Incidental Mutation 'R5090:Cemip'
ID 387691
Institutional Source Beutler Lab
Gene Symbol Cemip
Ensembl Gene ENSMUSG00000052353
Gene Name cell migration inducing protein, hyaluronan binding
Synonyms 12H19.01.T7, 6330404C01Rik, 9930013L23Rik, Hybid
MMRRC Submission 042679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5090 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83582065-83735710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83591343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1243 (E1243G)
Ref Sequence ENSEMBL: ENSMUSP00000063277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064174]
AlphaFold Q8BI06
Predicted Effect probably damaging
Transcript: ENSMUST00000064174
AA Change: E1243G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: E1243G

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
G8 44 166 9.01e-42 SMART
Pfam:ILEI 187 281 2.1e-28 PFAM
Pfam:Mucin2_WxxW 324 403 1.2e-13 PFAM
PbH1 572 594 7.34e3 SMART
PbH1 595 617 3.73e3 SMART
PbH1 719 741 4.11e3 SMART
PbH1 798 819 6.96e2 SMART
Blast:PbH1 844 882 7e-17 BLAST
Blast:PbH1 917 952 2e-15 BLAST
Pfam:ILEI 1244 1334 2.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150495
Meta Mutation Damage Score 0.0646 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 99% (66/67)
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in Schwann cells exhibit transient acceleration of postnatal myelination, reduced demyelination in culture, and reduced myelin degradation and increases remyelination following nerve axotomy or sciatic nerve crush. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,984,422 (GRCm39) S1168G probably damaging Het
Acsf2 A T 11: 94,462,095 (GRCm39) probably null Het
Ankk1 G T 9: 49,333,063 (GRCm39) S140R probably damaging Het
Ash1l G T 3: 88,960,184 (GRCm39) K2305N probably damaging Het
Asnsd1 C T 1: 53,391,563 (GRCm39) probably benign Het
Atxn7l1 T C 12: 33,376,077 (GRCm39) S51P probably damaging Het
Ccdc88c A G 12: 100,920,439 (GRCm39) L394P probably damaging Het
Cd200r1 T A 16: 44,609,924 (GRCm39) S48T possibly damaging Het
Cep192 T A 18: 67,993,617 (GRCm39) H1977Q possibly damaging Het
Cep250 T C 2: 155,818,324 (GRCm39) L833P probably damaging Het
Chd9 C A 8: 91,753,462 (GRCm39) Y1818* probably null Het
Clca3a1 C A 3: 144,443,633 (GRCm39) V706L probably benign Het
Cntln T C 4: 84,865,830 (GRCm39) V162A probably damaging Het
Col5a1 G A 2: 27,908,614 (GRCm39) W67* probably null Het
Cux1 T A 5: 136,342,054 (GRCm39) N446I possibly damaging Het
Dlg1 G T 16: 31,656,902 (GRCm39) G599W probably damaging Het
Dock7 C T 4: 98,879,648 (GRCm39) V969I probably benign Het
Ephb3 T C 16: 21,033,237 (GRCm39) C74R probably damaging Het
Fads6 T A 11: 115,187,480 (GRCm39) T72S probably benign Het
Fra10ac1 C T 19: 38,202,873 (GRCm39) R110Q probably damaging Het
Gdf3 T A 6: 122,586,713 (GRCm39) L71F probably benign Het
Gm6685 A G 11: 28,289,253 (GRCm39) Y188H probably benign Het
Gm6981 A C 9: 51,914,142 (GRCm39) noncoding transcript Het
Gnpda1 T C 18: 38,465,146 (GRCm39) T157A probably damaging Het
Grap2 A C 15: 80,522,683 (GRCm39) N70H possibly damaging Het
Gvin3 T A 7: 106,200,109 (GRCm39) noncoding transcript Het
Hdac5 G A 11: 102,088,539 (GRCm39) R887C probably damaging Het
Hectd3 T A 4: 116,857,435 (GRCm39) probably benign Het
Hmgcr T C 13: 96,787,098 (GRCm39) K162E probably benign Het
Inpp5e A T 2: 26,289,383 (GRCm39) probably null Het
Kifap3 A G 1: 163,683,645 (GRCm39) D442G possibly damaging Het
Lama3 A G 18: 12,675,459 (GRCm39) T1015A possibly damaging Het
Lcp2 T A 11: 34,039,725 (GRCm39) Y508* probably null Het
Map1b G T 13: 99,566,534 (GRCm39) Y2062* probably null Het
Mipep A G 14: 61,039,748 (GRCm39) D259G possibly damaging Het
Mmp2 T C 8: 93,579,202 (GRCm39) F97S probably damaging Het
Mrpl18 A C 17: 13,132,697 (GRCm39) M144R probably damaging Het
Nek9 A G 12: 85,376,616 (GRCm39) probably null Het
Nmral1 A T 16: 4,532,395 (GRCm39) Y139N probably damaging Het
Notch4 T C 17: 34,799,894 (GRCm39) C952R probably damaging Het
Nsf T C 11: 103,801,404 (GRCm39) N204D probably benign Het
P2rx4 A T 5: 122,863,118 (GRCm39) D197V probably damaging Het
Pak5 A T 2: 135,929,338 (GRCm39) I615N probably damaging Het
Parp10 T C 15: 76,125,925 (GRCm39) D421G probably damaging Het
Pcdha6 A T 18: 37,101,770 (GRCm39) D321V probably benign Het
Pkhd1 T A 1: 20,270,981 (GRCm39) I3191F probably damaging Het
Psmd4 T C 3: 94,942,559 (GRCm39) N7S possibly damaging Het
Ptprq A G 10: 107,361,950 (GRCm39) V2084A probably damaging Het
Rab3gap1 A G 1: 127,843,415 (GRCm39) E263G probably benign Het
Rbm5 A G 9: 107,637,511 (GRCm39) probably benign Het
Sacs T C 14: 61,442,702 (GRCm39) F1583L probably damaging Het
Sel1l3 G T 5: 53,357,388 (GRCm39) H201Q probably benign Het
Shoc1 T C 4: 59,111,108 (GRCm39) T55A unknown Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Trim55 A G 3: 19,725,771 (GRCm39) N313S probably benign Het
Usp17lb A T 7: 104,490,290 (GRCm39) D212E probably benign Het
Xirp2 A G 2: 67,355,814 (GRCm39) E3525G possibly damaging Het
Zfp236 T C 18: 82,637,006 (GRCm39) T1379A probably benign Het
Zfp553 A T 7: 126,834,659 (GRCm39) E71D probably damaging Het
Znrf1 T G 8: 112,265,035 (GRCm39) F21V probably benign Het
Other mutations in Cemip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00781:Cemip APN 7 83,596,488 (GRCm39) missense possibly damaging 0.63
IGL01520:Cemip APN 7 83,597,830 (GRCm39) missense probably benign 0.27
IGL01646:Cemip APN 7 83,632,440 (GRCm39) missense possibly damaging 0.81
IGL02057:Cemip APN 7 83,636,661 (GRCm39) missense probably damaging 1.00
IGL02058:Cemip APN 7 83,646,500 (GRCm39) missense probably damaging 0.99
IGL02120:Cemip APN 7 83,600,771 (GRCm39) missense probably damaging 0.99
IGL02278:Cemip APN 7 83,586,646 (GRCm39) missense probably damaging 1.00
IGL02331:Cemip APN 7 83,613,192 (GRCm39) critical splice donor site probably null
IGL02366:Cemip APN 7 83,592,849 (GRCm39) missense probably benign 0.08
IGL02434:Cemip APN 7 83,604,492 (GRCm39) missense probably damaging 0.98
IGL02622:Cemip APN 7 83,613,383 (GRCm39) missense probably damaging 1.00
IGL02958:Cemip APN 7 83,624,263 (GRCm39) missense probably damaging 0.99
IGL02979:Cemip APN 7 83,652,514 (GRCm39) splice site probably benign
IGL03280:Cemip APN 7 83,636,538 (GRCm39) splice site probably benign
IGL03400:Cemip APN 7 83,607,724 (GRCm39) missense probably damaging 0.96
IGL03134:Cemip UTSW 7 83,648,445 (GRCm39) missense probably damaging 1.00
PIT4618001:Cemip UTSW 7 83,593,147 (GRCm39) missense probably benign 0.07
R0149:Cemip UTSW 7 83,613,218 (GRCm39) missense probably benign
R0212:Cemip UTSW 7 83,622,398 (GRCm39) missense probably damaging 0.99
R0361:Cemip UTSW 7 83,613,218 (GRCm39) missense probably benign
R0565:Cemip UTSW 7 83,613,318 (GRCm39) missense probably damaging 0.99
R0727:Cemip UTSW 7 83,610,786 (GRCm39) missense probably benign 0.00
R1342:Cemip UTSW 7 83,593,283 (GRCm39) nonsense probably null
R1456:Cemip UTSW 7 83,647,718 (GRCm39) missense possibly damaging 0.96
R1526:Cemip UTSW 7 83,600,648 (GRCm39) missense probably damaging 1.00
R1676:Cemip UTSW 7 83,613,246 (GRCm39) missense possibly damaging 0.77
R1718:Cemip UTSW 7 83,584,866 (GRCm39) missense probably benign 0.00
R2234:Cemip UTSW 7 83,647,770 (GRCm39) missense probably benign 0.02
R2513:Cemip UTSW 7 83,591,233 (GRCm39) missense probably benign 0.11
R3788:Cemip UTSW 7 83,593,106 (GRCm39) missense probably damaging 1.00
R3964:Cemip UTSW 7 83,600,717 (GRCm39) missense probably benign 0.43
R3966:Cemip UTSW 7 83,600,717 (GRCm39) missense probably benign 0.43
R4436:Cemip UTSW 7 83,636,637 (GRCm39) missense probably null 0.43
R4584:Cemip UTSW 7 83,607,747 (GRCm39) missense probably damaging 1.00
R4601:Cemip UTSW 7 83,600,826 (GRCm39) missense probably damaging 0.98
R4717:Cemip UTSW 7 83,596,488 (GRCm39) missense probably damaging 0.97
R4767:Cemip UTSW 7 83,622,514 (GRCm39) missense probably damaging 1.00
R4822:Cemip UTSW 7 83,622,449 (GRCm39) missense probably benign 0.27
R4849:Cemip UTSW 7 83,584,945 (GRCm39) missense possibly damaging 0.52
R4910:Cemip UTSW 7 83,646,619 (GRCm39) missense probably damaging 1.00
R4911:Cemip UTSW 7 83,632,461 (GRCm39) missense probably damaging 1.00
R4922:Cemip UTSW 7 83,596,308 (GRCm39) intron probably benign
R4924:Cemip UTSW 7 83,602,146 (GRCm39) missense probably damaging 1.00
R5310:Cemip UTSW 7 83,641,241 (GRCm39) missense probably damaging 1.00
R5327:Cemip UTSW 7 83,604,509 (GRCm39) missense probably damaging 0.99
R5378:Cemip UTSW 7 83,607,733 (GRCm39) missense probably damaging 1.00
R5444:Cemip UTSW 7 83,631,499 (GRCm39) missense probably damaging 0.98
R5644:Cemip UTSW 7 83,638,392 (GRCm39) missense probably benign 0.03
R5688:Cemip UTSW 7 83,610,849 (GRCm39) missense probably damaging 1.00
R5714:Cemip UTSW 7 83,624,387 (GRCm39) missense probably damaging 1.00
R6170:Cemip UTSW 7 83,596,438 (GRCm39) missense possibly damaging 0.89
R6505:Cemip UTSW 7 83,600,805 (GRCm39) nonsense probably null
R6713:Cemip UTSW 7 83,592,845 (GRCm39) missense probably benign 0.03
R6767:Cemip UTSW 7 83,647,832 (GRCm39) missense probably damaging 1.00
R6817:Cemip UTSW 7 83,637,200 (GRCm39) missense probably damaging 1.00
R6896:Cemip UTSW 7 83,647,784 (GRCm39) missense probably damaging 1.00
R6945:Cemip UTSW 7 83,647,755 (GRCm39) missense probably damaging 1.00
R7236:Cemip UTSW 7 83,598,012 (GRCm39) splice site probably null
R7410:Cemip UTSW 7 83,602,042 (GRCm39) missense probably damaging 1.00
R7483:Cemip UTSW 7 83,647,784 (GRCm39) missense probably damaging 0.99
R7734:Cemip UTSW 7 83,606,872 (GRCm39) nonsense probably null
R7924:Cemip UTSW 7 83,592,923 (GRCm39) splice site probably benign
R7962:Cemip UTSW 7 83,652,616 (GRCm39) start gained probably benign
R7988:Cemip UTSW 7 83,652,616 (GRCm39) start gained probably benign
R7993:Cemip UTSW 7 83,613,383 (GRCm39) missense probably damaging 1.00
R8005:Cemip UTSW 7 83,652,616 (GRCm39) start gained probably benign
R8077:Cemip UTSW 7 83,652,616 (GRCm39) start gained probably benign
R8130:Cemip UTSW 7 83,596,384 (GRCm39) missense probably benign
R8131:Cemip UTSW 7 83,652,616 (GRCm39) start gained probably benign
R8172:Cemip UTSW 7 83,646,433 (GRCm39) missense probably damaging 1.00
R8220:Cemip UTSW 7 83,596,368 (GRCm39) missense probably damaging 1.00
R8345:Cemip UTSW 7 83,591,373 (GRCm39) critical splice acceptor site probably null
R8391:Cemip UTSW 7 83,604,517 (GRCm39) missense probably damaging 0.99
R8492:Cemip UTSW 7 83,622,422 (GRCm39) missense probably damaging 0.99
R8496:Cemip UTSW 7 83,600,634 (GRCm39) missense probably benign 0.00
R8698:Cemip UTSW 7 83,607,790 (GRCm39) missense probably damaging 0.98
R8835:Cemip UTSW 7 83,586,651 (GRCm39) missense probably damaging 1.00
R9229:Cemip UTSW 7 83,606,833 (GRCm39) missense probably damaging 1.00
RF008:Cemip UTSW 7 83,610,843 (GRCm39) missense probably damaging 0.99
T0970:Cemip UTSW 7 83,632,354 (GRCm39) missense probably damaging 0.99
X0067:Cemip UTSW 7 83,596,416 (GRCm39) missense probably damaging 0.98
Z1177:Cemip UTSW 7 83,596,504 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAATCTGTTGTGTCACTGGAC -3'
(R):5'- GGCACATCTTTTGGGAGGTTAC -3'

Sequencing Primer
(F):5'- TGCCACGTAGTTGAAGAG -3'
(R):5'- CTTTTGGGAGGTTACTATTCAAACC -3'
Posted On 2016-06-06