Incidental Mutation 'R8979:Cntln'
ID 683618
Institutional Source Beutler Lab
Gene Symbol Cntln
Ensembl Gene ENSMUSG00000038070
Gene Name centlein, centrosomal protein
Synonyms B430108F07Rik, D530005L17Rik
MMRRC Submission 068812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.234) question?
Stock # R8979 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 84884309-85131921 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85130673 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 240 (V240E)
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: V1375E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: V1375E

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: V240E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102808
Gene: ENSMUSG00000038070
AA Change: V240E

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: V1374E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: V1374E

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 60,025,124 (GRCm38) R353S probably damaging Het
Ablim3 C T 18: 61,849,326 (GRCm38) V183I probably benign Het
Adgrb3 T A 1: 25,488,034 (GRCm38) Q607L probably benign Het
Adgrl1 A G 8: 83,938,386 (GRCm38) D1234G probably benign Het
Alms1 A G 6: 85,621,027 (GRCm38) Y945C probably damaging Het
Arhgef26 T A 3: 62,339,548 (GRCm38) W18R possibly damaging Het
Caskin1 G T 17: 24,498,925 (GRCm38) A229S possibly damaging Het
Celsr1 A T 15: 85,963,139 (GRCm38) S1466T probably damaging Het
Cftr T C 6: 18,227,948 (GRCm38) Y380H probably benign Het
Ciapin1 A T 8: 94,823,125 (GRCm38) L301Q probably damaging Het
Clec1b A G 6: 129,403,574 (GRCm38) E151G probably benign Het
Cngb1 G A 8: 95,278,285 (GRCm38) probably benign Het
Cog5 A G 12: 31,790,895 (GRCm38) T240A probably benign Het
Col5a3 G A 9: 20,775,301 (GRCm38) P1343S unknown Het
Cspp1 T A 1: 10,064,405 (GRCm38) S127T probably benign Het
Dnah9 T G 11: 66,005,152 (GRCm38) M2466L probably benign Het
Fbn2 C T 18: 58,153,856 (GRCm38) G244R probably damaging Het
Fbxw13 A T 9: 109,184,129 (GRCm38) W247R probably damaging Het
Gbp4 G A 5: 105,119,382 (GRCm38) T557M probably benign Het
Gm13762 C T 2: 88,973,829 (GRCm38) V21I probably benign Het
Ide G A 19: 37,325,312 (GRCm38) A133V Het
Il2rb C A 15: 78,491,852 (GRCm38) probably benign Het
Itgb1 A G 8: 128,722,470 (GRCm38) E519G probably benign Het
Kifc1 A G 17: 33,883,254 (GRCm38) Y462H possibly damaging Het
Krt1 A G 15: 101,846,905 (GRCm38) F473S probably benign Het
Llgl1 C T 11: 60,710,303 (GRCm38) A689V probably benign Het
Lrrc37a C A 11: 103,503,007 (GRCm38) V531L possibly damaging Het
Mid1 G A X: 169,985,013 (GRCm38) A386T probably benign Het
Mid1 C G X: 169,985,007 (GRCm38) P384A probably benign Het
Mms22l C T 4: 24,580,070 (GRCm38) L760F probably benign Het
Mplkipl1 A G 19: 61,175,731 (GRCm38) Y89H probably damaging Het
Mst1r C T 9: 107,915,279 (GRCm38) R951C probably damaging Het
Naalad2 G A 9: 18,330,850 (GRCm38) T586M probably damaging Het
Oxct2b A G 4: 123,117,376 (GRCm38) N363S probably benign Het
Padi6 T G 4: 140,739,163 (GRCm38) N145T probably benign Het
Plcl2 T A 17: 50,640,117 (GRCm38) M1008K possibly damaging Het
Plekha5 T C 6: 140,551,092 (GRCm38) S435P probably damaging Het
Prkacb C A 3: 146,812,656 (GRCm38) G10C probably benign Het
Psg29 A T 7: 17,203,619 (GRCm38) probably benign Het
Ptpn4 T C 1: 119,743,390 (GRCm38) T213A probably damaging Het
Ptpro A G 6: 137,368,142 (GRCm38) I49V probably benign Het
Rassf1 A G 9: 107,551,805 (GRCm38) D70G probably benign Het
Rbm24 A T 13: 46,419,055 (GRCm38) T9S probably damaging Het
Rp1 T C 1: 4,148,714 (GRCm38) T948A unknown Het
Ryr2 A T 13: 11,595,038 (GRCm38) C4301S probably benign Het
S100pbp T C 4: 129,182,340 (GRCm38) D64G probably damaging Het
Samd3 A G 10: 26,244,530 (GRCm38) K141E possibly damaging Het
Scgb1b29 A T 7: 32,441,852 (GRCm38) K65* probably null Het
Shoc1 T C 4: 59,047,276 (GRCm38) T1448A possibly damaging Het
Slc51b T C 9: 65,412,928 (GRCm38) N86D probably benign Het
Slc6a3 G A 13: 73,567,601 (GRCm38) V452I probably benign Het
Sobp A G 10: 43,020,980 (GRCm38) probably null Het
Spats2 T C 15: 99,212,242 (GRCm38) S507P possibly damaging Het
Spns3 C T 11: 72,529,590 (GRCm38) A357T probably damaging Het
Suox A T 10: 128,671,498 (GRCm38) H220Q probably damaging Het
Tbc1d9b A T 11: 50,170,982 (GRCm38) S1106C probably benign Het
Tbx1 T C 16: 18,587,995 (GRCm38) D9G unknown Het
Tcaf2 A T 6: 42,624,470 (GRCm38) F885Y probably damaging Het
Tgoln1 T C 6: 72,616,279 (GRCm38) T73A probably benign Het
Tigd3 G A 19: 5,891,825 (GRCm38) P426S probably benign Het
Tmem233 T A 5: 116,083,201 (GRCm38) probably benign Het
Tnfrsf11a A G 1: 105,827,100 (GRCm38) D299G possibly damaging Het
Trim32 T C 4: 65,613,455 (GRCm38) V83A possibly damaging Het
Unc13a A T 8: 71,660,481 (GRCm38) M242K probably benign Het
Vat1 C T 11: 101,462,215 (GRCm38) G293D probably damaging Het
Vmn1r174 T A 7: 23,754,467 (GRCm38) V186D possibly damaging Het
Wdfy3 A G 5: 101,948,898 (GRCm38) Y345H probably damaging Het
Zzef1 C T 11: 72,875,177 (GRCm38) T1510I probably benign Het
Other mutations in Cntln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Cntln APN 4 85,006,434 (GRCm38) missense probably benign 0.25
IGL00743:Cntln APN 4 84,979,415 (GRCm38) missense probably benign 0.06
IGL01014:Cntln APN 4 85,049,908 (GRCm38) missense probably benign 0.25
IGL02217:Cntln APN 4 85,100,258 (GRCm38) missense probably damaging 1.00
IGL02323:Cntln APN 4 85,049,789 (GRCm38) missense probably benign 0.00
IGL02353:Cntln APN 4 85,049,850 (GRCm38) missense probably damaging 0.98
IGL02360:Cntln APN 4 85,049,850 (GRCm38) missense probably damaging 0.98
IGL02616:Cntln APN 4 85,115,452 (GRCm38) critical splice donor site probably null
PIT4696001:Cntln UTSW 4 84,974,000 (GRCm38) missense probably damaging 0.99
R0110:Cntln UTSW 4 85,096,757 (GRCm38) missense probably damaging 1.00
R0324:Cntln UTSW 4 85,092,695 (GRCm38) missense probably damaging 0.98
R0349:Cntln UTSW 4 84,996,485 (GRCm38) missense probably damaging 1.00
R0519:Cntln UTSW 4 85,005,053 (GRCm38) splice site probably benign
R0529:Cntln UTSW 4 85,067,825 (GRCm38) missense probably damaging 1.00
R0582:Cntln UTSW 4 84,884,741 (GRCm38) missense probably damaging 1.00
R1077:Cntln UTSW 4 84,996,479 (GRCm38) missense probably damaging 1.00
R1345:Cntln UTSW 4 84,973,991 (GRCm38) missense probably damaging 1.00
R1457:Cntln UTSW 4 85,096,839 (GRCm38) missense probably benign 0.33
R1571:Cntln UTSW 4 84,947,586 (GRCm38) nonsense probably null
R1622:Cntln UTSW 4 85,063,181 (GRCm38) missense probably damaging 1.00
R1681:Cntln UTSW 4 84,947,635 (GRCm38) missense probably damaging 1.00
R1777:Cntln UTSW 4 85,130,679 (GRCm38) missense probably benign 0.23
R1808:Cntln UTSW 4 85,096,763 (GRCm38) missense probably damaging 1.00
R1882:Cntln UTSW 4 85,100,835 (GRCm38) missense probably damaging 1.00
R2056:Cntln UTSW 4 85,049,674 (GRCm38) missense probably benign
R2965:Cntln UTSW 4 84,974,027 (GRCm38) critical splice donor site probably null
R2968:Cntln UTSW 4 84,957,267 (GRCm38) missense probably benign 0.27
R3104:Cntln UTSW 4 84,957,169 (GRCm38) missense possibly damaging 0.95
R3106:Cntln UTSW 4 84,957,169 (GRCm38) missense possibly damaging 0.95
R3121:Cntln UTSW 4 85,005,052 (GRCm38) splice site probably benign
R3617:Cntln UTSW 4 85,004,977 (GRCm38) nonsense probably null
R4009:Cntln UTSW 4 85,063,215 (GRCm38) missense probably benign 0.45
R4036:Cntln UTSW 4 85,006,488 (GRCm38) missense probably damaging 1.00
R4548:Cntln UTSW 4 85,096,842 (GRCm38) missense probably benign 0.27
R4592:Cntln UTSW 4 84,971,182 (GRCm38) missense probably benign 0.00
R4666:Cntln UTSW 4 84,971,216 (GRCm38) missense probably benign 0.13
R4826:Cntln UTSW 4 85,005,044 (GRCm38) missense probably benign 0.03
R4836:Cntln UTSW 4 85,049,720 (GRCm38) nonsense probably null
R4856:Cntln UTSW 4 84,971,229 (GRCm38) missense probably benign 0.35
R4886:Cntln UTSW 4 84,971,229 (GRCm38) missense probably benign 0.35
R4995:Cntln UTSW 4 85,049,883 (GRCm38) missense probably benign 0.00
R5090:Cntln UTSW 4 84,947,593 (GRCm38) missense probably damaging 0.98
R5202:Cntln UTSW 4 84,971,229 (GRCm38) missense probably benign 0.35
R5905:Cntln UTSW 4 84,971,173 (GRCm38) missense probably benign 0.03
R5953:Cntln UTSW 4 85,049,919 (GRCm38) missense possibly damaging 0.92
R6028:Cntln UTSW 4 84,971,173 (GRCm38) missense probably benign 0.03
R6298:Cntln UTSW 4 85,096,761 (GRCm38) missense probably damaging 1.00
R6351:Cntln UTSW 4 85,115,354 (GRCm38) missense probably damaging 0.99
R6371:Cntln UTSW 4 84,884,579 (GRCm38) missense probably damaging 0.98
R6481:Cntln UTSW 4 85,067,510 (GRCm38) missense probably benign 0.00
R6864:Cntln UTSW 4 85,096,792 (GRCm38) missense probably damaging 0.99
R6874:Cntln UTSW 4 85,067,759 (GRCm38) missense probably damaging 1.00
R6919:Cntln UTSW 4 85,115,368 (GRCm38) missense probably benign 0.04
R7071:Cntln UTSW 4 85,100,385 (GRCm38) missense probably damaging 1.00
R7113:Cntln UTSW 4 85,049,827 (GRCm38) missense probably damaging 0.98
R7152:Cntln UTSW 4 84,884,700 (GRCm38) missense possibly damaging 0.87
R7253:Cntln UTSW 4 85,118,473 (GRCm38) missense probably damaging 1.00
R7289:Cntln UTSW 4 85,046,303 (GRCm38) missense possibly damaging 0.80
R7440:Cntln UTSW 4 85,063,216 (GRCm38) missense possibly damaging 0.95
R7670:Cntln UTSW 4 84,979,340 (GRCm38) missense possibly damaging 0.66
R7707:Cntln UTSW 4 84,884,616 (GRCm38) missense probably damaging 1.00
R7895:Cntln UTSW 4 85,063,324 (GRCm38) missense possibly damaging 0.91
R8176:Cntln UTSW 4 84,888,689 (GRCm38) missense probably damaging 0.99
R8247:Cntln UTSW 4 85,100,780 (GRCm38) missense probably benign 0.39
R8264:Cntln UTSW 4 85,098,411 (GRCm38) missense probably damaging 1.00
R8293:Cntln UTSW 4 85,033,838 (GRCm38) missense probably damaging 1.00
R8536:Cntln UTSW 4 84,957,049 (GRCm38) missense probably damaging 1.00
R8844:Cntln UTSW 4 84,973,997 (GRCm38) missense probably damaging 1.00
R8924:Cntln UTSW 4 84,888,699 (GRCm38) missense probably damaging 1.00
R8955:Cntln UTSW 4 85,067,873 (GRCm38) missense possibly damaging 0.85
R8960:Cntln UTSW 4 85,100,724 (GRCm38) missense possibly damaging 0.59
R9255:Cntln UTSW 4 85,100,866 (GRCm38) missense possibly damaging 0.93
R9314:Cntln UTSW 4 85,006,482 (GRCm38) missense probably damaging 1.00
R9353:Cntln UTSW 4 84,884,360 (GRCm38) unclassified probably benign
R9361:Cntln UTSW 4 85,049,914 (GRCm38) missense probably benign 0.23
R9376:Cntln UTSW 4 84,957,021 (GRCm38) missense probably benign 0.24
R9382:Cntln UTSW 4 85,050,081 (GRCm38) missense probably benign 0.13
R9471:Cntln UTSW 4 85,049,782 (GRCm38) missense possibly damaging 0.62
R9478:Cntln UTSW 4 84,979,393 (GRCm38) missense probably benign 0.00
R9527:Cntln UTSW 4 84,973,883 (GRCm38) missense probably damaging 1.00
R9788:Cntln UTSW 4 85,049,856 (GRCm38) missense probably damaging 1.00
R9793:Cntln UTSW 4 85,067,561 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGGGTCCCATTATGACTTGAAAG -3'
(R):5'- TTATTTGGCTGGAGCTGCCC -3'

Sequencing Primer
(F):5'- GTCAGATGACAACTTTAGTCATCCG -3'
(R):5'- TGGAGCTGCCCATTGCTAG -3'
Posted On 2021-10-11