Incidental Mutation 'R4114:Cep44'
ID 314553
Institutional Source Beutler Lab
Gene Symbol Cep44
Ensembl Gene ENSMUSG00000038215
Gene Name centrosomal protein 44
Synonyms 4933440G23Rik, BC088983
MMRRC Submission 040990-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.803) question?
Stock # R4114 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 56984557-57004082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56998457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 74 (T74A)
Ref Sequence ENSEMBL: ENSMUSP00000042586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040330] [ENSMUST00000130930] [ENSMUST00000134162] [ENSMUST00000135337] [ENSMUST00000140107]
AlphaFold Q5HZK1
Predicted Effect probably benign
Transcript: ENSMUST00000040330
AA Change: T74A

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000042586
Gene: ENSMUSG00000038215
AA Change: T74A

DomainStartEndE-ValueType
Pfam:CEP44 5 131 2.5e-52 PFAM
coiled coil region 232 263 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000123493
AA Change: T15A
SMART Domains Protein: ENSMUSP00000116884
Gene: ENSMUSG00000038215
AA Change: T15A

DomainStartEndE-ValueType
Pfam:CEP44 1 73 3.3e-31 PFAM
coiled coil region 173 204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127877
Predicted Effect probably benign
Transcript: ENSMUST00000130930
SMART Domains Protein: ENSMUSP00000118959
Gene: ENSMUSG00000038215

DomainStartEndE-ValueType
Pfam:CEP44 5 63 3.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134162
AA Change: T74A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000117526
Gene: ENSMUSG00000038215
AA Change: T74A

DomainStartEndE-ValueType
Pfam:CEP44 5 102 9.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135337
AA Change: T74A

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122835
Gene: ENSMUSG00000038215
AA Change: T74A

DomainStartEndE-ValueType
Pfam:CEP44 5 80 1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140107
AA Change: T74A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000114502
Gene: ENSMUSG00000038215
AA Change: T74A

DomainStartEndE-ValueType
Pfam:CEP44 5 136 1.7e-53 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T G 11: 117,693,793 (GRCm39) S87A probably damaging Het
Abca16 T C 7: 120,126,290 (GRCm39) F1149L probably benign Het
Abcf1 A T 17: 36,270,146 (GRCm39) D637E probably benign Het
Ankrd34c A G 9: 89,611,927 (GRCm39) L138P probably damaging Het
Cdh23 A G 10: 60,256,819 (GRCm39) probably null Het
Colq T A 14: 31,279,824 (GRCm39) M1L probably benign Het
Cym A T 3: 107,127,065 (GRCm39) L30Q probably damaging Het
Dpp6 T A 5: 27,674,485 (GRCm39) probably null Het
Gbe1 G T 16: 70,280,715 (GRCm39) G372V possibly damaging Het
Hdc T A 2: 126,443,738 (GRCm39) M314L probably benign Het
Ino80b A G 6: 83,101,121 (GRCm39) S149P probably benign Het
Itpr2 C T 6: 146,327,008 (GRCm39) V120I probably damaging Het
Morc3 G A 16: 93,670,227 (GRCm39) D801N probably benign Het
Mpped1 A G 15: 83,680,910 (GRCm39) probably benign Het
Nek5 G A 8: 22,601,178 (GRCm39) T181M probably damaging Het
Nlrp4a T G 7: 26,149,365 (GRCm39) F324C probably damaging Het
Nop56 T C 2: 130,118,593 (GRCm39) probably null Het
Or6c6c T C 10: 129,541,668 (GRCm39) L307S probably benign Het
Or8u9 A T 2: 86,001,759 (GRCm39) V134D possibly damaging Het
Pcdhb3 A G 18: 37,435,093 (GRCm39) N353S probably benign Het
Pde8a T A 7: 80,932,555 (GRCm39) probably null Het
Pramel29 A T 4: 143,936,173 (GRCm39) L29H probably damaging Het
Ryr2 C T 13: 11,707,568 (GRCm39) R2823H probably damaging Het
Scart2 T C 7: 139,877,823 (GRCm39) V935A probably damaging Het
Sec22a A G 16: 35,139,202 (GRCm39) F232S probably damaging Het
Slc7a1 T C 5: 148,278,867 (GRCm39) T302A probably damaging Het
Sult2a2 A T 7: 13,468,708 (GRCm39) Q58L probably benign Het
Tek T C 4: 94,737,920 (GRCm39) S657P probably damaging Het
Trim5 A G 7: 103,914,947 (GRCm39) L374P probably damaging Het
Tspan18 C A 2: 93,142,291 (GRCm39) probably null Het
Vmn2r37 T A 7: 9,213,092 (GRCm39) probably null Het
Zbbx T C 3: 75,046,905 (GRCm39) T121A probably benign Het
Zfp35 A C 18: 24,135,766 (GRCm39) I37L probably benign Het
Other mutations in Cep44
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Cep44 APN 8 57,000,435 (GRCm39) missense probably damaging 1.00
IGL02932:Cep44 APN 8 57,000,459 (GRCm39) missense probably damaging 1.00
R0347:Cep44 UTSW 8 56,998,510 (GRCm39) missense probably damaging 1.00
R0609:Cep44 UTSW 8 56,997,187 (GRCm39) missense possibly damaging 0.79
R0669:Cep44 UTSW 8 56,994,008 (GRCm39) missense possibly damaging 0.74
R1449:Cep44 UTSW 8 56,993,985 (GRCm39) missense probably benign 0.01
R1493:Cep44 UTSW 8 56,985,870 (GRCm39) missense probably damaging 1.00
R4422:Cep44 UTSW 8 56,991,652 (GRCm39) missense probably benign 0.00
R4423:Cep44 UTSW 8 56,991,652 (GRCm39) missense probably benign 0.00
R4425:Cep44 UTSW 8 56,991,652 (GRCm39) missense probably benign 0.00
R4621:Cep44 UTSW 8 56,995,951 (GRCm39) missense probably damaging 0.99
R5017:Cep44 UTSW 8 56,997,242 (GRCm39) missense possibly damaging 0.86
R5190:Cep44 UTSW 8 56,985,831 (GRCm39) missense probably benign 0.05
R5898:Cep44 UTSW 8 56,994,056 (GRCm39) missense probably damaging 1.00
R5938:Cep44 UTSW 8 57,000,457 (GRCm39) missense possibly damaging 0.93
R6080:Cep44 UTSW 8 56,992,876 (GRCm39) missense possibly damaging 0.50
R6150:Cep44 UTSW 8 56,992,840 (GRCm39) missense probably benign 0.39
R7016:Cep44 UTSW 8 56,997,234 (GRCm39) missense possibly damaging 0.89
R7141:Cep44 UTSW 8 56,992,886 (GRCm39) missense probably damaging 1.00
R7466:Cep44 UTSW 8 56,994,018 (GRCm39) frame shift probably null
R7753:Cep44 UTSW 8 56,985,842 (GRCm39) missense probably benign 0.16
R7841:Cep44 UTSW 8 56,994,018 (GRCm39) frame shift probably null
Z1176:Cep44 UTSW 8 56,997,163 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- GCACACGCTGATATTTCCCAAC -3'
(R):5'- ACCAAGTTATTGACAACACTGCTAG -3'

Sequencing Primer
(F):5'- TGATATTTCCCAACGATAAAACTGCC -3'
(R):5'- GCTAGTTATCCTTAATCACCCAGG -3'
Posted On 2015-05-14