Incidental Mutation 'R7431:Nin'
ID 576494
Institutional Source Beutler Lab
Gene Symbol Nin
Ensembl Gene ENSMUSG00000021068
Gene Name ninein
Synonyms 3110068G20Rik
MMRRC Submission 045509-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7431 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 70058209-70160491 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70124997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 108 (R108S)
Ref Sequence ENSEMBL: ENSMUSP00000082422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021468] [ENSMUST00000085314] [ENSMUST00000095666] [ENSMUST00000169074] [ENSMUST00000220689] [ENSMUST00000221275] [ENSMUST00000222237] [ENSMUST00000222835] [ENSMUST00000223257]
AlphaFold Q61043
Predicted Effect probably damaging
Transcript: ENSMUST00000021468
AA Change: R108S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: R108S

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
SMART Domains Protein: ENSMUSP00000082422
Gene: ENSMUSG00000021068
AA Change: R108S

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 probably damaging
Transcript: ENSMUST00000095666
AA Change: R108S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: R108S

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: ENSMUST00000169074
AA Change: R108S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: R108S

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: ENSMUST00000220689
AA Change: R108S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000222835
AA Change: R108S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000223257
AA Change: R108S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 97% (77/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 CA C 11: 110,018,252 (GRCm39) probably null Het
Abcf3 G T 16: 20,377,539 (GRCm39) R510L probably benign Het
Abcg4 T A 9: 44,185,997 (GRCm39) I625F possibly damaging Het
Adam22 A T 5: 8,142,818 (GRCm39) S806T probably damaging Het
Adcy4 T C 14: 56,010,129 (GRCm39) I718V probably benign Het
Adgb A T 10: 10,267,699 (GRCm39) probably null Het
Aldoart1 T A 4: 72,769,678 (GRCm39) K377* probably null Het
Apc2 T A 10: 80,138,017 (GRCm39) V100E possibly damaging Het
Asxl3 T G 18: 22,650,010 (GRCm39) D666E probably damaging Het
Atg4c A T 4: 99,109,632 (GRCm39) I200F possibly damaging Het
Atp1a4 A G 1: 172,078,474 (GRCm39) F255L probably benign Het
Bod1l A C 5: 41,970,463 (GRCm39) probably null Het
Cacna2d4 A T 6: 119,221,237 (GRCm39) T250S probably damaging Het
Ccdc202 A G 14: 96,119,273 (GRCm39) H10R probably benign Het
Ccng1 G A 11: 40,644,745 (GRCm39) R51W possibly damaging Het
Chd6 T C 2: 160,868,248 (GRCm39) E366G possibly damaging Het
Clca4b A T 3: 144,616,894 (GRCm39) S919T probably benign Het
Col5a3 T C 9: 20,682,131 (GRCm39) *1740W probably null Het
Col6a5 A T 9: 105,805,468 (GRCm39) I1146K unknown Het
Cpxm1 T C 2: 130,235,966 (GRCm39) T399A probably benign Het
Cpz T C 5: 35,668,486 (GRCm39) T375A probably benign Het
Cyp2b13 T A 7: 25,760,976 (GRCm39) V11D probably damaging Het
Cyp39a1 A G 17: 43,993,906 (GRCm39) T189A probably benign Het
Desi2 C T 1: 178,084,007 (GRCm39) Q52* probably null Het
Dhx15 A G 5: 52,319,953 (GRCm39) V418A probably damaging Het
Dnah3 T A 7: 119,650,967 (GRCm39) M978L probably damaging Het
Dpagt1 T A 9: 44,237,384 (GRCm39) C17* probably null Het
Dph5 A T 3: 115,686,381 (GRCm39) K52N possibly damaging Het
Dpp4 G T 2: 62,182,582 (GRCm39) N566K probably benign Het
Elavl4 T C 4: 110,083,830 (GRCm39) Y94C probably damaging Het
Fat2 G A 11: 55,199,927 (GRCm39) T1049I probably damaging Het
Fat4 T A 3: 39,063,306 (GRCm39) Y4421N possibly damaging Het
Fcrl2 C A 3: 87,166,233 (GRCm39) A181S probably damaging Het
Garre1 T C 7: 33,984,219 (GRCm39) I135V possibly damaging Het
Glg1 G T 8: 111,887,386 (GRCm39) N456K unknown Het
Gm10228 A G 16: 88,838,101 (GRCm39) S68P unknown Het
Golga4 G A 9: 118,388,799 (GRCm39) E1974K probably damaging Het
Heatr9 G T 11: 83,410,094 (GRCm39) P49Q probably damaging Het
Hmgxb3 A T 18: 61,280,517 (GRCm39) V662D probably damaging Het
Hs3st4 T C 7: 123,582,513 (GRCm39) L37P probably damaging Het
Ifi205 A T 1: 173,855,943 (GRCm39) M29K probably benign Het
Igkv1-35 C T 6: 69,987,988 (GRCm39) V103M probably damaging Het
Klf13 T A 7: 63,541,504 (GRCm39) K208* probably null Het
Klhl36 A G 8: 120,597,121 (GRCm39) N274S probably benign Het
Mosmo T A 7: 120,329,873 (GRCm39) L165I probably benign Het
Mtcl1 G A 17: 66,649,901 (GRCm39) Q1855* probably null Het
Muc16 A G 9: 18,519,289 (GRCm39) V208A Het
Odad1 T G 7: 45,578,670 (GRCm39) L81R probably damaging Het
Or13c7d T C 4: 43,770,882 (GRCm39) N43S probably damaging Het
Polr1a G A 6: 71,903,643 (GRCm39) V319I probably benign Het
Pramel7 A G 2: 87,320,282 (GRCm39) V337A possibly damaging Het
Prkar2b A T 12: 32,013,150 (GRCm39) probably null Het
R3hdm2 T A 10: 127,294,016 (GRCm39) M170K probably benign Het
Rbm26 A G 14: 105,354,528 (GRCm39) I919T possibly damaging Het
Rimkla A G 4: 119,335,008 (GRCm39) M125T probably benign Het
Sag T A 1: 87,749,059 (GRCm39) F153I possibly damaging Het
Sbf2 G T 7: 109,950,957 (GRCm39) D1163E probably damaging Het
Scgb2b24 T C 7: 33,438,674 (GRCm39) I13V probably benign Het
Scin G A 12: 40,183,921 (GRCm39) H63Y probably damaging Het
Sele A G 1: 163,879,189 (GRCm39) T275A probably damaging Het
Slc22a15 T A 3: 101,805,256 (GRCm39) T144S probably benign Het
Slc8a1 T A 17: 81,749,092 (GRCm39) K650I probably benign Het
Slc9c1 G T 16: 45,413,847 (GRCm39) V992F probably damaging Het
Spag16 A T 1: 69,963,031 (GRCm39) T393S unknown Het
Taf15 G A 11: 83,395,779 (GRCm39) D495N unknown Het
Tas2r144 T A 6: 42,192,908 (GRCm39) I216N probably damaging Het
Tbccd1 G T 16: 22,644,563 (GRCm39) P271Q probably benign Het
Tcf4 C A 18: 69,480,249 (GRCm39) probably null Het
Thap4 A T 1: 93,678,223 (GRCm39) S188T probably benign Het
Trank1 T C 9: 111,191,470 (GRCm39) V493A probably benign Het
Trip11 A G 12: 101,850,278 (GRCm39) V1262A possibly damaging Het
Tspan2 T A 3: 102,657,107 (GRCm39) W35R probably damaging Het
Usp39 G T 6: 72,313,251 (GRCm39) T313N possibly damaging Het
Vmn2r83 T A 10: 79,327,306 (GRCm39) L638Q probably damaging Het
Vps29 T C 5: 122,492,541 (GRCm39) V2A probably benign Het
Wrap53 A G 11: 69,469,313 (GRCm39) F148L possibly damaging Het
Znfx1 T C 2: 166,897,712 (GRCm39) Y404C probably damaging Het
Zrsr2-ps1 A G 11: 22,923,580 (GRCm39) E118G probably benign 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
R1952:Nin UTSW 12 70,077,700 (GRCm39) missense probably damaging 1.00
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
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'- ACTTGTGTCTCATGCTACCCAG -3'
(R):5'- ACCCAAGGACTCATATGCGC -3'

Sequencing Primer
(F):5'- TCATGCTACCCAGGGCTCATG -3'
(R):5'- AGGACTCATATGCGCCCACG -3'
Posted On 2019-10-07