Incidental Mutation 'IGL01532:Nes'
ID |
89810 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nes
|
Ensembl Gene |
ENSMUSG00000004891 |
Gene Name |
nestin |
Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.547)
|
Stock # |
IGL01532
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
87878400-87887758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 87885654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1260
(D1260E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090973]
[ENSMUST00000160694]
|
AlphaFold |
Q6P5H2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090973
AA Change: D1304E
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000088493 Gene: ENSMUSG00000004891 AA Change: D1304E
Domain | Start | End | E-Value | Type |
Filament
|
7 |
313 |
1.81e-37 |
SMART |
low complexity region
|
439 |
448 |
N/A |
INTRINSIC |
internal_repeat_2
|
470 |
771 |
2.37e-7 |
PROSPERO |
internal_repeat_1
|
614 |
832 |
5.41e-11 |
PROSPERO |
internal_repeat_2
|
851 |
1174 |
2.37e-7 |
PROSPERO |
internal_repeat_1
|
1064 |
1304 |
5.41e-11 |
PROSPERO |
low complexity region
|
1347 |
1366 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1438 |
N/A |
INTRINSIC |
low complexity region
|
1653 |
1683 |
N/A |
INTRINSIC |
low complexity region
|
1713 |
1724 |
N/A |
INTRINSIC |
low complexity region
|
1741 |
1760 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159830
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160694
AA Change: D1260E
PolyPhen 2
Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125571 Gene: ENSMUSG00000004891 AA Change: D1260E
Domain | Start | End | E-Value | Type |
Pfam:Filament
|
7 |
313 |
3.5e-29 |
PFAM |
low complexity region
|
439 |
448 |
N/A |
INTRINSIC |
internal_repeat_2
|
456 |
672 |
1.06e-5 |
PROSPERO |
internal_repeat_1
|
470 |
798 |
1.21e-11 |
PROSPERO |
internal_repeat_1
|
807 |
1134 |
1.21e-11 |
PROSPERO |
internal_repeat_2
|
1024 |
1213 |
1.06e-5 |
PROSPERO |
low complexity region
|
1303 |
1322 |
N/A |
INTRINSIC |
low complexity region
|
1382 |
1394 |
N/A |
INTRINSIC |
low complexity region
|
1609 |
1639 |
N/A |
INTRINSIC |
low complexity region
|
1669 |
1680 |
N/A |
INTRINSIC |
low complexity region
|
1697 |
1716 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display a high incidence of embryonic lethality, reduced embryo and birth body size, and fewer neural stem cells and increased apoptosis in the neuroepithelium of the developing neural tube. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
C |
A |
7: 66,558,349 (GRCm39) |
N264K |
probably damaging |
Het |
Adgrl3 |
C |
T |
5: 81,842,416 (GRCm39) |
T260I |
probably damaging |
Het |
Ambra1 |
G |
T |
2: 91,715,977 (GRCm39) |
K769N |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,980,936 (GRCm39) |
V357A |
possibly damaging |
Het |
Atp11b |
T |
A |
3: 35,903,651 (GRCm39) |
C76* |
probably null |
Het |
AW112010 |
C |
A |
19: 11,025,433 (GRCm39) |
|
noncoding transcript |
Het |
Bfar |
A |
T |
16: 13,505,251 (GRCm39) |
|
probably benign |
Het |
Ccdc70 |
T |
G |
8: 22,463,299 (GRCm39) |
L30V |
probably damaging |
Het |
Cep20 |
A |
G |
16: 14,122,375 (GRCm39) |
S130P |
probably benign |
Het |
Chrm5 |
C |
T |
2: 112,309,577 (GRCm39) |
R513Q |
probably benign |
Het |
Crem |
G |
A |
18: 3,276,732 (GRCm39) |
T7I |
probably benign |
Het |
Cyp4f39 |
C |
T |
17: 32,689,928 (GRCm39) |
|
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,208,660 (GRCm39) |
T849A |
probably benign |
Het |
Dock8 |
G |
T |
19: 25,146,805 (GRCm39) |
G1428V |
probably damaging |
Het |
Eomes |
T |
C |
9: 118,311,317 (GRCm39) |
I380T |
probably damaging |
Het |
Fam13a |
T |
C |
6: 58,917,280 (GRCm39) |
D532G |
probably damaging |
Het |
Gm10061 |
G |
T |
16: 88,948,190 (GRCm39) |
*55L |
probably null |
Het |
Gm27438 |
T |
G |
2: 87,083,269 (GRCm39) |
|
probably benign |
Het |
Gpalpp1 |
T |
C |
14: 76,339,942 (GRCm39) |
K124E |
probably benign |
Het |
Hgs |
T |
A |
11: 120,368,335 (GRCm39) |
|
probably null |
Het |
Hpn |
T |
A |
7: 30,802,938 (GRCm39) |
M121L |
possibly damaging |
Het |
Il1r1 |
T |
C |
1: 40,334,088 (GRCm39) |
|
probably null |
Het |
Jag2 |
A |
T |
12: 112,877,983 (GRCm39) |
C583S |
probably damaging |
Het |
Katnal2 |
T |
C |
18: 77,099,696 (GRCm39) |
H146R |
probably benign |
Het |
Ldah |
T |
C |
12: 8,270,596 (GRCm39) |
|
probably benign |
Het |
Lvrn |
T |
A |
18: 47,033,551 (GRCm39) |
Y921N |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,423,743 (GRCm39) |
Y4572C |
possibly damaging |
Het |
Myo16 |
A |
G |
8: 10,450,551 (GRCm39) |
S518G |
probably benign |
Het |
Ncf1 |
T |
C |
5: 134,255,447 (GRCm39) |
N148S |
probably benign |
Het |
Nup210 |
C |
A |
6: 91,062,981 (GRCm39) |
|
probably benign |
Het |
Or52b4i |
T |
C |
7: 102,191,863 (GRCm39) |
L240P |
probably damaging |
Het |
Rnf31 |
C |
A |
14: 55,840,080 (GRCm39) |
Q968K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,967,034 (GRCm39) |
|
probably benign |
Het |
Ryk |
T |
C |
9: 102,774,465 (GRCm39) |
Y400H |
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,250,022 (GRCm39) |
|
probably null |
Het |
Sptssb |
A |
G |
3: 69,728,202 (GRCm39) |
|
probably benign |
Het |
Sstr5 |
T |
C |
17: 25,710,305 (GRCm39) |
D308G |
probably damaging |
Het |
Taf2 |
A |
G |
15: 54,912,882 (GRCm39) |
W493R |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
Vti1b |
A |
C |
12: 79,211,912 (GRCm39) |
L1W |
probably null |
Het |
Wdr1 |
T |
C |
5: 38,692,530 (GRCm39) |
Y125C |
probably damaging |
Het |
|
Other mutations in Nes |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Nes
|
APN |
3 |
87,883,561 (GRCm39) |
nonsense |
probably null |
|
IGL01544:Nes
|
APN |
3 |
87,885,271 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02609:Nes
|
APN |
3 |
87,884,528 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02877:Nes
|
APN |
3 |
87,882,968 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02937:Nes
|
APN |
3 |
87,887,186 (GRCm39) |
missense |
probably benign |
|
R0271:Nes
|
UTSW |
3 |
87,885,949 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0587:Nes
|
UTSW |
3 |
87,885,876 (GRCm39) |
missense |
probably benign |
0.08 |
R0625:Nes
|
UTSW |
3 |
87,884,479 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0741:Nes
|
UTSW |
3 |
87,886,274 (GRCm39) |
missense |
probably damaging |
0.98 |
R1256:Nes
|
UTSW |
3 |
87,883,883 (GRCm39) |
missense |
probably benign |
|
R1630:Nes
|
UTSW |
3 |
87,884,984 (GRCm39) |
missense |
probably benign |
0.32 |
R1702:Nes
|
UTSW |
3 |
87,883,286 (GRCm39) |
missense |
probably benign |
0.04 |
R1724:Nes
|
UTSW |
3 |
87,884,748 (GRCm39) |
missense |
probably benign |
|
R1738:Nes
|
UTSW |
3 |
87,883,728 (GRCm39) |
nonsense |
probably null |
|
R1853:Nes
|
UTSW |
3 |
87,883,114 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1946:Nes
|
UTSW |
3 |
87,885,821 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1971:Nes
|
UTSW |
3 |
87,885,634 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2013:Nes
|
UTSW |
3 |
87,883,985 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2111:Nes
|
UTSW |
3 |
87,884,618 (GRCm39) |
missense |
probably benign |
0.04 |
R2232:Nes
|
UTSW |
3 |
87,886,238 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2392:Nes
|
UTSW |
3 |
87,883,250 (GRCm39) |
missense |
probably benign |
0.08 |
R3548:Nes
|
UTSW |
3 |
87,880,429 (GRCm39) |
splice site |
probably benign |
|
R3937:Nes
|
UTSW |
3 |
87,878,543 (GRCm39) |
missense |
probably benign |
0.02 |
R4239:Nes
|
UTSW |
3 |
87,886,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R4240:Nes
|
UTSW |
3 |
87,886,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Nes
|
UTSW |
3 |
87,883,349 (GRCm39) |
missense |
probably damaging |
0.96 |
R4493:Nes
|
UTSW |
3 |
87,884,120 (GRCm39) |
missense |
probably damaging |
0.96 |
R4494:Nes
|
UTSW |
3 |
87,884,120 (GRCm39) |
missense |
probably damaging |
0.96 |
R4674:Nes
|
UTSW |
3 |
87,879,102 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4772:Nes
|
UTSW |
3 |
87,883,486 (GRCm39) |
missense |
probably benign |
0.02 |
R4959:Nes
|
UTSW |
3 |
87,882,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R4973:Nes
|
UTSW |
3 |
87,882,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R5055:Nes
|
UTSW |
3 |
87,884,521 (GRCm39) |
missense |
probably benign |
|
R5207:Nes
|
UTSW |
3 |
87,885,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R5289:Nes
|
UTSW |
3 |
87,885,725 (GRCm39) |
missense |
probably damaging |
0.98 |
R5420:Nes
|
UTSW |
3 |
87,884,309 (GRCm39) |
missense |
probably damaging |
0.99 |
R5424:Nes
|
UTSW |
3 |
87,886,131 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5697:Nes
|
UTSW |
3 |
87,885,155 (GRCm39) |
missense |
probably damaging |
0.96 |
R5940:Nes
|
UTSW |
3 |
87,883,259 (GRCm39) |
missense |
probably damaging |
0.99 |
R6661:Nes
|
UTSW |
3 |
87,884,243 (GRCm39) |
missense |
probably damaging |
0.96 |
R6905:Nes
|
UTSW |
3 |
87,885,985 (GRCm39) |
missense |
probably damaging |
0.99 |
R7087:Nes
|
UTSW |
3 |
87,887,065 (GRCm39) |
missense |
probably benign |
0.00 |
R7356:Nes
|
UTSW |
3 |
87,885,058 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7810:Nes
|
UTSW |
3 |
87,882,923 (GRCm39) |
missense |
probably benign |
0.02 |
R8039:Nes
|
UTSW |
3 |
87,884,315 (GRCm39) |
missense |
probably benign |
0.00 |
R8401:Nes
|
UTSW |
3 |
87,885,388 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8486:Nes
|
UTSW |
3 |
87,887,320 (GRCm39) |
missense |
probably damaging |
0.96 |
R8897:Nes
|
UTSW |
3 |
87,886,653 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9032:Nes
|
UTSW |
3 |
87,887,069 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9034:Nes
|
UTSW |
3 |
87,885,735 (GRCm39) |
missense |
probably damaging |
0.96 |
R9085:Nes
|
UTSW |
3 |
87,887,069 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9137:Nes
|
UTSW |
3 |
87,878,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R9177:Nes
|
UTSW |
3 |
87,887,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R9607:Nes
|
UTSW |
3 |
87,883,513 (GRCm39) |
missense |
probably benign |
|
X0019:Nes
|
UTSW |
3 |
87,884,725 (GRCm39) |
missense |
probably benign |
0.15 |
X0062:Nes
|
UTSW |
3 |
87,885,033 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-12-03 |