Incidental Mutation 'IGL02223:Snip1'
ID 285231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snip1
Ensembl Gene ENSMUSG00000050213
Gene Name Smad nuclear interacting protein 1
Synonyms 2410133M08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02223
Quality Score
Status
Chromosome 4
Chromosomal Location 124960465-124967835 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124966545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 325 (F325S)
Ref Sequence ENSEMBL: ENSMUSP00000060721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052183]
AlphaFold Q8BIZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000052183
AA Change: F325S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000060721
Gene: ENSMUSG00000050213
AA Change: F325S

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
low complexity region 42 56 N/A INTRINSIC
low complexity region 62 89 N/A INTRINSIC
low complexity region 132 146 N/A INTRINSIC
FHA 267 331 1.52e-14 SMART
low complexity region 370 378 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145733
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 encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]
Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,506,909 (GRCm39) W1148* probably null Het
Adam17 A G 12: 21,411,706 (GRCm39) S62P possibly damaging Het
Akap8 T C 17: 32,535,621 (GRCm39) Y131C probably damaging Het
Ccdc169 A G 3: 55,049,721 (GRCm39) N48S probably benign Het
Ccdc80 A G 16: 44,915,966 (GRCm39) T241A probably damaging Het
Cct7 G T 6: 85,439,023 (GRCm39) M112I probably benign Het
Cftr G A 6: 18,221,481 (GRCm39) A198T probably damaging Het
Crk T C 11: 75,594,205 (GRCm39) V264A probably damaging Het
Dhx34 T C 7: 15,932,584 (GRCm39) T1071A probably benign Het
Dlst A G 12: 85,177,692 (GRCm39) I362V probably benign Het
Fat2 T C 11: 55,163,955 (GRCm39) E3100G probably benign Het
Fbxo11 A G 17: 88,316,714 (GRCm39) V323A probably benign Het
Foxe3 C A 4: 114,782,906 (GRCm39) R102L probably damaging Het
Gale T C 4: 135,693,817 (GRCm39) F162S probably damaging Het
Gipc2 G A 3: 151,833,687 (GRCm39) P198L probably damaging Het
Gm5258 A G 1: 86,251,118 (GRCm39) noncoding transcript Het
Gpatch11 A G 17: 79,152,608 (GRCm39) T259A probably benign Het
H2-M10.3 T C 17: 36,678,972 (GRCm39) N32S possibly damaging Het
Hdlbp T C 1: 93,340,171 (GRCm39) I999V probably damaging Het
Ibtk A G 9: 85,592,419 (GRCm39) probably benign Het
Ift46 A G 9: 44,697,609 (GRCm39) S165G probably damaging Het
Igsf1 A G X: 48,873,897 (GRCm39) S389P probably damaging Het
Lrrd1 A C 5: 3,900,211 (GRCm39) N172T probably benign Het
Mamdc2 G A 19: 23,336,507 (GRCm39) probably benign Het
Matn2 A G 15: 34,423,864 (GRCm39) N574S probably benign Het
Med1 T C 11: 98,048,702 (GRCm39) D683G probably damaging Het
Mon1a A G 9: 107,778,484 (GRCm39) E236G probably damaging Het
Moxd2 T A 6: 40,861,967 (GRCm39) I202F probably damaging Het
Nif3l1 T A 1: 58,487,202 (GRCm39) Y129* probably null Het
Nlrp5 T C 7: 23,129,447 (GRCm39) probably benign Het
Odad3 G A 9: 21,904,908 (GRCm39) R293C probably damaging Het
Or5k14 C T 16: 58,693,057 (GRCm39) G152E probably damaging Het
Pcx T C 19: 4,652,006 (GRCm39) Y84H probably damaging Het
Pom121l2 T C 13: 22,166,265 (GRCm39) S179P probably benign Het
Rexo4 C A 2: 26,845,511 (GRCm39) C369F probably damaging Het
Rigi T C 4: 40,209,993 (GRCm39) N692D possibly damaging Het
Scmh1 C A 4: 120,372,416 (GRCm39) H406Q probably benign Het
Slc12a8 A G 16: 33,445,060 (GRCm39) D372G probably damaging Het
Spr-ps1 C T 6: 85,132,181 (GRCm39) noncoding transcript Het
Stk36 A G 1: 74,662,496 (GRCm39) Y538C possibly damaging Het
Svil A G 18: 5,105,879 (GRCm39) probably benign Het
Syne2 A G 12: 76,155,079 (GRCm39) T6787A probably benign Het
Tbcel T G 9: 42,363,014 (GRCm39) M10L probably benign Het
Tesk2 T A 4: 116,599,022 (GRCm39) Y43* probably null Het
Tjp1 C T 7: 64,972,349 (GRCm39) R605Q probably damaging Het
Tmem65 A G 15: 58,662,000 (GRCm39) probably benign Het
Tnnt2 A G 1: 135,769,753 (GRCm39) probably benign Het
Trmt44 T C 5: 35,731,989 (GRCm39) E134G probably benign Het
Trpv2 T C 11: 62,472,081 (GRCm39) L91P probably benign Het
Ttn G A 2: 76,807,463 (GRCm39) T90I probably damaging Het
Yy1 A G 12: 108,759,466 (GRCm39) E43G unknown Het
Other mutations in Snip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0054:Snip1 UTSW 4 124,966,633 (GRCm39) nonsense probably null
R0054:Snip1 UTSW 4 124,966,633 (GRCm39) nonsense probably null
R1163:Snip1 UTSW 4 124,966,613 (GRCm39) missense probably damaging 1.00
R1735:Snip1 UTSW 4 124,964,994 (GRCm39) missense probably benign 0.00
R7218:Snip1 UTSW 4 124,966,712 (GRCm39) missense probably damaging 0.98
R7226:Snip1 UTSW 4 124,965,273 (GRCm39) missense probably benign 0.27
R7977:Snip1 UTSW 4 124,960,732 (GRCm39) missense probably damaging 0.99
R7987:Snip1 UTSW 4 124,960,732 (GRCm39) missense probably damaging 0.99
R7999:Snip1 UTSW 4 124,965,174 (GRCm39) missense probably benign 0.00
R8392:Snip1 UTSW 4 124,960,618 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16