|Institutional Source||Beutler Lab|
|Gene Name||serum response factor|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7177 (G1)|
|Chromosomal Location||46546839-46556162 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46555392 bp|
|Amino Acid Change||Phenylalanine to Serine at position 146 (F146S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015749]|
|Predicted Effect||probably damaging
AA Change: F146S
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: F146S
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality, abnormal gastrulation, no mesoderm or primitive streak formation and reduced embryo size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Srf||
(F):5'- ACACACCTCCTGCGGACTAG -3'
(R):5'- TGTTACCGAGCCAAGCTGG -3'
(F):5'- GACTAGCCCGCCTCTCAC -3'
(R):5'- AGAGTCGTCTGGAGCGG -3'