Incidental Mutation 'R0625:Nes'
| ID |
57402 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nes
|
| Ensembl Gene |
ENSMUSG00000004891 |
| Gene Name |
nestin |
| Synonyms |
Marc2, RC2, ESTM46, Ifaprc2 |
| MMRRC Submission |
038814-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.547)
|
| Stock # |
R0625 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87878400-87887758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87884479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 913
(T913A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090973]
[ENSMUST00000160694]
|
| AlphaFold |
Q6P5H2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090973
AA Change: T913A
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088493
Gene: ENSMUSG00000004891
AA Change: T913A
| 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 |
possibly damaging
Transcript: ENSMUST00000160694
AA Change: T869A
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125571
Gene: ENSMUSG00000004891
AA Change: T869A
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
C |
9: 53,319,365 (GRCm39) |
S2P |
probably benign |
Het |
| Abca16 |
A |
C |
7: 120,035,116 (GRCm39) |
T301P |
probably damaging |
Het |
| Acer2 |
A |
G |
4: 86,805,399 (GRCm39) |
D121G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,248,995 (GRCm39) |
|
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,672,056 (GRCm39) |
I249V |
probably benign |
Het |
| Arhgap22 |
A |
G |
14: 33,088,671 (GRCm39) |
E219G |
probably benign |
Het |
| C2cd4b |
T |
A |
9: 67,667,033 (GRCm39) |
S10T |
probably benign |
Het |
| Cnot6 |
A |
T |
11: 49,573,998 (GRCm39) |
I224N |
probably damaging |
Het |
| Ctrc |
T |
C |
4: 141,568,829 (GRCm39) |
T125A |
probably damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,991,642 (GRCm39) |
S14R |
unknown |
Het |
| Cyp4f37 |
T |
G |
17: 32,853,652 (GRCm39) |
F445L |
probably damaging |
Het |
| Dcbld1 |
T |
G |
10: 52,188,946 (GRCm39) |
I186S |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,289,986 (GRCm39) |
T2510A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,671,110 (GRCm39) |
I591T |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,078,612 (GRCm39) |
I204N |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,088,969 (GRCm39) |
|
probably null |
Het |
| Erich5 |
A |
G |
15: 34,471,515 (GRCm39) |
E248G |
probably damaging |
Het |
| Fhip1a |
A |
G |
3: 85,637,807 (GRCm39) |
V164A |
possibly damaging |
Het |
| Foxm1 |
A |
G |
6: 128,350,834 (GRCm39) |
S712G |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,055 (GRCm39) |
T959A |
probably benign |
Het |
| Gfra4 |
C |
T |
2: 130,882,176 (GRCm39) |
V277I |
probably null |
Het |
| Hacd4 |
T |
C |
4: 88,353,247 (GRCm39) |
I82V |
probably benign |
Het |
| Itih2 |
C |
T |
2: 10,128,225 (GRCm39) |
V159I |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
| Marchf11 |
A |
G |
15: 26,311,129 (GRCm39) |
I202V |
probably damaging |
Het |
| Marchf3 |
A |
G |
18: 56,944,902 (GRCm39) |
|
probably null |
Het |
| Med12l |
G |
A |
3: 59,154,858 (GRCm39) |
E1135K |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mlx |
T |
C |
11: 100,978,608 (GRCm39) |
L78P |
possibly damaging |
Het |
| Muc5b |
T |
C |
7: 141,400,164 (GRCm39) |
C473R |
unknown |
Het |
| N4bp2l1 |
T |
A |
5: 150,500,210 (GRCm39) |
R66* |
probably null |
Het |
| Oas1a |
T |
C |
5: 121,037,322 (GRCm39) |
E235G |
probably damaging |
Het |
| Or5p56 |
T |
C |
7: 107,590,396 (GRCm39) |
S275P |
probably damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,504 (GRCm39) |
S154P |
possibly damaging |
Het |
| Or8i2 |
T |
A |
2: 86,851,964 (GRCm39) |
H308L |
probably benign |
Het |
| Parn |
C |
T |
16: 13,458,158 (GRCm39) |
V286I |
probably benign |
Het |
| Paxip1 |
G |
A |
5: 27,970,940 (GRCm39) |
Q470* |
probably null |
Het |
| Phc2 |
C |
G |
4: 128,617,503 (GRCm39) |
H510D |
possibly damaging |
Het |
| Pla2g4f |
T |
A |
2: 120,135,522 (GRCm39) |
D384V |
probably damaging |
Het |
| Plpbp |
A |
T |
8: 27,535,159 (GRCm39) |
N68I |
probably damaging |
Het |
| Podxl2 |
G |
A |
6: 88,826,937 (GRCm39) |
A123V |
possibly damaging |
Het |
| Pole |
A |
T |
5: 110,473,416 (GRCm39) |
T1737S |
possibly damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,462,476 (GRCm39) |
E396G |
probably damaging |
Het |
| Pramel7 |
T |
A |
2: 87,321,352 (GRCm39) |
I228F |
probably benign |
Het |
| Prl7d1 |
A |
T |
13: 27,894,123 (GRCm39) |
C149S |
probably benign |
Het |
| Qtrt1 |
G |
T |
9: 21,329,584 (GRCm39) |
M217I |
probably benign |
Het |
| Sec24a |
T |
A |
11: 51,620,281 (GRCm39) |
D456V |
probably damaging |
Het |
| Shox2 |
T |
G |
3: 66,888,877 (GRCm39) |
|
probably null |
Het |
| Skint2 |
T |
A |
4: 112,481,283 (GRCm39) |
S49T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,447,315 (GRCm39) |
|
probably null |
Het |
| Sorcs2 |
T |
A |
5: 36,181,916 (GRCm39) |
D1068V |
possibly damaging |
Het |
| Tmem114 |
T |
C |
16: 8,229,966 (GRCm39) |
|
probably null |
Het |
| Ttc7b |
T |
A |
12: 100,321,305 (GRCm39) |
M24L |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,385,864 (GRCm39) |
|
probably null |
Het |
| Usp7 |
C |
T |
16: 8,522,846 (GRCm39) |
D102N |
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 |
|
|
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 |
|
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'- AGGAAAGTCAGGAGTCCCTGAAGTC -3'
(R):5'- GAGGGTTCACTGTCATCTGCTCATC -3'
Sequencing Primer
(F):5'- GAGTCCCTGAAGTCTCCAGAAG -3'
(R):5'- TAGAGACCTCAGGGACTCTAGATTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation