Incidental Mutation 'R2513:Cemip'
ID 253613
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 040419-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2513 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 83582065-83735710 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 83591233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1280 (V1280L)
Ref Sequence ENSEMBL: ENSMUSP00000063277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064174]
AlphaFold Q8BI06
Predicted Effect probably benign
Transcript: ENSMUST00000064174
AA Change: V1280L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000063277
Gene: ENSMUSG00000052353
AA Change: V1280L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,383,809 (GRCm39) T719A possibly damaging Het
Abcc1 A G 16: 14,290,873 (GRCm39) probably null Het
Aftph C T 11: 20,658,676 (GRCm39) probably null Het
Als2 C A 1: 59,254,276 (GRCm39) K360N probably benign Het
Atg2a T A 19: 6,308,076 (GRCm39) probably null Het
Axl T C 7: 25,486,941 (GRCm39) D22G probably benign Het
Baiap2 G A 11: 119,890,052 (GRCm39) A438T probably benign Het
Bean1 G C 8: 104,908,643 (GRCm39) A7P probably benign Het
Birc6 C G 17: 74,954,724 (GRCm39) P3431R probably damaging Het
Camk1d A G 2: 5,719,047 (GRCm39) M1T probably null Het
Carmil3 T C 14: 55,741,295 (GRCm39) Y1027H probably damaging Het
Ccdc6 G A 10: 70,023,658 (GRCm39) probably benign Het
Cfap58 C A 19: 47,950,981 (GRCm39) N447K probably benign Het
Chd3 A G 11: 69,251,471 (GRCm39) L520P probably damaging Het
Col1a2 T A 6: 4,531,223 (GRCm39) probably null Het
Cpne7 A C 8: 123,844,406 (GRCm39) probably null Het
Ctla4 T C 1: 60,951,723 (GRCm39) V84A probably damaging Het
Dap3 A G 3: 88,835,565 (GRCm39) V263A probably benign Het
Dhx57 T A 17: 80,549,378 (GRCm39) probably null Het
Dlg5 C A 14: 24,214,593 (GRCm39) K663N probably damaging Het
Dsg3 C A 18: 20,656,719 (GRCm39) F196L possibly damaging Het
Eif2ak4 C A 2: 118,257,064 (GRCm39) D402E probably damaging Het
Fance T C 17: 28,537,068 (GRCm39) V24A probably benign Het
Fasn A T 11: 120,705,574 (GRCm39) L1149Q probably damaging Het
Fcgbpl1 C G 7: 27,831,060 (GRCm39) S91C probably damaging Het
Flg T A 3: 93,187,093 (GRCm39) S182T possibly damaging Het
Gm128 T A 3: 95,147,293 (GRCm39) S334C possibly damaging Het
Gm3727 A C 14: 7,264,561 (GRCm38) H31Q probably damaging Het
Gm4841 T G 18: 60,403,977 (GRCm39) T39P probably damaging Het
Golgb1 G T 16: 36,735,513 (GRCm39) V1587L possibly damaging Het
Golm1 G A 13: 59,790,072 (GRCm39) P243S probably benign Het
Gstcd C A 3: 132,788,081 (GRCm39) A206S possibly damaging Het
Gstcd C A 3: 132,788,082 (GRCm39) K205N possibly damaging Het
Gtf3c1 A G 7: 125,280,345 (GRCm39) V355A probably benign Het
Hhatl T C 9: 121,618,236 (GRCm39) D173G probably benign Het
Kcnu1 T A 8: 26,395,994 (GRCm39) C660S probably benign Het
Kctd8 T C 5: 69,267,988 (GRCm39) D374G probably benign Het
Kif21a T C 15: 90,878,594 (GRCm39) I229V possibly damaging Het
L3mbtl1 A T 2: 162,809,505 (GRCm39) I702F probably benign Het
Lce1d T C 3: 92,593,066 (GRCm39) probably benign Het
Lrig1 C T 6: 94,594,347 (GRCm39) probably null Het
Lrp12 A T 15: 39,739,507 (GRCm39) D563E probably damaging Het
Lrp2 C T 2: 69,336,718 (GRCm39) probably null Het
Map3k5 G A 10: 19,970,201 (GRCm39) V703I possibly damaging Het
Mecr A G 4: 131,581,076 (GRCm39) R110G probably benign Het
Mtrr T A 13: 68,715,092 (GRCm39) K445* probably null Het
Nanos1 T A 19: 60,744,990 (GRCm39) L96Q probably benign Het
Or13a24 T G 7: 140,154,069 (GRCm39) M1R probably null Het
Or51t4 T A 7: 102,598,700 (GRCm39) F333I probably benign Het
Or6c214 T A 10: 129,591,021 (GRCm39) L99F probably damaging Het
Otog T C 7: 45,955,014 (GRCm39) probably null Het
Pcdhb3 G T 18: 37,434,294 (GRCm39) V87F probably benign Het
Pcdhb3 T A 18: 37,434,292 (GRCm39) L86* probably null Het
Pcdhb3 A T 18: 37,434,293 (GRCm39) L86F probably damaging Het
Pdgfd A G 9: 6,359,894 (GRCm39) K322E probably damaging Het
Picalm T C 7: 89,846,217 (GRCm39) S648P probably damaging Het
Pigr T C 1: 130,774,357 (GRCm39) S446P possibly damaging Het
Pik3cb A C 9: 98,943,895 (GRCm39) L636W probably damaging Het
Pla2g2f A T 4: 138,481,473 (GRCm39) L92Q probably damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Prkar2b C T 12: 32,025,928 (GRCm39) V191I possibly damaging Het
Prune1 C A 3: 95,165,430 (GRCm39) A281S probably benign Het
Ptges3l A T 11: 101,314,868 (GRCm39) C42S possibly damaging Het
Reg3b A T 6: 78,348,802 (GRCm39) I33L probably benign Het
Rel A G 11: 23,695,823 (GRCm39) I188T probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor1 G T 8: 106,344,254 (GRCm39) V463L probably benign Het
Rrm1 T A 7: 102,109,896 (GRCm39) D510E probably damaging Het
Setd7 A G 3: 51,440,436 (GRCm39) S202P probably damaging Het
Shank3 T A 15: 89,432,889 (GRCm39) D1211E probably benign Het
Slc30a1 A T 1: 191,639,674 (GRCm39) T186S possibly damaging Het
Slc4a4 G A 5: 89,304,257 (GRCm39) V523I probably benign Het
Slc9a2 T A 1: 40,781,768 (GRCm39) probably null Het
Smg6 A G 11: 74,820,502 (GRCm39) T258A probably damaging Het
Sptlc1 C T 13: 53,491,676 (GRCm39) D408N possibly damaging Het
Tasor2 G T 13: 3,632,150 (GRCm39) L784I possibly damaging Het
Tbl3 T C 17: 24,923,524 (GRCm39) probably null Het
Tdo2 T C 3: 81,876,812 (GRCm39) D139G possibly damaging Het
Ticam1 T A 17: 56,578,612 (GRCm39) H161L possibly damaging Het
Tnfaip3 T A 10: 18,881,407 (GRCm39) D293V probably benign Het
Trim72 G A 7: 127,603,878 (GRCm39) V75M possibly damaging Het
Trip11 T A 12: 101,803,986 (GRCm39) N1632I possibly damaging Het
Tspan18 A T 2: 93,050,440 (GRCm39) M61K possibly damaging Het
Tuba8 A T 6: 121,202,932 (GRCm39) E415V probably damaging Het
Ung A G 5: 114,275,253 (GRCm39) H214R probably benign Het
Uqcrc1 T C 9: 108,765,836 (GRCm39) L17P probably damaging Het
Usp24 A G 4: 106,236,602 (GRCm39) probably null Het
Vps39 A C 2: 120,169,268 (GRCm39) Y245D probably damaging Het
Whrn T A 4: 63,353,649 (GRCm39) T373S probably benign Het
Zc2hc1a C T 3: 7,581,596 (GRCm39) probably null 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
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'- AAGTTCTCTCCACCCAGTAGAC -3'
(R):5'- GCAGCTGTGTAACCAAACTATG -3'

Sequencing Primer
(F):5'- GTAGACACACACAATCTGTAGGC -3'
(R):5'- GTGTCTACATAGGAAGGATACCTAC -3'
Posted On 2014-12-04