Incidental Mutation 'R4910:Cemip'
ID 379405
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 042512-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R4910 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 83582065-83735710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83646619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 143 (I143N)
Ref Sequence ENSEMBL: ENSMUSP00000063277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064174]
AlphaFold Q8BI06
Predicted Effect probably damaging
Transcript: ENSMUST00000064174
AA Change: I143N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: I143N

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: ENSMUST00000147578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150495
Meta Mutation Damage Score 0.4729 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.6%
  • 20x: 86.1%
Validation Efficiency 95% (144/151)
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: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,435 (GRCm39) probably null Het
Adam3 T A 8: 25,184,321 (GRCm39) I560L probably benign Het
Agxt T C 1: 93,063,436 (GRCm39) F113L probably benign Het
Aknad1 T A 3: 108,688,568 (GRCm39) probably null Het
Alpk2 T A 18: 65,399,357 (GRCm39) K2074* probably null Het
Apob A G 12: 8,057,848 (GRCm39) Y2077C probably damaging Het
Arhgap17 A T 7: 122,907,600 (GRCm39) L254Q probably damaging Het
Arhgap26 T A 18: 39,126,690 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,249,762 (GRCm39) D171G probably benign Het
Arid1b T A 17: 5,392,478 (GRCm39) S2003T probably damaging Het
Armc5 T G 7: 127,839,900 (GRCm39) L406R possibly damaging Het
Arsb T C 13: 93,908,485 (GRCm39) V67A probably benign Het
Aspm A G 1: 139,419,281 (GRCm39) Y2982C probably damaging Het
Bltp1 C A 3: 37,052,348 (GRCm39) T3016K probably damaging Het
Btbd7 A G 12: 102,774,307 (GRCm39) L487P probably damaging Het
Card11 C G 5: 140,860,169 (GRCm39) D1063H probably damaging Het
Ccdc186 G A 19: 56,787,123 (GRCm39) T615M probably damaging Het
Cd101 T A 3: 100,901,205 (GRCm39) T960S probably benign Het
Cdca7l C A 12: 117,837,520 (GRCm39) S191* probably null Het
Cep170 C T 1: 176,609,829 (GRCm39) E161K possibly damaging Het
Cfhr4 T G 1: 139,702,301 (GRCm39) D61A probably damaging Het
Chrm2 A T 6: 36,501,168 (GRCm39) T342S probably benign Het
Cib2 A G 9: 54,457,163 (GRCm39) F34L probably benign Het
Cnot1 A T 8: 96,459,859 (GRCm39) I1836N probably benign Het
Col4a3 C A 1: 82,650,400 (GRCm39) P552Q unknown Het
Cp T A 3: 20,043,388 (GRCm39) probably benign Het
Cul3 C T 1: 80,267,806 (GRCm39) V112I probably benign Het
Dcdc5 A G 2: 106,195,895 (GRCm39) noncoding transcript Het
Disp1 A T 1: 182,917,027 (GRCm39) V133E probably damaging Het
Dlg4 A G 11: 69,921,751 (GRCm39) D30G probably damaging Het
Dop1a C T 9: 86,374,114 (GRCm39) T191I probably damaging Het
Enam T G 5: 88,650,173 (GRCm39) S561A probably benign Het
Fbxw8 G T 5: 118,263,092 (GRCm39) probably null Het
Filip1 A G 9: 79,725,214 (GRCm39) V1135A probably benign Het
Galnt6 T C 15: 100,614,059 (GRCm39) T81A probably benign Het
Ghdc T C 11: 100,657,814 (GRCm39) K472E probably benign Het
Gm10568 T G 1: 3,751,164 (GRCm39) noncoding transcript Het
Gm4953 T A 1: 158,995,929 (GRCm39) noncoding transcript Het
Gm6871 T A 7: 41,223,016 (GRCm39) H24L probably benign Het
Gpr155 G A 2: 73,197,882 (GRCm39) Q413* probably null Het
Grhl2 A G 15: 37,291,920 (GRCm39) probably null Het
Ighv1-31 G C 12: 114,793,128 (GRCm39) S36* probably null Het
Ighv8-5 A G 12: 115,031,462 (GRCm39) S26P probably damaging Het
Igkv17-134 A C 6: 67,697,910 (GRCm39) probably benign Het
Igkv5-48 A C 6: 69,703,833 (GRCm39) L24R probably damaging Het
Isg20l2 T A 3: 87,846,570 (GRCm39) V340E probably damaging Het
Lrrtm1 A G 6: 77,221,884 (GRCm39) Y447C probably damaging Het
Ltbp1 T C 17: 75,634,287 (GRCm39) S855P probably damaging Het
Mgat4e A T 1: 134,469,602 (GRCm39) N147K probably damaging Het
Mlc1 A G 15: 88,842,415 (GRCm39) L315P possibly damaging Het
Mrgpra2a A G 7: 47,076,292 (GRCm39) V322A probably benign Het
Mroh7 T C 4: 106,567,152 (GRCm39) probably null Het
Mybpc1 T A 10: 88,391,586 (GRCm39) K304* probably null Het
Nlrp14 A C 7: 106,785,790 (GRCm39) D622A possibly damaging Het
Nlrp1b T A 11: 71,108,103 (GRCm39) H466L probably benign Het
Nlrp4d T A 7: 10,112,336 (GRCm39) noncoding transcript Het
Nrxn3 A G 12: 89,227,130 (GRCm39) E628G possibly damaging Het
Nup133 T C 8: 124,653,870 (GRCm39) R530G possibly damaging Het
Nup98 A G 7: 101,845,007 (GRCm39) S21P unknown Het
Or2h2b-ps1 T C 17: 37,480,934 (GRCm39) I202V probably benign Het
Or2l13b T C 16: 19,348,768 (GRCm39) T301A probably benign Het
Or4f14b A T 2: 111,775,423 (GRCm39) I126K possibly damaging Het
Or52e8 G A 7: 104,624,686 (GRCm39) P169S possibly damaging Het
Or5k1 T A 16: 58,617,805 (GRCm39) T135S probably benign Het
Or6c66 T C 10: 129,461,676 (GRCm39) T85A probably damaging Het
Or8c11 T A 9: 38,290,038 (GRCm39) V287E probably null Het
Otog A T 7: 45,913,486 (GRCm39) Y773F probably damaging Het
Otog A T 7: 45,947,958 (GRCm39) I2320F probably damaging Het
Otogl T C 10: 107,715,378 (GRCm39) S433G probably benign Het
Pcdhb17 A T 18: 37,618,212 (GRCm39) M1L possibly damaging Het
Pde7b T A 10: 20,600,480 (GRCm39) probably benign Het
Pgm1 T C 4: 99,820,724 (GRCm39) V207A probably damaging Het
Pkd1 T A 17: 24,791,661 (GRCm39) V1116E probably damaging Het
Pkd1l1 T A 11: 8,879,360 (GRCm39) Y497F possibly damaging Het
Pomgnt2 T C 9: 121,812,013 (GRCm39) N256S probably benign Het
Pot1a A T 6: 25,746,020 (GRCm39) probably benign Het
Prdm9 T C 17: 15,764,585 (GRCm39) T732A probably benign Het
Prg4 T A 1: 150,331,574 (GRCm39) probably benign Het
Ptpro T C 6: 137,345,336 (GRCm39) V114A probably damaging Het
Pyurf A G 6: 57,668,933 (GRCm39) S20P unknown Het
Rasgrf1 A G 9: 89,858,805 (GRCm39) T488A probably benign Het
Rassf8 A T 6: 145,761,006 (GRCm39) K111* probably null Het
Reps1 A T 10: 17,983,436 (GRCm39) E426D probably damaging Het
Robo2 T C 16: 73,730,666 (GRCm39) K982R probably damaging Het
Rps23 T C 13: 91,071,871 (GRCm39) probably null Het
Scamp4 T A 10: 80,445,505 (GRCm39) V56E probably damaging Het
Serpina1c C T 12: 103,861,291 (GRCm39) V408I probably benign Het
Sigirr A G 7: 140,673,701 (GRCm39) W49R probably damaging Het
Slc17a6 A T 7: 51,308,489 (GRCm39) H271L possibly damaging Het
Slc7a5 G T 8: 122,611,861 (GRCm39) T389K probably damaging Het
Slf1 T A 13: 77,191,999 (GRCm39) H945L probably benign Het
Slit3 T C 11: 35,523,549 (GRCm39) S662P probably damaging Het
Snta1 C A 2: 154,218,938 (GRCm39) E466* probably null Het
Sowaha A G 11: 53,369,272 (GRCm39) L488P probably damaging Het
Spata17 C A 1: 186,926,208 (GRCm39) V41F probably damaging Het
Spta1 T A 1: 174,045,429 (GRCm39) probably null Het
Srrm2 T A 17: 24,034,362 (GRCm39) probably benign Het
Stard13 T C 5: 150,985,992 (GRCm39) N388S probably benign Het
Stmn3 T C 2: 180,950,630 (GRCm39) K59E probably damaging Het
Sval1 A G 6: 41,932,378 (GRCm39) N76S probably benign Het
Svep1 T C 4: 58,096,276 (GRCm39) H1448R possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Sytl5 C T X: 9,781,841 (GRCm39) P181L possibly damaging Het
Tbkbp1 G A 11: 97,029,956 (GRCm39) S400L probably benign Het
Tesc G T 5: 118,194,531 (GRCm39) probably benign Het
Tjp1 C T 7: 64,993,475 (GRCm39) G33R probably damaging Het
Tlr11 C A 14: 50,600,346 (GRCm39) F777L probably benign Het
Tmem156 A G 5: 65,248,805 (GRCm39) probably benign Het
Top3a A G 11: 60,643,204 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,694,584 (GRCm39) W162R probably damaging Het
Tpd52l2 A T 2: 181,157,005 (GRCm39) probably benign Het
Trim80 G A 11: 115,337,281 (GRCm39) G381D probably damaging Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r117 TC T 17: 23,698,487 (GRCm39) probably null Het
Vmn2r56 T A 7: 12,449,462 (GRCm39) I259F possibly damaging Het
Vmn2r59 T C 7: 41,693,077 (GRCm39) T508A probably benign Het
Wdr73 A G 7: 80,541,456 (GRCm39) V362A probably damaging Het
Zdhhc21 G T 4: 82,738,568 (GRCm39) T207K possibly damaging Het
Zfp120 T A 2: 149,959,872 (GRCm39) Q150L probably damaging Het
Zfp212 C A 6: 47,908,433 (GRCm39) Q471K possibly damaging Het
Zfp804b C T 5: 6,820,540 (GRCm39) G841D possibly damaging Het
Znfx1 A T 2: 166,878,724 (GRCm39) M1884K probably damaging Het
Znfx1 G T 2: 166,879,402 (GRCm39) A1658D 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
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'- GACAACTGTGCCCAATTTGG -3'
(R):5'- CTCTGCTTTTGGAAGGTCAGC -3'

Sequencing Primer
(F):5'- CCCAATTTGGCATCAATGACATGG -3'
(R):5'- TGGAAGGTCAGCTTGCTAATAC -3'
Posted On 2016-04-15