Incidental Mutation 'R5207:Nes'
| ID |
402068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nes
|
| Ensembl Gene |
ENSMUSG00000004891 |
| Gene Name |
nestin |
| Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
| MMRRC Submission |
042782-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.503)
|
| Stock # |
R5207 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87878400-87887758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87885935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 1398
(G1398E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090973]
[ENSMUST00000160694]
|
| AlphaFold |
Q6P5H2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090973
AA Change: G1398E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: G1398E
| 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 |
probably damaging
Transcript: ENSMUST00000160694
AA Change: G1354E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: G1354E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,621,159 (GRCm39) |
|
probably benign |
Het |
| Alg6 |
C |
T |
4: 99,607,431 (GRCm39) |
L15F |
possibly damaging |
Het |
| Allc |
T |
A |
12: 28,605,325 (GRCm39) |
M325L |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,126,517 (GRCm39) |
N361S |
possibly damaging |
Het |
| Bmp8b |
A |
G |
4: 123,009,714 (GRCm39) |
|
probably benign |
Het |
| Borcs6 |
A |
T |
11: 68,951,674 (GRCm39) |
T351S |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,589,060 (GRCm39) |
R808G |
unknown |
Het |
| Celsr3 |
A |
T |
9: 108,709,958 (GRCm39) |
T1480S |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,318 (GRCm39) |
P76S |
probably damaging |
Het |
| Chmp7 |
T |
C |
14: 69,969,755 (GRCm39) |
S62G |
probably benign |
Het |
| Cldn23 |
A |
T |
8: 36,293,182 (GRCm39) |
V102E |
probably damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,821 (GRCm39) |
Q69* |
probably null |
Het |
| Ctrc |
A |
C |
4: 141,567,695 (GRCm39) |
I136S |
probably damaging |
Het |
| Cysltr2 |
A |
C |
14: 73,266,951 (GRCm39) |
L253R |
probably damaging |
Het |
| Ddr2 |
G |
A |
1: 169,812,530 (GRCm39) |
T654M |
probably damaging |
Het |
| Derl2 |
G |
T |
11: 70,910,073 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
A |
T |
6: 145,124,794 (GRCm39) |
D510E |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,013,733 (GRCm39) |
S1330G |
probably benign |
Het |
| Emp3 |
T |
C |
7: 45,569,373 (GRCm39) |
N56S |
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,583 (GRCm39) |
K195* |
probably null |
Het |
| Ficd |
T |
A |
5: 113,875,072 (GRCm39) |
V47E |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,990 (GRCm39) |
S121P |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,575 (GRCm39) |
T123A |
probably benign |
Het |
| Gdf7 |
C |
T |
12: 8,348,371 (GRCm39) |
A309T |
unknown |
Het |
| Gm14486 |
G |
T |
2: 30,548,572 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
A |
9: 66,307,151 (GRCm39) |
C990* |
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,897,365 (GRCm39) |
V1530A |
probably damaging |
Het |
| Itpka |
G |
A |
2: 119,580,974 (GRCm39) |
R374H |
probably damaging |
Het |
| Lacc1 |
T |
A |
14: 77,271,594 (GRCm39) |
|
probably null |
Het |
| Med23 |
A |
T |
10: 24,771,734 (GRCm39) |
K225* |
probably null |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,909 (GRCm39) |
T6S |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,578,583 (GRCm39) |
N32Y |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,763 (GRCm39) |
R207G |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,969,823 (GRCm39) |
|
probably null |
Het |
| Nagpa |
A |
G |
16: 5,017,478 (GRCm39) |
|
probably null |
Het |
| Nek3 |
A |
T |
8: 22,622,243 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
G |
T |
11: 79,345,015 (GRCm39) |
V1323L |
probably damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,801 (GRCm39) |
I47F |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,407,594 (GRCm39) |
F250I |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,773 (GRCm39) |
F226L |
probably benign |
Het |
| Paqr8 |
G |
T |
1: 21,005,482 (GRCm39) |
C212F |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,515 (GRCm39) |
Y489H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,629,966 (GRCm39) |
K683E |
probably damaging |
Het |
| Pjvk |
A |
C |
2: 76,480,734 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
A |
T |
8: 110,359,823 (GRCm39) |
S893C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,471,207 (GRCm39) |
T993A |
probably benign |
Het |
| Ppp2r2b |
A |
T |
18: 42,821,417 (GRCm39) |
I247N |
probably damaging |
Het |
| Rac2 |
T |
C |
15: 78,449,654 (GRCm39) |
N92S |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 21,860,130 (GRCm39) |
H501L |
possibly damaging |
Het |
| Snx29 |
A |
T |
16: 11,556,227 (GRCm39) |
I753F |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,740,386 (GRCm39) |
H355L |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,666 (GRCm39) |
D668G |
unknown |
Het |
| Tlr12 |
G |
A |
4: 128,510,502 (GRCm39) |
Q583* |
probably null |
Het |
| Tmem119 |
T |
C |
5: 113,933,289 (GRCm39) |
I171V |
probably damaging |
Het |
| Ube2m |
C |
T |
7: 12,770,249 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,817,062 (GRCm39) |
I173N |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,350,951 (GRCm39) |
V15E |
probably damaging |
Het |
| Zfp558 |
A |
C |
9: 18,368,296 (GRCm39) |
V164G |
possibly 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 |
|
|
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 |
|
|
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 |
|
|
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'- CAGGTGAACAAGACTCCGTAG -3'
(R):5'- TGTTAGCGCTGCCTGTAGAC -3'
Sequencing Primer
(F):5'- CAAGACTCCGTAGAGGTGACC -3'
(R):5'- GCTGCCTGTAGACCCTCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation