Incidental Mutation 'R5420:Nes'
ID |
427972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nes
|
Ensembl Gene |
ENSMUSG00000004891 |
Gene Name |
nestin |
Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
MMRRC Submission |
042988-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.547)
|
Stock # |
R5420 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
87878400-87887758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 87884309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 812
(N812I)
|
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: N856I
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000088493 Gene: ENSMUSG00000004891 AA Change: N856I
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 damaging
Transcript: ENSMUST00000160694
AA Change: N812I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125571 Gene: ENSMUSG00000004891 AA Change: N812I
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 |
0.0973 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
97% (66/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
TGCGCAGC |
T |
19: 4,915,372 (GRCm39) |
|
probably null |
Het |
Adamts1 |
A |
T |
16: 85,596,497 (GRCm39) |
C117* |
probably null |
Het |
Adgrg6 |
A |
T |
10: 14,302,730 (GRCm39) |
Y894* |
probably null |
Het |
Alas1 |
G |
T |
9: 106,111,358 (GRCm39) |
L603I |
probably benign |
Het |
Arhgap21 |
G |
T |
2: 20,885,897 (GRCm39) |
R427S |
probably damaging |
Het |
Arhgef25 |
A |
T |
10: 127,023,143 (GRCm39) |
V88D |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,202,551 (GRCm39) |
Q691R |
possibly damaging |
Het |
Bpifa6 |
T |
A |
2: 153,831,250 (GRCm39) |
I272N |
probably damaging |
Het |
Cacybp |
T |
C |
1: 160,035,914 (GRCm39) |
|
probably benign |
Het |
Capn3 |
T |
C |
2: 120,325,777 (GRCm39) |
|
probably benign |
Het |
Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
Cideb |
A |
C |
14: 55,995,748 (GRCm39) |
M1R |
probably null |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,925,322 (GRCm39) |
R760H |
probably damaging |
Het |
Cyp2c23 |
A |
C |
19: 44,004,103 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
T |
G |
5: 137,897,243 (GRCm39) |
D357A |
probably damaging |
Het |
Dip2b |
C |
T |
15: 100,103,054 (GRCm39) |
|
probably benign |
Het |
Ecm2 |
A |
T |
13: 49,681,210 (GRCm39) |
R448S |
possibly damaging |
Het |
Edil3 |
T |
C |
13: 89,279,891 (GRCm39) |
Y190H |
probably damaging |
Het |
Eps8l1 |
T |
G |
7: 4,473,160 (GRCm39) |
|
probably null |
Het |
Eps8l3 |
A |
T |
3: 107,791,301 (GRCm39) |
K280* |
probably null |
Het |
Fam184a |
A |
G |
10: 53,509,753 (GRCm39) |
F1137L |
probably damaging |
Het |
Fmn2 |
A |
T |
1: 174,526,344 (GRCm39) |
R1388* |
probably null |
Het |
Glt8d2 |
T |
C |
10: 82,488,516 (GRCm39) |
K318R |
probably benign |
Het |
Herc2 |
A |
T |
7: 55,853,578 (GRCm39) |
K3690I |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,308,599 (GRCm39) |
I466F |
possibly damaging |
Het |
Jade2 |
T |
C |
11: 51,709,434 (GRCm39) |
K525R |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,759,633 (GRCm39) |
F772I |
probably damaging |
Het |
Lipi |
A |
G |
16: 75,352,757 (GRCm39) |
V360A |
possibly damaging |
Het |
Mbl1 |
C |
T |
14: 40,879,153 (GRCm39) |
S108L |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Mrpl23 |
A |
G |
7: 142,089,874 (GRCm39) |
T25A |
probably damaging |
Het |
Mto1 |
T |
A |
9: 78,360,109 (GRCm39) |
M199K |
probably benign |
Het |
Nfkbie |
T |
A |
17: 45,871,132 (GRCm39) |
D261E |
probably benign |
Het |
Or7e173 |
T |
C |
9: 19,938,355 (GRCm39) |
Y293C |
probably damaging |
Het |
Pakap |
G |
A |
4: 57,856,062 (GRCm39) |
V505I |
probably benign |
Het |
Pakap |
T |
A |
4: 57,856,434 (GRCm39) |
Y588N |
probably damaging |
Het |
Papola |
A |
G |
12: 105,772,754 (GRCm39) |
I114V |
possibly damaging |
Het |
Pappa |
T |
G |
4: 65,254,017 (GRCm39) |
|
probably null |
Het |
Pcdh7 |
T |
A |
5: 57,877,529 (GRCm39) |
D361E |
probably damaging |
Het |
Pick1 |
A |
G |
15: 79,133,040 (GRCm39) |
T367A |
probably benign |
Het |
Plbd2 |
A |
G |
5: 120,632,547 (GRCm39) |
Y152H |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,671,562 (GRCm39) |
E424D |
possibly damaging |
Het |
Rab7b |
C |
T |
1: 131,626,164 (GRCm39) |
T64I |
probably damaging |
Het |
Rarb |
T |
A |
14: 16,434,249 (GRCm38) |
I310F |
possibly damaging |
Het |
Rdh16f2 |
C |
T |
10: 127,712,943 (GRCm39) |
P314S |
possibly damaging |
Het |
Rpain |
A |
T |
11: 70,868,516 (GRCm39) |
|
probably null |
Het |
Rufy3 |
T |
C |
5: 88,788,518 (GRCm39) |
*488Q |
probably null |
Het |
Sash1 |
G |
A |
10: 8,621,950 (GRCm39) |
T398I |
probably damaging |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scrn1 |
T |
A |
6: 54,489,048 (GRCm39) |
I358F |
probably benign |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Thbs1 |
G |
T |
2: 117,943,636 (GRCm39) |
D85Y |
possibly damaging |
Het |
Thoc2l |
T |
A |
5: 104,666,225 (GRCm39) |
I249N |
probably damaging |
Het |
Trp53 |
T |
C |
11: 69,479,146 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Vmn1r223 |
A |
G |
13: 23,433,675 (GRCm39) |
R90G |
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,144 (GRCm39) |
Y1090N |
probably damaging |
Het |
Zfp677 |
T |
C |
17: 21,618,175 (GRCm39) |
C411R |
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 |
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'- CCAGCAGGCATTTAGACTTCTGG -3'
(R):5'- AGTCTTGTCTTCTAGCAGGCTC -3'
Sequencing Primer
(F):5'- CAGGCATTTAGACTTCTGGAGAAAG -3'
(R):5'- CTAGCAGGCTCTTAATCATGTGGTC -3'
|
Posted On |
2016-09-01 |