Incidental Mutation 'R8790:Nin'
ID 670892
Institutional Source Beutler Lab
Gene Symbol Nin
Ensembl Gene ENSMUSG00000021068
Gene Name ninein
Synonyms 3110068G20Rik
MMRRC Submission 068634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8790 (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 C at 70067793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1945 (R1945G)
Ref Sequence ENSEMBL: ENSMUSP00000082422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021468] [ENSMUST00000085314] [ENSMUST00000095666] [ENSMUST00000169074] [ENSMUST00000220689] [ENSMUST00000222237] [ENSMUST00000223257]
AlphaFold Q61043
Predicted Effect possibly damaging
Transcript: ENSMUST00000021468
AA Change: R1954G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021468
Gene: ENSMUSG00000021068
AA Change: R1954G

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: R1945G

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: R1954G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093327
Gene: ENSMUSG00000021068
AA Change: R1954G

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: R1954G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129648
Gene: ENSMUSG00000021068
AA Change: R1954G

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: E1267G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000223257
AA Change: E1974G

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (83/83)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,928,285 (GRCm39) P68S possibly damaging Het
Abcb5 T A 12: 118,831,620 (GRCm39) N1244I possibly damaging Het
Abcb9 A G 5: 124,215,304 (GRCm39) I479T probably damaging Het
Abi3bp A T 16: 56,495,437 (GRCm39) I920F probably damaging Het
Adcy6 T A 15: 98,496,881 (GRCm39) T465S probably damaging Het
Ankrd12 A T 17: 66,290,153 (GRCm39) I1760N possibly damaging Het
Aoah C T 13: 21,035,840 (GRCm39) R140C probably benign Het
Bmp7 T A 2: 172,712,060 (GRCm39) D388V probably benign Het
Bphl C T 13: 34,244,468 (GRCm39) A195V probably benign Het
Cckar A G 5: 53,857,291 (GRCm39) V373A probably damaging Het
Cd79b T G 11: 106,202,873 (GRCm39) D243A possibly damaging Het
Cdc25a T A 9: 109,716,416 (GRCm39) probably null Het
Cfap57 T A 4: 118,439,111 (GRCm39) Q805L possibly damaging Het
Ckap2l A T 2: 129,111,172 (GRCm39) M675K possibly damaging Het
Cluap1 T A 16: 3,735,787 (GRCm39) probably benign Het
Cyp2b9 A G 7: 25,898,167 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,503,568 (GRCm39) G248S possibly damaging Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Dmkn G A 7: 30,463,449 (GRCm39) S34N probably benign Het
Dnaaf2 T C 12: 69,244,068 (GRCm39) D331G probably damaging Het
Dnah1 A T 14: 31,018,232 (GRCm39) Y1429N possibly damaging Het
Dnajc5b T A 3: 19,600,981 (GRCm39) L26Q probably damaging Het
Epb41l1 T G 2: 156,345,722 (GRCm39) F242V possibly damaging Het
Esam A T 9: 37,442,927 (GRCm39) I72F probably benign Het
Fam110a C T 2: 151,812,338 (GRCm39) R144H probably damaging Het
Fam186a T C 15: 99,841,024 (GRCm39) D1740G possibly damaging Het
Fam98a A G 17: 75,854,684 (GRCm39) F42L possibly damaging Het
Fras1 C T 5: 96,903,236 (GRCm39) P3038S probably damaging Het
Gm32742 C A 9: 51,059,140 (GRCm39) G1035C probably damaging Het
Irf5 T A 6: 29,535,026 (GRCm39) probably benign Het
Jam2 T A 16: 84,606,259 (GRCm39) I91K possibly damaging Het
Klhdc3 A G 17: 46,991,626 (GRCm39) probably benign Het
Lgi1 C T 19: 38,289,296 (GRCm39) S215F possibly damaging Het
Lrp1 G A 10: 127,374,946 (GRCm39) T4504I probably damaging Het
Mafa T A 15: 75,619,224 (GRCm39) H183L probably benign Het
Map2 T C 1: 66,477,997 (GRCm39) V1773A probably damaging Het
Mesp1 G A 7: 79,442,825 (GRCm39) R151* probably null Het
Mphosph9 T C 5: 124,453,736 (GRCm39) D192G probably damaging Het
Mthfr C A 4: 148,139,991 (GRCm39) D678E probably benign Het
Myo15a A C 11: 60,367,362 (GRCm39) T41P possibly damaging Het
Myo15a G T 11: 60,378,047 (GRCm39) R185L Het
Myom2 T G 8: 15,169,242 (GRCm39) L1136W probably damaging Het
Naa30 A G 14: 49,418,208 (GRCm39) D316G probably benign Het
Ngef T C 1: 87,405,319 (GRCm39) Q697R probably benign Het
Obox8 A T 7: 14,066,908 (GRCm39) Y45* probably null Het
Ocln C T 13: 100,642,727 (GRCm39) V452I probably benign Het
Oog3 T A 4: 143,885,710 (GRCm39) D296V possibly damaging Het
Or5a1 T C 19: 12,097,906 (GRCm39) N57D probably damaging Het
Or5h19 T C 16: 58,856,580 (GRCm39) I173M possibly damaging Het
Or8g4 T A 9: 39,662,204 (GRCm39) I174K probably damaging Het
Or8k35 T C 2: 86,424,278 (GRCm39) K298R possibly damaging Het
Papln T C 12: 83,823,918 (GRCm39) V499A probably benign Het
Paxip1 G T 5: 27,977,078 (GRCm39) P328Q unknown Het
Pcnx2 T C 8: 126,604,306 (GRCm39) H650R probably benign Het
Pcnx3 A T 19: 5,735,206 (GRCm39) V540E possibly damaging Het
Pnpla5 C T 15: 84,002,819 (GRCm39) G255R probably damaging Het
Ppdpf G T 2: 180,829,646 (GRCm39) E34* probably null Het
Pum3 T C 19: 27,394,199 (GRCm39) Y357C probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rasa3 A T 8: 13,727,391 (GRCm39) probably null Het
Rcor2 T A 19: 7,246,340 (GRCm39) M5K possibly damaging Het
Rere A G 4: 150,593,332 (GRCm39) T309A unknown Het
Ryr1 A T 7: 28,776,297 (GRCm39) I2250N probably damaging Het
Sema6c T C 3: 95,075,341 (GRCm39) V130A probably benign Het
Slc26a9 T A 1: 131,683,155 (GRCm39) S200T probably damaging Het
Slc38a10 A G 11: 120,023,519 (GRCm39) L299P possibly damaging Het
Smim10l1 G T 6: 133,084,848 (GRCm39) V72L unknown Het
Sptbn2 C A 19: 4,782,052 (GRCm39) F430L probably damaging Het
Svep1 T A 4: 58,118,145 (GRCm39) Y859F possibly damaging Het
Svil C A 18: 5,056,098 (GRCm39) Q324K possibly damaging Het
Tgfb1i1 A T 7: 127,852,049 (GRCm39) D377V probably damaging Het
Tmed10 C A 12: 85,390,254 (GRCm39) W203L probably damaging Het
Tmem51 T A 4: 141,765,056 (GRCm39) M1L possibly damaging Het
Tmprss11e A G 5: 86,855,259 (GRCm39) V382A probably benign Het
Tnfrsf13b G T 11: 61,038,350 (GRCm39) R211L possibly damaging Het
Tns3 A G 11: 8,468,273 (GRCm39) V317A probably damaging Het
Top3a G A 11: 60,631,363 (GRCm39) P1000S possibly damaging Het
Traj32 A T 14: 54,423,587 (GRCm39) I10F Het
Trav8-1 T A 14: 53,707,677 (GRCm39) C106S probably damaging Het
Trbv2 A G 6: 41,024,655 (GRCm39) I24V probably benign Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Vmn2r97 T A 17: 19,160,472 (GRCm39) C536S probably damaging Het
Zfp879 G T 11: 50,723,429 (GRCm39) C542* probably null Het
Znfx1 C T 2: 166,892,500 (GRCm39) 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
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
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'- CGGGAGAAGAACACTCTGTAC -3'
(R):5'- GAGTTATCTCCAGGGAGCAAC -3'

Sequencing Primer
(F):5'- AAGAACACTCTGTACCTGTGGTG -3'
(R):5'- GAGCAACAAAAGGGTTCTTCC -3'
Posted On 2021-04-30