|Institutional Source||Beutler Lab|
|Gene Name||SprT-like N-terminal domain|
|Is this an essential gene?||Probably essential (E-score: 0.949)|
|Stock #||R7239 (G1)|
|Chromosomal Location||124897886-124906161 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 124900244 bp|
|Amino Acid Change||Valine to Alanine at position 121 (V121A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034467 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034467] [ENSMUST00000098312]|
|Predicted Effect||probably damaging
AA Change: V121A
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: V121A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.212|
|Coding Region Coverage||
|Validation Efficiency||99% (76/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die prior to implantation. Mice homozygous for a hypomorphic allele exhibit symptoms of progeria (lordokyphosis, cataracts, cachexia, reduced total fat mass and decreased exercise performance). [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sprtn||
(F):5'- CTTGGGTCTGCAGAAGGATAG -3'
(R):5'- ACCTAGTTCACTTTTACTGAATGGC -3'
(F):5'- GTGGTGGCAGAAACCTTTAATCCC -3'
(R):5'- CACCACTTGGGCTGAGTTAG -3'