Incidental Mutation 'R1630:Nes'
ID |
172720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nes
|
Ensembl Gene |
ENSMUSG00000004891 |
Gene Name |
nestin |
Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
MMRRC Submission |
039667-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.503)
|
Stock # |
R1630 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87878400-87887758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87884984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1037
(V1037E)
|
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: V1081E
PolyPhen 2
Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000088493 Gene: ENSMUSG00000004891 AA Change: V1081E
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 |
probably benign
Transcript: ENSMUST00000160694
AA Change: V1037E
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000125571 Gene: ENSMUSG00000004891 AA Change: V1037E
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
Validation Efficiency |
100% (67/67) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429P17Rik |
C |
A |
13: 48,114,201 (GRCm39) |
|
noncoding transcript |
Het |
9930012K11Rik |
T |
C |
14: 70,394,629 (GRCm39) |
E175G |
probably benign |
Het |
A630091E08Rik |
A |
G |
7: 98,192,814 (GRCm39) |
|
noncoding transcript |
Het |
Atm |
A |
T |
9: 53,390,973 (GRCm39) |
L1867Q |
probably damaging |
Het |
Atp5f1a |
A |
G |
18: 77,865,267 (GRCm39) |
D63G |
possibly damaging |
Het |
Baz2b |
A |
T |
2: 59,836,474 (GRCm39) |
S20T |
unknown |
Het |
C1qtnf7 |
G |
A |
5: 43,766,503 (GRCm39) |
C34Y |
possibly damaging |
Het |
Cactin |
A |
G |
10: 81,159,559 (GRCm39) |
T353A |
probably benign |
Het |
Cdyl |
A |
G |
13: 35,867,786 (GRCm39) |
K21E |
possibly damaging |
Het |
Crispld1 |
A |
G |
1: 17,799,022 (GRCm39) |
T48A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,701,918 (GRCm39) |
T1722S |
possibly damaging |
Het |
Dapk1 |
A |
T |
13: 60,877,345 (GRCm39) |
E528V |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
Dnajc5b |
C |
A |
3: 19,628,905 (GRCm39) |
N66K |
probably damaging |
Het |
Dusp16 |
G |
T |
6: 134,697,524 (GRCm39) |
R250S |
probably damaging |
Het |
F10 |
A |
G |
8: 13,105,551 (GRCm39) |
N384S |
probably benign |
Het |
Gabrr2 |
A |
G |
4: 33,085,647 (GRCm39) |
S331G |
probably damaging |
Het |
Gm12185 |
A |
C |
11: 48,798,717 (GRCm39) |
I592S |
probably benign |
Het |
Gm9755 |
T |
C |
8: 67,967,312 (GRCm39) |
|
noncoding transcript |
Het |
Hspg2 |
T |
C |
4: 137,245,746 (GRCm39) |
L913P |
probably damaging |
Het |
Ifna1 |
T |
A |
4: 88,768,566 (GRCm39) |
S81R |
probably benign |
Het |
Iqgap2 |
T |
C |
13: 95,826,293 (GRCm39) |
K510E |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lhx6 |
A |
G |
2: 35,992,913 (GRCm39) |
Y140H |
probably damaging |
Het |
Lix1 |
A |
G |
17: 17,677,420 (GRCm39) |
H205R |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,698,490 (GRCm39) |
T524S |
probably benign |
Het |
Mndal |
A |
C |
1: 173,701,958 (GRCm39) |
F115V |
possibly damaging |
Het |
Morc3 |
C |
A |
16: 93,663,421 (GRCm39) |
N541K |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
Nfkbil1 |
A |
G |
17: 35,440,140 (GRCm39) |
W178R |
probably damaging |
Het |
Nobox |
A |
T |
6: 43,284,146 (GRCm39) |
C8* |
probably null |
Het |
Nwd1 |
A |
G |
8: 73,393,657 (GRCm39) |
T348A |
possibly damaging |
Het |
Or1e23 |
T |
C |
11: 73,407,546 (GRCm39) |
T160A |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,673 (GRCm39) |
S228P |
probably damaging |
Het |
Or8k17 |
A |
G |
2: 86,066,430 (GRCm39) |
S243P |
probably damaging |
Het |
Osbp2 |
T |
C |
11: 3,667,167 (GRCm39) |
T448A |
probably benign |
Het |
Plrg1 |
A |
G |
3: 82,966,070 (GRCm39) |
D75G |
probably benign |
Het |
Ppp1r8 |
T |
C |
4: 132,556,748 (GRCm39) |
E213G |
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,580,828 (GRCm39) |
F898L |
possibly damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rasl10a |
G |
C |
11: 5,009,542 (GRCm39) |
R110P |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,061,078 (GRCm39) |
I1082T |
probably benign |
Het |
Sema6d |
A |
G |
2: 124,506,265 (GRCm39) |
D734G |
possibly damaging |
Het |
Sgce |
C |
T |
6: 4,719,476 (GRCm39) |
V44M |
probably damaging |
Het |
Sgo2b |
A |
G |
8: 64,380,831 (GRCm39) |
V667A |
possibly damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,763 (GRCm39) |
C118* |
probably null |
Het |
Slain2 |
C |
T |
5: 73,133,347 (GRCm39) |
P563S |
probably damaging |
Het |
Slco1b2 |
A |
T |
6: 141,602,547 (GRCm39) |
I167F |
probably damaging |
Het |
Speg |
T |
C |
1: 75,399,621 (GRCm39) |
L2356P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,118,164 (GRCm39) |
V305A |
probably benign |
Het |
Sspo |
G |
A |
6: 48,434,658 (GRCm39) |
R1050H |
probably benign |
Het |
Tmem106b |
A |
G |
6: 13,081,540 (GRCm39) |
N149S |
probably benign |
Het |
Tmem200a |
T |
C |
10: 25,868,812 (GRCm39) |
T486A |
probably damaging |
Het |
Tmem212 |
T |
A |
3: 27,939,250 (GRCm39) |
T79S |
possibly damaging |
Het |
Ttll11 |
A |
G |
2: 35,779,337 (GRCm39) |
V471A |
probably damaging |
Het |
Vill |
A |
G |
9: 118,899,769 (GRCm39) |
N318D |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,899,032 (GRCm39) |
D458G |
possibly damaging |
Het |
Zfp472 |
T |
A |
17: 33,196,952 (GRCm39) |
C342* |
probably null |
Het |
Zfp963 |
A |
T |
8: 70,196,837 (GRCm39) |
|
probably benign |
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 |
|
IGL01532:Nes
|
APN |
3 |
87,885,654 (GRCm39) |
missense |
possibly damaging |
0.54 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGAGACCCAGGGTTCATTGAGGC -3'
(R):5'- ACTCTCCCTTTCAAGGGGTGTCAG -3'
Sequencing Primer
(F):5'- CTCCAGGAAGTCTCTTGAAGATG -3'
(R):5'- AGAGGTTCTATTGTCTCACTAGTCAC -3'
|
Posted On |
2014-04-24 |