Incidental Mutation 'R9137:Nes'
| ID |
694072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nes
|
| Ensembl Gene |
ENSMUSG00000004891 |
| Gene Name |
nestin |
| Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
| MMRRC Submission |
068932-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
R9137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
87878400-87887758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87878651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 48
(G48W)
|
| 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: G48W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: G48W
| 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: G48W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: G48W
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,685,312 (GRCm39) |
K299R |
probably benign |
Het |
| Abca12 |
T |
G |
1: 71,298,525 (GRCm39) |
I2366L |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,688,133 (GRCm39) |
V1749A |
probably damaging |
Het |
| Ano9 |
C |
T |
7: 140,684,028 (GRCm39) |
V546M |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,986,481 (GRCm39) |
S523C |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 135,996,744 (GRCm39) |
D115V |
possibly damaging |
Het |
| Ccdc18 |
T |
G |
5: 108,296,856 (GRCm39) |
C220G |
probably damaging |
Het |
| Cfap61 |
A |
C |
2: 146,042,685 (GRCm39) |
K1153Q |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,601,203 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,172 (GRCm39) |
K144R |
unknown |
Het |
| Cr2 |
A |
G |
1: 194,850,640 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
C |
5: 145,406,413 (GRCm39) |
V13G |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,109 (GRCm39) |
N72D |
unknown |
Het |
| Enah |
A |
G |
1: 181,739,160 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,246,511 (GRCm39) |
|
probably benign |
Het |
| Gabrr2 |
T |
A |
4: 33,095,571 (GRCm39) |
S487T |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,315,894 (GRCm39) |
T275M |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,496,238 (GRCm39) |
K3877E |
possibly damaging |
Het |
| Hhla1 |
G |
T |
15: 65,795,761 (GRCm39) |
Q482K |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,004,712 (GRCm39) |
T437A |
probably benign |
Het |
| Iars1 |
C |
T |
13: 49,855,350 (GRCm39) |
T259M |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,540,291 (GRCm39) |
E264G |
probably benign |
Het |
| Katnb1 |
G |
A |
8: 95,824,320 (GRCm39) |
M501I |
possibly damaging |
Het |
| Kcna10 |
G |
A |
3: 107,102,497 (GRCm39) |
G376E |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,834,713 (GRCm39) |
F397I |
probably damaging |
Het |
| Klf14 |
A |
T |
6: 30,934,855 (GRCm39) |
C260S |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,695,361 (GRCm39) |
S533C |
probably damaging |
Het |
| Marveld1 |
A |
G |
19: 42,136,440 (GRCm39) |
D118G |
probably benign |
Het |
| Msln |
C |
T |
17: 25,969,084 (GRCm39) |
A434T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,502 (GRCm39) |
|
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,635 (GRCm39) |
C141S |
probably benign |
Het |
| Osmr |
T |
A |
15: 6,856,709 (GRCm39) |
E479D |
probably benign |
Het |
| Otop3 |
A |
G |
11: 115,235,868 (GRCm39) |
H500R |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,310,723 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,021,794 (GRCm39) |
I369F |
possibly damaging |
Het |
| Rarres1 |
T |
A |
3: 67,422,801 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,214,736 (GRCm39) |
V1287A |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,072,647 (GRCm39) |
C498* |
probably null |
Het |
| Smtn |
T |
G |
11: 3,472,838 (GRCm39) |
K278T |
possibly damaging |
Het |
| Sp140 |
T |
C |
1: 85,570,297 (GRCm39) |
S405P |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,715 (GRCm39) |
I155N |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,433 (GRCm39) |
V77A |
probably benign |
Het |
| St8sia2 |
T |
G |
7: 73,610,654 (GRCm39) |
I210L |
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,572 (GRCm39) |
I418T |
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,695,990 (GRCm39) |
F88L |
probably damaging |
Het |
| Trim66 |
C |
T |
7: 109,074,330 (GRCm39) |
V644M |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,612,486 (GRCm39) |
I1253T |
probably benign |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,409 (GRCm39) |
N736D |
probably damaging |
Het |
| Zfat |
T |
A |
15: 68,051,794 (GRCm39) |
T667S |
probably benign |
Het |
| Zfp874a |
T |
C |
13: 67,590,841 (GRCm39) |
E281G |
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 |
|
|
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 |
|
|
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 |
|
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'- TTAAAAGCTCCAAGGGCCACTC -3'
(R):5'- TGCACCTCTAAGCGACTCTC -3'
Sequencing Primer
(F):5'- AGTGCTCCACGTCCGCTTG -3'
(R):5'- AGCTCTCCATGTGAGCCAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation