Incidental Mutation 'R1676:Cemip'
ID 188072
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 039712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1676 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 83582065-83735710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83613246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 651 (I651F)
Ref Sequence ENSEMBL: ENSMUSP00000063277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064174]
AlphaFold Q8BI06
Predicted Effect possibly damaging
Transcript: ENSMUST00000064174
AA Change: I651F

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: I651F

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: ENSMUST00000147578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150495
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G T 11: 58,771,819 (GRCm39) A434S possibly damaging Het
Abhd8 T A 8: 71,914,517 (GRCm39) D37V probably damaging Het
Acvr2a G A 2: 48,763,095 (GRCm39) S97N probably benign Het
Ampd3 T A 7: 110,394,940 (GRCm39) H296Q probably damaging Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Cap2 T G 13: 46,791,335 (GRCm39) H167Q probably damaging Het
Car8 A G 4: 8,185,616 (GRCm39) L180S probably damaging Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Cavin2 T A 1: 51,340,330 (GRCm39) S336T probably benign Het
Cdc14b A T 13: 64,373,416 (GRCm39) I119N possibly damaging Het
Cfap57 T A 4: 118,453,137 (GRCm39) D522V probably damaging Het
Clrn3 A T 7: 135,120,307 (GRCm39) V93D probably damaging Het
Crppa T C 12: 36,526,720 (GRCm39) C170R probably benign Het
Cyp4f39 A G 17: 32,701,176 (GRCm39) D222G probably benign Het
D5Ertd579e A G 5: 36,773,453 (GRCm39) V314A probably benign Het
Dchs1 C T 7: 105,404,128 (GRCm39) V2805I probably benign Het
Dsp A T 13: 38,377,350 (GRCm39) K1712* probably null Het
Emilin2 T C 17: 71,581,085 (GRCm39) D547G probably benign Het
Erbb3 T C 10: 128,419,117 (GRCm39) H248R probably benign Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Fbn1 T C 2: 125,151,701 (GRCm39) T2518A probably damaging Het
Fzd2 G A 11: 102,496,707 (GRCm39) V384M probably damaging Het
Gpc5 T A 14: 115,607,510 (GRCm39) S371T probably damaging Het
Hbb-bh2 T C 7: 103,488,362 (GRCm39) K145R probably null Het
Hectd1 G T 12: 51,791,571 (GRCm39) P2558Q probably damaging Het
Hgsnat C T 8: 26,444,633 (GRCm39) probably null Het
Hirip3 T C 7: 126,462,647 (GRCm39) probably null Het
Itpkc T C 7: 26,907,706 (GRCm39) D666G probably damaging Het
Jmjd1c T A 10: 67,060,588 (GRCm39) D693E probably benign Het
Katnbl1 T C 2: 112,236,454 (GRCm39) L60P probably damaging Het
Kcna1 T A 6: 126,619,645 (GRCm39) E225V probably damaging Het
Kcnj6 T A 16: 94,633,443 (GRCm39) M223L probably damaging Het
Kcnk7 G T 19: 5,757,006 (GRCm39) V332F probably benign Het
Kmt5a GAA GA 5: 124,597,948 (GRCm39) probably null Het
Mdga2 C A 12: 66,615,546 (GRCm39) G618V probably damaging Het
Mdga2 C A 12: 66,615,547 (GRCm39) G618* probably null Het
Morc2b T C 17: 33,354,955 (GRCm39) E939G possibly damaging Het
Mstn T A 1: 53,101,224 (GRCm39) D100E probably benign Het
Mthfd1l G A 10: 4,033,877 (GRCm39) probably null Het
Muc20 T A 16: 32,614,649 (GRCm39) T243S probably damaging Het
Myo1d A T 11: 80,575,247 (GRCm39) N156K probably damaging Het
Myo7a A G 7: 97,748,679 (GRCm39) probably null Het
Naa35 A T 13: 59,760,490 (GRCm39) Q274L probably damaging Het
Ncam1 G A 9: 49,468,472 (GRCm39) T329I probably damaging Het
Nisch T C 14: 30,902,859 (GRCm39) probably benign Het
Nlrp1b A T 11: 71,073,637 (GRCm39) W69R probably benign Het
Nrap T A 19: 56,323,687 (GRCm39) H1294L probably damaging Het
Nsun6 T A 2: 15,052,024 (GRCm39) R56* probably null Het
Nudt1 A G 5: 140,320,378 (GRCm39) probably null Het
Nxph4 T G 10: 127,362,077 (GRCm39) K271N probably damaging Het
Or1af1 A T 2: 37,109,653 (GRCm39) R51* probably null Het
Or4a66 T G 2: 88,531,661 (GRCm39) H4P probably benign Het
Or51e2 T A 7: 102,391,605 (GRCm39) I202F probably damaging Het
Or52a20 T C 7: 103,366,319 (GRCm39) W173R probably benign Het
Otud6b T A 4: 14,825,617 (GRCm39) N71I probably damaging Het
Parp8 T A 13: 117,014,064 (GRCm39) D623V probably damaging Het
Pcdhb5 T C 18: 37,453,805 (GRCm39) S62P probably benign Het
Ppp1r12b A G 1: 134,705,190 (GRCm39) S833P probably damaging Het
Ppp1r1a T G 15: 103,441,915 (GRCm39) D51A probably damaging Het
Prag1 C A 8: 36,570,052 (GRCm39) P212T probably damaging Het
Prxl2b C T 4: 154,981,520 (GRCm39) V186I probably benign Het
Ptdss1 A G 13: 67,081,701 (GRCm39) T44A probably damaging Het
Rab14 T C 2: 35,076,735 (GRCm39) H83R possibly damaging Het
Rapgef3 C T 15: 97,659,063 (GRCm39) G101E probably benign Het
Rimbp3 T A 16: 17,028,977 (GRCm39) D800E probably benign Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Selenbp1 A G 3: 94,851,854 (GRCm39) D465G probably damaging Het
Slc28a2b T C 2: 122,352,340 (GRCm39) S366P probably damaging Het
Slc29a1 T C 17: 45,899,936 (GRCm39) D251G probably damaging Het
Slc6a11 G T 6: 114,224,627 (GRCm39) V604F probably benign Het
Sltm T A 9: 70,480,929 (GRCm39) D260E probably damaging Het
Spta1 G A 1: 174,007,405 (GRCm39) V212M probably damaging Het
St6gal2 T C 17: 55,803,396 (GRCm39) probably null Het
Tc2n A G 12: 101,655,251 (GRCm39) S235P probably damaging Het
Tenm3 T A 8: 48,870,154 (GRCm39) N213I possibly damaging Het
Ticam2 T C 18: 46,693,677 (GRCm39) T137A probably damaging Het
Ttn TCCC TCCCC 2: 76,573,251 (GRCm39) probably null Het
Tyk2 G A 9: 21,026,545 (GRCm39) Q684* probably null Het
Ubqln1 A G 13: 58,327,205 (GRCm39) F478S possibly damaging Het
Uckl1 G A 2: 181,216,711 (GRCm39) T78I probably damaging Het
Uhmk1 A G 1: 170,027,581 (GRCm39) V372A probably damaging Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Ush2a T C 1: 188,460,782 (GRCm39) L2681P probably damaging Het
Vmn2r1 C T 3: 63,997,603 (GRCm39) Q420* probably null Het
Vmn2r101 A T 17: 19,832,184 (GRCm39) T727S probably benign Het
Vmn2r79 A G 7: 86,651,839 (GRCm39) T413A probably benign Het
Vps13c T C 9: 67,834,244 (GRCm39) V1637A probably benign Het
Xpc A G 6: 91,469,929 (GRCm39) V765A possibly damaging Het
Zbtb18 T G 1: 177,274,913 (GRCm39) probably null Het
Zfp712 A T 13: 67,200,400 (GRCm39) D28E probably benign Het
Zfp735 A G 11: 73,602,301 (GRCm39) N415S possibly 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
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
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'- TACCTCACTCTGAGAAGCAGGCAG -3'
(R):5'- CACAAGCTTAGTCTCCCCTTGAACC -3'

Sequencing Primer
(F):5'- GGCAGAGGTGAGCATCTTG -3'
(R):5'- GGTGCTGAGTAAAACTCCTGTC -3'
Posted On 2014-05-09