Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01302:Timp4'

73292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Timp4

Ensembl Gene

ENSMUSG00000030317

Gene Name

tissue inhibitor of metalloproteinase 4

Synonyms

TIMP-4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01302

Quality Score

Status

Chromosome

Chromosomal Location

115221405-115229166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115223269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 218 (Y218C)

Ref Sequence

ENSEMBL: ENSMUSP00000032462 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000032462] [ENSMUST00000166681] [ENSMUST00000169345] [ENSMUST00000203450] [ENSMUST00000205131]

AlphaFold

Q9JHB3

Predicted Effect

probably benign
Transcript: ENSMUST00000009538

SMART Domains

Protein: ENSMUSP00000009538
Gene: ENSMUSG00000009394

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	2	33	3.4e-24	PFAM
Pfam:Synapsin	112	213	6.4e-48	PFAM
Pfam:Synapsin_C	215	417	8.2e-140	PFAM
low complexity region	450	470	N/A	INTRINSIC
low complexity region	473	507	N/A	INTRINSIC
low complexity region	524	540	N/A	INTRINSIC
low complexity region	551	562	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032462
AA Change: Y218C

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317
AA Change: Y218C

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
NTR	30	207	1.85e-122	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166681

Predicted Effect

probably benign
Transcript: ENSMUST00000169345

SMART Domains

Protein: ENSMUSP00000133121
Gene: ENSMUSG00000009394

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	2	33	1.3e-24	PFAM
Pfam:Synapsin	109	213	1.6e-62	PFAM
Pfam:Synapsin_C	215	417	4.4e-133	PFAM
Pfam:RimK	247	403	4.5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203450

SMART Domains

Protein: ENSMUSP00000144921
Gene: ENSMUSG00000009394

Domain	Start	End	E-Value	Type
Pfam:Synapsin_N	2	33	2.7e-24	PFAM
Pfam:Synapsin	112	213	4.6e-48	PFAM
Pfam:Synapsin_C	215	417	5.3e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203707

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204617

Predicted Effect

probably benign
Transcript: ENSMUST00000205131

SMART Domains

Protein: ENSMUSP00000144785
Gene: ENSMUSG00000030317

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
NTR	30	175	2.6e-76	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show increased lethality associated with left ventricle rupture following left anterior descending coronary artery ligation. Aged mice exhibit reduced myocardial performance index, decreased coronary flow rate, and increased left ventricle thickness and weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,470 (GRCm39)		probably benign	Het
Abcb5	T	A	12: 118,881,935 (GRCm39)	D598V	probably damaging	Het
Adss1	T	C	12: 112,601,170 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,020,711 (GRCm39)	S1141T	probably benign	Het
Avil	T	C	10: 126,852,903 (GRCm39)		probably null	Het
Avl9	C	A	6: 56,702,075 (GRCm39)	H77N	probably damaging	Het
Cacna1e	A	G	1: 154,319,653 (GRCm39)	V1349A	probably damaging	Het
Cdc23	A	C	18: 34,767,697 (GRCm39)	S483A	probably benign	Het
Cep192	C	T	18: 67,991,974 (GRCm39)	P1951S	probably benign	Het
Cp	A	G	3: 20,020,531 (GRCm39)	T175A	probably damaging	Het
Dubr	A	C	16: 50,552,998 (GRCm39)		noncoding transcript	Het
Eif4g2	G	T	7: 110,673,920 (GRCm39)	Q695K	possibly damaging	Het
Endod1	A	T	9: 14,268,535 (GRCm39)	S317T	possibly damaging	Het
Ep400	T	C	5: 110,889,914 (GRCm39)	T450A	probably benign	Het
Erc1	A	C	6: 119,699,264 (GRCm39)	V790G	probably damaging	Het
Fam222a	T	A	5: 114,732,514 (GRCm39)	L23Q	possibly damaging	Het
Fancf	A	G	7: 51,511,035 (GRCm39)	V323A	probably benign	Het
Grik2	T	A	10: 49,120,426 (GRCm39)	Q621L	probably damaging	Het
Gsk3b	G	T	16: 38,040,380 (GRCm39)	R319L	probably benign	Het
Ikzf1	A	G	11: 11,718,923 (GRCm39)	Y297C	probably damaging	Het
Katnal2	T	C	18: 77,134,863 (GRCm39)		probably benign	Het
Lrba	G	T	3: 86,202,707 (GRCm39)	C289F	probably damaging	Het
Mos	T	C	4: 3,871,815 (GRCm39)		probably benign	Het
Mycn	T	C	12: 12,987,587 (GRCm39)	D270G	possibly damaging	Het
Or52e15	A	T	7: 104,645,928 (GRCm39)	M61K	probably damaging	Het
Or6c207	T	A	10: 129,104,392 (GRCm39)	I267F	probably benign	Het
Pclo	A	G	5: 14,726,013 (GRCm39)		probably benign	Het
Pgm1	A	G	4: 99,786,803 (GRCm39)	D14G	probably damaging	Het
Pramel7	T	A	2: 87,321,717 (GRCm39)	D106V	possibly damaging	Het
Prdm9	G	T	17: 15,773,608 (GRCm39)	H263N	probably benign	Het
Psd4	T	A	2: 24,286,799 (GRCm39)		probably null	Het
Ptprc	G	A	1: 138,027,369 (GRCm39)	T493I	possibly damaging	Het
Rbbp8	T	A	18: 11,855,036 (GRCm39)	S420R	probably benign	Het
Sap30bp	A	G	11: 115,853,373 (GRCm39)	T219A	probably damaging	Het
Shld2	C	T	14: 33,981,684 (GRCm39)	V485I	probably benign	Het
Slc2a7	T	A	4: 150,242,021 (GRCm39)	L200Q	probably damaging	Het
Slc38a6	T	A	12: 73,335,299 (GRCm39)		probably null	Het
Tatdn2	T	A	6: 113,680,985 (GRCm39)		probably benign	Het
Thrb	A	G	14: 18,011,056 (GRCm38)		probably benign	Het
Tlr5	A	G	1: 182,802,313 (GRCm39)	D525G	probably benign	Het
Usp32	G	T	11: 84,879,308 (GRCm39)	T1467N	probably benign	Het
Vmn2r78	A	G	7: 86,564,569 (GRCm39)	I5V	unknown	Het
Zbtb43	T	C	2: 33,344,103 (GRCm39)	H374R	probably benign	Het
Zfhx4	C	A	3: 5,308,628 (GRCm39)	T618K	probably damaging	Het

Other mutations in Timp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02267:Timp4	APN	6	115,224,240 (GRCm39)	missense	possibly damaging	0.70
IGL02368:Timp4	APN	6	115,223,360 (GRCm39)	splice site	probably null
IGL02501:Timp4	APN	6	115,223,444 (GRCm39)	missense	probably damaging	1.00
IGL02636:Timp4	APN	6	115,226,785 (GRCm39)	splice site	probably null
R0534:Timp4	UTSW	6	115,226,802 (GRCm39)	missense	probably damaging	1.00
R0671:Timp4	UTSW	6	115,226,814 (GRCm39)	missense	probably damaging	1.00
R1698:Timp4	UTSW	6	115,227,364 (GRCm39)	splice site	probably null
R5994:Timp4	UTSW	6	115,224,315 (GRCm39)	missense	probably damaging	1.00
R6433:Timp4	UTSW	6	115,224,181 (GRCm39)	missense	probably damaging	1.00
R7537:Timp4	UTSW	6	115,227,421 (GRCm39)	missense	probably damaging	0.96
R7869:Timp4	UTSW	6	115,227,355 (GRCm39)	missense	probably benign	0.09
R9207:Timp4	UTSW	6	115,224,270 (GRCm39)	missense	probably damaging	1.00
Z1177:Timp4	UTSW	6	115,228,738 (GRCm39)	start codon destroyed	probably null	0.89

Posted On

2013-10-07