Incidental Mutation 'R4859:Notch4'
| ID |
372366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Notch4
|
| Ensembl Gene |
ENSMUSG00000015468 |
| Gene Name |
notch 4 |
| Synonyms |
Int3, Int-3, N4 |
| MMRRC Submission |
042470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34783242-34807477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34806154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1750
(Q1750L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015612]
[ENSMUST00000038244]
[ENSMUST00000150924]
[ENSMUST00000173389]
[ENSMUST00000173328]
[ENSMUST00000173772]
|
| AlphaFold |
P31695 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015612
AA Change: Q1750L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468
AA Change: Q1750L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EGF
|
24 |
60 |
3.2e-4 |
SMART |
|
EGF
|
64 |
112 |
1.07e-5 |
SMART |
|
EGF
|
118 |
152 |
5.49e-3 |
SMART |
|
EGF
|
156 |
189 |
9.33e-6 |
SMART |
|
EGF_CA
|
191 |
229 |
1.42e-10 |
SMART |
|
EGF
|
234 |
271 |
1.11e-3 |
SMART |
|
EGF
|
276 |
309 |
1.84e-4 |
SMART |
|
EGF_CA
|
311 |
350 |
2.52e-11 |
SMART |
|
EGF_CA
|
352 |
388 |
1.85e-9 |
SMART |
|
EGF
|
392 |
427 |
1.58e-3 |
SMART |
|
EGF_CA
|
429 |
470 |
2.46e-14 |
SMART |
|
EGF_CA
|
472 |
508 |
5.03e-11 |
SMART |
|
EGF_CA
|
510 |
546 |
6.74e-12 |
SMART |
|
EGF_CA
|
548 |
584 |
2.98e-13 |
SMART |
|
EGF_CA
|
586 |
622 |
7.63e-11 |
SMART |
|
EGF_like
|
645 |
686 |
2.86e1 |
SMART |
|
EGF
|
691 |
724 |
3.48e-5 |
SMART |
|
EGF
|
729 |
762 |
3.62e-3 |
SMART |
|
EGF_CA
|
764 |
800 |
1.48e-8 |
SMART |
|
EGF
|
806 |
839 |
1.74e-5 |
SMART |
|
EGF
|
844 |
877 |
2.3e-5 |
SMART |
|
EGF
|
881 |
924 |
3.59e-7 |
SMART |
|
EGF_CA
|
926 |
962 |
7.29e-8 |
SMART |
|
EGF_CA
|
965 |
1000 |
4.42e-7 |
SMART |
|
EGF_CA
|
1002 |
1040 |
4.56e-9 |
SMART |
|
EGF
|
1045 |
1081 |
6.16e-6 |
SMART |
|
EGF
|
1086 |
1122 |
8.65e-1 |
SMART |
|
EGF
|
1129 |
1167 |
1.45e-2 |
SMART |
|
NL
|
1159 |
1200 |
6.79e-13 |
SMART |
|
NL
|
1203 |
1242 |
2.01e-15 |
SMART |
|
NL
|
1243 |
1281 |
1.85e-14 |
SMART |
|
NOD
|
1287 |
1341 |
4.37e-8 |
SMART |
|
NODP
|
1373 |
1437 |
2.12e-6 |
SMART |
|
transmembrane domain
|
1441 |
1463 |
N/A |
INTRINSIC |
|
low complexity region
|
1525 |
1539 |
N/A |
INTRINSIC |
|
ANK
|
1578 |
1623 |
2.5e3 |
SMART |
|
ANK
|
1628 |
1657 |
1.12e-3 |
SMART |
|
ANK
|
1661 |
1691 |
5.01e-1 |
SMART |
|
ANK
|
1695 |
1724 |
1.65e-1 |
SMART |
|
ANK
|
1728 |
1757 |
4.56e-4 |
SMART |
|
ANK
|
1761 |
1790 |
2.88e-1 |
SMART |
|
low complexity region
|
1889 |
1906 |
N/A |
INTRINSIC |
|
low complexity region
|
1925 |
1937 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038244
|
| SMART Domains |
Protein: ENSMUSP00000045911
Gene: ENSMUSG00000034786
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
42 |
N/A |
INTRINSIC |
|
GoLoco
|
61 |
83 |
2.02e-6 |
SMART |
|
low complexity region
|
86 |
100 |
N/A |
INTRINSIC |
|
GoLoco
|
103 |
125 |
2.42e-4 |
SMART |
|
GoLoco
|
131 |
154 |
4.05e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126702
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151867
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173389
|
| SMART Domains |
Protein: ENSMUSP00000133574
Gene: ENSMUSG00000015468
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
EGF
|
28 |
64 |
3.2e-4 |
SMART |
|
EGF
|
68 |
116 |
1.07e-5 |
SMART |
|
EGF
|
122 |
156 |
5.49e-3 |
SMART |
|
EGF
|
160 |
193 |
9.33e-6 |
SMART |
|
EGF_CA
|
195 |
233 |
1.42e-10 |
SMART |
|
EGF
|
238 |
275 |
1.11e-3 |
SMART |
|
EGF
|
280 |
313 |
1.84e-4 |
SMART |
|
EGF_CA
|
315 |
354 |
2.52e-11 |
SMART |
|
EGF_CA
|
356 |
392 |
1.85e-9 |
SMART |
|
EGF
|
396 |
431 |
1.58e-3 |
SMART |
|
EGF_CA
|
433 |
474 |
2.46e-14 |
SMART |
|
EGF_CA
|
476 |
512 |
5.03e-11 |
SMART |
|
EGF_CA
|
514 |
550 |
6.74e-12 |
SMART |
|
EGF_CA
|
552 |
588 |
2.98e-13 |
SMART |
|
EGF_CA
|
590 |
626 |
7.63e-11 |
SMART |
|
EGF_like
|
649 |
690 |
2.86e1 |
SMART |
|
EGF
|
695 |
728 |
3.48e-5 |
SMART |
|
EGF
|
733 |
766 |
3.62e-3 |
SMART |
|
EGF_CA
|
768 |
804 |
1.48e-8 |
SMART |
|
EGF
|
810 |
843 |
1.74e-5 |
SMART |
|
EGF
|
848 |
881 |
2.3e-5 |
SMART |
|
EGF
|
885 |
928 |
3.59e-7 |
SMART |
|
EGF_like
|
930 |
955 |
7.02e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173328
|
| SMART Domains |
Protein: ENSMUSP00000133766
Gene: ENSMUSG00000034673
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PBC
|
1 |
161 |
5e-84 |
PFAM |
|
HOX
|
162 |
227 |
1.9e-18 |
SMART |
|
low complexity region
|
245 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151654
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173772
|
| SMART Domains |
Protein: ENSMUSP00000134130
Gene: ENSMUSG00000034786
| Domain | Start | End | E-Value | Type |
|---|
|
GoLoco
|
27 |
50 |
4.05e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.2415 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.5%
|
| Validation Efficiency |
100% (112/112) |
| 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 may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile but exhibit a slight delay in postnatal retinal angiogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
T |
A |
8: 41,207,580 (GRCm39) |
V282E |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,973,296 (GRCm39) |
T569A |
possibly damaging |
Het |
| Adam6a |
A |
G |
12: 113,509,609 (GRCm39) |
N661D |
probably damaging |
Het |
| Adck1 |
G |
A |
12: 88,407,865 (GRCm39) |
A199T |
probably benign |
Het |
| Adhfe1 |
A |
G |
1: 9,628,438 (GRCm39) |
Y270C |
probably damaging |
Het |
| Aldh16a1 |
C |
T |
7: 44,796,731 (GRCm39) |
R256H |
probably benign |
Het |
| Ap5z1 |
T |
C |
5: 142,459,748 (GRCm39) |
M466T |
possibly damaging |
Het |
| Aspm |
C |
T |
1: 139,397,131 (GRCm39) |
L908F |
probably damaging |
Het |
| Atp8b2 |
T |
A |
3: 89,853,287 (GRCm39) |
T743S |
probably benign |
Het |
| Bag2 |
G |
T |
1: 33,786,022 (GRCm39) |
T100K |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,076,246 (GRCm39) |
|
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,781,262 (GRCm39) |
Y848H |
probably damaging |
Het |
| Ccp110 |
T |
G |
7: 118,324,653 (GRCm39) |
V725G |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,051,418 (GRCm39) |
V405A |
probably benign |
Het |
| Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,667,554 (GRCm39) |
F510L |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,250,722 (GRCm39) |
M669K |
possibly damaging |
Het |
| Cnot10 |
C |
T |
9: 114,456,532 (GRCm39) |
A168T |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,868,565 (GRCm39) |
V1371A |
probably damaging |
Het |
| Dars2 |
A |
G |
1: 160,872,560 (GRCm39) |
L547P |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,325,226 (GRCm39) |
C483R |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,395,762 (GRCm39) |
L3888Q |
probably damaging |
Het |
| Dpysl2 |
A |
T |
14: 67,066,888 (GRCm39) |
Y182N |
probably damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,500,923 (GRCm39) |
F509L |
probably benign |
Het |
| Evc |
T |
C |
5: 37,458,253 (GRCm39) |
T85A |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,444,609 (GRCm39) |
T283A |
probably benign |
Het |
| Fem1al |
G |
T |
11: 29,775,178 (GRCm39) |
A93E |
probably damaging |
Het |
| Fgf14 |
C |
A |
14: 124,429,845 (GRCm39) |
R30L |
possibly damaging |
Het |
| Gbe1 |
T |
C |
16: 70,275,289 (GRCm39) |
L363P |
probably damaging |
Het |
| Gcg |
A |
G |
2: 62,307,189 (GRCm39) |
V124A |
probably damaging |
Het |
| Glb1l |
A |
G |
1: 75,176,963 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,780,409 (GRCm39) |
E449G |
probably damaging |
Het |
| Gon4l |
T |
C |
3: 88,802,655 (GRCm39) |
S1089P |
probably benign |
Het |
| Hgd |
T |
C |
16: 37,409,111 (GRCm39) |
L25P |
probably damaging |
Het |
| Hnf1a |
T |
C |
5: 115,093,311 (GRCm39) |
H318R |
possibly damaging |
Het |
| Hsd17b7 |
A |
C |
1: 169,794,826 (GRCm39) |
V71G |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,233,126 (GRCm39) |
S1742P |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,353,154 (GRCm39) |
S399G |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,691,078 (GRCm39) |
E552G |
probably benign |
Het |
| Kcnq4 |
C |
A |
4: 120,573,810 (GRCm39) |
R217L |
probably damaging |
Het |
| Klrg2 |
T |
C |
6: 38,604,540 (GRCm39) |
*201W |
probably null |
Het |
| Kndc1 |
T |
C |
7: 139,501,821 (GRCm39) |
S953P |
probably benign |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
| Lonp1 |
A |
G |
17: 56,933,587 (GRCm39) |
V96A |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,469,478 (GRCm39) |
K189E |
possibly damaging |
Het |
| Msantd5f8 |
A |
G |
4: 73,805,457 (GRCm39) |
S351P |
probably damaging |
Het |
| Msh2 |
G |
A |
17: 88,026,187 (GRCm39) |
V722I |
possibly damaging |
Het |
| Mtcl3 |
A |
C |
10: 29,026,390 (GRCm39) |
M491L |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,982,641 (GRCm39) |
Y1632H |
probably damaging |
Het |
| Nlrc4 |
T |
G |
17: 74,743,032 (GRCm39) |
K862T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,972,849 (GRCm39) |
V2066I |
possibly damaging |
Het |
| Or2v2 |
T |
C |
11: 49,003,993 (GRCm39) |
K187E |
probably damaging |
Het |
| Or4c15 |
T |
A |
2: 88,760,627 (GRCm39) |
I11L |
probably benign |
Het |
| Or4f14b |
A |
T |
2: 111,775,156 (GRCm39) |
I215N |
probably damaging |
Het |
| Or52d13 |
A |
T |
7: 103,110,243 (GRCm39) |
Y57* |
probably null |
Het |
| Or5m8 |
T |
C |
2: 85,823,075 (GRCm39) |
S305P |
probably damaging |
Het |
| Pde7a |
T |
A |
3: 19,295,655 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,575,892 (GRCm39) |
Y249* |
probably null |
Het |
| Ppp1r17 |
A |
T |
6: 56,003,449 (GRCm39) |
E87D |
probably damaging |
Het |
| Prss3 |
T |
A |
6: 41,350,857 (GRCm39) |
Q211L |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,526,989 (GRCm39) |
E413G |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,590,712 (GRCm39) |
H25R |
probably damaging |
Het |
| Scamp2 |
T |
C |
9: 57,488,934 (GRCm39) |
|
probably null |
Het |
| Scap |
T |
A |
9: 110,203,410 (GRCm39) |
|
probably benign |
Het |
| Sdc2 |
A |
C |
15: 33,032,602 (GRCm39) |
K175N |
probably damaging |
Het |
| Serpinb6d |
T |
A |
13: 33,851,547 (GRCm39) |
|
probably null |
Het |
| Sh3tc2 |
A |
G |
18: 62,146,164 (GRCm39) |
N1181S |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,441 (GRCm39) |
I46T |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,908,540 (GRCm39) |
M1T |
probably null |
Het |
| Slitrk6 |
T |
C |
14: 110,989,315 (GRCm39) |
T131A |
probably damaging |
Het |
| Spata1 |
C |
G |
3: 146,175,529 (GRCm39) |
D326H |
probably damaging |
Het |
| Tbck |
T |
G |
3: 132,507,288 (GRCm39) |
S753R |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,876,070 (GRCm39) |
I340M |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,330,877 (GRCm39) |
Y50F |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,194,078 (GRCm39) |
S701T |
probably benign |
Het |
| Trbv17 |
A |
T |
6: 41,140,223 (GRCm39) |
N26I |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,771,531 (GRCm39) |
S248T |
probably damaging |
Het |
| Vmn2r53 |
T |
G |
7: 12,335,330 (GRCm39) |
Q110P |
probably damaging |
Het |
| Vmn2r75 |
A |
G |
7: 85,797,611 (GRCm39) |
V734A |
probably benign |
Het |
| Wfdc11 |
A |
T |
2: 164,507,415 (GRCm39) |
M14K |
probably null |
Het |
| Xcr1 |
T |
A |
9: 123,685,712 (GRCm39) |
M17L |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,716,070 (GRCm39) |
I965T |
probably damaging |
Het |
| Zfp760 |
A |
T |
17: 21,942,511 (GRCm39) |
H562L |
probably damaging |
Het |
| Zfp760 |
A |
T |
17: 21,942,516 (GRCm39) |
R564* |
probably null |
Het |
| Znf41-ps |
T |
A |
4: 145,555,283 (GRCm39) |
|
noncoding transcript |
Het |
| Zyg11a |
A |
T |
4: 108,067,387 (GRCm39) |
I41N |
probably damaging |
Het |
|
| Other mutations in Notch4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Notch4
|
APN |
17 |
34,794,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01022:Notch4
|
APN |
17 |
34,784,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01356:Notch4
|
APN |
17 |
34,800,000 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01634:Notch4
|
APN |
17 |
34,791,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02150:Notch4
|
APN |
17 |
34,803,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02248:Notch4
|
APN |
17 |
34,806,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02271:Notch4
|
APN |
17 |
34,787,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02299:Notch4
|
APN |
17 |
34,796,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02561:Notch4
|
APN |
17 |
34,787,134 (GRCm39) |
splice site |
probably benign |
|
|
IGL02604:Notch4
|
APN |
17 |
34,784,362 (GRCm39) |
splice site |
probably null |
|
|
IGL03323:Notch4
|
APN |
17 |
34,801,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03366:Notch4
|
APN |
17 |
34,791,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03408:Notch4
|
APN |
17 |
34,784,542 (GRCm39) |
missense |
probably benign |
0.03 |
|
K3955:Notch4
|
UTSW |
17 |
34,787,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Notch4
|
UTSW |
17 |
34,784,337 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0366:Notch4
|
UTSW |
17 |
34,800,473 (GRCm39) |
splice site |
probably benign |
|
|
R0446:Notch4
|
UTSW |
17 |
34,784,337 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0490:Notch4
|
UTSW |
17 |
34,801,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Notch4
|
UTSW |
17 |
34,794,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Notch4
|
UTSW |
17 |
34,802,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0702:Notch4
|
UTSW |
17 |
34,794,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Notch4
|
UTSW |
17 |
34,784,306 (GRCm39) |
nonsense |
probably null |
|
|
R0854:Notch4
|
UTSW |
17 |
34,787,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1082:Notch4
|
UTSW |
17 |
34,806,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1196:Notch4
|
UTSW |
17 |
34,787,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1316:Notch4
|
UTSW |
17 |
34,786,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1493:Notch4
|
UTSW |
17 |
34,786,656 (GRCm39) |
nonsense |
probably null |
|
|
R1527:Notch4
|
UTSW |
17 |
34,784,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Notch4
|
UTSW |
17 |
34,787,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1718:Notch4
|
UTSW |
17 |
34,795,737 (GRCm39) |
splice site |
probably benign |
|
|
R1855:Notch4
|
UTSW |
17 |
34,799,936 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1988:Notch4
|
UTSW |
17 |
34,806,562 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2022:Notch4
|
UTSW |
17 |
34,806,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Notch4
|
UTSW |
17 |
34,806,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2078:Notch4
|
UTSW |
17 |
34,787,689 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2369:Notch4
|
UTSW |
17 |
34,804,924 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3846:Notch4
|
UTSW |
17 |
34,797,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3874:Notch4
|
UTSW |
17 |
34,797,043 (GRCm39) |
nonsense |
probably null |
|
|
R4087:Notch4
|
UTSW |
17 |
34,803,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4456:Notch4
|
UTSW |
17 |
34,802,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4628:Notch4
|
UTSW |
17 |
34,789,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Notch4
|
UTSW |
17 |
34,789,179 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4778:Notch4
|
UTSW |
17 |
34,801,485 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4818:Notch4
|
UTSW |
17 |
34,797,690 (GRCm39) |
splice site |
probably benign |
|
|
R4828:Notch4
|
UTSW |
17 |
34,789,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4830:Notch4
|
UTSW |
17 |
34,789,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Notch4
|
UTSW |
17 |
34,796,536 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5090:Notch4
|
UTSW |
17 |
34,799,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5290:Notch4
|
UTSW |
17 |
34,784,263 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5363:Notch4
|
UTSW |
17 |
34,806,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5860:Notch4
|
UTSW |
17 |
34,801,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6352:Notch4
|
UTSW |
17 |
34,786,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6385:Notch4
|
UTSW |
17 |
34,792,788 (GRCm39) |
missense |
probably null |
0.16 |
|
R6422:Notch4
|
UTSW |
17 |
34,803,533 (GRCm39) |
missense |
probably benign |
|
|
R6645:Notch4
|
UTSW |
17 |
34,806,790 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6836:Notch4
|
UTSW |
17 |
34,805,074 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6943:Notch4
|
UTSW |
17 |
34,802,577 (GRCm39) |
missense |
probably benign |
|
|
R6991:Notch4
|
UTSW |
17 |
34,803,774 (GRCm39) |
nonsense |
probably null |
|
|
R7078:Notch4
|
UTSW |
17 |
34,801,520 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7168:Notch4
|
UTSW |
17 |
34,791,667 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7182:Notch4
|
UTSW |
17 |
34,802,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Notch4
|
UTSW |
17 |
34,795,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7247:Notch4
|
UTSW |
17 |
34,791,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7556:Notch4
|
UTSW |
17 |
34,794,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Notch4
|
UTSW |
17 |
34,802,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7697:Notch4
|
UTSW |
17 |
34,789,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:Notch4
|
UTSW |
17 |
34,801,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Notch4
|
UTSW |
17 |
34,797,064 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8139:Notch4
|
UTSW |
17 |
34,803,774 (GRCm39) |
nonsense |
probably null |
|
|
R8171:Notch4
|
UTSW |
17 |
34,801,483 (GRCm39) |
nonsense |
probably null |
|
|
R8375:Notch4
|
UTSW |
17 |
34,787,228 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8448:Notch4
|
UTSW |
17 |
34,805,763 (GRCm39) |
splice site |
probably null |
|
|
R8543:Notch4
|
UTSW |
17 |
34,787,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776:Notch4
|
UTSW |
17 |
34,806,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Notch4
|
UTSW |
17 |
34,806,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Notch4
|
UTSW |
17 |
34,803,962 (GRCm39) |
splice site |
probably benign |
|
|
R8885:Notch4
|
UTSW |
17 |
34,803,470 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9126:Notch4
|
UTSW |
17 |
34,800,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9184:Notch4
|
UTSW |
17 |
34,806,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9425:Notch4
|
UTSW |
17 |
34,795,801 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9434:Notch4
|
UTSW |
17 |
34,801,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9462:Notch4
|
UTSW |
17 |
34,806,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9664:Notch4
|
UTSW |
17 |
34,784,601 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9772:Notch4
|
UTSW |
17 |
34,792,883 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0054:Notch4
|
UTSW |
17 |
34,803,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Notch4
|
UTSW |
17 |
34,805,058 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Notch4
|
UTSW |
17 |
34,806,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Notch4
|
UTSW |
17 |
34,806,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Notch4
|
UTSW |
17 |
34,806,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Notch4
|
UTSW |
17 |
34,794,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGAAGAATCCAAGTAGCTCTC -3'
(R):5'- AGGAAAAGCGGCGTCTGTTC -3'
Sequencing Primer
(F):5'- TGAAGAATCCAAGTAGCTCTCCCTTC -3'
(R):5'- CGTCTGTTCCTGCGGAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation