Incidental Mutation 'R0324:Cntln'
ID 26337
Institutional Source Beutler Lab
Gene Symbol Cntln
Ensembl Gene ENSMUSG00000038070
Gene Name centlein, centrosomal protein
Synonyms D530005L17Rik, B430108F07Rik
MMRRC Submission 038534-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R0324 (G1)
Quality Score 174
Status Not validated
Chromosome 4
Chromosomal Location 84802546-85050158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85010932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1049 (V1049E)
Ref Sequence ENSEMBL: ENSMUSP00000044138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047023] [ENSMUST00000169371]
AlphaFold A2AM05
Predicted Effect probably damaging
Transcript: ENSMUST00000047023
AA Change: V1049E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: V1049E

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 possibly damaging
Transcript: ENSMUST00000169371
AA Change: V1048E

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: V1048E

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: 99.0%
  • 3x: 98.1%
  • 10x: 96.1%
  • 20x: 93.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,219,989 (GRCm39) L357S probably benign Het
1700129C05Rik C T 14: 59,380,256 (GRCm39) R14H probably damaging Het
Aatf A G 11: 84,402,965 (GRCm39) probably null Het
Abca13 T A 11: 9,247,669 (GRCm39) M2472K possibly damaging Het
Abcd3 C A 3: 121,562,816 (GRCm39) Q540H probably null Het
Adam17 C T 12: 21,399,939 (GRCm39) V156I probably benign Het
Adam26a A G 8: 44,021,490 (GRCm39) S667P probably benign Het
Adcy10 A G 1: 165,391,818 (GRCm39) K1333E probably benign Het
Apob G A 12: 8,060,521 (GRCm39) R2968Q probably benign Het
Arap3 G A 18: 38,106,278 (GRCm39) P1522S possibly damaging Het
Catsper1 A T 19: 5,386,573 (GRCm39) S269C probably damaging Het
Cd209d A T 8: 3,928,258 (GRCm39) S42R probably benign Het
Cracr2b T C 7: 141,043,659 (GRCm39) F87L probably damaging Het
Crb3 T C 17: 57,372,133 (GRCm39) L60P probably damaging Het
Crispld1 T C 1: 17,819,815 (GRCm39) V271A probably benign Het
Cyp2c66 G T 19: 39,165,135 (GRCm39) R372L probably benign Het
Deup1 G A 9: 15,493,829 (GRCm39) R438W probably benign Het
Dnah6 C T 6: 73,150,541 (GRCm39) E741K possibly damaging Het
Epha4 T C 1: 77,360,188 (GRCm39) E703G probably damaging Het
Evc2 G A 5: 37,550,443 (GRCm39) R819H probably damaging Het
Fam217a A C 13: 35,094,944 (GRCm39) C272G possibly damaging Het
Fndc7 T C 3: 108,784,015 (GRCm39) probably null Het
Foxs1 C T 2: 152,774,607 (GRCm39) G149S probably benign Het
Galnt13 T C 2: 54,744,628 (GRCm39) V109A probably benign Het
Hmgxb4 G A 8: 75,725,556 (GRCm39) M7I probably benign Het
Klk1b1 T A 7: 43,620,165 (GRCm39) C209* probably null Het
Klra10 A G 6: 130,249,613 (GRCm39) probably null Het
Kntc1 A T 5: 123,916,175 (GRCm39) K701N probably damaging Het
Lpgat1 T A 1: 191,481,754 (GRCm39) L114Q probably damaging Het
Mecom T A 3: 30,017,261 (GRCm39) Q468L probably damaging Het
Med15 T C 16: 17,515,476 (GRCm39) T70A probably damaging Het
Msh6 T A 17: 88,294,048 (GRCm39) Y934* probably null Het
Mtus1 T C 8: 41,537,432 (GRCm39) T95A probably benign Het
Mylk3 C A 8: 86,079,535 (GRCm39) R444S probably damaging Het
Nbea A G 3: 55,965,369 (GRCm39) probably null Het
Nbeal1 T C 1: 60,332,032 (GRCm39) V2242A probably damaging Het
Nhp2 A G 11: 51,513,334 (GRCm39) T85A possibly damaging Het
Nlk A G 11: 78,463,257 (GRCm39) S413P possibly damaging Het
Nmbr A G 10: 14,636,192 (GRCm39) I54V possibly damaging Het
Nmur2 A T 11: 55,931,346 (GRCm39) C122S probably damaging Het
Nudt13 G T 14: 20,361,583 (GRCm39) V220L probably damaging Het
Or5m13 G A 2: 85,748,295 (GRCm39) V9M probably benign Het
Pclo G A 5: 14,719,447 (GRCm39) G1195R unknown Het
Pcsk7 A G 9: 45,824,309 (GRCm39) H276R possibly damaging Het
Pdss2 T C 10: 43,269,924 (GRCm39) S256P probably damaging Het
Pgf G T 12: 85,218,198 (GRCm39) H116N probably benign Het
Pglyrp2 T C 17: 32,637,302 (GRCm39) D242G probably benign Het
Plk2 G A 13: 110,534,242 (GRCm39) R274K probably benign Het
Ppp6r3 G T 19: 3,514,693 (GRCm39) P141T probably benign Het
Prss54 T C 8: 96,292,295 (GRCm39) T95A probably benign Het
Rab3il1 A G 19: 10,005,653 (GRCm39) D149G probably damaging Het
Rasgef1c T C 11: 49,852,057 (GRCm39) probably null Het
Rhpn1 T C 15: 75,583,437 (GRCm39) M334T probably damaging Het
Rigi T C 4: 40,213,766 (GRCm39) T586A probably benign Het
Robo2 C T 16: 73,764,739 (GRCm39) V630M probably damaging Het
Rptor C T 11: 119,783,467 (GRCm39) R1154W probably damaging Het
Scnn1g A G 7: 121,339,778 (GRCm39) I192M possibly damaging Het
Sit1 G A 4: 43,482,815 (GRCm39) Q115* probably null Het
Slc13a2 T C 11: 78,295,350 (GRCm39) N141S probably damaging Het
Slc19a2 C A 1: 164,084,344 (GRCm39) T78K probably damaging Het
Snx14 A G 9: 88,287,291 (GRCm39) probably null Het
Stil T A 4: 114,896,346 (GRCm39) C944S probably benign Het
Tex56 A G 13: 35,108,596 (GRCm39) N26S probably benign Het
Tnfaip2 A G 12: 111,419,893 (GRCm39) N675S probably damaging Het
Trim30c A G 7: 104,032,516 (GRCm39) I270T possibly damaging Het
Ugt2a3 C T 5: 87,474,932 (GRCm39) probably null Het
Vmn1r213 A T 13: 23,195,588 (GRCm39) probably benign Het
Vmn2r8 A C 5: 108,945,807 (GRCm39) probably null Het
Vps13c T C 9: 67,871,591 (GRCm39) F3253L possibly damaging Het
Zbtb16 G T 9: 48,576,575 (GRCm39) Q502K possibly damaging Het
Zfp143 A G 7: 109,676,354 (GRCm39) K218E possibly damaging Het
Zfp946 A G 17: 22,673,417 (GRCm39) N57S probably benign Het
Zfp985 T C 4: 147,667,314 (GRCm39) Y61H probably benign Het
Zkscan1 G A 5: 138,095,785 (GRCm39) R246Q probably damaging Het
Zpld1 A G 16: 55,071,978 (GRCm39) F94L probably damaging Het
Zswim5 G T 4: 116,844,103 (GRCm39) W1047L 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
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
R7253:Cntln UTSW 4 85,036,710 (GRCm39) missense probably damaging 1.00
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'- GCCCATGTAGATGTGAAAGCAATGGTC -3'
(R):5'- TGTTGCAAGACACCGAGAACATTAGG -3'

Sequencing Primer
(F):5'- CTGACACTAATTAAAACCTGGGAG -3'
(R):5'- GGTGGCCTCTATTGAACTAAATCAG -3'
Posted On 2013-04-16