Incidental Mutation 'R1952:Nin'
ID 217406
Institutional Source Beutler Lab
Gene Symbol Nin
Ensembl Gene ENSMUSG00000021068
Gene Name ninein
Synonyms 3110068G20Rik
MMRRC Submission 039966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1952 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 70058209-70160491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70077700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 1035 (Q1035L)
Ref Sequence ENSEMBL: ENSMUSP00000152530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021468] [ENSMUST00000085314] [ENSMUST00000095666] [ENSMUST00000169074] [ENSMUST00000220689] [ENSMUST00000222237] [ENSMUST00000223257] [ENSMUST00000222835]
AlphaFold Q61043
Predicted Effect possibly damaging
Transcript: ENSMUST00000021468
AA Change: Q1742L

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: Q1742L

DomainStartEndE-ValueType
internal_repeat_1 7 67 7.83e-8 PROSPERO
low complexity region 97 108 N/A INTRINSIC
low complexity region 115 132 N/A INTRINSIC
internal_repeat_1 181 242 7.83e-8 PROSPERO
low complexity region 276 289 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
coiled coil region 358 570 N/A INTRINSIC
coiled coil region 625 802 N/A INTRINSIC
coiled coil region 834 926 N/A INTRINSIC
coiled coil region 957 1008 N/A INTRINSIC
low complexity region 1035 1044 N/A INTRINSIC
low complexity region 1047 1057 N/A INTRINSIC
coiled coil region 1069 1094 N/A INTRINSIC
coiled coil region 1178 1325 N/A INTRINSIC
low complexity region 1374 1385 N/A INTRINSIC
coiled coil region 1425 1806 N/A INTRINSIC
coiled coil region 1980 2013 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085314
AA Change: Q1742L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: Q1742L

DomainStartEndE-ValueType
internal_repeat_1 7 67 4.15e-8 PROSPERO
low complexity region 97 108 N/A INTRINSIC
low complexity region 115 132 N/A INTRINSIC
internal_repeat_1 181 242 4.15e-8 PROSPERO
low complexity region 276 289 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
coiled coil region 358 570 N/A INTRINSIC
coiled coil region 625 802 N/A INTRINSIC
coiled coil region 834 926 N/A INTRINSIC
coiled coil region 957 1008 N/A INTRINSIC
low complexity region 1035 1044 N/A INTRINSIC
low complexity region 1047 1057 N/A INTRINSIC
coiled coil region 1069 1094 N/A INTRINSIC
coiled coil region 1178 1325 N/A INTRINSIC
low complexity region 1374 1385 N/A INTRINSIC
coiled coil region 1425 1806 N/A INTRINSIC
coiled coil region 1971 2045 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000095666
AA Change: Q1742L

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: Q1742L

DomainStartEndE-ValueType
internal_repeat_1 7 67 7.83e-8 PROSPERO
low complexity region 97 108 N/A INTRINSIC
low complexity region 115 132 N/A INTRINSIC
internal_repeat_1 181 242 7.83e-8 PROSPERO
low complexity region 276 289 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
coiled coil region 358 570 N/A INTRINSIC
coiled coil region 625 802 N/A INTRINSIC
coiled coil region 834 926 N/A INTRINSIC
coiled coil region 957 1008 N/A INTRINSIC
low complexity region 1035 1044 N/A INTRINSIC
low complexity region 1047 1057 N/A INTRINSIC
coiled coil region 1069 1094 N/A INTRINSIC
coiled coil region 1178 1325 N/A INTRINSIC
low complexity region 1374 1385 N/A INTRINSIC
coiled coil region 1425 1806 N/A INTRINSIC
coiled coil region 1980 2013 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169074
AA Change: Q1742L

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: Q1742L

DomainStartEndE-ValueType
internal_repeat_1 7 67 7.83e-8 PROSPERO
low complexity region 97 108 N/A INTRINSIC
low complexity region 115 132 N/A INTRINSIC
internal_repeat_1 181 242 7.83e-8 PROSPERO
low complexity region 276 289 N/A INTRINSIC
low complexity region 336 353 N/A INTRINSIC
coiled coil region 358 570 N/A INTRINSIC
coiled coil region 625 802 N/A INTRINSIC
coiled coil region 834 926 N/A INTRINSIC
coiled coil region 957 1008 N/A INTRINSIC
low complexity region 1035 1044 N/A INTRINSIC
low complexity region 1047 1057 N/A INTRINSIC
coiled coil region 1069 1094 N/A INTRINSIC
coiled coil region 1178 1325 N/A INTRINSIC
low complexity region 1374 1385 N/A INTRINSIC
coiled coil region 1425 1806 N/A INTRINSIC
coiled coil region 1980 2013 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000220689
AA Change: Q1035L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221486
Predicted Effect probably damaging
Transcript: ENSMUST00000222237
AA Change: Q1742L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000223257
AA Change: Q1742L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223469
Predicted Effect probably benign
Transcript: ENSMUST00000221579
Predicted Effect probably benign
Transcript: ENSMUST00000222835
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222137
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024G13Rik A G 14: 32,110,293 (GRCm39) V6A possibly damaging Het
Accsl G T 2: 93,689,778 (GRCm39) H376Q probably damaging Het
Adgrg1 T C 8: 95,735,119 (GRCm39) probably null Het
Alyref C G 11: 120,486,758 (GRCm39) V168L probably damaging Het
Ankrd12 T C 17: 66,338,566 (GRCm39) D128G probably damaging Het
Bcl2l14 A G 6: 134,409,329 (GRCm39) Y301C probably damaging Het
Camsap3 A G 8: 3,654,789 (GRCm39) T804A probably damaging Het
Capn11 A T 17: 45,953,885 (GRCm39) W154R probably damaging Het
Cd44 T A 2: 102,683,432 (GRCm39) T201S probably damaging Het
Cers4 G A 8: 4,573,461 (GRCm39) W319* probably null Het
Col27a1 T A 4: 63,202,130 (GRCm39) probably null Het
Crnkl1 G A 2: 145,770,120 (GRCm39) A241V probably damaging Het
Cyp2c68 T C 19: 39,700,972 (GRCm39) Y282C probably benign Het
Dmd T A X: 82,874,123 (GRCm39) I1342N probably damaging Het
Dusp7 T A 9: 106,248,028 (GRCm39) C219S probably benign Het
Epha7 A G 4: 28,950,474 (GRCm39) N759S probably damaging Het
Fat1 T C 8: 45,486,963 (GRCm39) V3413A probably benign Het
Gls2 A G 10: 128,045,231 (GRCm39) H576R probably benign Het
Gm4884 G A 7: 40,693,671 (GRCm39) V547M probably benign Het
Hap1 A G 11: 100,243,105 (GRCm39) V174A probably damaging Het
Il12rb2 A G 6: 67,269,300 (GRCm39) S838P probably damaging Het
Ints8 T C 4: 11,221,150 (GRCm39) I742V probably benign Het
Katnal2 G T 18: 77,067,707 (GRCm39) S411R probably benign Het
Lrp1 A C 10: 127,403,300 (GRCm39) V2091G probably damaging Het
Mettl21c A T 1: 44,056,368 (GRCm39) D20E probably damaging Het
Mib1 A T 18: 10,812,077 (GRCm39) E991D possibly damaging Het
Mip T C 10: 128,061,772 (GRCm39) S8P possibly damaging Het
Mllt6 T C 11: 97,568,048 (GRCm39) S826P probably damaging Het
Mlst8 AT ATT 17: 24,696,987 (GRCm39) probably null Het
Myrfl C T 10: 116,658,716 (GRCm39) V414I probably benign Het
Nbeal1 T C 1: 60,273,999 (GRCm39) V409A probably damaging Het
Nlgn1 T A 3: 25,490,464 (GRCm39) D421V probably damaging Het
Nlrp10 A G 7: 108,523,770 (GRCm39) V570A probably benign Het
Olfm3 A T 3: 114,895,589 (GRCm39) E157V probably null Het
Or8g24 T A 9: 38,989,580 (GRCm39) I154F probably benign Het
Or8g37 T C 9: 39,731,363 (GRCm39) S143P probably benign Het
Otud7a A G 7: 63,300,624 (GRCm39) D21G probably damaging Het
Pax2 A G 19: 44,777,271 (GRCm39) T155A probably benign Het
Pcf11 A T 7: 92,310,546 (GRCm39) S481T probably damaging Het
Prkab2 T C 3: 97,573,943 (GRCm39) V194A probably benign Het
Prl3a1 G A 13: 27,454,136 (GRCm39) G38E possibly damaging Het
Psmb8 T C 17: 34,419,884 (GRCm39) V246A probably damaging Het
Ptpn12 A T 5: 21,203,308 (GRCm39) V490E probably benign Het
Ptprm A T 17: 67,247,575 (GRCm39) S587T probably benign Het
Qars1 G A 9: 108,390,380 (GRCm39) R427H probably benign Het
R3hdml T C 2: 163,340,216 (GRCm39) F128L probably benign Het
Rapgef4 A G 2: 72,038,471 (GRCm39) M541V probably benign Het
Rhbdf1 G A 11: 32,164,277 (GRCm39) R234* probably null Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Satb1 A T 17: 52,047,173 (GRCm39) L683Q probably damaging Het
Satb2 T C 1: 56,938,229 (GRCm39) T132A probably damaging Het
Sbspon A G 1: 15,930,519 (GRCm39) S156P probably damaging Het
Shb A T 4: 45,458,347 (GRCm39) probably null Het
She A G 3: 89,756,792 (GRCm39) K282R possibly damaging Het
Slc25a13 A G 6: 6,152,482 (GRCm39) L85P probably damaging Het
Slc7a13 A T 4: 19,841,578 (GRCm39) H475L probably benign Het
Sorl1 C T 9: 41,957,920 (GRCm39) V575I probably benign Het
Spag9 T A 11: 93,988,184 (GRCm39) C833S possibly damaging Het
Speer2 A C 16: 69,654,052 (GRCm39) N232K probably damaging Het
Syncrip A T 9: 88,358,927 (GRCm39) M194K probably damaging Het
Sytl3 A C 17: 6,995,732 (GRCm39) T171P probably damaging Het
Taar7f T A 10: 23,925,747 (GRCm39) Y114N probably damaging Het
Tamalin T C 15: 101,122,381 (GRCm39) Y67H probably benign Het
Tap1 C G 17: 34,412,481 (GRCm39) P506R probably damaging Het
Tle6 T C 10: 81,431,319 (GRCm39) D212G possibly damaging Het
Trim80 G T 11: 115,332,155 (GRCm39) E116* probably null Het
Ttll4 A G 1: 74,726,718 (GRCm39) R745G probably damaging Het
Vdac2 A T 14: 21,887,947 (GRCm39) I85F possibly damaging Het
Vmn1r188 A G 13: 22,272,309 (GRCm39) R88G probably damaging Het
Washc2 T C 6: 116,232,052 (GRCm39) S821P possibly damaging Het
Wdhd1 T C 14: 47,507,647 (GRCm39) Y213C probably damaging Het
Wdr55 C A 18: 36,893,437 (GRCm39) P33Q probably damaging Het
Yrdc C T 4: 124,745,739 (GRCm39) A32V probably benign Het
Zfp608 T A 18: 55,030,851 (GRCm39) K1030* probably null Het
Zfp618 T A 4: 63,050,555 (GRCm39) probably null Het
Other mutations in Nin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00472:Nin APN 12 70,076,862 (GRCm39) missense probably damaging 0.98
IGL00677:Nin APN 12 70,073,634 (GRCm39) missense probably damaging 1.00
IGL00823:Nin APN 12 70,061,567 (GRCm39) missense probably benign 0.01
IGL01103:Nin APN 12 70,103,532 (GRCm39) missense probably damaging 0.99
IGL01113:Nin APN 12 70,078,553 (GRCm39) missense probably damaging 1.00
IGL01420:Nin APN 12 70,092,188 (GRCm39) missense probably benign 0.08
IGL01556:Nin APN 12 70,089,962 (GRCm39) missense probably benign 0.01
IGL01663:Nin APN 12 70,090,439 (GRCm39) missense possibly damaging 0.72
IGL02002:Nin APN 12 70,109,473 (GRCm39) nonsense probably null
IGL02030:Nin APN 12 70,092,042 (GRCm39) missense probably damaging 1.00
IGL02202:Nin APN 12 70,102,210 (GRCm39) missense probably damaging 1.00
IGL02207:Nin APN 12 70,103,431 (GRCm39) missense probably damaging 0.99
IGL02257:Nin APN 12 70,149,465 (GRCm39) missense possibly damaging 0.71
IGL02394:Nin APN 12 70,090,805 (GRCm39) missense probably damaging 1.00
IGL02531:Nin APN 12 70,067,706 (GRCm39) missense probably benign 0.02
IGL03028:Nin APN 12 70,082,044 (GRCm39) missense probably benign 0.13
IGL03155:Nin APN 12 70,078,544 (GRCm39) missense probably damaging 1.00
IGL03197:Nin APN 12 70,073,584 (GRCm39) missense probably benign 0.03
IGL02835:Nin UTSW 12 70,103,512 (GRCm39) missense probably damaging 1.00
R0131:Nin UTSW 12 70,097,915 (GRCm39) missense probably damaging 1.00
R0131:Nin UTSW 12 70,097,915 (GRCm39) missense probably damaging 1.00
R0132:Nin UTSW 12 70,097,915 (GRCm39) missense probably damaging 1.00
R0211:Nin UTSW 12 70,061,649 (GRCm39) missense probably damaging 1.00
R0211:Nin UTSW 12 70,061,649 (GRCm39) missense probably damaging 1.00
R0734:Nin UTSW 12 70,076,887 (GRCm39) missense probably benign 0.01
R0947:Nin UTSW 12 70,107,960 (GRCm39) missense probably damaging 1.00
R1085:Nin UTSW 12 70,067,736 (GRCm39) missense possibly damaging 0.91
R1367:Nin UTSW 12 70,090,703 (GRCm39) missense probably damaging 0.99
R1452:Nin UTSW 12 70,064,424 (GRCm39) nonsense probably null
R1477:Nin UTSW 12 70,090,958 (GRCm39) missense possibly damaging 0.87
R1518:Nin UTSW 12 70,061,547 (GRCm39) missense probably benign 0.27
R1566:Nin UTSW 12 70,101,253 (GRCm39) missense probably damaging 0.99
R1572:Nin UTSW 12 70,085,524 (GRCm39) missense probably damaging 1.00
R1583:Nin UTSW 12 70,078,512 (GRCm39) missense probably benign
R1584:Nin UTSW 12 70,089,443 (GRCm39) missense probably benign 0.03
R1699:Nin UTSW 12 70,092,337 (GRCm39) missense possibly damaging 0.87
R1699:Nin UTSW 12 70,077,712 (GRCm39) missense probably benign 0.40
R1765:Nin UTSW 12 70,089,665 (GRCm39) missense probably damaging 1.00
R1794:Nin UTSW 12 70,090,569 (GRCm39) nonsense probably null
R2004:Nin UTSW 12 70,072,251 (GRCm39) missense probably benign 0.01
R2025:Nin UTSW 12 70,076,782 (GRCm39) missense probably damaging 1.00
R2060:Nin UTSW 12 70,089,192 (GRCm39) missense possibly damaging 0.64
R2213:Nin UTSW 12 70,092,128 (GRCm39) missense probably damaging 1.00
R2224:Nin UTSW 12 70,108,004 (GRCm39) missense probably damaging 1.00
R2247:Nin UTSW 12 70,101,319 (GRCm39) missense probably damaging 1.00
R2972:Nin UTSW 12 70,109,487 (GRCm39) missense probably damaging 1.00
R3776:Nin UTSW 12 70,085,456 (GRCm39) missense possibly damaging 0.71
R3881:Nin UTSW 12 70,089,315 (GRCm39) missense probably benign 0.00
R3930:Nin UTSW 12 70,125,016 (GRCm39) missense probably damaging 1.00
R3959:Nin UTSW 12 70,097,526 (GRCm39) missense probably damaging 1.00
R4229:Nin UTSW 12 70,097,984 (GRCm39) missense probably damaging 0.99
R4359:Nin UTSW 12 70,061,712 (GRCm39) missense probably benign 0.00
R4423:Nin UTSW 12 70,089,752 (GRCm39) missense probably damaging 1.00
R4461:Nin UTSW 12 70,089,359 (GRCm39) missense probably benign 0.37
R4639:Nin UTSW 12 70,085,375 (GRCm39) missense probably damaging 0.97
R4791:Nin UTSW 12 70,090,581 (GRCm39) missense possibly damaging 0.94
R4839:Nin UTSW 12 70,137,325 (GRCm39) missense possibly damaging 0.46
R4912:Nin UTSW 12 70,090,837 (GRCm39) missense probably damaging 1.00
R5712:Nin UTSW 12 70,089,543 (GRCm39) missense probably damaging 1.00
R5726:Nin UTSW 12 70,124,953 (GRCm39) missense probably damaging 1.00
R5804:Nin UTSW 12 70,092,375 (GRCm39) missense possibly damaging 0.58
R5874:Nin UTSW 12 70,077,692 (GRCm39) missense possibly damaging 0.94
R5992:Nin UTSW 12 70,092,298 (GRCm39) missense possibly damaging 0.83
R6077:Nin UTSW 12 70,066,006 (GRCm39) missense probably damaging 1.00
R6184:Nin UTSW 12 70,090,511 (GRCm39) missense probably damaging 1.00
R6307:Nin UTSW 12 70,061,631 (GRCm39) missense possibly damaging 0.91
R6315:Nin UTSW 12 70,092,389 (GRCm39) missense probably damaging 1.00
R6326:Nin UTSW 12 70,091,955 (GRCm39) missense possibly damaging 0.95
R6492:Nin UTSW 12 70,101,308 (GRCm39) missense probably benign 0.22
R6562:Nin UTSW 12 70,102,728 (GRCm39) missense probably damaging 1.00
R6578:Nin UTSW 12 70,107,968 (GRCm39) missense probably damaging 0.99
R6613:Nin UTSW 12 70,077,728 (GRCm39) missense probably damaging 1.00
R7112:Nin UTSW 12 70,149,573 (GRCm39) missense
R7170:Nin UTSW 12 70,091,013 (GRCm39) missense
R7324:Nin UTSW 12 70,090,508 (GRCm39) missense
R7338:Nin UTSW 12 70,090,838 (GRCm39) missense
R7372:Nin UTSW 12 70,102,803 (GRCm39) missense
R7431:Nin UTSW 12 70,124,997 (GRCm39) missense
R7577:Nin UTSW 12 70,109,480 (GRCm39) missense
R7655:Nin UTSW 12 70,089,542 (GRCm39) missense
R7656:Nin UTSW 12 70,089,542 (GRCm39) missense
R7683:Nin UTSW 12 70,124,956 (GRCm39) missense
R7769:Nin UTSW 12 70,090,004 (GRCm39) missense
R7981:Nin UTSW 12 70,089,591 (GRCm39) missense
R8138:Nin UTSW 12 70,089,672 (GRCm39) missense
R8141:Nin UTSW 12 70,076,795 (GRCm39) missense
R8754:Nin UTSW 12 70,077,787 (GRCm39) intron probably benign
R8790:Nin UTSW 12 70,067,793 (GRCm39) missense
R8899:Nin UTSW 12 70,077,710 (GRCm39) missense probably damaging 1.00
R8974:Nin UTSW 12 70,124,932 (GRCm39) missense
R9085:Nin UTSW 12 70,076,786 (GRCm39) nonsense probably null
R9143:Nin UTSW 12 70,137,349 (GRCm39) missense
R9380:Nin UTSW 12 70,074,805 (GRCm39) missense
R9496:Nin UTSW 12 70,102,762 (GRCm39) missense
R9638:Nin UTSW 12 70,067,618 (GRCm39) missense
R9709:Nin UTSW 12 70,149,468 (GRCm39) missense
R9745:Nin UTSW 12 70,089,899 (GRCm39) missense
R9792:Nin UTSW 12 70,094,009 (GRCm39) missense
Z1176:Nin UTSW 12 70,095,938 (GRCm39) critical splice acceptor site probably null
Z1177:Nin UTSW 12 70,101,200 (GRCm39) missense
Z1177:Nin UTSW 12 70,090,869 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCCCATGGGATCATTCTGAGGC -3'
(R):5'- AGAGTCAGGAAAGCATCACTCC -3'

Sequencing Primer
(F):5'- ATCATTCTGAGGCTCCTTGAG -3'
(R):5'- TTCTCCTCAAGGCAGATGGG -3'
Posted On 2014-08-01