Incidental Mutation 'R5922:Scimp'
ID 461639
Institutional Source Beutler Lab
Gene Symbol Scimp
Ensembl Gene ENSMUSG00000057135
Gene Name SLP adaptor and CSK interacting membrane protein
Synonyms A430084P05Rik
MMRRC Submission 043240-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5922 (G1)
Quality Score 215
Status Not validated
Chromosome 11
Chromosomal Location 70681758-70703387 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 70691642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074572] [ENSMUST00000108534]
AlphaFold Q3UU41
Predicted Effect probably null
Transcript: ENSMUST00000074572
SMART Domains Protein: ENSMUSP00000074157
Gene: ENSMUSG00000057135

DomainStartEndE-ValueType
Pfam:SCIMP 1 67 6.7e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108534
SMART Domains Protein: ENSMUSP00000104174
Gene: ENSMUSG00000057135

DomainStartEndE-ValueType
Pfam:SCIMP 1 132 1.9e-70 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7a G T 4: 56,743,827 (GRCm39) R118L probably damaging Het
Atr A G 9: 95,785,735 (GRCm39) D1429G probably benign Het
Brinp2 A T 1: 158,076,925 (GRCm39) V390D possibly damaging Het
Cpn1 T C 19: 43,974,532 (GRCm39) S66G probably damaging Het
Dnal1 C A 12: 84,173,746 (GRCm39) L55M probably damaging Het
Dus2 G A 8: 106,780,037 (GRCm39) R453Q possibly damaging Het
Efcab5 T C 11: 77,079,570 (GRCm39) T59A probably benign Het
Elmo1 A G 13: 20,789,339 (GRCm39) D685G probably damaging Het
Ern1 T C 11: 106,312,556 (GRCm39) E275G probably damaging Het
Etnk2 A G 1: 133,291,623 (GRCm39) probably null Het
Fign T C 2: 63,809,404 (GRCm39) D622G probably damaging Het
Gjb2 A G 14: 57,337,755 (GRCm39) M151T probably benign Het
Heatr9 C T 11: 83,403,193 (GRCm39) probably null Het
Herpud2 G A 9: 25,020,280 (GRCm39) L359F probably benign Het
Hpx C T 7: 105,244,831 (GRCm39) R118H probably damaging Het
Hyal2 A G 9: 107,448,106 (GRCm39) Y253C probably damaging Het
Igkv14-130 T C 6: 67,768,206 (GRCm39) C22R probably damaging Het
Ms4a6b T A 19: 11,497,743 (GRCm39) I14N possibly damaging Het
Myb T A 10: 21,028,826 (GRCm39) I91F probably damaging Het
Myh6 C T 14: 55,183,931 (GRCm39) D1668N probably damaging Het
Noc2l C T 4: 156,325,770 (GRCm39) Q182* probably null Het
Nsd1 A G 13: 55,395,288 (GRCm39) N1066S probably benign Het
Nup98 A G 7: 101,803,224 (GRCm39) Y659H probably damaging Het
Nutm1 T C 2: 112,079,659 (GRCm39) E752G possibly damaging Het
Paqr6 G T 3: 88,273,544 (GRCm39) A154S probably benign Het
Pdlim7 G T 13: 55,656,768 (GRCm39) T62K probably damaging Het
Pibf1 A G 14: 99,374,524 (GRCm39) D321G probably benign Het
Plrg1 T A 3: 82,964,155 (GRCm39) N29K possibly damaging Het
Sec16a T C 2: 26,305,651 (GRCm39) N2251S probably benign Het
Sec61a2 A T 2: 5,879,134 (GRCm39) D291E possibly damaging Het
Serpina3i A G 12: 104,232,766 (GRCm39) K224E probably benign Het
Spz1 A T 13: 92,712,106 (GRCm39) D123E possibly damaging Het
St14 A T 9: 31,041,200 (GRCm39) probably benign Het
Ush1c A T 7: 45,853,552 (GRCm39) probably null Het
Usp54 T C 14: 20,602,139 (GRCm39) probably null Het
Zfhx3 C T 8: 109,673,330 (GRCm39) T1460M probably damaging Het
Zfp712 G T 13: 67,189,668 (GRCm39) N286K probably benign 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
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
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'- TTGCTGCACTGACATCACC -3'
(R):5'- CAGCAAACCATGGTTGTGGC -3'

Sequencing Primer
(F):5'- TGACATCACCTGCCCCG -3'
(R):5'- GACCCTTATGAAGTACTTGGCAGC -3'
Posted On 2017-02-28