 50,526,686 (GRCm39)	K595T	probably damaging	Het
Cnpy4	A	G	5: 138,191,125 (GRCm39)	T234A	probably benign	Het
Col13a1	T	C	10: 61,797,124 (GRCm39)	Y101C	probably damaging	Het
Crybg3	A	G	16: 59,323,513 (GRCm39)	I2809T	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dgkz	T	C	2: 91,767,805 (GRCm39)	S824G	probably benign	Het
Dsg1c	T	A	18: 20,397,373 (GRCm39)	I27N	probably damaging	Het
Efhb	C	T	17: 53,708,652 (GRCm39)	V673I	probably benign	Het
Egr1	T	C	18: 34,995,916 (GRCm39)	Y233H	possibly damaging	Het
Fam184a	T	C	10: 53,551,256 (GRCm39)	E237G	probably damaging	Het
Galt	A	G	4: 41,755,623 (GRCm39)		probably benign	Het
Gm4795	T	C	10: 44,883,211 (GRCm39)		noncoding transcript	Het
Gm6563	G	A	19: 23,653,392 (GRCm39)	E61K	possibly damaging	Het
Igkv1-133	G	A	6: 67,702,590 (GRCm39)	V103M	probably damaging	Het
Iqcb1	T	A	16: 36,660,258 (GRCm39)	H140Q	probably benign	Het
Itpk1	G	T	12: 102,589,668 (GRCm39)	P74Q	probably damaging	Het
Itpr3	T	A	17: 27,317,153 (GRCm39)	W803R	probably damaging	Het
Lgr4	A	T	2: 109,832,846 (GRCm39)	D312V	probably benign	Het
Lgr4	C	T	2: 109,838,420 (GRCm39)		probably benign	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mllt6	C	A	11: 97,561,158 (GRCm39)	A282E	probably benign	Het
Mtif2	T	C	11: 29,490,642 (GRCm39)	S449P	possibly damaging	Het
Nrg3	T	C	14: 38,093,269 (GRCm39)	I533M	probably damaging	Het
Nynrin	C	T	14: 56,109,167 (GRCm39)	Q1425*	probably null	Het
Or12e13	A	G	2: 87,663,873 (GRCm39)	I163M	probably damaging	Het
Or1e1f	A	T	11: 73,855,688 (GRCm39)	M85L	probably benign	Het
Or4n4b	T	A	14: 50,536,571 (GRCm39)	N65I	probably damaging	Het
Or4p22	C	T	2: 88,317,771 (GRCm39)	H232Y	probably benign	Het
Or56a3	T	A	7: 104,735,530 (GRCm39)	Y202*	probably null	Het
Or5b3	T	A	19: 13,388,831 (GRCm39)	S299R	probably benign	Het
Or7e175	G	A	9: 20,048,516 (GRCm39)	V35I	probably benign	Het
Plcb4	C	T	2: 135,836,245 (GRCm39)	T20I	possibly damaging	Het
Ppp1r12b	G	T	1: 134,763,721 (GRCm39)	T771K	probably benign	Het
Prss22	T	C	17: 24,215,363 (GRCm39)	T138A	probably benign	Het
Ros1	A	T	10: 52,005,677 (GRCm39)	S907T	probably damaging	Het
Rtel1	T	A	2: 180,993,134 (GRCm39)	Y521*	probably null	Het
Sacs	T	C	14: 61,429,984 (GRCm39)	F678S	probably damaging	Het
Smtnl1	A	T	2: 84,647,372 (GRCm39)		probably benign	Het
Sumf2	T	C	5: 129,888,986 (GRCm39)	V258A	probably damaging	Het
Tas1r2	A	T	4: 139,396,827 (GRCm39)	Y722F	probably damaging	Het
Tecpr1	A	G	5: 144,143,372 (GRCm39)	F668L	possibly damaging	Het
Tnnt3	T	C	7: 142,062,062 (GRCm39)		probably benign	Het
Trp53bp1	G	A	2: 121,067,070 (GRCm39)	S552F	probably damaging	Het
Txlnb	G	A	10: 17,706,090 (GRCm39)	R333Q	possibly damaging	Het
Txlnb	A	G	10: 17,717,276 (GRCm39)		probably benign	Het
Uroc1	A	G	6: 90,324,910 (GRCm39)	E461G	probably benign	Het
Vps45	G	A	3: 95,950,236 (GRCm39)	T231I	probably damaging	Het
Zfp648	T	A	1: 154,079,923 (GRCm39)	S27R	probably benign	Het

Other mutations in Timd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02140:Timd4	APN	11	46,710,841 (GRCm39)	missense	possibly damaging	0.61
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