Incidental Mutation 'R5050:Jag1'
| ID |
458147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jag1
|
| Ensembl Gene |
ENSMUSG00000027276 |
| Gene Name |
jagged 1 |
| Synonyms |
Serrate-1, ABE2, Gsfabe2, Ozz, Headturner, Htu |
| MMRRC Submission |
042640-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5050 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
136923371-136958440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136927074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 895
(V895A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028735
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028735]
|
| AlphaFold |
Q9QXX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028735
AA Change: V895A
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028735
Gene: ENSMUSG00000027276
AA Change: V895A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:MNNL
|
31 |
109 |
2.8e-31 |
PFAM |
|
DSL
|
167 |
229 |
1.85e-37 |
SMART |
|
EGF
|
233 |
263 |
1.66e1 |
SMART |
|
EGF
|
264 |
294 |
2.25e1 |
SMART |
|
EGF_CA
|
296 |
334 |
4.42e-7 |
SMART |
|
EGF
|
339 |
372 |
2.64e-5 |
SMART |
|
EGF_CA
|
374 |
410 |
2.89e-11 |
SMART |
|
EGF_CA
|
412 |
448 |
2.8e-9 |
SMART |
|
EGF_CA
|
450 |
485 |
2.31e-10 |
SMART |
|
EGF_CA
|
487 |
523 |
1.69e-12 |
SMART |
|
EGF_CA
|
525 |
561 |
4.19e-8 |
SMART |
|
EGF
|
577 |
627 |
2.16e-1 |
SMART |
|
EGF_CA
|
629 |
665 |
2.56e-12 |
SMART |
|
EGF_CA
|
667 |
703 |
6.91e-9 |
SMART |
|
EGF
|
708 |
741 |
5.88e-3 |
SMART |
|
EGF
|
747 |
780 |
9.62e-8 |
SMART |
|
EGF_CA
|
782 |
818 |
3.59e-7 |
SMART |
|
EGF_CA
|
820 |
856 |
3.81e-11 |
SMART |
|
VWC
|
863 |
930 |
4.79e-16 |
SMART |
|
transmembrane domain
|
1069 |
1091 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133640
|
| Meta Mutation Damage Score |
0.7219 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (69/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit extensive hemorrhaging and die prior to embryonic day 11.5, while heterozygotes exhibit defects of the eye. Heterozygotes for missense mutations have inner ear abnormalities. Other mutant mice display abnormal head movements. [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 |
|---|
| Ahnak |
A |
G |
19: 8,989,822 (GRCm39) |
|
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,094,843 (GRCm39) |
I108T |
probably benign |
Het |
| Apobec1 |
T |
C |
6: 122,568,061 (GRCm39) |
M1V |
probably null |
Het |
| Aqr |
A |
T |
2: 113,943,090 (GRCm39) |
L1161* |
probably null |
Het |
| Aqr |
A |
T |
2: 114,000,506 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
A |
G |
18: 61,637,402 (GRCm39) |
I420T |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,350,541 (GRCm39) |
E435K |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,129,858 (GRCm39) |
H513N |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,814,738 (GRCm39) |
F29L |
probably benign |
Het |
| Ccr6 |
T |
C |
17: 8,474,936 (GRCm39) |
L47S |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,900,018 (GRCm39) |
Y444* |
probably null |
Het |
| Cdh17 |
A |
G |
4: 11,784,654 (GRCm39) |
Y270C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,778,233 (GRCm39) |
F16S |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,804,014 (GRCm39) |
K141R |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,664,578 (GRCm39) |
I494F |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,704,184 (GRCm39) |
D104V |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,922,500 (GRCm39) |
L553Q |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,536,255 (GRCm39) |
D2596A |
probably benign |
Het |
| Dync1li2 |
T |
C |
8: 105,164,073 (GRCm39) |
K151E |
probably damaging |
Het |
| Eno4 |
C |
T |
19: 58,943,928 (GRCm39) |
H297Y |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,019,156 (GRCm39) |
D976E |
possibly damaging |
Het |
| Fhip2a |
T |
A |
19: 57,371,602 (GRCm39) |
F571L |
probably damaging |
Het |
| Gm4553 |
C |
A |
7: 141,718,773 (GRCm39) |
K218N |
unknown |
Het |
| Gpld1 |
A |
T |
13: 25,146,739 (GRCm39) |
T234S |
probably benign |
Het |
| Gtpbp6 |
A |
T |
5: 110,252,567 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
T |
C |
19: 55,229,367 (GRCm39) |
E101G |
probably benign |
Het |
| Gvin3 |
T |
C |
7: 106,196,179 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
G |
A |
16: 18,744,609 (GRCm39) |
R442K |
possibly damaging |
Het |
| Hrh3 |
A |
G |
2: 179,742,350 (GRCm39) |
L394P |
probably damaging |
Het |
| Igkv1-110 |
T |
A |
6: 68,248,176 (GRCm39) |
F95Y |
probably damaging |
Het |
| Iqgap3 |
T |
G |
3: 87,997,493 (GRCm39) |
V223G |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,671,069 (GRCm39) |
T3A |
probably damaging |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Large2 |
A |
T |
2: 92,198,124 (GRCm39) |
L282Q |
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,369,680 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
T |
2: 91,322,767 (GRCm39) |
I1119F |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,751,299 (GRCm39) |
H684R |
probably benign |
Het |
| Mier3 |
C |
T |
13: 111,851,107 (GRCm39) |
A367V |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,213,685 (GRCm39) |
V1579A |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,929,932 (GRCm39) |
D6V |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,473,670 (GRCm39) |
I1568V |
probably benign |
Het |
| Or52e8b |
T |
A |
7: 104,673,594 (GRCm39) |
I198F |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,127,766 (GRCm39) |
|
probably benign |
Het |
| Plek |
T |
C |
11: 16,945,216 (GRCm39) |
D38G |
probably damaging |
Het |
| Polr2f |
A |
G |
15: 79,028,862 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
A |
G |
16: 75,685,645 (GRCm39) |
S38P |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,422,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Sharpin |
A |
T |
15: 76,232,530 (GRCm39) |
L160H |
probably damaging |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Syn3 |
T |
C |
10: 86,243,532 (GRCm39) |
T136A |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,176,278 (GRCm39) |
V335M |
possibly damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,325 (GRCm39) |
V56L |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,544,995 (GRCm39) |
L2337P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,715,155 (GRCm39) |
|
probably benign |
Het |
| Tysnd1 |
T |
A |
10: 61,532,050 (GRCm39) |
I234N |
probably damaging |
Het |
| Vmn2r51 |
T |
C |
7: 9,834,349 (GRCm39) |
K230E |
probably damaging |
Het |
|
| Other mutations in Jag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Jag1
|
APN |
2 |
136,927,952 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00912:Jag1
|
APN |
2 |
136,957,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01104:Jag1
|
APN |
2 |
136,926,298 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01529:Jag1
|
APN |
2 |
136,926,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01578:Jag1
|
APN |
2 |
136,941,971 (GRCm39) |
splice site |
probably benign |
|
|
IGL01720:Jag1
|
APN |
2 |
136,929,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Jag1
|
APN |
2 |
136,957,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02402:Jag1
|
APN |
2 |
136,927,858 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02434:Jag1
|
APN |
2 |
136,929,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02543:Jag1
|
APN |
2 |
136,933,867 (GRCm39) |
splice site |
probably benign |
|
|
IGL02650:Jag1
|
APN |
2 |
136,957,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03010:Jag1
|
APN |
2 |
136,935,118 (GRCm39) |
splice site |
probably benign |
|
|
IGL03102:Jag1
|
APN |
2 |
136,926,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
Grenville
|
UTSW |
2 |
136,929,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4651001:Jag1
|
UTSW |
2 |
136,943,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0227:Jag1
|
UTSW |
2 |
136,957,538 (GRCm39) |
missense |
probably benign |
|
|
R0306:Jag1
|
UTSW |
2 |
136,927,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Jag1
|
UTSW |
2 |
136,937,365 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0594:Jag1
|
UTSW |
2 |
136,929,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0838:Jag1
|
UTSW |
2 |
136,935,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0879:Jag1
|
UTSW |
2 |
136,942,001 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0900:Jag1
|
UTSW |
2 |
136,932,802 (GRCm39) |
frame shift |
probably null |
|
|
R0972:Jag1
|
UTSW |
2 |
136,925,371 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1083:Jag1
|
UTSW |
2 |
136,938,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1182:Jag1
|
UTSW |
2 |
136,933,409 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1292:Jag1
|
UTSW |
2 |
136,925,393 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1464:Jag1
|
UTSW |
2 |
136,957,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1464:Jag1
|
UTSW |
2 |
136,957,568 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1500:Jag1
|
UTSW |
2 |
136,957,558 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1936:Jag1
|
UTSW |
2 |
136,925,393 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1937:Jag1
|
UTSW |
2 |
136,925,393 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1939:Jag1
|
UTSW |
2 |
136,925,393 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1998:Jag1
|
UTSW |
2 |
136,932,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Jag1
|
UTSW |
2 |
136,926,599 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2213:Jag1
|
UTSW |
2 |
136,931,812 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2300:Jag1
|
UTSW |
2 |
136,938,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Jag1
|
UTSW |
2 |
136,926,620 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4179:Jag1
|
UTSW |
2 |
136,943,578 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4212:Jag1
|
UTSW |
2 |
136,926,990 (GRCm39) |
missense |
probably benign |
|
|
R4630:Jag1
|
UTSW |
2 |
136,927,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Jag1
|
UTSW |
2 |
136,936,376 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4705:Jag1
|
UTSW |
2 |
136,938,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Jag1
|
UTSW |
2 |
136,929,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5288:Jag1
|
UTSW |
2 |
136,937,464 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5367:Jag1
|
UTSW |
2 |
136,927,014 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5385:Jag1
|
UTSW |
2 |
136,937,464 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5386:Jag1
|
UTSW |
2 |
136,937,464 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5430:Jag1
|
UTSW |
2 |
136,943,626 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5472:Jag1
|
UTSW |
2 |
136,926,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Jag1
|
UTSW |
2 |
136,930,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Jag1
|
UTSW |
2 |
136,931,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5804:Jag1
|
UTSW |
2 |
136,930,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6406:Jag1
|
UTSW |
2 |
136,929,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6503:Jag1
|
UTSW |
2 |
136,943,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6721:Jag1
|
UTSW |
2 |
136,936,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6826:Jag1
|
UTSW |
2 |
136,958,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7055:Jag1
|
UTSW |
2 |
136,957,409 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7214:Jag1
|
UTSW |
2 |
136,948,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7359:Jag1
|
UTSW |
2 |
136,926,226 (GRCm39) |
missense |
probably benign |
|
|
R7422:Jag1
|
UTSW |
2 |
136,926,975 (GRCm39) |
missense |
probably benign |
|
|
R7919:Jag1
|
UTSW |
2 |
136,930,366 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8071:Jag1
|
UTSW |
2 |
136,943,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8768:Jag1
|
UTSW |
2 |
136,932,708 (GRCm39) |
intron |
probably benign |
|
|
R8768:Jag1
|
UTSW |
2 |
136,943,521 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8898:Jag1
|
UTSW |
2 |
136,935,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Jag1
|
UTSW |
2 |
136,931,143 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9060:Jag1
|
UTSW |
2 |
136,931,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:Jag1
|
UTSW |
2 |
136,930,354 (GRCm39) |
missense |
probably benign |
|
|
R9193:Jag1
|
UTSW |
2 |
136,931,764 (GRCm39) |
missense |
probably null |
0.99 |
|
R9200:Jag1
|
UTSW |
2 |
136,929,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9241:Jag1
|
UTSW |
2 |
136,926,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9326:Jag1
|
UTSW |
2 |
136,931,745 (GRCm39) |
missense |
probably benign |
|
|
R9334:Jag1
|
UTSW |
2 |
136,943,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Jag1
|
UTSW |
2 |
136,924,948 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9444:Jag1
|
UTSW |
2 |
136,936,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Jag1
|
UTSW |
2 |
136,936,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF016:Jag1
|
UTSW |
2 |
136,938,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Jag1
|
UTSW |
2 |
136,927,071 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Jag1
|
UTSW |
2 |
136,926,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGAAAGTGATGTTTGCACAG -3'
(R):5'- ATCTTGCATCACCATGGGGAG -3'
Sequencing Primer
(F):5'- TGCACAGTTATCCTGGTAATAGG -3'
(R):5'- CATCACCATGGGGAGAGTGATACTTG -3'
|
| Posted On |
2017-02-17 |
Incidental Mutation