Incidental Mutation 'R0271:Nes'
| ID |
35287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nes
|
| Ensembl Gene |
ENSMUSG00000004891 |
| Gene Name |
nestin |
| Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
| MMRRC Submission |
038497-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
R0271 (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 87885949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 1359
(E1359K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090973]
[ENSMUST00000160694]
|
| AlphaFold |
Q6P5H2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090973
AA Change: E1403K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: E1403K
| 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 |
possibly damaging
Transcript: ENSMUST00000160694
AA Change: E1359K
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: E1359K
| 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 |
0.0917 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.2%
- 20x: 90.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
A |
G |
11: 70,507,474 (GRCm39) |
Q173R |
possibly damaging |
Het |
| Ampd2 |
C |
T |
3: 107,994,032 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,402,658 (GRCm39) |
S1467G |
possibly damaging |
Het |
| Arhgap31 |
T |
G |
16: 38,422,872 (GRCm39) |
S1065R |
possibly damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,977,918 (GRCm39) |
M542I |
probably benign |
Het |
| C7 |
T |
C |
15: 5,044,862 (GRCm39) |
D392G |
possibly damaging |
Het |
| Ccdc138 |
G |
A |
10: 58,411,645 (GRCm39) |
C671Y |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,838,347 (GRCm39) |
S498P |
possibly damaging |
Het |
| Cpb2 |
T |
A |
14: 75,495,149 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
C |
2: 77,751,202 (GRCm39) |
N389K |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,025 (GRCm39) |
L550Q |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,665,811 (GRCm39) |
R950G |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,798,949 (GRCm39) |
V437A |
possibly damaging |
Het |
| Fanca |
T |
C |
8: 123,999,180 (GRCm39) |
|
probably benign |
Het |
| Fgd2 |
C |
G |
17: 29,585,982 (GRCm39) |
L189V |
possibly damaging |
Het |
| Foxred2 |
A |
C |
15: 77,827,590 (GRCm39) |
S590A |
possibly damaging |
Het |
| Gm1110 |
A |
G |
9: 26,831,962 (GRCm39) |
F63S |
probably damaging |
Het |
| Gm14496 |
A |
T |
2: 181,637,747 (GRCm39) |
M274L |
probably benign |
Het |
| Gm7008 |
T |
A |
12: 40,273,559 (GRCm39) |
|
probably benign |
Het |
| Gm9922 |
T |
A |
14: 101,966,989 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
A |
T |
1: 54,467,971 (GRCm39) |
M222K |
possibly damaging |
Het |
| Hspa1b |
A |
G |
17: 35,177,808 (GRCm39) |
V59A |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,294,161 (GRCm39) |
|
probably benign |
Het |
| Khdc4 |
T |
C |
3: 88,593,636 (GRCm39) |
|
probably benign |
Het |
| Lpcat4 |
T |
A |
2: 112,073,590 (GRCm39) |
|
probably null |
Het |
| Mipol1 |
T |
C |
12: 57,507,740 (GRCm39) |
|
probably benign |
Het |
| Mrpl37 |
C |
A |
4: 106,923,658 (GRCm39) |
R112L |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,957,551 (GRCm39) |
N1471D |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,391,221 (GRCm39) |
V251E |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,052,591 (GRCm39) |
I946V |
possibly damaging |
Het |
| Obscn |
T |
G |
11: 58,947,568 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
A |
T |
19: 13,682,499 (GRCm39) |
T103S |
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,502 (GRCm39) |
Y85F |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,628,837 (GRCm39) |
I146K |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,633 (GRCm39) |
M255K |
possibly damaging |
Het |
| Pck2 |
T |
C |
14: 55,782,041 (GRCm39) |
|
probably null |
Het |
| Pcsk9 |
A |
G |
4: 106,306,246 (GRCm39) |
|
probably benign |
Het |
| Phyhd1 |
A |
T |
2: 30,159,834 (GRCm39) |
Q56L |
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,673,780 (GRCm39) |
G1001S |
probably null |
Het |
| Prss52 |
T |
C |
14: 64,351,127 (GRCm39) |
V304A |
probably benign |
Het |
| Prss55 |
C |
T |
14: 64,313,056 (GRCm39) |
G276D |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,496,477 (GRCm39) |
Y252N |
probably damaging |
Het |
| Rad1 |
T |
C |
15: 10,490,543 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
A |
T |
16: 94,136,616 (GRCm39) |
E92D |
possibly damaging |
Het |
| Rpp30 |
T |
A |
19: 36,081,803 (GRCm39) |
D255E |
probably benign |
Het |
| Rsad1 |
T |
C |
11: 94,439,290 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,153,885 (GRCm39) |
M358T |
probably damaging |
Het |
| Slc35a1 |
T |
A |
4: 34,664,125 (GRCm39) |
E331V |
probably benign |
Het |
| Slc38a7 |
A |
G |
8: 96,572,506 (GRCm39) |
F179L |
probably damaging |
Het |
| Stmn4 |
C |
T |
14: 66,593,732 (GRCm39) |
Q42* |
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
G |
A |
10: 7,794,922 (GRCm39) |
A520V |
probably benign |
Het |
| Tcp10a |
A |
G |
17: 7,598,555 (GRCm39) |
I162M |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,244,986 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
A |
G |
4: 155,011,054 (GRCm39) |
|
probably null |
Het |
| Tpx2 |
A |
G |
2: 152,709,287 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
A |
17: 20,454,965 (GRCm39) |
N57I |
probably damaging |
Het |
| Wars1 |
C |
T |
12: 108,841,119 (GRCm39) |
V220I |
probably benign |
Het |
| Washc1 |
T |
A |
17: 66,423,714 (GRCm39) |
D212E |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,933,820 (GRCm39) |
D139G |
probably benign |
Het |
| Zfp235 |
A |
T |
7: 23,836,556 (GRCm39) |
H34L |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,952,391 (GRCm39) |
V230I |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCAGGTGAACAAGACTCCGTAG -3'
(R):5'- CTGTCAAGATCGGGATGGGTGAAC -3'
Sequencing Primer
(F):5'- ACTCCGTAGAGGTGACCCTTG -3'
(R):5'- CTTGGGACCAGGGACTGTTAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation