Incidental Mutation 'R9255:Cntln'
ID 701790
Institutional Source Beutler Lab
Gene Symbol Cntln
Ensembl Gene ENSMUSG00000038070
Gene Name centlein, centrosomal protein
Synonyms D530005L17Rik, B430108F07Rik
MMRRC Submission 068961-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.340) question?
Stock # R9255 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 84802546-85050158 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85019103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 130 (N130K)
Ref Sequence ENSEMBL: ENSMUSP00000102808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047023] [ENSMUST00000107190] [ENSMUST00000169371]
AlphaFold A2AM05
Predicted Effect possibly damaging
Transcript: ENSMUST00000047023
AA Change: N1265K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000044138
Gene: ENSMUSG00000038070
AA Change: N1265K

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: ENSMUST00000107190
AA Change: N130K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102808
Gene: ENSMUSG00000038070
AA Change: N130K

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 possibly damaging
Transcript: ENSMUST00000169371
AA Change: N1264K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130491
Gene: ENSMUSG00000038070
AA Change: N1264K

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: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,626,795 (GRCm39) Y549C probably damaging Het
Abca13 A C 11: 9,278,213 (GRCm39) N3131T probably damaging Het
Acap3 T C 4: 155,990,145 (GRCm39) V775A probably benign Het
Actn3 T A 19: 4,921,820 (GRCm39) I149F probably damaging Het
Adcy2 A T 13: 69,036,199 (GRCm39) M154K possibly damaging Het
Agbl1 A T 7: 76,416,150 (GRCm39) M976L unknown Het
Agbl3 T A 6: 34,789,840 (GRCm39) M531K probably damaging Het
Armc8 A C 9: 99,379,441 (GRCm39) M495R possibly damaging Het
Astn2 T A 4: 65,563,085 (GRCm39) K899* probably null Het
Atp10b T A 11: 43,107,148 (GRCm39) H727Q probably damaging Het
Bach1 A G 16: 87,519,401 (GRCm39) I564V possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc136 T A 6: 29,409,237 (GRCm39) H183Q probably benign Het
Celf3 T C 3: 94,392,594 (GRCm39) F98L probably benign Het
Chrd G A 16: 20,558,801 (GRCm39) C845Y probably damaging Het
Clec1a T G 6: 129,409,208 (GRCm39) K139N probably benign Het
Cog1 A T 11: 113,547,019 (GRCm39) T538S probably benign Het
Cog8 A G 8: 107,779,383 (GRCm39) I298T probably damaging Het
Dio1 A T 4: 107,164,102 (GRCm39) W72R probably damaging Het
Elapor1 T C 3: 108,376,864 (GRCm39) R453G probably damaging Het
Exph5 T A 9: 53,284,609 (GRCm39) N563K possibly damaging Het
Foxn1 C A 11: 78,252,399 (GRCm39) E330* probably null Het
Fzd7 G T 1: 59,522,495 (GRCm39) R126L possibly damaging Het
Gmnn A G 13: 24,937,351 (GRCm39) Y147H probably benign Het
Gpa33 A G 1: 165,980,186 (GRCm39) N83S probably benign Het
Hdac4 A G 1: 91,889,173 (GRCm39) probably null Het
Hydin A G 8: 111,261,972 (GRCm39) D2691G probably benign Het
Ifi203 A T 1: 173,756,787 (GRCm39) I332N unknown Het
Inpp1 A G 1: 52,829,306 (GRCm39) S238P probably benign Het
Jmy A G 13: 93,589,894 (GRCm39) probably null Het
Kcnab3 C T 11: 69,222,337 (GRCm39) Q327* probably null Het
Kctd1 A G 18: 15,194,853 (GRCm39) V590A probably benign Het
Lrrc8e A T 8: 4,284,504 (GRCm39) H243L probably damaging Het
Lsr A G 7: 30,657,670 (GRCm39) L498S probably benign Het
Mapkbp1 A G 2: 119,843,556 (GRCm39) D268G probably damaging Het
Mfn1 T C 3: 32,598,287 (GRCm39) V203A possibly damaging Het
Micu1 T A 10: 59,604,051 (GRCm39) I212N probably damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Or11i1 A G 3: 106,729,737 (GRCm39) I46T probably benign Het
Or12j4 T C 7: 140,046,423 (GRCm39) F103S probably damaging Het
Or8g30 T C 9: 39,230,487 (GRCm39) Y141C probably benign Het
Pabpc6 T C 17: 9,886,769 (GRCm39) E594G probably damaging Het
Pald1 A T 10: 61,176,989 (GRCm39) probably null Het
Pdpk1 A G 17: 24,325,938 (GRCm39) I113T possibly damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pi4kb T C 3: 94,906,219 (GRCm39) S589P probably damaging Het
Pik3ca G A 3: 32,496,981 (GRCm39) probably null Het
Plekhg4 A T 8: 106,103,271 (GRCm39) M315L probably benign Het
Proz G A 8: 13,123,472 (GRCm39) V248M possibly damaging Het
Prss1 T C 6: 41,438,183 (GRCm39) Y37H probably damaging Het
R3hdml T A 2: 163,337,612 (GRCm39) W89R probably damaging Het
Ranbp3l A G 15: 9,057,293 (GRCm39) T319A probably benign Het
Scn4a C T 11: 106,215,054 (GRCm39) A1246T probably damaging Het
Sdr42e1 T A 8: 118,389,999 (GRCm39) Y214F probably benign Het
Slc10a2 C T 8: 5,148,565 (GRCm39) V127I probably benign Het
Slc16a1 T A 3: 104,560,148 (GRCm39) M151K possibly damaging Het
Slc25a25 C T 2: 32,310,391 (GRCm39) E123K probably damaging Het
Ssbp2 T A 13: 91,818,525 (GRCm39) M171K possibly damaging Het
Styk1 A G 6: 131,286,946 (GRCm39) V183A probably damaging Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Tspan18 T G 2: 93,040,200 (GRCm39) D185A probably benign Het
Tti2 T A 8: 31,645,570 (GRCm39) F320Y probably damaging Het
Ttn T C 2: 76,608,621 (GRCm39) I17798M probably damaging Het
Ube2j1 C A 4: 33,036,759 (GRCm39) H28N probably benign Het
Vmn1r195 A C 13: 22,463,342 (GRCm39) I271L possibly damaging Het
Vmn2r81 A C 10: 79,103,166 (GRCm39) T120P possibly damaging Het
Vmn2r-ps158 A T 7: 42,673,965 (GRCm39) Y348F possibly damaging Het
Wtip A G 7: 33,824,908 (GRCm39) probably null Het
Zc3h12d C T 10: 7,729,022 (GRCm39) H129Y probably damaging Het
Zfp600 T G 4: 146,131,673 (GRCm39) S114A possibly 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
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
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'- CGCATAACTCACCAGGATGTG -3'
(R):5'- CAACAGTCTGAAGCCAGCTG -3'

Sequencing Primer
(F):5'- CTCACCAGGATGTGTGTGAAAC -3'
(R):5'- GAAGCCAGCTGAGCTCTCTCTATG -3'
Posted On 2022-03-25