Mutagenetix > Incidental Mutation

Incidental Mutation 'R9207:Timp4'

698579

Institutional Source

Beutler Lab

Gene Symbol

Timp4

Ensembl Gene

ENSMUSG00000030317

Gene Name

tissue inhibitor of metalloproteinase 4

Synonyms

TIMP-4

MMRRC Submission

068981-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115221405-115229166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115224270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 133 (Y133C)

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

probably damaging
Transcript: ENSMUST00000032462
AA Change: Y133C

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

SMART Domains

Protein: ENSMUSP00000032462
Gene: ENSMUSG00000030317
AA Change: Y133C

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

probably damaging
Transcript: ENSMUST00000205131
AA Change: Y133C

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

SMART Domains

Protein: ENSMUSP00000144785
Gene: ENSMUSG00000030317
AA Change: Y133C

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

Meta Mutation Damage Score

0.6268

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,979,657 (GRCm39)	I173S	probably damaging	Het
Actrt2	T	A	4: 154,751,920 (GRCm39)	H72L	probably benign	Het
Adgrf1	A	G	17: 43,621,164 (GRCm39)	D467G	probably benign	Het
Axdnd1	A	G	1: 156,215,616 (GRCm39)	L226P		Het
Begain	T	C	12: 108,999,250 (GRCm39)	D507G	probably damaging	Het
Bsdc1	A	G	4: 129,362,830 (GRCm39)	N134S	probably benign	Het
Ccdc39	C	A	3: 33,886,706 (GRCm39)	E301*	probably null	Het
Cdh23	A	G	10: 60,243,210 (GRCm39)	V1055A	probably damaging	Het
Efcab8	A	G	2: 153,656,339 (GRCm39)	D591G	unknown	Het
Fibcd1	G	A	2: 31,706,455 (GRCm39)	R459C	probably damaging	Het
Frem3	T	G	8: 81,340,071 (GRCm39)	V788G	possibly damaging	Het
Ftcd	A	T	10: 76,422,973 (GRCm39)	I423L	probably benign	Het
Gad1	G	A	2: 70,409,546 (GRCm39)		probably null	Het
Gm8229	T	C	14: 44,606,238 (GRCm39)	L156P		Het
Grm7	T	C	6: 111,335,874 (GRCm39)	Y762H	probably damaging	Het
Hectd4	T	A	5: 121,433,496 (GRCm39)	V937D	possibly damaging	Het
Ifnz	T	C	4: 88,701,525 (GRCm39)	V168A	probably benign	Het
Irx4	C	G	13: 73,416,649 (GRCm39)	C348W	probably damaging	Het
Itgb4	G	T	11: 115,897,923 (GRCm39)	G1603V	probably damaging	Het
Krt32	A	G	11: 99,977,580 (GRCm39)	V162A	possibly damaging	Het
Mpped2	A	G	2: 106,697,319 (GRCm39)	T265A	probably benign	Het
Npas3	T	C	12: 54,114,818 (GRCm39)	L580P	possibly damaging	Het
Or4f47	G	A	2: 111,972,397 (GRCm39)	V36M	probably benign	Het
Or5b109	A	T	19: 13,212,400 (GRCm39)	Q262L	possibly damaging	Het
Or8b54	G	A	9: 38,686,960 (GRCm39)	M136I	possibly damaging	Het
Plec	A	G	15: 76,058,117 (GRCm39)	L3940P	probably damaging	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad54l	T	C	4: 115,967,215 (GRCm39)	H281R	probably damaging	Het
Rftn2	T	A	1: 55,224,149 (GRCm39)	Q397L	probably damaging	Het
Rnf166	C	T	8: 123,195,068 (GRCm39)	A151T	probably benign	Het
Setdb1	A	T	3: 95,246,113 (GRCm39)	I604N	possibly damaging	Het
Smr2	A	G	5: 88,256,726 (GRCm39)	T135A	unknown	Het
Snai2	C	A	16: 14,524,946 (GRCm39)	H151N	possibly damaging	Het
Spag6l	A	T	16: 16,598,492 (GRCm39)	I333N	probably benign	Het
Spta1	A	G	1: 174,039,139 (GRCm39)	T1161A	probably benign	Het
Sult2a1	G	T	7: 13,566,627 (GRCm39)	A116E	probably benign	Het
Tas2r120	T	A	6: 132,634,626 (GRCm39)	L236*	probably null	Het
Tchhl1	T	A	3: 93,377,819 (GRCm39)	N174K	possibly damaging	Het
Tex15	T	C	8: 34,065,784 (GRCm39)	L1738P	probably damaging	Het
Tmem25	A	G	9: 44,710,476 (GRCm39)		probably null	Het
Tubd1	A	T	11: 86,456,537 (GRCm39)	T399S	probably benign	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Zfp110	A	T	7: 12,582,485 (GRCm39)	I378L	probably benign	Het

Other mutations in Timp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Timp4	APN	6	115,223,269 (GRCm39)	missense	possibly damaging	0.73
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
Z1177:Timp4	UTSW	6	115,228,738 (GRCm39)	start codon destroyed	probably null	0.89

Predicted Primers

PCR Primer
(F):5'- CCACAGCACAATGTCAGTGTAG -3'
(R):5'- GCATAACTTCTGTGCGTGTG -3'

Sequencing Primer
(F):5'- CACAATGTCAGTGTAGGAAGTG -3'
(R):5'- CATAACTTCTGTGCGTGTGTATGTG -3'

Posted On

2022-02-07