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|Institutional Source||Beutler Lab|
|Gene Name||inter-alpha (globulin) inhibitor H5|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R4950 (G1)|
|Chromosomal Location||10153571-10256529 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 10235081 bp|
|Amino Acid Change||Isoleucine to Leucine at position 340 (I340L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026886 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026886]|
|Predicted Effect||probably damaging
AA Change: I340L
PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: I340L
|Meta Mutation Damage Score||0.5311|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itih5||
(F):5'- TAGACCATGTTCCAGCAGGG -3'
(R):5'- TGTTAGTATCAGCGCCAACTC -3'
(F):5'- TAAGTATAAACCCTGAAGCTGGTCC -3'
(R):5'- GCCAACTCCCAAAGTCTTGTC -3'