Incidental Mutation 'R8885:Notch4'
ID 677287
Institutional Source Beutler Lab
Gene Symbol Notch4
Ensembl Gene ENSMUSG00000015468
Gene Name notch 4
Synonyms Int3, Int-3, N4
MMRRC Submission 068751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8885 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34783242-34807477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34803470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1463 (V1463A)
Ref Sequence ENSEMBL: ENSMUSP00000015612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015612] [ENSMUST00000173389]
AlphaFold P31695
Predicted Effect possibly damaging
Transcript: ENSMUST00000015612
AA Change: V1463A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468
AA Change: V1463A

DomainStartEndE-ValueType
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: ENSMUST00000151654
Predicted Effect probably benign
Transcript: ENSMUST00000151867
Predicted Effect probably benign
Transcript: ENSMUST00000173389
SMART Domains Protein: ENSMUSP00000133574
Gene: ENSMUSG00000015468

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.1654 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (104/104)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,471,525 (GRCm39) S977C possibly damaging Het
Abca8a T A 11: 109,960,305 (GRCm39) D646V probably damaging Het
Adss2 T A 1: 177,597,526 (GRCm39) Y378F probably damaging Het
Akap6 C T 12: 53,188,319 (GRCm39) A1911V probably benign Het
Alg2 T C 4: 47,474,159 (GRCm39) Y43C probably benign Het
Alk A C 17: 72,202,758 (GRCm39) V1159G probably damaging Het
Alx3 A T 3: 107,508,010 (GRCm39) Q173L probably damaging Het
Aqp9 A G 9: 71,069,593 (GRCm39) probably benign Het
Atf7ip C A 6: 136,564,141 (GRCm39) L787I probably benign Het
Bbs9 A T 9: 22,590,234 (GRCm39) E657D possibly damaging Het
Bean1 G A 8: 104,908,752 (GRCm39) probably null Het
Cactin G T 10: 81,157,082 (GRCm39) R13L unknown Het
Ccdc178 T C 18: 22,200,721 (GRCm39) E412G probably damaging Het
Ccdc30 A G 4: 119,181,759 (GRCm39) I583T probably damaging Het
Ccl8 T C 11: 82,006,933 (GRCm39) Y49H probably damaging Het
Clptm1 T A 7: 19,372,932 (GRCm39) K199N probably damaging Het
Cnbp G A 6: 87,822,646 (GRCm39) S39L probably benign Het
Cnih3 T A 1: 181,237,437 (GRCm39) probably benign Het
Cnksr3 A T 10: 7,090,201 (GRCm39) probably benign Het
Cntn1 A G 15: 92,159,380 (GRCm39) I512V probably benign Het
Col20a1 A G 2: 180,640,296 (GRCm39) probably benign Het
Col28a1 A T 6: 8,127,360 (GRCm39) probably benign Het
Col6a2 A T 10: 76,450,741 (GRCm39) Y63* probably null Het
Copa T G 1: 171,925,312 (GRCm39) F190V probably damaging Het
Crisp4 A C 1: 18,207,148 (GRCm39) probably benign Het
Cxcl2 C T 5: 91,052,085 (GRCm39) Q64* probably null Het
Cxcr5 T C 9: 44,425,549 (GRCm39) D36G probably benign Het
Cyp20a1 T A 1: 60,411,765 (GRCm39) V271E possibly damaging Het
D430041D05Rik T C 2: 104,071,538 (GRCm39) Y570C probably damaging Het
Ddi1 T G 9: 6,266,198 (GRCm39) D57A probably benign Het
Ddx11 T A 17: 66,450,460 (GRCm39) S492T probably benign Het
Dhx34 C T 7: 15,950,376 (GRCm39) R264H probably damaging Het
Dnah3 T A 7: 119,561,375 (GRCm39) I328F Het
Dnah5 C T 15: 28,327,886 (GRCm39) R2087C probably damaging Het
Dnah8 C G 17: 30,927,286 (GRCm39) S1314W possibly damaging Het
Dock2 T C 11: 34,260,396 (GRCm39) N982D probably benign Het
Dync1h1 A G 12: 110,583,172 (GRCm39) D423G probably damaging Het
Ect2l A C 10: 18,048,583 (GRCm39) L213V probably damaging Het
Fam210a T C 18: 68,409,215 (GRCm39) I32V probably benign Het
Fancg A G 4: 43,007,266 (GRCm39) probably null Het
Fastkd5 T C 2: 130,457,111 (GRCm39) E493G probably benign Het
Fbxo38 T C 18: 62,659,272 (GRCm39) M342V probably damaging Het
Flnc A C 6: 29,455,410 (GRCm39) K2020Q probably damaging Het
Flt4 A G 11: 49,527,160 (GRCm39) probably benign Het
Frmd4b G T 6: 97,389,480 (GRCm39) P129T probably benign Het
Galnt13 C A 2: 54,770,138 (GRCm39) A310E probably benign Het
Gm4884 T A 7: 40,694,108 (GRCm39) Y692* probably null Het
Gm6309 T A 5: 146,105,103 (GRCm39) D270V probably damaging Het
Grip1 G T 10: 119,290,192 (GRCm39) probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kdf1 G T 4: 133,255,505 (GRCm39) C74F probably damaging Het
Kdm1b T A 13: 47,207,184 (GRCm39) C169* probably null Het
Kmt2c G T 5: 25,520,077 (GRCm39) T2011K probably benign Het
Lama1 G A 17: 68,080,779 (GRCm39) G1269E Het
Lamb3 C T 1: 193,017,182 (GRCm39) A791V probably benign Het
Leng9 G T 7: 4,151,774 (GRCm39) R301S possibly damaging Het
Lgr6 C A 1: 134,915,342 (GRCm39) V746L probably benign Het
Lrp5 T A 19: 3,702,170 (GRCm39) S216C probably damaging Het
Ltn1 T C 16: 87,178,433 (GRCm39) T1599A probably damaging Het
Map2k1 G T 9: 64,094,606 (GRCm39) N345K probably damaging Het
Map4k1 T A 7: 28,688,862 (GRCm39) D304E probably benign Het
Mcpt1 C T 14: 56,256,522 (GRCm39) T86I probably damaging Het
Mcpt9 T C 14: 56,265,153 (GRCm39) K116R probably benign Het
Morc2a G T 11: 3,628,584 (GRCm39) A346S probably damaging Het
Mybpc3 A T 2: 90,954,237 (GRCm39) Q370L probably benign Het
Nars2 T C 7: 96,652,095 (GRCm39) S229P probably damaging Het
Ndufa10 A T 1: 92,397,693 (GRCm39) Y118N probably damaging Het
Nek11 A T 9: 105,172,571 (GRCm39) probably null Het
Nrcam T C 12: 44,610,908 (GRCm39) I536T probably benign Het
Or6c202 T C 10: 128,996,334 (GRCm39) Y173C probably benign Het
Pbld1 A T 10: 62,912,226 (GRCm39) T285S probably benign Het
Pcdhgb8 A T 18: 37,896,177 (GRCm39) T416S possibly damaging Het
Plekhg6 T C 6: 125,351,523 (GRCm39) D242G probably damaging Het
Pnmt T A 11: 98,278,580 (GRCm39) V182D probably benign Het
Ppp1r13b G T 12: 111,799,871 (GRCm39) N758K probably damaging Het
Prex2 A G 1: 11,240,799 (GRCm39) probably benign Het
Prss3 A T 6: 41,354,512 (GRCm39) L7Q probably damaging Het
Prss43 T A 9: 110,660,046 (GRCm39) L370Q probably damaging Het
Rac1 A T 5: 143,493,885 (GRCm39) V104E probably damaging Het
Rgs9 T C 11: 109,166,449 (GRCm39) Y107C probably damaging Het
Rnase13 C T 14: 52,159,940 (GRCm39) W66* probably null Het
Rrp1b G A 17: 32,270,688 (GRCm39) V216I possibly damaging Het
Serinc1 A G 10: 57,395,864 (GRCm39) S309P probably benign Het
Serpine3 T A 14: 62,902,587 (GRCm39) L66Q probably damaging Het
Smc5 C T 19: 23,191,234 (GRCm39) V924M probably damaging Het
Spmip4 A T 6: 50,551,028 (GRCm39) Y474N possibly damaging Het
Srgap1 A T 10: 121,761,545 (GRCm39) probably benign Het
Stab1 T C 14: 30,883,771 (GRCm39) E262G possibly damaging Het
Ston2 A G 12: 91,606,498 (GRCm39) *896R probably null Het
Syt6 A G 3: 103,532,941 (GRCm39) M442V probably benign Het
Tap1 T C 17: 34,408,536 (GRCm39) probably null Het
Tbx3 A C 5: 119,818,624 (GRCm39) S420R probably benign Het
Tespa1 A T 10: 130,198,316 (GRCm39) Q446L probably benign Het
Tifab T C 13: 56,324,108 (GRCm39) M112V probably benign Het
Trpv5 A T 6: 41,630,192 (GRCm39) S633T possibly damaging Het
Ttn T C 2: 76,684,236 (GRCm39) K838R unknown Het
Ttn A T 2: 76,744,810 (GRCm39) V5413E probably damaging Het
Tub C A 7: 108,628,793 (GRCm39) N415K Het
Vmn2r3 T C 3: 64,182,383 (GRCm39) M439V probably benign Het
Vps13c A G 9: 67,850,736 (GRCm39) D2231G probably benign Het
Wbp1 C T 6: 83,096,913 (GRCm39) C118Y unknown Het
Zdhhc20 C T 14: 58,127,671 (GRCm39) probably benign Het
Zfp217 T A 2: 169,956,391 (GRCm39) N869I probably benign Het
Zfp677 T C 17: 21,618,350 (GRCm39) I469T probably benign Het
Zmym2 T A 14: 57,185,329 (GRCm39) probably benign Het
Zzef1 T G 11: 72,687,402 (GRCm39) S94A probably benign Het
Other mutations in Notch4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4859:Notch4 UTSW 17 34,806,154 (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
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'- TGAGGCAGGCTACTCCACTAAC -3'
(R):5'- TTCCAGAAGCCTTCCGACTG -3'

Sequencing Primer
(F):5'- TAACCCGAGCTACTCCACTGG -3'
(R):5'- TCCACTTCTGCAGGAGTAGTGC -3'
Posted On 2021-08-02