Incidental Mutation 'R6251:Notch1'
| ID |
506205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Notch1
|
| Ensembl Gene |
ENSMUSG00000026923 |
| Gene Name |
notch 1 |
| Synonyms |
9930111A19Rik, Motch A, Tan1, Mis6, lin-12, N1 |
| MMRRC Submission |
044368-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6251 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26347914-26393834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 26364182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 846
(E846D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028288]
[ENSMUST00000132820]
|
| AlphaFold |
Q01705 |
| PDB Structure |
The Crystal Structure of a Partial Mouse Notch-1 Ankyrin Domain: Repeats 4 Through 7 Preserve an Ankyrin Fold [X-RAY DIFFRACTION]
Mouse Notch 1 Ankyrin Repeat Intracellular Domain [X-RAY DIFFRACTION]
Structure of sugar modified epidermal growth factor-like repeat 12 of mouse Notch-1 receptor [SOLUTION NMR]
Structure of epidermal growth factor-like repeat 12 of mouse Notch-1 receptor [SOLUTION NMR]
Structure of O-fucosylated epidermal growth factor-like repeat 12 of mouse Notch-1 receptor [SOLUTION NMR]
Factor inhibiting HIF-1 Alpha in complex with Notch 1 fragment mouse notch (1930-1949) peptide [X-RAY DIFFRACTION]
Factor inhibiting HIF-1 Alpha in complex with Notch 1 fragment mouse notch (1997-2016) peptide [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028288
AA Change: E846D
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028288
Gene: ENSMUSG00000026923
AA Change: E846D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
EGF
|
23 |
58 |
1.63e1 |
SMART |
|
EGF
|
62 |
99 |
4.29e-5 |
SMART |
|
EGF
|
105 |
139 |
6.25e-7 |
SMART |
|
EGF_CA
|
140 |
176 |
1.02e-6 |
SMART |
|
EGF_CA
|
178 |
216 |
4.21e-13 |
SMART |
|
EGF
|
221 |
255 |
6.7e-7 |
SMART |
|
EGF_CA
|
257 |
293 |
6.8e-8 |
SMART |
|
EGF_CA
|
295 |
333 |
1.16e-10 |
SMART |
|
EGF_CA
|
335 |
371 |
3.17e-8 |
SMART |
|
EGF
|
375 |
410 |
5.32e-1 |
SMART |
|
EGF_CA
|
412 |
450 |
4.59e-14 |
SMART |
|
EGF_CA
|
452 |
488 |
1.02e-11 |
SMART |
|
EGF_CA
|
490 |
526 |
4.81e-8 |
SMART |
|
EGF_CA
|
528 |
564 |
3.19e-13 |
SMART |
|
EGF_CA
|
566 |
601 |
1.91e-11 |
SMART |
|
EGF_CA
|
603 |
639 |
1.78e-11 |
SMART |
|
EGF_CA
|
641 |
676 |
9.62e-8 |
SMART |
|
EGF_CA
|
678 |
714 |
2.38e-12 |
SMART |
|
EGF_CA
|
716 |
751 |
5.23e-9 |
SMART |
|
EGF_CA
|
753 |
789 |
6.25e-7 |
SMART |
|
EGF_CA
|
791 |
827 |
1.1e-11 |
SMART |
|
EGF
|
832 |
867 |
2.03e-6 |
SMART |
|
EGF_CA
|
869 |
905 |
5.73e-15 |
SMART |
|
EGF_CA
|
907 |
943 |
4.56e-9 |
SMART |
|
EGF_CA
|
945 |
981 |
1.64e-10 |
SMART |
|
EGF_CA
|
983 |
1019 |
5.83e-7 |
SMART |
|
EGF_CA
|
1021 |
1057 |
1.05e-13 |
SMART |
|
EGF
|
1062 |
1095 |
8.12e-6 |
SMART |
|
EGF
|
1100 |
1143 |
5.66e-5 |
SMART |
|
EGF_CA
|
1145 |
1181 |
1.1e-11 |
SMART |
|
EGF_CA
|
1183 |
1219 |
3.87e-12 |
SMART |
|
EGF_CA
|
1221 |
1265 |
2.89e-11 |
SMART |
|
EGF_CA
|
1267 |
1305 |
1.2e-8 |
SMART |
|
EGF
|
1310 |
1346 |
5.74e-6 |
SMART |
|
EGF
|
1351 |
1384 |
4.1e-2 |
SMART |
|
EGF
|
1390 |
1426 |
2.66e-1 |
SMART |
|
NL
|
1442 |
1480 |
4.08e-16 |
SMART |
|
NL
|
1483 |
1522 |
1.08e-15 |
SMART |
|
NL
|
1523 |
1562 |
7.39e-14 |
SMART |
|
NOD
|
1566 |
1622 |
1.81e-32 |
SMART |
|
NODP
|
1660 |
1722 |
3.27e-30 |
SMART |
|
low complexity region
|
1729 |
1746 |
N/A |
INTRINSIC |
|
ANK
|
1870 |
1912 |
1.07e2 |
SMART |
|
ANK
|
1917 |
1946 |
4.82e-3 |
SMART |
|
ANK
|
1950 |
1980 |
6.71e-2 |
SMART |
|
ANK
|
1984 |
2013 |
1.23e0 |
SMART |
|
ANK
|
2017 |
2046 |
9.13e-4 |
SMART |
|
ANK
|
2050 |
2079 |
2.97e-3 |
SMART |
|
low complexity region
|
2205 |
2222 |
N/A |
INTRINSIC |
|
low complexity region
|
2364 |
2395 |
N/A |
INTRINSIC |
|
DUF3454
|
2453 |
2517 |
2.01e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183922
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,445 (GRCm39) |
S36P |
probably damaging |
Het |
| Agmo |
A |
G |
12: 37,302,538 (GRCm39) |
D125G |
probably damaging |
Het |
| Arhgap26 |
A |
T |
18: 39,490,880 (GRCm39) |
S328C |
probably null |
Het |
| Arl6 |
T |
C |
16: 59,439,169 (GRCm39) |
D175G |
probably damaging |
Het |
| Asb3 |
G |
A |
11: 31,005,559 (GRCm39) |
A192T |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,126,573 (GRCm39) |
M1110L |
possibly damaging |
Het |
| Cacna1i |
T |
C |
15: 80,220,883 (GRCm39) |
I175T |
probably damaging |
Het |
| Car15 |
A |
T |
16: 17,655,227 (GRCm39) |
I71N |
probably benign |
Het |
| Casq1 |
T |
A |
1: 172,044,407 (GRCm39) |
Y140F |
probably benign |
Het |
| Ccdc93 |
C |
T |
1: 121,362,269 (GRCm39) |
T17M |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,323 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,558,094 (GRCm39) |
V170D |
probably benign |
Het |
| Cyb5r3 |
T |
C |
15: 83,038,917 (GRCm39) |
D224G |
probably benign |
Het |
| Daam1 |
G |
A |
12: 72,035,723 (GRCm39) |
G964R |
probably damaging |
Het |
| Daglb |
T |
A |
5: 143,475,689 (GRCm39) |
L383Q |
probably damaging |
Het |
| Dazap2 |
T |
G |
15: 100,514,864 (GRCm39) |
H28Q |
possibly damaging |
Het |
| Dnttip2 |
A |
T |
3: 122,068,905 (GRCm39) |
D40V |
probably benign |
Het |
| Dynlt2b |
T |
A |
16: 32,245,727 (GRCm39) |
D125E |
possibly damaging |
Het |
| Epn1 |
G |
T |
7: 5,098,925 (GRCm39) |
D406Y |
probably damaging |
Het |
| Epn1 |
G |
T |
7: 5,098,935 (GRCm39) |
R409L |
probably damaging |
Het |
| Evc |
T |
C |
5: 37,457,843 (GRCm39) |
T966A |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,314,375 (GRCm39) |
D269G |
probably damaging |
Het |
| Gfra3 |
TGCGC |
TGC |
18: 34,828,864 (GRCm39) |
|
probably null |
Het |
| Gpr87 |
A |
T |
3: 59,086,528 (GRCm39) |
F326I |
probably damaging |
Het |
| Hivep3 |
C |
A |
4: 119,952,137 (GRCm39) |
P151H |
probably damaging |
Het |
| Kcnj14 |
T |
A |
7: 45,467,440 (GRCm39) |
E302V |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 921,693 (GRCm39) |
Y534H |
probably damaging |
Homo |
| Map3k5 |
T |
A |
10: 20,014,006 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
A |
G |
4: 32,748,590 (GRCm39) |
T4212A |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,504 (GRCm39) |
S122R |
probably damaging |
Het |
| Mtarc1 |
G |
A |
1: 184,527,648 (GRCm39) |
R271W |
probably damaging |
Het |
| Nectin3 |
A |
T |
16: 46,215,513 (GRCm39) |
H76Q |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,534 (GRCm39) |
S164P |
probably benign |
Het |
| Or4a67 |
T |
C |
2: 88,598,632 (GRCm39) |
E9G |
probably damaging |
Het |
| Or8b36 |
GTTT |
GTTTGCTTTTT |
9: 37,937,842 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TT |
TTGCTGTGT |
9: 37,937,844 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
G |
GGGATTGC |
9: 37,937,833 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TGTTT |
TGTTTGCAGTTT |
9: 37,937,841 (GRCm39) |
|
probably null |
Het |
| Or8g18 |
T |
A |
9: 39,149,514 (GRCm39) |
I72F |
possibly damaging |
Het |
| Pfkl |
C |
T |
10: 77,825,399 (GRCm39) |
|
probably null |
Het |
| Pigz |
T |
C |
16: 31,764,424 (GRCm39) |
V494A |
possibly damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,531,247 (GRCm39) |
V516A |
probably benign |
Het |
| Polr2b |
G |
A |
5: 77,496,141 (GRCm39) |
R1104K |
probably benign |
Het |
| Rap1a |
A |
T |
3: 105,639,311 (GRCm39) |
L116* |
probably null |
Het |
| Rnf114 |
T |
C |
2: 167,356,649 (GRCm39) |
*230R |
probably null |
Het |
| Rtl1 |
G |
T |
12: 109,560,083 (GRCm39) |
N585K |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,802,795 (GRCm39) |
R110I |
possibly damaging |
Het |
| Spink6 |
T |
C |
18: 44,207,498 (GRCm39) |
|
probably null |
Het |
| Spopfm1 |
G |
T |
3: 94,173,208 (GRCm39) |
S72I |
probably damaging |
Het |
| Stk39 |
A |
T |
2: 68,137,383 (GRCm39) |
|
probably null |
Het |
| Tcstv2a |
T |
C |
13: 120,724,907 (GRCm39) |
|
probably benign |
Het |
| Tcte1 |
A |
T |
17: 45,846,085 (GRCm39) |
T230S |
probably benign |
Het |
| Tecpr1 |
C |
A |
5: 144,135,394 (GRCm39) |
V1020L |
probably damaging |
Het |
| Tmc7 |
T |
C |
7: 118,160,261 (GRCm39) |
Y192C |
possibly damaging |
Het |
| Trim63 |
A |
T |
4: 134,050,537 (GRCm39) |
T274S |
probably benign |
Het |
| Wdr43 |
G |
A |
17: 71,957,048 (GRCm39) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,160,677 (GRCm39) |
I750T |
probably benign |
Het |
|
| Other mutations in Notch1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Notch1
|
APN |
2 |
26,350,058 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01343:Notch1
|
APN |
2 |
26,362,917 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02066:Notch1
|
APN |
2 |
26,350,408 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02158:Notch1
|
APN |
2 |
26,350,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Notch1
|
APN |
2 |
26,358,515 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03280:Notch1
|
APN |
2 |
26,367,886 (GRCm39) |
intron |
probably benign |
|
|
IGL03338:Notch1
|
APN |
2 |
26,349,971 (GRCm39) |
missense |
probably benign |
|
|
Antero
|
UTSW |
2 |
26,366,126 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
march
|
UTSW |
2 |
26,359,911 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4494001:Notch1
|
UTSW |
2 |
26,356,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Notch1
|
UTSW |
2 |
26,363,830 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0025:Notch1
|
UTSW |
2 |
26,360,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0129:Notch1
|
UTSW |
2 |
26,350,470 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0285:Notch1
|
UTSW |
2 |
26,350,873 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0531:Notch1
|
UTSW |
2 |
26,356,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0747:Notch1
|
UTSW |
2 |
26,362,152 (GRCm39) |
missense |
unknown |
|
|
R1440:Notch1
|
UTSW |
2 |
26,370,976 (GRCm39) |
intron |
probably benign |
|
|
R1502:Notch1
|
UTSW |
2 |
26,374,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1539:Notch1
|
UTSW |
2 |
26,362,125 (GRCm39) |
nonsense |
probably null |
|
|
R1623:Notch1
|
UTSW |
2 |
26,368,624 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1844:Notch1
|
UTSW |
2 |
26,350,446 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1863:Notch1
|
UTSW |
2 |
26,359,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Notch1
|
UTSW |
2 |
26,371,591 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1926:Notch1
|
UTSW |
2 |
26,371,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Notch1
|
UTSW |
2 |
26,350,873 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2196:Notch1
|
UTSW |
2 |
26,353,816 (GRCm39) |
nonsense |
probably null |
|
|
R2209:Notch1
|
UTSW |
2 |
26,350,019 (GRCm39) |
missense |
probably benign |
|
|
R2382:Notch1
|
UTSW |
2 |
26,363,793 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2508:Notch1
|
UTSW |
2 |
26,355,485 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2873:Notch1
|
UTSW |
2 |
26,350,247 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2874:Notch1
|
UTSW |
2 |
26,350,247 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3798:Notch1
|
UTSW |
2 |
26,368,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4019:Notch1
|
UTSW |
2 |
26,371,154 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4305:Notch1
|
UTSW |
2 |
26,367,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Notch1
|
UTSW |
2 |
26,350,048 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4504:Notch1
|
UTSW |
2 |
26,362,189 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4624:Notch1
|
UTSW |
2 |
26,368,093 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4659:Notch1
|
UTSW |
2 |
26,360,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4703:Notch1
|
UTSW |
2 |
26,361,170 (GRCm39) |
missense |
probably benign |
|
|
R4869:Notch1
|
UTSW |
2 |
26,361,191 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4938:Notch1
|
UTSW |
2 |
26,364,136 (GRCm39) |
nonsense |
probably null |
|
|
R4989:Notch1
|
UTSW |
2 |
26,371,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Notch1
|
UTSW |
2 |
26,366,126 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5283:Notch1
|
UTSW |
2 |
26,358,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5303:Notch1
|
UTSW |
2 |
26,368,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5635:Notch1
|
UTSW |
2 |
26,366,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Notch1
|
UTSW |
2 |
26,363,704 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5926:Notch1
|
UTSW |
2 |
26,366,116 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5947:Notch1
|
UTSW |
2 |
26,352,540 (GRCm39) |
intron |
probably benign |
|
|
R6053:Notch1
|
UTSW |
2 |
26,362,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6161:Notch1
|
UTSW |
2 |
26,358,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6162:Notch1
|
UTSW |
2 |
26,352,207 (GRCm39) |
missense |
probably benign |
|
|
R6174:Notch1
|
UTSW |
2 |
26,375,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6199:Notch1
|
UTSW |
2 |
26,359,911 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6209:Notch1
|
UTSW |
2 |
26,362,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Notch1
|
UTSW |
2 |
26,362,110 (GRCm39) |
missense |
unknown |
|
|
R6723:Notch1
|
UTSW |
2 |
26,368,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Notch1
|
UTSW |
2 |
26,350,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7020:Notch1
|
UTSW |
2 |
26,371,586 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7058:Notch1
|
UTSW |
2 |
26,353,830 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7154:Notch1
|
UTSW |
2 |
26,349,950 (GRCm39) |
missense |
probably benign |
|
|
R7291:Notch1
|
UTSW |
2 |
26,366,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7379:Notch1
|
UTSW |
2 |
26,369,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7560:Notch1
|
UTSW |
2 |
26,350,177 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7610:Notch1
|
UTSW |
2 |
26,368,191 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7833:Notch1
|
UTSW |
2 |
26,349,545 (GRCm39) |
makesense |
probably null |
|
|
R7988:Notch1
|
UTSW |
2 |
26,361,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8493:Notch1
|
UTSW |
2 |
26,362,251 (GRCm39) |
missense |
unknown |
|
|
R8514:Notch1
|
UTSW |
2 |
26,362,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Notch1
|
UTSW |
2 |
26,354,917 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8677:Notch1
|
UTSW |
2 |
26,359,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Notch1
|
UTSW |
2 |
26,368,004 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8833:Notch1
|
UTSW |
2 |
26,371,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8964:Notch1
|
UTSW |
2 |
26,371,062 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9091:Notch1
|
UTSW |
2 |
26,369,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9144:Notch1
|
UTSW |
2 |
26,349,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9145:Notch1
|
UTSW |
2 |
26,349,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9151:Notch1
|
UTSW |
2 |
26,367,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9270:Notch1
|
UTSW |
2 |
26,369,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9463:Notch1
|
UTSW |
2 |
26,359,845 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9546:Notch1
|
UTSW |
2 |
26,371,127 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9674:Notch1
|
UTSW |
2 |
26,361,308 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0018:Notch1
|
UTSW |
2 |
26,352,239 (GRCm39) |
nonsense |
probably null |
|
|
X0066:Notch1
|
UTSW |
2 |
26,360,347 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1088:Notch1
|
UTSW |
2 |
26,367,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Notch1
|
UTSW |
2 |
26,350,321 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGTCTGTTTATCTCCAG -3'
(R):5'- CTGGCTGGCCAATCATACAG -3'
Sequencing Primer
(F):5'- AGAGCTTCCCAGAGCTTCC -3'
(R):5'- GCTGGCCAATCATACAGCATCTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation