Incidental Mutation 'R9177:Nes'
| ID |
696731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nes
|
| Ensembl Gene |
ENSMUSG00000004891 |
| Gene Name |
nestin |
| Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
| MMRRC Submission |
068949-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
R9177 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87878400-87887758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87887012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 1757
(G1757E)
|
| 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: G1757E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: G1757E
| 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 benign
Transcript: ENSMUST00000160694
AA Change: G1713E
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: G1713E
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,775,677 (GRCm39) |
V1622D |
probably damaging |
Het |
| Acadsb |
C |
T |
7: 131,033,763 (GRCm39) |
T260I |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,955,392 (GRCm39) |
V161E |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,181,190 (GRCm39) |
T1367A |
probably damaging |
Het |
| Atg2a |
A |
C |
19: 6,291,905 (GRCm39) |
H27P |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,336,858 (GRCm39) |
|
probably null |
Het |
| C1s1 |
T |
G |
6: 124,508,362 (GRCm39) |
K542N |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,303,901 (GRCm39) |
S351P |
probably benign |
Het |
| Carf |
C |
A |
1: 60,148,558 (GRCm39) |
Q85K |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,698,683 (GRCm39) |
N43S |
probably damaging |
Het |
| Cd40 |
T |
C |
2: 164,905,465 (GRCm39) |
C161R |
probably damaging |
Het |
| Cdh19 |
A |
G |
1: 110,877,111 (GRCm39) |
F76S |
probably damaging |
Het |
| Cdkl1 |
T |
C |
12: 69,794,100 (GRCm39) |
N346D |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,381,230 (GRCm39) |
D540G |
probably benign |
Het |
| Cep164 |
T |
A |
9: 45,691,060 (GRCm39) |
E379V |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,377,256 (GRCm39) |
N681S |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
G |
9: 105,808,152 (GRCm39) |
K965N |
unknown |
Het |
| Dctn4 |
T |
A |
18: 60,659,304 (GRCm39) |
M1K |
probably null |
Het |
| Dhx30 |
T |
C |
9: 109,915,750 (GRCm39) |
D741G |
probably damaging |
Het |
| Dhx37 |
A |
G |
5: 125,507,958 (GRCm39) |
V104A |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,571,255 (GRCm39) |
K2788R |
possibly damaging |
Het |
| Egfr |
T |
A |
11: 16,855,410 (GRCm39) |
D898E |
probably damaging |
Het |
| Eif2ak4 |
G |
C |
2: 118,271,701 (GRCm39) |
|
probably null |
Het |
| Eif6 |
A |
G |
2: 155,665,852 (GRCm39) |
L101P |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,896,419 (GRCm39) |
V566E |
probably damaging |
Het |
| Far2 |
C |
T |
6: 148,060,418 (GRCm39) |
T257I |
probably benign |
Het |
| Fuca2 |
G |
A |
10: 13,390,563 (GRCm39) |
W453* |
probably null |
Het |
| Galntl6 |
A |
T |
8: 58,310,590 (GRCm39) |
Y370* |
probably null |
Het |
| Gcn1 |
T |
C |
5: 115,719,867 (GRCm39) |
V374A |
probably benign |
Het |
| Hjv |
T |
C |
3: 96,435,881 (GRCm39) |
F380L |
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,591,361 (GRCm39) |
D94G |
probably damaging |
Het |
| Ifi202b |
A |
T |
1: 173,804,949 (GRCm39) |
M1K |
probably null |
Het |
| Lama4 |
A |
G |
10: 38,950,688 (GRCm39) |
Y997C |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,602,798 (GRCm39) |
C195* |
probably null |
Het |
| Lrrc37 |
T |
A |
11: 103,508,263 (GRCm39) |
H1235L |
unknown |
Het |
| Lrrc73 |
T |
C |
17: 46,565,535 (GRCm39) |
S89P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,582 (GRCm39) |
E2393G |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,517,481 (GRCm39) |
T118S |
possibly damaging |
Het |
| Msantd5f3 |
T |
C |
4: 73,575,373 (GRCm39) |
S351P |
probably damaging |
Het |
| Mtf2 |
A |
G |
5: 108,234,949 (GRCm39) |
K124R |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,399,075 (GRCm39) |
Y339H |
unknown |
Het |
| Nfatc4 |
A |
T |
14: 56,064,685 (GRCm39) |
I391F |
probably damaging |
Het |
| Nup93 |
A |
T |
8: 94,954,371 (GRCm39) |
I23F |
probably benign |
Het |
| Or4a27 |
A |
C |
2: 88,559,174 (GRCm39) |
Y256* |
probably null |
Het |
| Or5h17 |
T |
G |
16: 58,820,083 (GRCm39) |
F12V |
probably damaging |
Het |
| Or6y1 |
A |
C |
1: 174,276,923 (GRCm39) |
T245P |
probably damaging |
Het |
| Or7g16 |
G |
T |
9: 18,726,742 (GRCm39) |
Q283K |
probably damaging |
Het |
| Or9i14 |
A |
T |
19: 13,792,388 (GRCm39) |
C189S |
probably damaging |
Het |
| Pak5 |
A |
C |
2: 135,943,126 (GRCm39) |
M338R |
probably benign |
Het |
| Papola |
A |
G |
12: 105,766,032 (GRCm39) |
E44G |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,479,455 (GRCm39) |
E522V |
probably benign |
Het |
| Peli2 |
A |
G |
14: 48,518,927 (GRCm39) |
E225G |
probably benign |
Het |
| Pla2g1b |
T |
G |
5: 115,612,595 (GRCm39) |
I117S |
probably damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,943,469 (GRCm39) |
Q1246K |
probably benign |
Het |
| Pole |
A |
G |
5: 110,480,288 (GRCm39) |
E1953G |
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,431,445 (GRCm39) |
I395V |
probably benign |
Het |
| Shisa7 |
T |
G |
7: 4,837,333 (GRCm39) |
D244A |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,952,946 (GRCm39) |
T538A |
probably benign |
Het |
| Syk |
T |
A |
13: 52,766,480 (GRCm39) |
N188K |
probably benign |
Het |
| Tcf20 |
A |
G |
15: 82,740,705 (GRCm39) |
S249P |
probably benign |
Het |
| Tmem25 |
T |
C |
9: 44,709,529 (GRCm39) |
T91A |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,221,579 (GRCm39) |
V2772A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,596,447 (GRCm39) |
Y20155* |
probably null |
Het |
| Uchl4 |
C |
T |
9: 64,142,986 (GRCm39) |
H156Y |
probably benign |
Het |
| Ulbp1 |
A |
T |
10: 7,396,392 (GRCm39) |
L295Q |
unknown |
Het |
| Vwf |
G |
A |
6: 125,581,254 (GRCm39) |
A631T |
|
Het |
| Zfp810 |
C |
T |
9: 22,189,936 (GRCm39) |
C324Y |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,761,908 (GRCm39) |
L227P |
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 |
|
R9137:Nes
|
UTSW |
3 |
87,878,651 (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'- GTGTCAAGGTCCAGGATGTCAC -3'
(R):5'- CCCTGTTCCTGTAAAGGGATG -3'
Sequencing Primer
(F):5'- TCCAGGATGTCACCCAGAGAG -3'
(R):5'- AAAGGGATGCCTTGATCCTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation