Incidental Mutation 'R8696:Notch1'
ID 668670
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 068550-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 26347914-26393834 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 26368004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably benign
Transcript: ENSMUST00000028288
SMART Domains Protein: ENSMUSP00000028288
Gene: ENSMUSG00000026923

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000132820
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,687,235 (GRCm39) N423S probably benign Het
Adgrl4 T C 3: 151,248,344 (GRCm39) L672P probably damaging Het
Akr1b10 C T 6: 34,369,067 (GRCm39) T182I possibly damaging Het
Ankrd33 A G 15: 101,014,864 (GRCm39) I84V probably benign Het
Arhgap32 A G 9: 32,159,799 (GRCm39) Y272C possibly damaging Het
Arid4a T C 12: 71,110,090 (GRCm39) S144P probably damaging Het
Bicd1 A G 6: 149,415,285 (GRCm39) D666G probably damaging Het
Blk A T 14: 63,618,149 (GRCm39) probably benign Het
Btbd2 C T 10: 80,480,515 (GRCm39) R366Q possibly damaging Het
Cacna1i T C 15: 80,266,175 (GRCm39) V1554A probably damaging Het
Camsap3 T C 8: 3,653,614 (GRCm39) L428P probably damaging Het
Ccdc30 T G 4: 119,234,505 (GRCm39) Y69S possibly damaging Het
Ccdc7a T A 8: 129,715,244 (GRCm39) E280V probably damaging Het
Cdk11b T C 4: 155,732,779 (GRCm39) V539A unknown Het
Ceacam3 A T 7: 16,893,937 (GRCm39) N483Y Het
Cenpf C T 1: 189,390,194 (GRCm39) A1213T probably benign Het
Chrna6 G T 8: 27,897,195 (GRCm39) Y227* probably null Het
Cntnap5c A T 17: 58,601,294 (GRCm39) D814V probably damaging Het
Csl A T 10: 99,594,826 (GRCm39) Y80N probably damaging Het
Ctsm A G 13: 61,685,521 (GRCm39) L297P probably damaging Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dhx8 T C 11: 101,623,958 (GRCm39) V31A unknown Het
Dis3l2 G T 1: 86,719,162 (GRCm39) G131* probably null Het
Dkk1 G A 19: 30,526,688 (GRCm39) A31V probably damaging Het
Dlx3 C T 11: 95,012,596 (GRCm39) R130* probably null Het
Dnajc24 T C 2: 105,832,315 (GRCm39) M23V probably benign Het
Dnmbp T A 19: 43,862,662 (GRCm39) N76I probably damaging Het
Ezh1 T C 11: 101,100,305 (GRCm39) N226S probably benign Het
Fabp9 C T 3: 10,259,047 (GRCm39) V120M possibly damaging Het
Fcrlb A G 1: 170,739,648 (GRCm39) C85R probably damaging Het
Gnai2 A C 9: 107,496,968 (GRCm39) L131R Het
Gprin1 A G 13: 54,885,764 (GRCm39) W837R probably damaging Het
Grm3 C T 5: 9,562,311 (GRCm39) C513Y probably damaging Het
H60c T A 10: 3,210,265 (GRCm39) I95F possibly damaging Het
Hecw1 A G 13: 14,531,743 (GRCm39) V177A possibly damaging Het
Herc6 T A 6: 57,624,134 (GRCm39) C635S probably benign Het
Itga4 A T 2: 79,112,125 (GRCm39) M347L probably benign Het
Kif20b A G 19: 34,914,752 (GRCm39) H436R probably benign Het
Klrg2 G T 6: 38,613,430 (GRCm39) P191Q possibly damaging Het
Krt5 A G 15: 101,618,742 (GRCm39) Y340H probably damaging Het
Map9 T A 3: 82,270,668 (GRCm39) H77Q possibly damaging Het
Mfsd13a A G 19: 46,356,557 (GRCm39) T221A probably benign Het
Myo10 C G 15: 25,799,572 (GRCm39) H1378Q probably damaging Het
Nkx6-1 T C 5: 101,807,513 (GRCm39) T290A possibly damaging Het
Nlgn3 T C X: 100,352,390 (GRCm39) V179A probably damaging Het
Nr1d2 A T 14: 18,216,661 (GRCm38) M169K probably damaging Het
Or10ak8 C T 4: 118,774,635 (GRCm39) V10I probably benign Het
Or11g1 A G 14: 50,651,420 (GRCm39) M140V possibly damaging Het
Or13c7c A G 4: 43,836,193 (GRCm39) V99A probably benign Het
Or6c69b A T 10: 129,626,562 (GRCm39) F299I possibly damaging Het
Or8b41 A G 9: 38,054,433 (GRCm39) M1V probably null Het
Pdia6 T A 12: 17,329,662 (GRCm39) I266K probably damaging Het
Phactr4 T C 4: 132,091,105 (GRCm39) probably null Het
Polr1b T A 2: 128,967,571 (GRCm39) L988Q probably damaging Het
Por A T 5: 135,763,112 (GRCm39) M541L probably benign Het
Ppid T C 3: 79,498,689 (GRCm39) probably benign Het
Prp2 A T 6: 132,577,322 (GRCm39) Q203L unknown Het
Psme4 T G 11: 30,759,896 (GRCm39) F340V probably damaging Het
Ptges2 T C 2: 32,290,077 (GRCm39) S164P probably damaging Het
Rab18 G A 18: 6,788,635 (GRCm39) G201S probably damaging Het
Rbm19 A G 5: 120,265,132 (GRCm39) E391G probably damaging Het
Rcbtb2 T G 14: 73,404,305 (GRCm39) V259G probably damaging Het
Rpn1 C A 6: 88,080,359 (GRCm39) Q553K possibly damaging Het
Sash1 A G 10: 8,609,459 (GRCm39) S697P probably damaging Het
Sdad1 T G 5: 92,437,645 (GRCm39) H603P probably damaging Het
Serpini1 T C 3: 75,520,544 (GRCm39) L47P probably damaging Het
Sorbs2 T A 8: 46,248,686 (GRCm39) S646T possibly damaging Het
Spdye4a T A 5: 143,210,754 (GRCm39) E105D probably benign Het
Srsf12 G A 4: 33,231,181 (GRCm39) C230Y possibly damaging Het
Stard9 A T 2: 120,531,595 (GRCm39) R2617S probably benign Het
Tas2r118 G T 6: 23,969,344 (GRCm39) T239K probably damaging Het
Tlr1 A G 5: 65,084,094 (GRCm39) L161P probably benign Het
Ttc21a T G 9: 119,772,977 (GRCm39) V218G possibly damaging Het
Ttc6 T C 12: 57,784,492 (GRCm39) S1854P probably benign Het
Unc93a A G 17: 13,341,852 (GRCm39) L93P probably damaging Het
Vcan A T 13: 89,839,217 (GRCm39) I2109N probably benign Het
Vmn1r225 A T 17: 20,723,419 (GRCm39) S287C probably damaging Het
Vmn1r43 A G 6: 89,847,321 (GRCm39) F55S probably damaging Het
Zfp772 T C 7: 7,208,518 (GRCm39) T109A possibly damaging Het
Zfp87 A G 13: 74,520,599 (GRCm39) Y160H probably damaging Het
Other mutations in Notch1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6251:Notch1 UTSW 2 26,364,182 (GRCm39) missense possibly damaging 0.64
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
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'- GTTGACACCCAGCTTGTGAC -3'
(R):5'- ACTGTGAGACCAACATCAATGAG -3'

Sequencing Primer
(F):5'- AGCTTGTGACATCCAGCC -3'
(R):5'- TCAATGAGTGCCACAGCC -3'
Posted On 2021-04-30