Incidental Mutation 'R1493:Cep44'
ID165555
Institutional Source Beutler Lab
Gene Symbol Cep44
Ensembl Gene ENSMUSG00000038215
Gene Namecentrosomal protein 44
Synonyms4933440G23Rik, BC088983
MMRRC Submission 039544-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.824) question?
Stock #R1493 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location56531522-56551047 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56532835 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 299 (S299P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040330]
Predicted Effect probably damaging
Transcript: ENSMUST00000040330
AA Change: S341P

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042586
Gene: ENSMUSG00000038215
AA Change: S341P

DomainStartEndE-ValueType
Pfam:CEP44 5 131 2.5e-52 PFAM
coiled coil region 232 263 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000123493
AA Change: S299P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116884
Gene: ENSMUSG00000038215
AA Change: S299P

DomainStartEndE-ValueType
Pfam:CEP44 1 73 3.3e-31 PFAM
coiled coil region 173 204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211049
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,876,718 S14P probably damaging Het
Abca15 A T 7: 120,382,290 D989V probably benign Het
Abcg8 T C 17: 84,696,679 S472P probably damaging Het
Ablim2 T C 5: 35,809,261 F178S probably damaging Het
Adprm A G 11: 67,041,876 V69A possibly damaging Het
Ankrd27 C T 7: 35,608,365 S343L probably benign Het
Arfgef3 A G 10: 18,630,879 S833P probably damaging Het
Arhgap42 T G 9: 9,030,797 E339D probably benign Het
Axdnd1 T A 1: 156,346,701 M799L probably benign Het
Cars2 A T 8: 11,517,817 probably null Het
Cd7 T C 11: 121,038,141 T95A probably damaging Het
Cep290 A T 10: 100,562,181 T2200S probably benign Het
Cfap58 C T 19: 47,988,504 H731Y probably damaging Het
Ehbp1 T A 11: 22,006,866 E1204V probably damaging Het
Fam129a T A 1: 151,706,090 V479D probably damaging Het
Fam208a A G 14: 27,449,969 S425G probably damaging Het
Fgd5 A G 6: 91,987,631 K124E probably benign Het
Folh1 T C 7: 86,761,730 D268G probably damaging Het
Gm4559 A T 7: 142,274,313 C17* probably null Het
Gm9833 A G 3: 10,088,884 K238E probably damaging Het
Helz A G 11: 107,613,925 I413V probably benign Het
Hexdc A G 11: 121,221,267 I438V probably benign Het
Hrh1 G A 6: 114,480,877 G373D probably damaging Het
Hs3st5 G A 10: 36,832,874 G135D probably damaging Het
Iqcf6 T C 9: 106,627,442 Y102H probably benign Het
Kmt2a A T 9: 44,846,905 S1124R probably damaging Het
Map3k5 A G 10: 20,029,113 D387G probably damaging Het
Morc2a A G 11: 3,678,557 N337D probably benign Het
Musk C T 4: 58,354,003 A352V probably benign Het
Nans G A 4: 46,500,761 E218K probably damaging Het
Ninl T G 2: 150,980,095 D29A probably damaging Het
Nod1 A G 6: 54,944,056 F426L probably damaging Het
Notch4 T A 17: 34,567,682 C265* probably null Het
Nsd3 A G 8: 25,713,380 D1307G probably benign Het
Olfr555 T C 7: 102,659,013 L64P probably damaging Het
Olfr670 T A 7: 104,960,502 T77S probably damaging Het
Orai3 G A 7: 127,773,905 V193M possibly damaging Het
Prkag1 T C 15: 98,813,670 Y271C probably benign Het
Rfc4 T C 16: 23,118,008 I116V probably damaging Het
Ric1 T C 19: 29,579,849 Y445H probably benign Het
Rnmt G A 18: 68,313,707 D268N probably damaging Het
Rsph1 C T 17: 31,265,899 G139D probably damaging Het
Sez6l2 C A 7: 126,961,812 P483Q probably damaging Het
Sgo2b A G 8: 63,926,855 L981P probably damaging Het
Shmt2 A G 10: 127,518,943 probably null Het
Sorbs3 T C 14: 70,192,627 T353A possibly damaging Het
Stk25 T C 1: 93,625,600 T260A probably benign Het
Thap12 A G 7: 98,715,438 H271R probably benign Het
Tmprss13 A G 9: 45,336,107 T256A probably benign Het
Tpo A T 12: 30,131,809 I29N possibly damaging Het
Trpc2 A T 7: 102,090,576 N569I probably damaging Het
Unc13c T C 9: 73,639,068 T1607A probably benign Het
Vldlr A G 19: 27,241,291 N514S probably benign Het
Vps18 A G 2: 119,297,132 Y812C probably damaging Het
Zfp692 A T 11: 58,314,040 I409F probably damaging Het
Zfp735 G A 11: 73,710,479 C83Y possibly damaging Het
Zic1 A G 9: 91,364,756 S88P probably damaging Het
Other mutations in Cep44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Cep44 APN 8 56547400 missense probably damaging 1.00
IGL02932:Cep44 APN 8 56547424 missense probably damaging 1.00
R0347:Cep44 UTSW 8 56545475 missense probably damaging 1.00
R0609:Cep44 UTSW 8 56544152 missense possibly damaging 0.79
R0669:Cep44 UTSW 8 56540973 missense possibly damaging 0.74
R1449:Cep44 UTSW 8 56540950 missense probably benign 0.01
R4114:Cep44 UTSW 8 56545422 missense probably benign 0.25
R4422:Cep44 UTSW 8 56538617 missense probably benign 0.00
R4423:Cep44 UTSW 8 56538617 missense probably benign 0.00
R4425:Cep44 UTSW 8 56538617 missense probably benign 0.00
R4621:Cep44 UTSW 8 56542916 missense probably damaging 0.99
R5017:Cep44 UTSW 8 56544207 missense possibly damaging 0.86
R5190:Cep44 UTSW 8 56532796 missense probably benign 0.05
R5898:Cep44 UTSW 8 56541021 missense probably damaging 1.00
R5938:Cep44 UTSW 8 56547422 missense possibly damaging 0.93
R6080:Cep44 UTSW 8 56539841 missense possibly damaging 0.50
R6150:Cep44 UTSW 8 56539805 missense probably benign 0.39
R7016:Cep44 UTSW 8 56544199 missense possibly damaging 0.89
R7141:Cep44 UTSW 8 56539851 missense probably damaging 1.00
R7466:Cep44 UTSW 8 56540983 frame shift probably null
R7753:Cep44 UTSW 8 56532807 missense probably benign 0.16
R7841:Cep44 UTSW 8 56540983 frame shift probably null
R7924:Cep44 UTSW 8 56540983 frame shift probably null
Z1176:Cep44 UTSW 8 56544128 missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- CCTACAGAGCAATGGCTTCTCTCAC -3'
(R):5'- accacagagcccAAAGGCATTC -3'

Sequencing Primer
(F):5'- CAGACCCCTTGAGAGATTACATTTG -3'
(R):5'- cagagcccAAAGGCATTCTAAAAC -3'
Posted On2014-03-28