Incidental Mutation 'R7131:Notch3'
| ID |
552705 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Notch3
|
| Ensembl Gene |
ENSMUSG00000038146 |
| Gene Name |
notch 3 |
| Synonyms |
hpbk, N3 |
| MMRRC Submission |
045216-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7131 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
32339794-32385826 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32363191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 1264
(H1264L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087723]
|
| AlphaFold |
Q61982 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087723
AA Change: H1264L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000085016
Gene: ENSMUSG00000038146
AA Change: H1264L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
EGF
|
42 |
78 |
3.73e-5 |
SMART |
|
EGF
|
82 |
119 |
1.78e-2 |
SMART |
|
EGF
|
123 |
157 |
1.13e-4 |
SMART |
|
EGF_CA
|
159 |
196 |
1.89e-15 |
SMART |
|
EGF
|
201 |
235 |
3.85e-7 |
SMART |
|
EGF_CA
|
237 |
273 |
3.97e-9 |
SMART |
|
EGF_CA
|
275 |
313 |
4.63e-10 |
SMART |
|
EGF_CA
|
315 |
351 |
1.05e-8 |
SMART |
|
EGF
|
355 |
390 |
1.28e-3 |
SMART |
|
EGF_CA
|
392 |
430 |
6.29e-12 |
SMART |
|
EGF_CA
|
432 |
468 |
1.11e-12 |
SMART |
|
EGF_CA
|
470 |
506 |
4.21e-13 |
SMART |
|
EGF_CA
|
508 |
544 |
8.43e-13 |
SMART |
|
EGF_CA
|
546 |
581 |
9.54e-12 |
SMART |
|
EGF_CA
|
583 |
619 |
1.31e-9 |
SMART |
|
EGF_CA
|
621 |
656 |
2.03e-6 |
SMART |
|
EGF_CA
|
658 |
694 |
2.28e-9 |
SMART |
|
EGF
|
699 |
731 |
7.18e-7 |
SMART |
|
EGF
|
738 |
771 |
2.5e-6 |
SMART |
|
EGF
|
775 |
809 |
8e-5 |
SMART |
|
EGF_CA
|
811 |
848 |
4.77e-12 |
SMART |
|
EGF_CA
|
850 |
886 |
3.81e-11 |
SMART |
|
EGF_CA
|
888 |
923 |
1.47e-12 |
SMART |
|
EGF_CA
|
925 |
961 |
3.4e-8 |
SMART |
|
EGF
|
966 |
999 |
5.74e-6 |
SMART |
|
EGF
|
1004 |
1035 |
7.18e-7 |
SMART |
|
EGF
|
1040 |
1083 |
1.21e-4 |
SMART |
|
EGF_CA
|
1085 |
1121 |
1.29e-8 |
SMART |
|
EGF_CA
|
1123 |
1159 |
1.45e-11 |
SMART |
|
EGF_CA
|
1161 |
1204 |
1.26e-11 |
SMART |
|
EGF
|
1209 |
1245 |
1.53e-1 |
SMART |
|
EGF
|
1250 |
1288 |
8e-5 |
SMART |
|
EGF
|
1293 |
1326 |
1.13e1 |
SMART |
|
EGF
|
1339 |
1374 |
5.36e-6 |
SMART |
|
NL
|
1381 |
1419 |
1.63e-15 |
SMART |
|
NL
|
1422 |
1460 |
1.78e-16 |
SMART |
|
NL
|
1461 |
1502 |
1.75e-15 |
SMART |
|
NOD
|
1506 |
1562 |
2.98e-24 |
SMART |
|
NODP
|
1577 |
1641 |
1.34e-26 |
SMART |
|
transmembrane domain
|
1644 |
1666 |
N/A |
INTRINSIC |
|
low complexity region
|
1774 |
1783 |
N/A |
INTRINSIC |
|
ANK
|
1789 |
1834 |
1.48e3 |
SMART |
|
ANK
|
1839 |
1868 |
1.61e-4 |
SMART |
|
ANK
|
1872 |
1902 |
1.42e0 |
SMART |
|
ANK
|
1906 |
1935 |
1.77e-1 |
SMART |
|
ANK
|
1939 |
1968 |
3.18e-3 |
SMART |
|
ANK
|
1972 |
2001 |
5.16e-3 |
SMART |
|
low complexity region
|
2028 |
2054 |
N/A |
INTRINSIC |
|
low complexity region
|
2108 |
2123 |
N/A |
INTRINSIC |
|
low complexity region
|
2169 |
2193 |
N/A |
INTRINSIC |
|
DUF3454
|
2218 |
2275 |
2.81e-20 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the third discovered human homologue of the Drosophilia melanogaster type I membrane protein notch. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [provided by RefSeq, Jul 2008]
PHENOTYPE: Some, but not all, null alleles cause defects in artery morphology and in T cell development. Progressive emaciation and kyphosis with paraphimosis occurs in an intron 31 splice donor site point mutant. In conjunction with Notch1 deficiency, abnormalities in embryonic development have been observed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
G |
4: 144,396,637 (GRCm39) |
V365A |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,893 (GRCm39) |
N1252S |
probably benign |
Het |
| Abcc3 |
A |
T |
11: 94,255,857 (GRCm39) |
F543I |
probably damaging |
Het |
| Adam15 |
T |
A |
3: 89,254,287 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Aldoc |
A |
G |
11: 78,215,282 (GRCm39) |
I19V |
possibly damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,306 (GRCm39) |
Y410* |
probably null |
Het |
| Atrip |
T |
C |
9: 108,889,488 (GRCm39) |
I711M |
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,867,698 (GRCm39) |
L149R |
probably damaging |
Het |
| Capn9 |
A |
T |
8: 125,303,017 (GRCm39) |
D45V |
probably damaging |
Het |
| Card9 |
G |
A |
2: 26,248,847 (GRCm39) |
R101C |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,891,785 (GRCm39) |
E759G |
probably damaging |
Het |
| Ccn1 |
T |
C |
3: 145,354,536 (GRCm39) |
D125G |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,806,997 (GRCm39) |
M193T |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,656,966 (GRCm39) |
K3029E |
probably benign |
Het |
| Chrna9 |
G |
A |
5: 66,134,484 (GRCm39) |
G445D |
possibly damaging |
Het |
| Cluap1 |
C |
T |
16: 3,758,639 (GRCm39) |
S367L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,819,498 (GRCm39) |
D200G |
unknown |
Het |
| Crhr2 |
T |
C |
6: 55,069,112 (GRCm39) |
N388D |
|
Het |
| Cyp2b23 |
A |
G |
7: 26,380,838 (GRCm39) |
L129P |
probably benign |
Het |
| Dctd |
A |
G |
8: 48,565,075 (GRCm39) |
S67G |
probably benign |
Het |
| Dhtkd1 |
C |
G |
2: 5,908,881 (GRCm39) |
V738L |
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,970,484 (GRCm39) |
D2173N |
probably benign |
Het |
| Dnah7c |
G |
T |
1: 46,720,932 (GRCm39) |
A2819S |
probably benign |
Het |
| Dnai7 |
A |
T |
6: 145,123,132 (GRCm39) |
L578Q |
probably null |
Het |
| Dot1l |
A |
G |
10: 80,628,175 (GRCm39) |
H1071R |
unknown |
Het |
| Dync2h1 |
T |
A |
9: 7,075,786 (GRCm39) |
D3027V |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,307,272 (GRCm39) |
Y56C |
probably damaging |
Het |
| Eif4e1b |
A |
T |
13: 54,931,913 (GRCm39) |
R29W |
probably null |
Het |
| Evc2 |
A |
G |
5: 37,567,602 (GRCm39) |
R860G |
probably damaging |
Het |
| Fbxl12 |
G |
A |
9: 20,555,679 (GRCm39) |
|
probably benign |
Het |
| Fibp |
T |
A |
19: 5,511,519 (GRCm39) |
I129N |
probably damaging |
Het |
| Folh1 |
G |
T |
7: 86,375,320 (GRCm39) |
H555Q |
probably damaging |
Het |
| Gcnt4 |
A |
T |
13: 97,083,027 (GRCm39) |
T108S |
probably damaging |
Het |
| H1f7 |
T |
A |
15: 98,154,250 (GRCm39) |
K300* |
probably null |
Het |
| Hecw2 |
A |
T |
1: 53,904,280 (GRCm39) |
V1156E |
probably damaging |
Het |
| Herc3 |
C |
G |
6: 58,864,409 (GRCm39) |
A681G |
probably damaging |
Het |
| Igkv13-84 |
T |
A |
6: 68,916,764 (GRCm39) |
C20* |
probably null |
Het |
| Iho1 |
A |
T |
9: 108,294,619 (GRCm39) |
D98E |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,753,954 (GRCm39) |
V435A |
possibly damaging |
Het |
| Ivd |
C |
A |
2: 118,700,255 (GRCm39) |
T94K |
probably damaging |
Het |
| Kank2 |
C |
T |
9: 21,705,975 (GRCm39) |
A348T |
probably benign |
Het |
| Kcnma1 |
T |
C |
14: 23,417,562 (GRCm39) |
Y889C |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
| Kmt2d |
GCTGCTGCT |
GCTGCTGCTCCTGCTGCT |
15: 98,747,497 (GRCm39) |
|
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,865,412 (GRCm39) |
D825E |
probably benign |
Het |
| Krt39 |
C |
T |
11: 99,411,697 (GRCm39) |
A130T |
probably benign |
Het |
| Krtap4-9 |
C |
T |
11: 99,676,283 (GRCm39) |
T68I |
unknown |
Het |
| Lmbr1l |
A |
T |
15: 98,804,204 (GRCm39) |
V365E |
probably benign |
Het |
| Lonp1 |
C |
T |
17: 56,924,814 (GRCm39) |
R531Q |
probably damaging |
Het |
| Mecom |
T |
A |
3: 30,035,094 (GRCm39) |
H194L |
probably damaging |
Het |
| Mlx |
C |
T |
11: 100,980,068 (GRCm39) |
H188Y |
probably damaging |
Het |
| Mrps10 |
T |
C |
17: 47,685,940 (GRCm39) |
S77P |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,962,130 (GRCm39) |
E716G |
probably null |
Het |
| Mttp |
C |
T |
3: 137,821,893 (GRCm39) |
V210I |
probably benign |
Het |
| Mug2 |
T |
C |
6: 122,052,206 (GRCm39) |
V988A |
probably damaging |
Het |
| Ndufb6 |
A |
G |
4: 40,279,336 (GRCm39) |
M1T |
probably null |
Het |
| Neurog1 |
A |
T |
13: 56,399,563 (GRCm39) |
N61K |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,784,021 (GRCm39) |
D581G |
possibly damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,149,258 (GRCm39) |
N288K |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,562 (GRCm39) |
D52V |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,780 (GRCm39) |
C139* |
probably null |
Het |
| Or3a1c |
A |
G |
11: 74,046,606 (GRCm39) |
M209V |
probably benign |
Het |
| Patl2 |
A |
T |
2: 121,952,263 (GRCm39) |
|
probably null |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,370 (GRCm39) |
T133A |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,135,035 (GRCm39) |
E471G |
probably null |
Het |
| Postn |
T |
C |
3: 54,270,056 (GRCm39) |
V45A |
probably damaging |
Het |
| Ppan |
T |
A |
9: 20,802,450 (GRCm39) |
V257E |
possibly damaging |
Het |
| Ptcra |
C |
G |
17: 47,074,522 (GRCm39) |
A7P |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,984,577 (GRCm39) |
R523H |
probably damaging |
Het |
| Pycr3 |
A |
T |
15: 75,790,544 (GRCm39) |
I105N |
possibly damaging |
Het |
| Rfx1 |
C |
A |
8: 84,821,708 (GRCm39) |
Q815K |
probably damaging |
Het |
| Rfx3 |
T |
A |
19: 27,746,028 (GRCm39) |
K668* |
probably null |
Het |
| Ryr2 |
A |
T |
13: 11,655,213 (GRCm39) |
D3661E |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,683,697 (GRCm39) |
|
probably null |
Het |
| Sec23ip |
T |
A |
7: 128,381,364 (GRCm39) |
S974T |
probably damaging |
Het |
| Semp2l2a |
A |
T |
8: 13,886,982 (GRCm39) |
W370R |
probably damaging |
Het |
| Setbp1 |
A |
G |
18: 79,130,175 (GRCm39) |
F19S |
probably benign |
Het |
| Setd1a |
AAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAG |
7: 127,395,590 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2b |
A |
G |
11: 32,372,072 (GRCm39) |
K413R |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,454,614 (GRCm39) |
V544A |
probably damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,135,274 (GRCm39) |
Y418C |
probably damaging |
Het |
| Snx19 |
T |
G |
9: 30,339,189 (GRCm39) |
I109S |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,029,220 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
A |
T |
19: 4,799,488 (GRCm39) |
Q2097L |
probably null |
Het |
| Syne1 |
T |
C |
10: 5,178,221 (GRCm39) |
K4751R |
probably damaging |
Het |
| Tigit |
C |
A |
16: 43,482,615 (GRCm39) |
G40C |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,348,247 (GRCm39) |
I264K |
probably damaging |
Het |
| Tom1 |
T |
A |
8: 75,783,877 (GRCm39) |
I287N |
possibly damaging |
Het |
| Top2a |
G |
A |
11: 98,895,008 (GRCm39) |
P864L |
possibly damaging |
Het |
| Trmt44 |
A |
T |
5: 35,728,410 (GRCm39) |
V290E |
probably damaging |
Het |
| Try4 |
T |
C |
6: 41,281,337 (GRCm39) |
I93T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,239,500 (GRCm39) |
H1147Q |
possibly damaging |
Het |
| Uspl1 |
A |
T |
5: 149,130,745 (GRCm39) |
R109S |
probably benign |
Het |
| Vav3 |
T |
A |
3: 109,571,662 (GRCm39) |
F755I |
probably damaging |
Het |
| Vezt |
A |
T |
10: 93,806,409 (GRCm39) |
Y667* |
probably null |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,140 (GRCm39) |
L258F |
possibly damaging |
Het |
| Zfp207 |
T |
C |
11: 80,286,354 (GRCm39) |
M489T |
unknown |
Het |
| Zfp462 |
A |
G |
4: 55,009,380 (GRCm39) |
T449A |
probably benign |
Het |
| Zfp956 |
C |
A |
6: 47,932,781 (GRCm39) |
Q19K |
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,709,443 (GRCm39) |
W152R |
probably damaging |
Het |
|
| Other mutations in Notch3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Notch3
|
APN |
17 |
32,377,088 (GRCm39) |
nonsense |
probably null |
|
|
IGL01065:Notch3
|
APN |
17 |
32,365,390 (GRCm39) |
nonsense |
probably null |
|
|
IGL01296:Notch3
|
APN |
17 |
32,385,731 (GRCm39) |
missense |
unknown |
|
|
IGL01322:Notch3
|
APN |
17 |
32,363,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01343:Notch3
|
APN |
17 |
32,362,410 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01358:Notch3
|
APN |
17 |
32,363,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01600:Notch3
|
APN |
17 |
32,363,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01622:Notch3
|
APN |
17 |
32,377,844 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01623:Notch3
|
APN |
17 |
32,377,844 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01971:Notch3
|
APN |
17 |
32,343,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02000:Notch3
|
APN |
17 |
32,341,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02072:Notch3
|
APN |
17 |
32,366,048 (GRCm39) |
nonsense |
probably null |
|
|
IGL02145:Notch3
|
APN |
17 |
32,373,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02256:Notch3
|
APN |
17 |
32,351,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02366:Notch3
|
APN |
17 |
32,363,179 (GRCm39) |
missense |
probably benign |
|
|
IGL02476:Notch3
|
APN |
17 |
32,377,612 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02502:Notch3
|
APN |
17 |
32,377,252 (GRCm39) |
nonsense |
probably null |
|
|
IGL02551:Notch3
|
APN |
17 |
32,373,705 (GRCm39) |
splice site |
probably benign |
|
|
divide
|
UTSW |
17 |
32,356,787 (GRCm39) |
splice site |
probably null |
|
|
impressed
|
UTSW |
17 |
32,385,652 (GRCm39) |
missense |
probably benign |
|
|
indented
|
UTSW |
17 |
32,366,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
Lopressor
|
UTSW |
17 |
32,372,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
marginal
|
UTSW |
17 |
32,383,198 (GRCm39) |
missense |
probably benign |
|
|
PIT4486001:Notch3
|
UTSW |
17 |
32,373,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Notch3
|
UTSW |
17 |
32,352,436 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0201:Notch3
|
UTSW |
17 |
32,375,122 (GRCm39) |
splice site |
probably benign |
|
|
R0630:Notch3
|
UTSW |
17 |
32,366,446 (GRCm39) |
splice site |
probably benign |
|
|
R1167:Notch3
|
UTSW |
17 |
32,341,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1432:Notch3
|
UTSW |
17 |
32,383,198 (GRCm39) |
missense |
probably benign |
|
|
R1567:Notch3
|
UTSW |
17 |
32,377,554 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1623:Notch3
|
UTSW |
17 |
32,358,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1663:Notch3
|
UTSW |
17 |
32,375,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Notch3
|
UTSW |
17 |
32,377,563 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Notch3
|
UTSW |
17 |
32,377,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Notch3
|
UTSW |
17 |
32,362,402 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1837:Notch3
|
UTSW |
17 |
32,343,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Notch3
|
UTSW |
17 |
32,362,402 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1937:Notch3
|
UTSW |
17 |
32,372,826 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1954:Notch3
|
UTSW |
17 |
32,385,652 (GRCm39) |
missense |
probably benign |
|
|
R2014:Notch3
|
UTSW |
17 |
32,376,974 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2058:Notch3
|
UTSW |
17 |
32,362,618 (GRCm39) |
missense |
probably benign |
|
|
R2068:Notch3
|
UTSW |
17 |
32,354,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2097:Notch3
|
UTSW |
17 |
32,341,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2112:Notch3
|
UTSW |
17 |
32,363,584 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2156:Notch3
|
UTSW |
17 |
32,366,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Notch3
|
UTSW |
17 |
32,366,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2324:Notch3
|
UTSW |
17 |
32,369,108 (GRCm39) |
splice site |
probably benign |
|
|
R2432:Notch3
|
UTSW |
17 |
32,372,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3117:Notch3
|
UTSW |
17 |
32,377,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3236:Notch3
|
UTSW |
17 |
32,377,435 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3409:Notch3
|
UTSW |
17 |
32,369,676 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3434:Notch3
|
UTSW |
17 |
32,377,592 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3435:Notch3
|
UTSW |
17 |
32,377,592 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3438:Notch3
|
UTSW |
17 |
32,372,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3926:Notch3
|
UTSW |
17 |
32,372,531 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4087:Notch3
|
UTSW |
17 |
32,377,087 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4115:Notch3
|
UTSW |
17 |
32,377,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4214:Notch3
|
UTSW |
17 |
32,351,181 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4234:Notch3
|
UTSW |
17 |
32,360,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4242:Notch3
|
UTSW |
17 |
32,362,719 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4658:Notch3
|
UTSW |
17 |
32,373,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Notch3
|
UTSW |
17 |
32,366,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Notch3
|
UTSW |
17 |
32,366,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4885:Notch3
|
UTSW |
17 |
32,360,351 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4924:Notch3
|
UTSW |
17 |
32,363,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Notch3
|
UTSW |
17 |
32,376,864 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5086:Notch3
|
UTSW |
17 |
32,362,308 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5343:Notch3
|
UTSW |
17 |
32,362,257 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5389:Notch3
|
UTSW |
17 |
32,358,163 (GRCm39) |
missense |
probably benign |
|
|
R5503:Notch3
|
UTSW |
17 |
32,366,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5698:Notch3
|
UTSW |
17 |
32,376,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Notch3
|
UTSW |
17 |
32,372,835 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5969:Notch3
|
UTSW |
17 |
32,372,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6050:Notch3
|
UTSW |
17 |
32,362,501 (GRCm39) |
missense |
probably benign |
|
|
R6274:Notch3
|
UTSW |
17 |
32,366,264 (GRCm39) |
missense |
probably benign |
|
|
R6276:Notch3
|
UTSW |
17 |
32,373,723 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6313:Notch3
|
UTSW |
17 |
32,370,128 (GRCm39) |
splice site |
probably null |
|
|
R6316:Notch3
|
UTSW |
17 |
32,356,787 (GRCm39) |
splice site |
probably null |
|
|
R6380:Notch3
|
UTSW |
17 |
32,363,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6401:Notch3
|
UTSW |
17 |
32,377,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6502:Notch3
|
UTSW |
17 |
32,377,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Notch3
|
UTSW |
17 |
32,362,458 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7140:Notch3
|
UTSW |
17 |
32,375,351 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7162:Notch3
|
UTSW |
17 |
32,365,423 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7171:Notch3
|
UTSW |
17 |
32,377,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Notch3
|
UTSW |
17 |
32,376,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Notch3
|
UTSW |
17 |
32,360,365 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7554:Notch3
|
UTSW |
17 |
32,341,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7575:Notch3
|
UTSW |
17 |
32,373,793 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7632:Notch3
|
UTSW |
17 |
32,377,480 (GRCm39) |
missense |
probably benign |
|
|
R7633:Notch3
|
UTSW |
17 |
32,377,596 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7860:Notch3
|
UTSW |
17 |
32,341,747 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8052:Notch3
|
UTSW |
17 |
32,365,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8250:Notch3
|
UTSW |
17 |
32,351,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8296:Notch3
|
UTSW |
17 |
32,341,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Notch3
|
UTSW |
17 |
32,377,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8458:Notch3
|
UTSW |
17 |
32,375,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8539:Notch3
|
UTSW |
17 |
32,375,329 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8865:Notch3
|
UTSW |
17 |
32,341,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8925:Notch3
|
UTSW |
17 |
32,372,792 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8927:Notch3
|
UTSW |
17 |
32,372,792 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9062:Notch3
|
UTSW |
17 |
32,341,692 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9079:Notch3
|
UTSW |
17 |
32,383,033 (GRCm39) |
intron |
probably benign |
|
|
R9089:Notch3
|
UTSW |
17 |
32,370,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9260:Notch3
|
UTSW |
17 |
32,362,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9289:Notch3
|
UTSW |
17 |
32,377,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Notch3
|
UTSW |
17 |
32,362,665 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9661:Notch3
|
UTSW |
17 |
32,373,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9779:Notch3
|
UTSW |
17 |
32,372,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Notch3
|
UTSW |
17 |
32,365,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Notch3
|
UTSW |
17 |
32,377,626 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Notch3
|
UTSW |
17 |
32,370,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Notch3
|
UTSW |
17 |
32,360,490 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Notch3
|
UTSW |
17 |
32,385,668 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAGATAAGCCATACCTCCC -3'
(R):5'- AAGATCCAGGTGGGCATTTC -3'
Sequencing Primer
(F):5'- GCCAAGTCACAATTTCACTAAGTTAC -3'
(R):5'- CAGGTGGGCATTTCCGCTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation