Incidental Mutation 'R6161:Notch1'
ID 489855
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 044308-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6161 (G1)
Quality Score 135.008
Status Validated
Chromosome 2
Chromosomal Location 26347914-26393834 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26358743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 1363 (C1363S)
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 damaging
Transcript: ENSMUST00000028288
AA Change: C1363S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028288
Gene: ENSMUSG00000026923
AA Change: C1363S

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 noncoding transcript
Transcript: ENSMUST00000123873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129506
Predicted Effect probably benign
Transcript: ENSMUST00000132820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138034
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140082
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 100% (54/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,139,934 (GRCm39) K1533M probably damaging Het
Aldh1l2 C T 10: 83,356,202 (GRCm39) V63I probably benign Het
Atr A G 9: 95,747,372 (GRCm39) H218R probably benign Het
Atxn7l1 T A 12: 33,408,662 (GRCm39) S275T possibly damaging Het
Cacna1c T C 6: 119,034,263 (GRCm39) K88R probably damaging Het
Ccl7 T C 11: 81,937,412 (GRCm39) Y49H probably damaging Het
Cers5 A G 15: 99,636,544 (GRCm39) probably null Het
Chuk T C 19: 44,071,076 (GRCm39) E543G probably damaging Het
Dip2c T C 13: 9,697,043 (GRCm39) V1318A probably damaging Het
Ercc5 A G 1: 44,206,512 (GRCm39) H475R probably benign Het
Fat3 A G 9: 16,288,818 (GRCm39) L235P probably damaging Het
Fbn1 A T 2: 125,211,721 (GRCm39) C892* probably null Het
Fbxw8 T C 5: 118,230,740 (GRCm39) T354A possibly damaging Het
Fsip2 A C 2: 82,817,601 (GRCm39) T4445P possibly damaging Het
Gpld1 A T 13: 25,155,397 (GRCm39) Q344L probably benign Het
Hao1 A T 2: 134,347,545 (GRCm39) D253E probably benign Het
Hmcn2 A G 2: 31,246,266 (GRCm39) D745G probably benign Het
Kcnt1 A G 2: 25,793,397 (GRCm39) T658A probably benign Het
Klhl35 A G 7: 99,122,544 (GRCm39) probably benign Het
Lnx2 C T 5: 146,978,836 (GRCm39) probably null Het
Map3k5 T C 10: 19,876,321 (GRCm39) V160A probably damaging Het
Masp2 A T 4: 148,698,469 (GRCm39) I517F possibly damaging Het
Mc4r A T 18: 66,992,251 (GRCm39) Y287* probably null Het
Mthfr A G 4: 148,126,211 (GRCm39) D94G probably benign Het
Muc16 A G 9: 18,559,114 (GRCm39) I2393T unknown Het
Mybbp1a G T 11: 72,336,838 (GRCm39) V557L probably damaging Het
Mycbp2 A T 14: 103,536,183 (GRCm39) W256R probably damaging Het
Nacad G A 11: 6,550,902 (GRCm39) S763L probably benign Het
Nebl A G 2: 17,735,641 (GRCm39) V11A probably benign Het
Nphp3 A G 9: 103,909,105 (GRCm39) N772D probably benign Het
Nqo2 G A 13: 34,163,634 (GRCm39) V98M probably damaging Het
Pak4 A G 7: 28,264,692 (GRCm39) I70T possibly damaging Het
Pbx2 A G 17: 34,812,574 (GRCm39) K2E probably damaging Het
Pikfyve A G 1: 65,255,202 (GRCm39) T352A probably benign Het
Polr1g G A 7: 19,091,558 (GRCm39) T183I possibly damaging Het
Pop1 T C 15: 34,526,456 (GRCm39) Y684H probably damaging Het
Rpa1 A G 11: 75,205,721 (GRCm39) V212A probably damaging Het
Rpap2 A G 5: 107,768,536 (GRCm39) E458G probably damaging Het
Sin3a T C 9: 57,002,708 (GRCm39) V200A possibly damaging Het
Sla T C 15: 66,654,447 (GRCm39) T280A probably null Het
Slc22a26 A T 19: 7,763,812 (GRCm39) I406K possibly damaging Het
Slc24a1 T C 9: 64,844,545 (GRCm39) N606S unknown Het
Slc39a10 G A 1: 46,866,567 (GRCm39) T443M probably damaging Het
Smg1 A T 7: 117,762,553 (GRCm39) probably benign Het
Sra1 G A 18: 36,803,336 (GRCm39) A9V probably damaging Het
Stard4 A G 18: 33,342,109 (GRCm39) V47A probably damaging Het
Stat4 A T 1: 52,113,836 (GRCm39) D182V possibly damaging Het
Syt1 A G 10: 108,467,668 (GRCm39) F210L probably damaging Het
Ube2q1 T A 3: 89,688,667 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,612 (GRCm39) C140Y possibly damaging Het
Wnt8a T C 18: 34,678,599 (GRCm39) F138L possibly damaging Het
Zfp623 T A 15: 75,820,470 (GRCm39) D475E probably benign Het
Zfp646 C T 7: 127,477,897 (GRCm39) R25W 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
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
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'- TGAATTTGGCAGGGCATAGAC -3'
(R):5'- GCAACCCTGACCATCCTATG -3'

Sequencing Primer
(F):5'- CAGCGGTAGAAAGGGTTCTC -3'
(R):5'- CCATCCTATGGTGAGATGTTTCAAG -3'
Posted On 2017-10-10