Incidental Mutation 'IGL02578:Scimp'
ID299275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scimp
Ensembl Gene ENSMUSG00000057135
Gene NameSLP adaptor and CSK interacting membrane protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL02578
Quality Score
Status
Chromosome11
Chromosomal Location70790932-70812586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70791561 bp
ZygosityHeterozygous
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]
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: 120,423,956 probably null Het
Ago1 T A 4: 126,439,531 D545V probably benign Het
Arid2 T C 15: 96,372,235 S1410P probably benign Het
Cbfa2t3 T A 8: 122,633,448 D488V possibly damaging Het
Cdx2 T C 5: 147,303,284 D194G probably damaging Het
Cyp4a32 A G 4: 115,609,742 Q208R possibly damaging Het
Degs1 A C 1: 182,279,027 Y222* probably null Het
Dnah7a T A 1: 53,432,915 E3564D probably benign Het
Dsg4 A T 18: 20,471,193 I906F possibly damaging Het
Elovl3 A G 19: 46,134,693 H236R possibly damaging Het
Fam159a C T 4: 108,368,028 M112I probably benign Het
Foxp2 A G 6: 15,376,815 probably benign Het
Gm9892 A T 8: 52,196,293 noncoding transcript Het
Herc2 A G 7: 56,106,535 probably null Het
Hhat A G 1: 192,693,913 V304A probably damaging Het
Il16 C T 7: 83,677,986 probably null Het
Kansl1l G A 1: 66,801,689 Q151* probably null Het
Kmt2c G T 5: 25,366,200 probably benign Het
Krt39 T C 11: 99,521,206 N18S probably benign Het
Lcor G T 19: 41,559,150 G391V probably damaging Het
Mical2 A T 7: 112,351,373 T845S probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mphosph8 C T 14: 56,674,210 A230V probably benign Het
Myh2 T A 11: 67,186,691 M884K probably benign Het
Nlrp3 T C 11: 59,548,401 L268P probably damaging Het
Ntng1 T A 3: 110,135,394 T39S probably benign Het
Olfr1043 A T 2: 86,162,729 Y73* probably null Het
Olfr1124 T A 2: 87,435,057 I190K probably damaging Het
Olfr342 A C 2: 36,528,144 H244P probably damaging Het
Pde4b T A 4: 102,255,297 M26K possibly damaging Het
Polh G A 17: 46,194,292 Q133* probably null Het
Postn A T 3: 54,377,204 N647I possibly damaging Het
Sell A G 1: 164,065,596 D127G probably damaging Het
Serpinb12 G A 1: 106,955,490 probably null Het
She A G 3: 89,832,066 E188G probably damaging Het
Slc22a1 T C 17: 12,667,239 Y169C probably damaging Het
Slco2a1 C T 9: 103,046,758 T57I probably damaging Het
Sox2 A T 3: 34,650,596 M61L probably benign Het
Sra1 G A 18: 36,670,097 Q32* probably null Het
Syne2 T A 12: 76,022,279 S4340T possibly damaging Het
Ucn A C 5: 31,138,394 W43G possibly damaging Het
Xdh C T 17: 73,906,246 M836I probably damaging Het
Xirp2 T A 2: 67,511,247 D1277E probably damaging Het
Other mutations in Scimp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1694:Scimp UTSW 11 70793792 missense probably damaging 1.00
R1820:Scimp UTSW 11 70791597 missense probably benign 0.32
R1983:Scimp UTSW 11 70800714 missense probably damaging 0.99
R1989:Scimp UTSW 11 70791576 missense possibly damaging 0.71
R4725:Scimp UTSW 11 70800713 missense probably damaging 0.99
R4840:Scimp UTSW 11 70791468 nonsense probably null
R4884:Scimp UTSW 11 70798039 missense unknown
R5922:Scimp UTSW 11 70800816 splice site probably null
R6376:Scimp UTSW 11 70798067 missense possibly damaging 0.85
Posted On2015-04-16