Incidental Mutation 'R7253:Cntln'
ID 564057
Institutional Source Beutler Lab
Gene Symbol Cntln
Ensembl Gene ENSMUSG00000038070
Gene Name centlein, centrosomal protein
Synonyms D530005L17Rik, B430108F07Rik
MMRRC Submission 045314-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R7253 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 84802546-85050158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85036710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 214 (N214I)
Ref Sequence ENSEMBL: ENSMUSP00000102808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047023] [ENSMUST00000107190] [ENSMUST00000169371]
AlphaFold A2AM05
Predicted Effect probably damaging
Transcript: ENSMUST00000047023
AA Change: N1349I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: N1349I

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
low complexity region 58 86 N/A INTRINSIC
coiled coil region 96 126 N/A INTRINSIC
internal_repeat_1 198 219 1.25e-5 PROSPERO
low complexity region 242 251 N/A INTRINSIC
internal_repeat_1 321 342 1.25e-5 PROSPERO
low complexity region 346 358 N/A INTRINSIC
coiled coil region 404 433 N/A INTRINSIC
low complexity region 434 446 N/A INTRINSIC
coiled coil region 458 481 N/A INTRINSIC
coiled coil region 516 584 N/A INTRINSIC
coiled coil region 606 648 N/A INTRINSIC
coiled coil region 674 780 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
coiled coil region 973 1114 N/A INTRINSIC
low complexity region 1206 1217 N/A INTRINSIC
Blast:HisKA 1270 1326 1e-24 BLAST
low complexity region 1327 1348 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107190
AA Change: N214I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102808
Gene: ENSMUSG00000038070
AA Change: N214I

DomainStartEndE-ValueType
low complexity region 71 82 N/A INTRINSIC
Blast:HisKA 135 191 8e-27 BLAST
low complexity region 192 213 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169371
AA Change: N1348I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: N1348I

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
low complexity region 58 86 N/A INTRINSIC
coiled coil region 96 126 N/A INTRINSIC
internal_repeat_1 198 219 1.24e-5 PROSPERO
low complexity region 242 251 N/A INTRINSIC
internal_repeat_1 321 342 1.24e-5 PROSPERO
low complexity region 346 358 N/A INTRINSIC
coiled coil region 404 433 N/A INTRINSIC
low complexity region 434 446 N/A INTRINSIC
coiled coil region 458 481 N/A INTRINSIC
coiled coil region 516 584 N/A INTRINSIC
coiled coil region 606 648 N/A INTRINSIC
coiled coil region 674 780 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
coiled coil region 972 1113 N/A INTRINSIC
low complexity region 1205 1216 N/A INTRINSIC
Blast:HisKA 1269 1325 1e-24 BLAST
low complexity region 1326 1347 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,451,391 (GRCm39) H199R not run Het
Ak9 A G 10: 41,308,480 (GRCm39) N1804S unknown Het
Akr1c21 C A 13: 4,627,139 (GRCm39) T147N probably damaging Het
Aldh1a2 A G 9: 71,123,216 (GRCm39) T30A probably benign Het
Alox15 T C 11: 70,236,724 (GRCm39) D447G probably damaging Het
Amigo2 T C 15: 97,142,956 (GRCm39) I489V probably benign Het
Ano9 A T 7: 140,687,350 (GRCm39) Y322N probably damaging Het
Arhgap40 G T 2: 158,389,576 (GRCm39) W583L probably benign Het
Atxn2 A G 5: 121,916,084 (GRCm39) E430G probably damaging Het
Brip1 T C 11: 86,034,104 (GRCm39) Y539C possibly damaging Het
C87436 T A 6: 86,442,790 (GRCm39) L454Q probably damaging Het
Casp4 T G 9: 5,324,868 (GRCm39) Y227D probably benign Het
Ccn6 T G 10: 39,031,031 (GRCm39) N164T probably benign Het
Chd4 T A 6: 125,083,555 (GRCm39) probably null Het
Chrna10 A G 7: 101,761,293 (GRCm39) C433R probably benign Het
Colec12 G A 18: 9,848,922 (GRCm39) V367I probably damaging Het
Cyp46a1 T C 12: 108,318,255 (GRCm39) I222T probably benign Het
Dagla A T 19: 10,239,945 (GRCm39) probably null Het
Dcaf7 C A 11: 105,938,669 (GRCm39) probably null Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
E2f7 A G 10: 110,602,164 (GRCm39) probably null Het
Fam184a G T 10: 53,574,901 (GRCm39) T236K probably benign Het
Glyctk T C 9: 106,032,661 (GRCm39) T451A probably damaging Het
Hectd4 A G 5: 121,452,944 (GRCm39) K484E possibly damaging Het
Hspbap1 G T 16: 35,637,600 (GRCm39) C243F unknown Het
Hspg2 A C 4: 137,247,257 (GRCm39) N1160T probably benign Het
Ighv5-8 C T 12: 113,618,728 (GRCm39) L48F probably benign Het
Jazf1 C A 6: 52,754,637 (GRCm39) E146D probably benign Het
Katnb1 C T 8: 95,822,125 (GRCm39) Q284* probably null Het
Kctd18 G T 1: 58,001,115 (GRCm39) Y213* probably null Het
Klk1b26 T C 7: 43,664,213 (GRCm39) S23P possibly damaging Het
Krt88 T C 15: 101,348,392 (GRCm39) L26P probably damaging Het
Lrrc8b G A 5: 105,629,522 (GRCm39) V623I probably benign Het
Map3k4 T A 17: 12,490,955 (GRCm39) M159L probably benign Het
Mast3 C A 8: 71,242,326 (GRCm39) probably null Het
Mier1 G A 4: 102,996,544 (GRCm39) probably null Het
Mrpl46 T C 7: 78,431,207 (GRCm39) D117G probably damaging Het
Ms4a6b A G 19: 11,497,760 (GRCm39) S20G probably benign Het
Mup10 A T 4: 60,538,077 (GRCm39) M4K unknown Het
Nlrp5 C T 7: 23,116,816 (GRCm39) A180V possibly damaging Het
Nlrx1 T A 9: 44,176,001 (GRCm39) probably null Het
Odad3 T C 9: 21,913,767 (GRCm39) T2A probably damaging Het
Or2a52 T C 6: 43,144,744 (GRCm39) F251L probably damaging Het
Or2t45 T C 11: 58,669,822 (GRCm39) Y290H probably damaging Het
Or4c103 T C 2: 88,513,969 (GRCm39) T36A possibly damaging Het
Or51aa2 C T 7: 103,187,995 (GRCm39) A149T probably benign Het
Or5af2 T A 11: 58,708,366 (GRCm39) C177* probably null Het
Or5ak22 A G 2: 85,229,983 (GRCm39) I298T probably benign Het
Otud1 C A 2: 19,663,742 (GRCm39) D290E probably damaging Het
Pank4 A G 4: 155,055,377 (GRCm39) N249S probably benign Het
Pccb G T 9: 100,913,966 (GRCm39) S84R probably benign Het
Pemt A T 11: 59,862,081 (GRCm39) H194Q possibly damaging Het
Phtf2 A G 5: 20,970,856 (GRCm39) I634T possibly damaging Het
Pias2 T G 18: 77,207,811 (GRCm39) I232R probably damaging Het
Plce1 A G 19: 38,686,952 (GRCm39) E620G probably damaging Het
Pramel17 A T 4: 101,692,725 (GRCm39) V425E probably benign Het
Ptpn13 G A 5: 103,713,150 (GRCm39) E1758K possibly damaging Het
Ptprq T A 10: 107,444,134 (GRCm39) Q1490L probably benign Het
Ptx3 G T 3: 66,132,368 (GRCm39) M296I probably benign Het
R3hdm2 C T 10: 127,317,644 (GRCm39) P464L probably damaging Het
Rapgef1 A G 2: 29,589,733 (GRCm39) E258G possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Senp8 T C 9: 59,644,478 (GRCm39) N226S probably benign Het
Six5 C T 7: 18,828,901 (GRCm39) R114C probably damaging Het
Slc10a1 T C 12: 81,004,958 (GRCm39) T195A probably benign Het
Slpi G T 2: 164,197,467 (GRCm39) Q51K probably benign Het
Smarca4 T C 9: 21,570,256 (GRCm39) V753A probably benign Het
Tbc1d32 C A 10: 56,074,537 (GRCm39) M225I probably benign Het
Tent5a C A 9: 85,208,770 (GRCm39) G18C probably benign Het
Tnfrsf21 G A 17: 43,348,558 (GRCm39) V57I probably benign Het
Trim44 G T 2: 102,177,313 (GRCm39) P336T possibly damaging Het
Txlnb A G 10: 17,703,633 (GRCm39) I264V probably damaging Het
Xirp2 A C 2: 67,343,826 (GRCm39) E2022D probably benign Het
Zfp975 A G 7: 42,311,036 (GRCm39) *526R probably null Het
Zp1 A G 19: 10,893,933 (GRCm39) L424P probably damaging Het
Other mutations in Cntln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Cntln APN 4 84,924,671 (GRCm39) missense probably benign 0.25
IGL00743:Cntln APN 4 84,897,652 (GRCm39) missense probably benign 0.06
IGL01014:Cntln APN 4 84,968,145 (GRCm39) missense probably benign 0.25
IGL02217:Cntln APN 4 85,018,495 (GRCm39) missense probably damaging 1.00
IGL02323:Cntln APN 4 84,968,026 (GRCm39) missense probably benign 0.00
IGL02353:Cntln APN 4 84,968,087 (GRCm39) missense probably damaging 0.98
IGL02360:Cntln APN 4 84,968,087 (GRCm39) missense probably damaging 0.98
IGL02616:Cntln APN 4 85,033,689 (GRCm39) critical splice donor site probably null
PIT4696001:Cntln UTSW 4 84,892,237 (GRCm39) missense probably damaging 0.99
R0110:Cntln UTSW 4 85,014,994 (GRCm39) missense probably damaging 1.00
R0324:Cntln UTSW 4 85,010,932 (GRCm39) missense probably damaging 0.98
R0349:Cntln UTSW 4 84,914,722 (GRCm39) missense probably damaging 1.00
R0519:Cntln UTSW 4 84,923,290 (GRCm39) splice site probably benign
R0529:Cntln UTSW 4 84,986,062 (GRCm39) missense probably damaging 1.00
R0582:Cntln UTSW 4 84,802,978 (GRCm39) missense probably damaging 1.00
R1077:Cntln UTSW 4 84,914,716 (GRCm39) missense probably damaging 1.00
R1345:Cntln UTSW 4 84,892,228 (GRCm39) missense probably damaging 1.00
R1457:Cntln UTSW 4 85,015,076 (GRCm39) missense probably benign 0.33
R1571:Cntln UTSW 4 84,865,823 (GRCm39) nonsense probably null
R1622:Cntln UTSW 4 84,981,418 (GRCm39) missense probably damaging 1.00
R1681:Cntln UTSW 4 84,865,872 (GRCm39) missense probably damaging 1.00
R1777:Cntln UTSW 4 85,048,916 (GRCm39) missense probably benign 0.23
R1808:Cntln UTSW 4 85,015,000 (GRCm39) missense probably damaging 1.00
R1882:Cntln UTSW 4 85,019,072 (GRCm39) missense probably damaging 1.00
R2056:Cntln UTSW 4 84,967,911 (GRCm39) missense probably benign
R2965:Cntln UTSW 4 84,892,264 (GRCm39) critical splice donor site probably null
R2968:Cntln UTSW 4 84,875,504 (GRCm39) missense probably benign 0.27
R3104:Cntln UTSW 4 84,875,406 (GRCm39) missense possibly damaging 0.95
R3106:Cntln UTSW 4 84,875,406 (GRCm39) missense possibly damaging 0.95
R3121:Cntln UTSW 4 84,923,289 (GRCm39) splice site probably benign
R3617:Cntln UTSW 4 84,923,214 (GRCm39) nonsense probably null
R4009:Cntln UTSW 4 84,981,452 (GRCm39) missense probably benign 0.45
R4036:Cntln UTSW 4 84,924,725 (GRCm39) missense probably damaging 1.00
R4548:Cntln UTSW 4 85,015,079 (GRCm39) missense probably benign 0.27
R4592:Cntln UTSW 4 84,889,419 (GRCm39) missense probably benign 0.00
R4666:Cntln UTSW 4 84,889,453 (GRCm39) missense probably benign 0.13
R4826:Cntln UTSW 4 84,923,281 (GRCm39) missense probably benign 0.03
R4836:Cntln UTSW 4 84,967,957 (GRCm39) nonsense probably null
R4856:Cntln UTSW 4 84,889,466 (GRCm39) missense probably benign 0.35
R4886:Cntln UTSW 4 84,889,466 (GRCm39) missense probably benign 0.35
R4995:Cntln UTSW 4 84,968,120 (GRCm39) missense probably benign 0.00
R5090:Cntln UTSW 4 84,865,830 (GRCm39) missense probably damaging 0.98
R5202:Cntln UTSW 4 84,889,466 (GRCm39) missense probably benign 0.35
R5905:Cntln UTSW 4 84,889,410 (GRCm39) missense probably benign 0.03
R5953:Cntln UTSW 4 84,968,156 (GRCm39) missense possibly damaging 0.92
R6028:Cntln UTSW 4 84,889,410 (GRCm39) missense probably benign 0.03
R6298:Cntln UTSW 4 85,014,998 (GRCm39) missense probably damaging 1.00
R6351:Cntln UTSW 4 85,033,591 (GRCm39) missense probably damaging 0.99
R6371:Cntln UTSW 4 84,802,816 (GRCm39) missense probably damaging 0.98
R6481:Cntln UTSW 4 84,985,747 (GRCm39) missense probably benign 0.00
R6864:Cntln UTSW 4 85,015,029 (GRCm39) missense probably damaging 0.99
R6874:Cntln UTSW 4 84,985,996 (GRCm39) missense probably damaging 1.00
R6919:Cntln UTSW 4 85,033,605 (GRCm39) missense probably benign 0.04
R7071:Cntln UTSW 4 85,018,622 (GRCm39) missense probably damaging 1.00
R7113:Cntln UTSW 4 84,968,064 (GRCm39) missense probably damaging 0.98
R7152:Cntln UTSW 4 84,802,937 (GRCm39) missense possibly damaging 0.87
R7289:Cntln UTSW 4 84,964,540 (GRCm39) missense possibly damaging 0.80
R7440:Cntln UTSW 4 84,981,453 (GRCm39) missense possibly damaging 0.95
R7670:Cntln UTSW 4 84,897,577 (GRCm39) missense possibly damaging 0.66
R7707:Cntln UTSW 4 84,802,853 (GRCm39) missense probably damaging 1.00
R7895:Cntln UTSW 4 84,981,561 (GRCm39) missense possibly damaging 0.91
R8176:Cntln UTSW 4 84,806,926 (GRCm39) missense probably damaging 0.99
R8247:Cntln UTSW 4 85,019,017 (GRCm39) missense probably benign 0.39
R8264:Cntln UTSW 4 85,016,648 (GRCm39) missense probably damaging 1.00
R8293:Cntln UTSW 4 84,952,075 (GRCm39) missense probably damaging 1.00
R8536:Cntln UTSW 4 84,875,286 (GRCm39) missense probably damaging 1.00
R8844:Cntln UTSW 4 84,892,234 (GRCm39) missense probably damaging 1.00
R8924:Cntln UTSW 4 84,806,936 (GRCm39) missense probably damaging 1.00
R8955:Cntln UTSW 4 84,986,110 (GRCm39) missense possibly damaging 0.85
R8960:Cntln UTSW 4 85,018,961 (GRCm39) missense possibly damaging 0.59
R8979:Cntln UTSW 4 85,048,910 (GRCm39) missense probably damaging 1.00
R9255:Cntln UTSW 4 85,019,103 (GRCm39) missense possibly damaging 0.93
R9314:Cntln UTSW 4 84,924,719 (GRCm39) missense probably damaging 1.00
R9353:Cntln UTSW 4 84,802,597 (GRCm39) unclassified probably benign
R9361:Cntln UTSW 4 84,968,151 (GRCm39) missense probably benign 0.23
R9376:Cntln UTSW 4 84,875,258 (GRCm39) missense probably benign 0.24
R9382:Cntln UTSW 4 84,968,318 (GRCm39) missense probably benign 0.13
R9471:Cntln UTSW 4 84,968,019 (GRCm39) missense possibly damaging 0.62
R9478:Cntln UTSW 4 84,897,630 (GRCm39) missense probably benign 0.00
R9527:Cntln UTSW 4 84,892,120 (GRCm39) missense probably damaging 1.00
R9788:Cntln UTSW 4 84,968,093 (GRCm39) missense probably damaging 1.00
R9793:Cntln UTSW 4 84,985,798 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTATCTGGAGCCACACTGTG -3'
(R):5'- GCTAACTTTACCACTGACCCAG -3'

Sequencing Primer
(F):5'- GAAGAGATGGGTCACTCT -3'
(R):5'- AGGGGATGCTTCTTCACCTAACAG -3'
Posted On 2019-06-26