Incidental Mutation 'IGL00531:Nav3'
ID | 12248 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nav3
|
Ensembl Gene |
ENSMUSG00000020181 |
Gene Name | neuron navigator 3 |
Synonyms | POMFIL1, 9630020C08Rik, 4732483H20Rik, unc53H3, steerin 3, Pomfil1p |
Accession Numbers | |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL00531
|
Quality Score | |
Status |
|
Chromosome | 10 |
Chromosomal Location | 109681259-110456204 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 109703310 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 2077
(S2077G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032719]
|
Predicted Effect |
probably null
Transcript: ENSMUST00000032719
AA Change: S2077G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000032719 Gene: ENSMUSG00000020181 AA Change: S2077G
Domain | Start | End | E-Value | Type |
CH
|
79 |
182 |
4.41e-12 |
SMART |
low complexity region
|
184 |
194 |
N/A |
INTRINSIC |
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
low complexity region
|
353 |
363 |
N/A |
INTRINSIC |
low complexity region
|
427 |
439 |
N/A |
INTRINSIC |
low complexity region
|
522 |
536 |
N/A |
INTRINSIC |
low complexity region
|
713 |
724 |
N/A |
INTRINSIC |
low complexity region
|
807 |
818 |
N/A |
INTRINSIC |
low complexity region
|
873 |
896 |
N/A |
INTRINSIC |
low complexity region
|
904 |
916 |
N/A |
INTRINSIC |
low complexity region
|
1077 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1160 |
1173 |
N/A |
INTRINSIC |
low complexity region
|
1207 |
1229 |
N/A |
INTRINSIC |
low complexity region
|
1256 |
1266 |
N/A |
INTRINSIC |
low complexity region
|
1274 |
1285 |
N/A |
INTRINSIC |
low complexity region
|
1293 |
1312 |
N/A |
INTRINSIC |
low complexity region
|
1327 |
1341 |
N/A |
INTRINSIC |
low complexity region
|
1383 |
1397 |
N/A |
INTRINSIC |
low complexity region
|
1462 |
1474 |
N/A |
INTRINSIC |
low complexity region
|
1550 |
1563 |
N/A |
INTRINSIC |
coiled coil region
|
1565 |
1656 |
N/A |
INTRINSIC |
low complexity region
|
1675 |
1692 |
N/A |
INTRINSIC |
low complexity region
|
1722 |
1733 |
N/A |
INTRINSIC |
low complexity region
|
1756 |
1781 |
N/A |
INTRINSIC |
low complexity region
|
1782 |
1795 |
N/A |
INTRINSIC |
coiled coil region
|
1801 |
1842 |
N/A |
INTRINSIC |
low complexity region
|
1848 |
1871 |
N/A |
INTRINSIC |
AAA
|
2029 |
2184 |
4.94e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161582
|
SMART Domains |
Protein: ENSMUSP00000124591 Gene: ENSMUSG00000020181
Domain | Start | End | E-Value | Type |
low complexity region
|
84 |
95 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
low complexity region
|
354 |
372 |
N/A |
INTRINSIC |
low complexity region
|
437 |
450 |
N/A |
INTRINSIC |
low complexity region
|
484 |
506 |
N/A |
INTRINSIC |
low complexity region
|
533 |
543 |
N/A |
INTRINSIC |
low complexity region
|
551 |
562 |
N/A |
INTRINSIC |
low complexity region
|
570 |
589 |
N/A |
INTRINSIC |
low complexity region
|
604 |
618 |
N/A |
INTRINSIC |
low complexity region
|
660 |
674 |
N/A |
INTRINSIC |
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
low complexity region
|
827 |
840 |
N/A |
INTRINSIC |
coiled coil region
|
842 |
933 |
N/A |
INTRINSIC |
low complexity region
|
952 |
969 |
N/A |
INTRINSIC |
low complexity region
|
992 |
1003 |
N/A |
INTRINSIC |
low complexity region
|
1026 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1052 |
1065 |
N/A |
INTRINSIC |
coiled coil region
|
1071 |
1112 |
N/A |
INTRINSIC |
low complexity region
|
1118 |
1141 |
N/A |
INTRINSIC |
AAA
|
1299 |
1454 |
4.94e-7 |
SMART |
|
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 belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Dnah17 |
A |
G |
11: 118,043,173 |
I3525T |
probably damaging |
Het |
Ednrb |
T |
C |
14: 103,820,019 |
Y369C |
probably damaging |
Het |
Folh1 |
T |
A |
7: 86,719,769 |
I717L |
possibly damaging |
Het |
Golga2 |
T |
A |
2: 32,305,214 |
D706E |
probably benign |
Het |
Miip |
C |
A |
4: 147,865,865 |
W91C |
probably damaging |
Het |
Nsrp1 |
G |
A |
11: 77,046,195 |
R392* |
probably null |
Het |
Ryr3 |
T |
C |
2: 112,663,012 |
|
probably benign |
Het |
Son |
A |
G |
16: 91,664,322 |
K177R |
probably damaging |
Het |
Stau1 |
A |
G |
2: 166,964,622 |
S13P |
probably benign |
Het |
Tnc |
G |
A |
4: 63,971,153 |
|
probably benign |
Het |
Vezf1 |
G |
A |
11: 88,073,494 |
M157I |
probably benign |
Het |
Zfp281 |
T |
A |
1: 136,627,910 |
D875E |
probably damaging |
Het |
|
Other mutations in Nav3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Nav3
|
APN |
10 |
109841733 |
missense |
probably damaging |
0.99 |
IGL00425:Nav3
|
APN |
10 |
109703507 |
missense |
probably benign |
0.13 |
IGL00465:Nav3
|
APN |
10 |
109852746 |
missense |
probably damaging |
0.99 |
IGL00575:Nav3
|
APN |
10 |
109764765 |
missense |
probably damaging |
0.98 |
IGL00770:Nav3
|
APN |
10 |
109816263 |
missense |
probably damaging |
1.00 |
IGL00774:Nav3
|
APN |
10 |
109816263 |
missense |
probably damaging |
1.00 |
IGL00858:Nav3
|
APN |
10 |
109742632 |
missense |
probably damaging |
0.98 |
IGL00935:Nav3
|
APN |
10 |
109705666 |
missense |
probably benign |
|
IGL01638:Nav3
|
APN |
10 |
109852863 |
missense |
probably damaging |
1.00 |
IGL01662:Nav3
|
APN |
10 |
109769258 |
missense |
possibly damaging |
0.56 |
IGL01670:Nav3
|
APN |
10 |
109714241 |
missense |
possibly damaging |
0.92 |
IGL01885:Nav3
|
APN |
10 |
109742660 |
nonsense |
probably null |
|
IGL01979:Nav3
|
APN |
10 |
109704929 |
missense |
probably benign |
0.01 |
IGL02121:Nav3
|
APN |
10 |
109759036 |
missense |
probably damaging |
0.99 |
IGL02210:Nav3
|
APN |
10 |
109766990 |
missense |
probably benign |
|
IGL02523:Nav3
|
APN |
10 |
109769296 |
missense |
probably damaging |
1.00 |
IGL02573:Nav3
|
APN |
10 |
109866974 |
missense |
probably benign |
0.23 |
IGL02633:Nav3
|
APN |
10 |
109692136 |
missense |
probably benign |
0.09 |
IGL02810:Nav3
|
APN |
10 |
109816274 |
missense |
probably damaging |
1.00 |
IGL02964:Nav3
|
APN |
10 |
109736953 |
missense |
probably damaging |
0.99 |
IGL03015:Nav3
|
APN |
10 |
109718297 |
missense |
probably damaging |
0.98 |
IGL03288:Nav3
|
APN |
10 |
109759017 |
missense |
probably damaging |
1.00 |
IGL03310:Nav3
|
APN |
10 |
109824572 |
critical splice donor site |
probably null |
|
PIT4377001:Nav3
|
UTSW |
10 |
109716605 |
missense |
probably damaging |
0.99 |
R0010:Nav3
|
UTSW |
10 |
109823226 |
splice site |
probably benign |
|
R0043:Nav3
|
UTSW |
10 |
109767518 |
missense |
possibly damaging |
0.95 |
R0053:Nav3
|
UTSW |
10 |
109766917 |
splice site |
probably benign |
|
R0053:Nav3
|
UTSW |
10 |
109766917 |
splice site |
probably benign |
|
R0077:Nav3
|
UTSW |
10 |
109716642 |
missense |
possibly damaging |
0.87 |
R0219:Nav3
|
UTSW |
10 |
109866930 |
critical splice donor site |
probably null |
|
R0310:Nav3
|
UTSW |
10 |
109767128 |
missense |
possibly damaging |
0.82 |
R0380:Nav3
|
UTSW |
10 |
109758879 |
splice site |
probably benign |
|
R0403:Nav3
|
UTSW |
10 |
109767103 |
missense |
probably damaging |
0.98 |
R0480:Nav3
|
UTSW |
10 |
109853300 |
missense |
probably damaging |
1.00 |
R0626:Nav3
|
UTSW |
10 |
109823464 |
missense |
probably damaging |
1.00 |
R0637:Nav3
|
UTSW |
10 |
109770197 |
missense |
probably benign |
0.25 |
R0847:Nav3
|
UTSW |
10 |
109903857 |
missense |
possibly damaging |
0.94 |
R0988:Nav3
|
UTSW |
10 |
109716528 |
missense |
probably damaging |
1.00 |
R1272:Nav3
|
UTSW |
10 |
109736999 |
missense |
probably damaging |
0.98 |
R1295:Nav3
|
UTSW |
10 |
109692102 |
missense |
probably damaging |
1.00 |
R1405:Nav3
|
UTSW |
10 |
109770333 |
splice site |
probably benign |
|
R1406:Nav3
|
UTSW |
10 |
109883634 |
missense |
possibly damaging |
0.64 |
R1406:Nav3
|
UTSW |
10 |
109883634 |
missense |
possibly damaging |
0.64 |
R1420:Nav3
|
UTSW |
10 |
109823254 |
missense |
probably benign |
0.02 |
R1449:Nav3
|
UTSW |
10 |
109853511 |
missense |
probably benign |
0.13 |
R1458:Nav3
|
UTSW |
10 |
109720044 |
missense |
probably damaging |
1.00 |
R1469:Nav3
|
UTSW |
10 |
109760508 |
missense |
probably damaging |
1.00 |
R1469:Nav3
|
UTSW |
10 |
109760508 |
missense |
probably damaging |
1.00 |
R1472:Nav3
|
UTSW |
10 |
109727941 |
missense |
probably damaging |
0.99 |
R1537:Nav3
|
UTSW |
10 |
109866985 |
missense |
probably damaging |
1.00 |
R1539:Nav3
|
UTSW |
10 |
109767170 |
missense |
probably damaging |
0.99 |
R1581:Nav3
|
UTSW |
10 |
109823428 |
missense |
probably damaging |
1.00 |
R1586:Nav3
|
UTSW |
10 |
109853254 |
missense |
probably damaging |
1.00 |
R1654:Nav3
|
UTSW |
10 |
109853123 |
missense |
possibly damaging |
0.85 |
R1725:Nav3
|
UTSW |
10 |
109823590 |
missense |
probably damaging |
1.00 |
R1742:Nav3
|
UTSW |
10 |
109769213 |
missense |
probably benign |
|
R1793:Nav3
|
UTSW |
10 |
109703372 |
missense |
probably benign |
0.00 |
R1830:Nav3
|
UTSW |
10 |
109823323 |
missense |
probably damaging |
1.00 |
R1834:Nav3
|
UTSW |
10 |
109720022 |
missense |
probably damaging |
0.99 |
R1881:Nav3
|
UTSW |
10 |
109852559 |
missense |
probably damaging |
0.96 |
R1922:Nav3
|
UTSW |
10 |
109705606 |
missense |
probably benign |
0.43 |
R1944:Nav3
|
UTSW |
10 |
109716530 |
missense |
probably damaging |
0.99 |
R1981:Nav3
|
UTSW |
10 |
109719090 |
splice site |
probably benign |
|
R1985:Nav3
|
UTSW |
10 |
109770184 |
splice site |
probably benign |
|
R1996:Nav3
|
UTSW |
10 |
109853401 |
missense |
probably damaging |
1.00 |
R2051:Nav3
|
UTSW |
10 |
109824675 |
missense |
probably damaging |
0.99 |
R2062:Nav3
|
UTSW |
10 |
109720021 |
missense |
probably damaging |
1.00 |
R2139:Nav3
|
UTSW |
10 |
109853135 |
missense |
probably benign |
0.22 |
R2248:Nav3
|
UTSW |
10 |
109696227 |
missense |
probably damaging |
1.00 |
R2420:Nav3
|
UTSW |
10 |
109863813 |
missense |
probably damaging |
0.98 |
R2444:Nav3
|
UTSW |
10 |
109764915 |
missense |
probably benign |
0.09 |
R3026:Nav3
|
UTSW |
10 |
109824604 |
missense |
probably damaging |
0.99 |
R3052:Nav3
|
UTSW |
10 |
109903752 |
missense |
probably damaging |
0.99 |
R3441:Nav3
|
UTSW |
10 |
109704928 |
missense |
probably benign |
0.01 |
R3845:Nav3
|
UTSW |
10 |
109853376 |
missense |
possibly damaging |
0.82 |
R3929:Nav3
|
UTSW |
10 |
109684203 |
missense |
probably damaging |
1.00 |
R3932:Nav3
|
UTSW |
10 |
109694035 |
missense |
probably damaging |
0.99 |
R4056:Nav3
|
UTSW |
10 |
109880533 |
critical splice donor site |
probably null |
|
R4057:Nav3
|
UTSW |
10 |
109880533 |
critical splice donor site |
probably null |
|
R4120:Nav3
|
UTSW |
10 |
109903744 |
critical splice donor site |
probably null |
|
R4244:Nav3
|
UTSW |
10 |
109769296 |
missense |
probably damaging |
1.00 |
R4361:Nav3
|
UTSW |
10 |
109852986 |
missense |
probably damaging |
1.00 |
R4512:Nav3
|
UTSW |
10 |
109694082 |
missense |
possibly damaging |
0.89 |
R4514:Nav3
|
UTSW |
10 |
109694082 |
missense |
possibly damaging |
0.89 |
R4700:Nav3
|
UTSW |
10 |
109764935 |
missense |
probably benign |
0.10 |
R4815:Nav3
|
UTSW |
10 |
109823552 |
missense |
probably benign |
|
R4981:Nav3
|
UTSW |
10 |
109880692 |
missense |
probably benign |
|
R5042:Nav3
|
UTSW |
10 |
109769268 |
missense |
probably benign |
0.27 |
R5251:Nav3
|
UTSW |
10 |
109853253 |
missense |
probably damaging |
0.99 |
R5252:Nav3
|
UTSW |
10 |
109714291 |
small deletion |
probably benign |
|
R5273:Nav3
|
UTSW |
10 |
109693038 |
critical splice donor site |
probably null |
|
R5288:Nav3
|
UTSW |
10 |
109853105 |
missense |
probably benign |
0.10 |
R5407:Nav3
|
UTSW |
10 |
109866935 |
missense |
probably benign |
0.28 |
R5533:Nav3
|
UTSW |
10 |
109883678 |
missense |
possibly damaging |
0.61 |
R5561:Nav3
|
UTSW |
10 |
109716552 |
missense |
probably damaging |
1.00 |
R5577:Nav3
|
UTSW |
10 |
109769403 |
missense |
probably damaging |
1.00 |
R5656:Nav3
|
UTSW |
10 |
109764633 |
missense |
probably damaging |
0.96 |
R5872:Nav3
|
UTSW |
10 |
109764787 |
missense |
probably damaging |
1.00 |
R6023:Nav3
|
UTSW |
10 |
109823515 |
missense |
possibly damaging |
0.95 |
R6061:Nav3
|
UTSW |
10 |
109866984 |
nonsense |
probably null |
|
R6189:Nav3
|
UTSW |
10 |
109720019 |
missense |
probably damaging |
0.98 |
R6214:Nav3
|
UTSW |
10 |
109852565 |
missense |
probably damaging |
1.00 |
R6215:Nav3
|
UTSW |
10 |
109852565 |
missense |
probably damaging |
1.00 |
R6264:Nav3
|
UTSW |
10 |
109688833 |
missense |
probably damaging |
0.97 |
R6500:Nav3
|
UTSW |
10 |
109764756 |
missense |
probably damaging |
1.00 |
R6524:Nav3
|
UTSW |
10 |
109720030 |
missense |
probably damaging |
0.99 |
R6868:Nav3
|
UTSW |
10 |
109693166 |
missense |
possibly damaging |
0.49 |
R7079:Nav3
|
UTSW |
10 |
109767292 |
missense |
probably benign |
0.16 |
R7099:Nav3
|
UTSW |
10 |
109703334 |
missense |
probably benign |
0.11 |
R7139:Nav3
|
UTSW |
10 |
109853477 |
missense |
probably benign |
0.44 |
R7238:Nav3
|
UTSW |
10 |
109853324 |
missense |
possibly damaging |
0.75 |
R7338:Nav3
|
UTSW |
10 |
109769212 |
missense |
probably benign |
0.04 |
R7343:Nav3
|
UTSW |
10 |
109903758 |
missense |
probably damaging |
0.98 |
R7383:Nav3
|
UTSW |
10 |
109716671 |
missense |
probably damaging |
0.98 |
R7391:Nav3
|
UTSW |
10 |
109703456 |
missense |
probably benign |
0.07 |
R7399:Nav3
|
UTSW |
10 |
109852934 |
missense |
possibly damaging |
0.74 |
R7457:Nav3
|
UTSW |
10 |
109696328 |
nonsense |
probably null |
|
R7462:Nav3
|
UTSW |
10 |
109823578 |
missense |
probably damaging |
1.00 |
R7542:Nav3
|
UTSW |
10 |
109823533 |
missense |
possibly damaging |
0.89 |
R7659:Nav3
|
UTSW |
10 |
109766990 |
missense |
probably benign |
0.09 |
R7749:Nav3
|
UTSW |
10 |
109703352 |
missense |
probably damaging |
0.99 |
R7794:Nav3
|
UTSW |
10 |
109688856 |
missense |
probably benign |
0.08 |
R7876:Nav3
|
UTSW |
10 |
109853498 |
missense |
probably benign |
0.26 |
R8048:Nav3
|
UTSW |
10 |
109764918 |
missense |
probably benign |
0.13 |
R8104:Nav3
|
UTSW |
10 |
109758967 |
missense |
probably damaging |
0.99 |
R8125:Nav3
|
UTSW |
10 |
109852659 |
missense |
probably damaging |
0.99 |
R8275:Nav3
|
UTSW |
10 |
109692123 |
missense |
noncoding transcript |
|
R8325:Nav3
|
UTSW |
10 |
109705603 |
missense |
probably benign |
0.24 |
R8336:Nav3
|
UTSW |
10 |
109767569 |
missense |
probably damaging |
0.99 |
X0012:Nav3
|
UTSW |
10 |
109692097 |
missense |
probably damaging |
1.00 |
|
Posted On | 2012-12-06 |