Incidental Mutation 'IGL00472:Nin'
ID |
5984 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nin
|
Ensembl Gene |
ENSMUSG00000021068 |
Gene Name |
ninein |
Synonyms |
3110068G20Rik |
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00472
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
70011435-70113717 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 70030088 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 1064
(M1064I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152530
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021468]
[ENSMUST00000085314]
[ENSMUST00000095666]
[ENSMUST00000169074]
[ENSMUST00000220689]
[ENSMUST00000222237]
[ENSMUST00000222835]
[ENSMUST00000223257]
|
AlphaFold |
Q61043 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021468
AA Change: M1771I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000021468 Gene: ENSMUSG00000021068 AA Change: M1771I
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000085314
AA Change: M1771I
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000082422 Gene: ENSMUSG00000021068 AA Change: M1771I
Domain | Start | End | E-Value | Type |
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: M1771I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093327 Gene: ENSMUSG00000021068 AA Change: M1771I
Domain | Start | End | E-Value | Type |
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: M1771I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129648 Gene: ENSMUSG00000021068 AA Change: M1771I
Domain | Start | End | E-Value | Type |
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: M1064I
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221486
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222137
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222237
AA Change: M1771I
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222835
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223048
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223257
AA Change: M1771I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223469
|
Coding Region Coverage |
|
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
C |
T |
7: 81,095,653 |
|
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,564,430 |
I448F |
probably benign |
Het |
C2cd2l |
A |
G |
9: 44,317,103 |
L156P |
probably damaging |
Het |
Cbll1 |
G |
A |
12: 31,487,833 |
P308S |
probably damaging |
Het |
Ccl3 |
C |
T |
11: 83,648,641 |
S39N |
possibly damaging |
Het |
Cnih4 |
G |
T |
1: 181,162,094 |
G30C |
probably damaging |
Het |
Endod1 |
A |
T |
9: 14,356,753 |
F479I |
possibly damaging |
Het |
Gm572 |
T |
G |
4: 148,667,392 |
V238G |
possibly damaging |
Het |
Grhl1 |
G |
T |
12: 24,612,170 |
R536L |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,113,694 |
K269R |
probably benign |
Het |
Pnkd |
A |
G |
1: 74,285,922 |
K50E |
probably damaging |
Het |
Rpl39l |
A |
G |
16: 10,174,394 |
M29V |
probably benign |
Het |
Spata5 |
A |
G |
3: 37,436,644 |
H446R |
probably benign |
Het |
Strip2 |
C |
T |
6: 29,931,214 |
A388V |
probably benign |
Het |
Tex21 |
A |
T |
12: 76,206,797 |
N447K |
probably damaging |
Het |
Zfp760 |
A |
G |
17: 21,723,476 |
Y544C |
possibly damaging |
Het |
|
Other mutations in Nin |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00677:Nin
|
APN |
12 |
70026860 |
missense |
probably damaging |
1.00 |
IGL00823:Nin
|
APN |
12 |
70014793 |
missense |
probably benign |
0.01 |
IGL01103:Nin
|
APN |
12 |
70056758 |
missense |
probably damaging |
0.99 |
IGL01113:Nin
|
APN |
12 |
70031779 |
missense |
probably damaging |
1.00 |
IGL01420:Nin
|
APN |
12 |
70045414 |
missense |
probably benign |
0.08 |
IGL01556:Nin
|
APN |
12 |
70043188 |
missense |
probably benign |
0.01 |
IGL01663:Nin
|
APN |
12 |
70043665 |
missense |
possibly damaging |
0.72 |
IGL02002:Nin
|
APN |
12 |
70062699 |
nonsense |
probably null |
|
IGL02030:Nin
|
APN |
12 |
70045268 |
missense |
probably damaging |
1.00 |
IGL02202:Nin
|
APN |
12 |
70055436 |
missense |
probably damaging |
1.00 |
IGL02207:Nin
|
APN |
12 |
70056657 |
missense |
probably damaging |
0.99 |
IGL02257:Nin
|
APN |
12 |
70102691 |
missense |
possibly damaging |
0.71 |
IGL02394:Nin
|
APN |
12 |
70044031 |
missense |
probably damaging |
1.00 |
IGL02531:Nin
|
APN |
12 |
70020932 |
missense |
probably benign |
0.02 |
IGL03028:Nin
|
APN |
12 |
70035270 |
missense |
probably benign |
0.13 |
IGL03155:Nin
|
APN |
12 |
70031770 |
missense |
probably damaging |
1.00 |
IGL03197:Nin
|
APN |
12 |
70026810 |
missense |
probably benign |
0.03 |
IGL02835:Nin
|
UTSW |
12 |
70056738 |
missense |
probably damaging |
1.00 |
R0131:Nin
|
UTSW |
12 |
70051141 |
missense |
probably damaging |
1.00 |
R0131:Nin
|
UTSW |
12 |
70051141 |
missense |
probably damaging |
1.00 |
R0132:Nin
|
UTSW |
12 |
70051141 |
missense |
probably damaging |
1.00 |
R0211:Nin
|
UTSW |
12 |
70014875 |
missense |
probably damaging |
1.00 |
R0211:Nin
|
UTSW |
12 |
70014875 |
missense |
probably damaging |
1.00 |
R0734:Nin
|
UTSW |
12 |
70030113 |
missense |
probably benign |
0.01 |
R0947:Nin
|
UTSW |
12 |
70061186 |
missense |
probably damaging |
1.00 |
R1085:Nin
|
UTSW |
12 |
70020962 |
missense |
possibly damaging |
0.91 |
R1367:Nin
|
UTSW |
12 |
70043929 |
missense |
probably damaging |
0.99 |
R1452:Nin
|
UTSW |
12 |
70017650 |
nonsense |
probably null |
|
R1477:Nin
|
UTSW |
12 |
70044184 |
missense |
possibly damaging |
0.87 |
R1518:Nin
|
UTSW |
12 |
70014773 |
missense |
probably benign |
0.27 |
R1566:Nin
|
UTSW |
12 |
70054479 |
missense |
probably damaging |
0.99 |
R1572:Nin
|
UTSW |
12 |
70038750 |
missense |
probably damaging |
1.00 |
R1583:Nin
|
UTSW |
12 |
70031738 |
missense |
probably benign |
|
R1584:Nin
|
UTSW |
12 |
70042669 |
missense |
probably benign |
0.03 |
R1699:Nin
|
UTSW |
12 |
70030938 |
missense |
probably benign |
0.40 |
R1699:Nin
|
UTSW |
12 |
70045563 |
missense |
possibly damaging |
0.87 |
R1765:Nin
|
UTSW |
12 |
70042891 |
missense |
probably damaging |
1.00 |
R1794:Nin
|
UTSW |
12 |
70043795 |
nonsense |
probably null |
|
R1952:Nin
|
UTSW |
12 |
70030926 |
missense |
probably damaging |
1.00 |
R2004:Nin
|
UTSW |
12 |
70025477 |
missense |
probably benign |
0.01 |
R2025:Nin
|
UTSW |
12 |
70030008 |
missense |
probably damaging |
1.00 |
R2060:Nin
|
UTSW |
12 |
70042418 |
missense |
possibly damaging |
0.64 |
R2213:Nin
|
UTSW |
12 |
70045354 |
missense |
probably damaging |
1.00 |
R2224:Nin
|
UTSW |
12 |
70061230 |
missense |
probably damaging |
1.00 |
R2247:Nin
|
UTSW |
12 |
70054545 |
missense |
probably damaging |
1.00 |
R2972:Nin
|
UTSW |
12 |
70062713 |
missense |
probably damaging |
1.00 |
R3776:Nin
|
UTSW |
12 |
70038682 |
missense |
possibly damaging |
0.71 |
R3881:Nin
|
UTSW |
12 |
70042541 |
missense |
probably benign |
0.00 |
R3930:Nin
|
UTSW |
12 |
70078242 |
missense |
probably damaging |
1.00 |
R3959:Nin
|
UTSW |
12 |
70050752 |
missense |
probably damaging |
1.00 |
R4229:Nin
|
UTSW |
12 |
70051210 |
missense |
probably damaging |
0.99 |
R4359:Nin
|
UTSW |
12 |
70014938 |
missense |
probably benign |
0.00 |
R4423:Nin
|
UTSW |
12 |
70042978 |
missense |
probably damaging |
1.00 |
R4461:Nin
|
UTSW |
12 |
70042585 |
missense |
probably benign |
0.37 |
R4639:Nin
|
UTSW |
12 |
70038601 |
missense |
probably damaging |
0.97 |
R4791:Nin
|
UTSW |
12 |
70043807 |
missense |
possibly damaging |
0.94 |
R4839:Nin
|
UTSW |
12 |
70090551 |
missense |
possibly damaging |
0.46 |
R4912:Nin
|
UTSW |
12 |
70044063 |
missense |
probably damaging |
1.00 |
R5712:Nin
|
UTSW |
12 |
70042769 |
missense |
probably damaging |
1.00 |
R5726:Nin
|
UTSW |
12 |
70078179 |
missense |
probably damaging |
1.00 |
R5804:Nin
|
UTSW |
12 |
70045601 |
missense |
possibly damaging |
0.58 |
R5874:Nin
|
UTSW |
12 |
70030918 |
missense |
possibly damaging |
0.94 |
R5992:Nin
|
UTSW |
12 |
70045524 |
missense |
possibly damaging |
0.83 |
R6077:Nin
|
UTSW |
12 |
70019232 |
missense |
probably damaging |
1.00 |
R6184:Nin
|
UTSW |
12 |
70043737 |
missense |
probably damaging |
1.00 |
R6307:Nin
|
UTSW |
12 |
70014857 |
missense |
possibly damaging |
0.91 |
R6315:Nin
|
UTSW |
12 |
70045615 |
missense |
probably damaging |
1.00 |
R6326:Nin
|
UTSW |
12 |
70045181 |
missense |
possibly damaging |
0.95 |
R6492:Nin
|
UTSW |
12 |
70054534 |
missense |
probably benign |
0.22 |
R6562:Nin
|
UTSW |
12 |
70055954 |
missense |
probably damaging |
1.00 |
R6578:Nin
|
UTSW |
12 |
70061194 |
missense |
probably damaging |
0.99 |
R6613:Nin
|
UTSW |
12 |
70030954 |
missense |
probably damaging |
1.00 |
R7112:Nin
|
UTSW |
12 |
70102799 |
missense |
|
|
R7170:Nin
|
UTSW |
12 |
70044239 |
missense |
|
|
R7324:Nin
|
UTSW |
12 |
70043734 |
missense |
|
|
R7338:Nin
|
UTSW |
12 |
70044064 |
missense |
|
|
R7372:Nin
|
UTSW |
12 |
70056029 |
missense |
|
|
R7431:Nin
|
UTSW |
12 |
70078223 |
missense |
|
|
R7577:Nin
|
UTSW |
12 |
70062706 |
missense |
|
|
R7655:Nin
|
UTSW |
12 |
70042768 |
missense |
|
|
R7656:Nin
|
UTSW |
12 |
70042768 |
missense |
|
|
R7683:Nin
|
UTSW |
12 |
70078182 |
missense |
|
|
R7769:Nin
|
UTSW |
12 |
70043230 |
missense |
|
|
R7981:Nin
|
UTSW |
12 |
70042817 |
missense |
|
|
R8138:Nin
|
UTSW |
12 |
70042898 |
missense |
|
|
R8141:Nin
|
UTSW |
12 |
70030021 |
missense |
|
|
R8754:Nin
|
UTSW |
12 |
70031013 |
intron |
probably benign |
|
R8790:Nin
|
UTSW |
12 |
70021019 |
missense |
|
|
R8899:Nin
|
UTSW |
12 |
70030936 |
missense |
probably damaging |
1.00 |
R8974:Nin
|
UTSW |
12 |
70078158 |
missense |
|
|
R9085:Nin
|
UTSW |
12 |
70030012 |
nonsense |
probably null |
|
R9143:Nin
|
UTSW |
12 |
70090575 |
missense |
|
|
R9380:Nin
|
UTSW |
12 |
70028031 |
missense |
|
|
Z1176:Nin
|
UTSW |
12 |
70049164 |
critical splice acceptor site |
probably null |
|
Z1177:Nin
|
UTSW |
12 |
70044095 |
missense |
|
|
Z1177:Nin
|
UTSW |
12 |
70054426 |
missense |
|
|
|
Posted On |
2012-04-20 |