Incidental Mutation 'R4717:Cemip'
ID 354130
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 041984-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R4717 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 83582065-83735710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83596488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1092 (I1092N)
Ref Sequence ENSEMBL: ENSMUSP00000063277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064174]
AlphaFold Q8BI06
Predicted Effect probably damaging
Transcript: ENSMUST00000064174
AA Change: I1092N

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: I1092N

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: ENSMUST00000142518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150495
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,097,783 (GRCm39) L60P probably damaging Het
Acsf2 T G 11: 94,450,372 (GRCm39) M512L probably benign Het
Ahrr T A 13: 74,363,885 (GRCm39) H312L probably benign Het
Akr1c18 T C 13: 4,186,717 (GRCm39) M244V probably benign Het
Aldh3b2 A G 19: 4,031,128 (GRCm39) Y459C probably damaging Het
Arhgap29 A T 3: 121,803,607 (GRCm39) I796L possibly damaging Het
Arrdc4 T A 7: 68,391,406 (GRCm39) D287V probably damaging Het
Astn2 A T 4: 65,562,991 (GRCm39) I930N possibly damaging Het
Bace2 T A 16: 97,238,073 (GRCm39) L508Q probably damaging Het
Baz2a G T 10: 127,960,811 (GRCm39) C1537F possibly damaging Het
Cad A G 5: 31,224,030 (GRCm39) probably null Het
Capn5 A T 7: 97,773,126 (GRCm39) I626N probably benign Het
Car8 A T 4: 8,169,685 (GRCm39) N274K probably damaging Het
Casp14 T C 10: 78,550,958 (GRCm39) I76V probably benign Het
Ccdc88c A G 12: 100,882,925 (GRCm39) V1649A probably benign Het
Clspn A G 4: 126,453,849 (GRCm39) N91D probably damaging Het
Cpxm2 A G 7: 131,656,574 (GRCm39) Y563H possibly damaging Het
Csnk1g2 T C 10: 80,473,749 (GRCm39) V72A probably benign Het
Cyp46a1 T C 12: 108,318,285 (GRCm39) probably null Het
Cyp4x1 T C 4: 114,978,902 (GRCm39) H206R probably benign Het
Dapk1 T A 13: 60,874,476 (GRCm39) probably null Het
Ddx1 A G 12: 13,290,888 (GRCm39) W76R probably damaging Het
Dhx29 G A 13: 113,083,469 (GRCm39) R508H unknown Het
Dnah2 T C 11: 69,320,183 (GRCm39) D3962G probably benign Het
Dnajc14 T A 10: 128,642,113 (GRCm39) C12S possibly damaging Het
Dock1 T C 7: 134,449,899 (GRCm39) I804T probably damaging Het
Efs G T 14: 55,157,801 (GRCm39) S170Y probably damaging Het
Eml4 G T 17: 83,755,654 (GRCm39) W295C probably benign Het
Fkbp15 A G 4: 62,226,306 (GRCm39) S748P probably damaging Het
Ghr T G 15: 3,349,235 (GRCm39) I648L possibly damaging Het
Gigyf1 T A 5: 137,523,494 (GRCm39) I942N probably damaging Het
Gpam T A 19: 55,064,046 (GRCm39) E682D probably benign Het
Gsr A T 8: 34,183,886 (GRCm39) K383* probably null Het
Hapln1 C A 13: 89,753,579 (GRCm39) S248R probably benign Het
Haus2 G T 2: 120,449,583 (GRCm39) R209L probably benign Het
Hhatl A G 9: 121,618,943 (GRCm39) F63S probably damaging Het
Hmcn1 A G 1: 150,494,816 (GRCm39) M4091T probably benign Het
Hspb7 A G 4: 141,149,896 (GRCm39) D94G probably damaging Het
Irf6 T A 1: 192,849,742 (GRCm39) probably null Het
Itgb2 T A 10: 77,381,878 (GRCm39) L60* probably null Het
Jmjd1c C T 10: 66,993,830 (GRCm39) Q104* probably null Het
Kcnh1 A G 1: 191,959,025 (GRCm39) D193G probably damaging Het
Klhl25 G T 7: 75,516,528 (GRCm39) C478F probably damaging Het
Klhl3 T C 13: 58,178,330 (GRCm39) D267G probably damaging Het
L3mbtl4 T G 17: 68,762,708 (GRCm39) H80Q probably null Het
Lhcgr C A 17: 89,049,895 (GRCm39) V544F probably benign Het
Mfsd4a T C 1: 131,985,633 (GRCm39) N168D probably benign Het
Mmp3 A G 9: 7,449,881 (GRCm39) Q255R possibly damaging Het
Mrgprb3 C A 7: 48,293,000 (GRCm39) G184C probably benign Het
Mtpap C T 18: 4,396,394 (GRCm39) A562V possibly damaging Het
Nid1 T C 13: 13,681,086 (GRCm39) V1072A probably benign Het
Nsf T G 11: 103,714,595 (GRCm39) K728T probably damaging Het
Or10ak7 T C 4: 118,791,626 (GRCm39) N140D probably benign Het
Or12j3 T C 7: 139,953,328 (GRCm39) N65S probably damaging Het
Or1e17 T A 11: 73,831,641 (GRCm39) S190T possibly damaging Het
Or2a5 T C 6: 42,874,158 (GRCm39) Y258H probably damaging Het
Or4k15b A T 14: 50,272,821 (GRCm39) V13E probably damaging Het
Pcsk5 A T 19: 17,502,631 (GRCm39) C894S probably damaging Het
Pde2a A G 7: 101,143,879 (GRCm39) D166G probably benign Het
Pfpl G A 19: 12,406,618 (GRCm39) E290K probably benign Het
Pi4kb A C 3: 94,906,162 (GRCm39) I570L probably damaging Het
Plxnb2 A T 15: 89,041,622 (GRCm39) C1727* probably null Het
Poln A T 5: 34,286,792 (GRCm39) D125E possibly damaging Het
Pomgnt1 A G 4: 116,011,412 (GRCm39) D259G possibly damaging Het
Prx A T 7: 27,216,152 (GRCm39) M218L probably benign Het
Pxn A T 5: 115,690,001 (GRCm39) Q342L probably damaging Het
Rhpn2 A G 7: 35,033,775 (GRCm39) D3G possibly damaging Het
Rnase2b C T 14: 51,400,174 (GRCm39) T85I possibly damaging Het
Rnaseh2b C A 14: 62,591,075 (GRCm39) T142K probably damaging Het
Sacs T C 14: 61,450,304 (GRCm39) S4117P probably damaging Het
Sdk2 T C 11: 113,745,195 (GRCm39) N700S probably damaging Het
Sec62 A C 3: 30,864,020 (GRCm39) K101Q unknown Het
Sel1l2 A C 2: 140,071,943 (GRCm39) L659R possibly damaging Het
Septin11 A G 5: 93,304,815 (GRCm39) I211V possibly damaging Het
Slc25a42 C T 8: 70,642,107 (GRCm39) E112K probably damaging Het
Spem2 T C 11: 69,708,609 (GRCm39) N119D probably benign Het
Themis G A 10: 28,665,748 (GRCm39) E604K probably benign Het
Tie1 T C 4: 118,343,414 (GRCm39) K150E probably damaging Het
Top6bl A G 19: 4,675,901 (GRCm39) probably benign Het
Ubap2 G A 4: 41,218,333 (GRCm39) T258I possibly damaging Het
Ushbp1 C T 8: 71,838,313 (GRCm39) A664T probably damaging Het
Vmn1r1 T C 1: 181,984,774 (GRCm39) N297S possibly damaging Het
Vmn1r173 A C 7: 23,402,637 (GRCm39) I291L probably damaging Het
Yy1 A G 12: 108,759,972 (GRCm39) I212V possibly damaging Het
Zfp442 A T 2: 150,250,149 (GRCm39) F527L probably damaging Het
Zyg11b T A 4: 108,099,069 (GRCm39) H632L probably damaging 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
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
R5090:Cemip UTSW 7 83,591,343 (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'- AACTGCACTGCACTTCTTAGGG -3'
(R):5'- CTCCCTGAACACTTTGCAACATAG -3'

Sequencing Primer
(F):5'- GCACTTCTTAGGGTTATAGGGAAAC -3'
(R):5'- GCCCTTGCCTAGAACTAA -3'
Posted On 2015-10-21