Incidental Mutation 'R1820:Scimp'
ID 204799
Institutional Source Beutler Lab
Gene Symbol Scimp
Ensembl Gene ENSMUSG00000057135
Gene Name SLP adaptor and CSK interacting membrane protein
Synonyms A430084P05Rik
MMRRC Submission 039848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R1820 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70681758-70703387 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70682423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 98 (S98T)
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 probably benign
Transcript: ENSMUST00000108534
AA Change: S98T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000104174
Gene: ENSMUSG00000057135
AA Change: S98T

DomainStartEndE-ValueType
Pfam:SCIMP 1 132 1.9e-70 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.5%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,197,018 (GRCm39) V197A possibly damaging Het
9230109A22Rik T C 15: 25,139,176 (GRCm39) noncoding transcript Het
Acbd3 A G 1: 180,572,703 (GRCm39) N321S probably benign Het
Actr3b T C 5: 26,054,156 (GRCm39) probably null Het
Aldh5a1 T C 13: 25,111,555 (GRCm39) D124G probably benign Het
Arhgap35 G A 7: 16,295,874 (GRCm39) R1064W possibly damaging Het
Arhgef9 T A X: 94,125,142 (GRCm39) I225F probably damaging Het
Arl16 T C 11: 120,357,587 (GRCm39) T43A probably damaging Het
Camsap3 T C 8: 3,653,485 (GRCm39) W409R probably damaging Het
Cfap43 T A 19: 47,885,655 (GRCm39) H320L probably damaging Het
Chac2 T A 11: 30,927,496 (GRCm39) N141I probably damaging Het
Chtf18 C A 17: 25,944,913 (GRCm39) G211C probably damaging Het
Cplane1 A G 15: 8,299,129 (GRCm39) K3106E unknown Het
Cwf19l1 T A 19: 44,115,826 (GRCm39) Y201F probably benign Het
Dcun1d1 A T 3: 35,973,153 (GRCm39) L114* probably null Het
Fdps A T 3: 89,002,350 (GRCm39) H249Q probably benign Het
Fhip1a T A 3: 85,573,136 (GRCm39) T938S probably damaging Het
Gabrg1 T A 5: 70,931,756 (GRCm39) Y329F probably damaging Het
Kctd8 T A 5: 69,497,684 (GRCm39) I321F probably damaging Het
Kdm5b G T 1: 134,525,408 (GRCm39) R299L possibly damaging Het
Kif23 T C 9: 61,833,720 (GRCm39) T494A possibly damaging Het
Kmt2e A G 5: 23,678,545 (GRCm39) H208R probably damaging Het
Lipo5 A T 19: 33,441,995 (GRCm39) probably null Het
Lrrc28 G T 7: 67,290,859 (GRCm39) T54K probably damaging Het
Luc7l2 G A 6: 38,575,754 (GRCm39) probably null Het
Man2a2 A G 7: 80,008,681 (GRCm39) F899L probably benign Het
Myo9b T C 8: 71,786,002 (GRCm39) I633T probably damaging Het
Nynrin A T 14: 56,107,835 (GRCm39) I981F possibly damaging Het
Or5an1c A T 19: 12,218,612 (GRCm39) S138T probably damaging Het
Or8g28 A G 9: 39,169,695 (GRCm39) I91T possibly damaging Het
Pank1 A G 19: 34,855,084 (GRCm39) probably null Het
Phc2 C T 4: 128,637,336 (GRCm39) A47V probably damaging Het
Plekhs1 A G 19: 56,466,954 (GRCm39) R262G possibly damaging Het
Pnp2 C A 14: 51,201,914 (GRCm39) P300Q possibly damaging Het
Polq T A 16: 36,849,780 (GRCm39) S345T possibly damaging Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Psmd5 T C 2: 34,760,758 (GRCm39) probably null Het
Rfx6 T G 10: 51,599,221 (GRCm39) probably null Het
Rhbdd2 G A 5: 135,664,903 (GRCm39) C78Y probably damaging Het
Rnf157 G T 11: 116,245,477 (GRCm39) P313T probably damaging Het
Ryr2 A G 13: 11,602,202 (GRCm39) L4560P probably damaging Het
Scai A T 2: 38,996,990 (GRCm39) M268K possibly damaging Het
Scd3 A T 19: 44,230,245 (GRCm39) T343S probably benign Het
Sfrp2 A G 3: 83,680,461 (GRCm39) N207S probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sis T C 3: 72,828,475 (GRCm39) Y1200C probably damaging Het
Sp1 T A 15: 102,317,511 (GRCm39) S343R possibly damaging Het
Spata31d1a A T 13: 59,849,069 (GRCm39) C1020S possibly damaging Het
Spink5 A G 18: 44,122,486 (GRCm39) N317S possibly damaging Het
Sptbn2 A G 19: 4,776,624 (GRCm39) D224G probably damaging Het
St8sia3 T C 18: 64,402,703 (GRCm39) I114T probably damaging Het
Zscan5b C A 7: 6,242,162 (GRCm39) H460Q probably damaging Het
Other mutations in Scimp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02578:Scimp APN 11 70,682,387 (GRCm39) missense possibly damaging 0.71
R1694:Scimp UTSW 11 70,684,618 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGTGCTTGTGTTATAATCCGGC -3'
(R):5'- GGGTGATCCTGAGACATGTGTC -3'

Sequencing Primer
(F):5'- TGTGTTATAATCCGGCTATTCTAGAG -3'
(R):5'- CATGTCTGTGACTGGTTTTCC -3'
Posted On 2014-06-23