Incidental Mutation 'IGL02578:Scimp'
ID 299275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scimp
Ensembl Gene ENSMUSG00000057135
Gene Name SLP adaptor and CSK interacting membrane protein
Synonyms A430084P05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02578
Quality Score
Status
Chromosome 11
Chromosomal Location 70681758-70703387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70682387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 110 (I110F)
Ref Sequence ENSEMBL: ENSMUSP00000104174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074572] [ENSMUST00000108534]
AlphaFold Q3UU41
Predicted Effect probably benign
Transcript: ENSMUST00000074572
SMART Domains Protein: ENSMUSP00000074157
Gene: ENSMUSG00000057135

DomainStartEndE-ValueType
Pfam:SCIMP 1 67 6.7e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108534
AA Change: I110F

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104174
Gene: ENSMUSG00000057135
AA Change: I110F

DomainStartEndE-ValueType
Pfam:SCIMP 1 132 1.9e-70 PFAM
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 transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutant mice are anemic. Male mutants also exhibit increased mean body weight and an increased mean serum cholesterol level. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,023,179 (GRCm39) probably null Het
Ago1 T A 4: 126,333,324 (GRCm39) D545V probably benign Het
Arid2 T C 15: 96,270,116 (GRCm39) S1410P probably benign Het
Cbfa2t3 T A 8: 123,360,187 (GRCm39) D488V possibly damaging Het
Cdx2 T C 5: 147,240,094 (GRCm39) D194G probably damaging Het
Cyp4a32 A G 4: 115,466,939 (GRCm39) Q208R possibly damaging Het
Degs1 A C 1: 182,106,592 (GRCm39) Y222* probably null Het
Dnah7a T A 1: 53,472,074 (GRCm39) E3564D probably benign Het
Dsg4 A T 18: 20,604,250 (GRCm39) I906F possibly damaging Het
Elovl3 A G 19: 46,123,132 (GRCm39) H236R possibly damaging Het
Foxp2 A G 6: 15,376,814 (GRCm39) probably benign Het
Gm9892 A T 8: 52,649,328 (GRCm39) noncoding transcript Het
Herc2 A G 7: 55,756,283 (GRCm39) probably null Het
Hhat A G 1: 192,376,221 (GRCm39) V304A probably damaging Het
Il16 C T 7: 83,327,194 (GRCm39) probably null Het
Kansl1l G A 1: 66,840,848 (GRCm39) Q151* probably null Het
Kmt2c G T 5: 25,571,198 (GRCm39) probably benign Het
Krt39 T C 11: 99,412,032 (GRCm39) N18S probably benign Het
Lcor G T 19: 41,547,589 (GRCm39) G391V probably damaging Het
Mical2 A T 7: 111,950,580 (GRCm39) T845S probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mphosph8 C T 14: 56,911,667 (GRCm39) A230V probably benign Het
Myh2 T A 11: 67,077,517 (GRCm39) M884K probably benign Het
Nlrp3 T C 11: 59,439,227 (GRCm39) L268P probably damaging Het
Ntng1 T A 3: 110,042,710 (GRCm39) T39S probably benign Het
Or10ag58 T A 2: 87,265,401 (GRCm39) I190K probably damaging Het
Or1j14 A C 2: 36,418,156 (GRCm39) H244P probably damaging Het
Or5al7 A T 2: 85,993,073 (GRCm39) Y73* probably null Het
Pde4b T A 4: 102,112,494 (GRCm39) M26K possibly damaging Het
Polh G A 17: 46,505,218 (GRCm39) Q133* probably null Het
Postn A T 3: 54,284,625 (GRCm39) N647I possibly damaging Het
Sell A G 1: 163,893,165 (GRCm39) D127G probably damaging Het
Serpinb12 G A 1: 106,883,220 (GRCm39) probably null Het
She A G 3: 89,739,373 (GRCm39) E188G probably damaging Het
Shisal2a C T 4: 108,225,225 (GRCm39) M112I probably benign Het
Slc22a1 T C 17: 12,886,126 (GRCm39) Y169C probably damaging Het
Slco2a1 C T 9: 102,923,957 (GRCm39) T57I probably damaging Het
Sox2 A T 3: 34,704,745 (GRCm39) M61L probably benign Het
Sra1 G A 18: 36,803,150 (GRCm39) Q32* probably null Het
Syne2 T A 12: 76,069,053 (GRCm39) S4340T possibly damaging Het
Ucn A C 5: 31,295,738 (GRCm39) W43G possibly damaging Het
Xdh C T 17: 74,213,241 (GRCm39) M836I probably damaging Het
Xirp2 T A 2: 67,341,591 (GRCm39) D1277E probably damaging Het
Other mutations in Scimp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1694:Scimp UTSW 11 70,684,618 (GRCm39) missense probably damaging 1.00
R1820:Scimp UTSW 11 70,682,423 (GRCm39) missense probably benign 0.32
R1983:Scimp UTSW 11 70,691,540 (GRCm39) missense probably damaging 0.99
R1989:Scimp UTSW 11 70,682,402 (GRCm39) missense possibly damaging 0.71
R4725:Scimp UTSW 11 70,691,539 (GRCm39) missense probably damaging 0.99
R4840:Scimp UTSW 11 70,682,294 (GRCm39) nonsense probably null
R4884:Scimp UTSW 11 70,688,865 (GRCm39) missense unknown
R5922:Scimp UTSW 11 70,691,642 (GRCm39) splice site probably null
R6376:Scimp UTSW 11 70,688,893 (GRCm39) missense possibly damaging 0.85
R7923:Scimp UTSW 11 70,682,341 (GRCm39) missense possibly damaging 0.86
Z1176:Scimp UTSW 11 70,691,624 (GRCm39) missense possibly damaging 0.86
Posted On 2015-04-16