Incidental Mutation 'R7182:Notch4'
ID 559082
Institutional Source Beutler Lab
Gene Symbol Notch4
Ensembl Gene ENSMUSG00000015468
Gene Name notch 4
Synonyms Int3, Int-3, N4
MMRRC Submission 045234-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7182 (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 A at 34802473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1298 (V1298E)
Ref Sequence ENSEMBL: ENSMUSP00000015612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015612] [ENSMUST00000173389]
AlphaFold P31695
Predicted Effect probably damaging
Transcript: ENSMUST00000015612
AA Change: V1298E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468
AA Change: V1298E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,578 (GRCm39) V323A unknown Het
AC117241.1 A G 17: 7,620,087 (GRCm39) V158A unknown Het
Acadm A G 3: 153,647,518 (GRCm39) probably null Het
Adcy10 T G 1: 165,371,039 (GRCm39) probably null Het
Aldh6a1 C T 12: 84,488,605 (GRCm39) A94T probably benign Het
Ano2 T A 6: 125,767,256 (GRCm39) L229Q probably damaging Het
Cacna1h C T 17: 25,596,629 (GRCm39) R1828H probably damaging Het
Ccdc33 A T 9: 57,941,456 (GRCm39) probably null Het
Cep112 A C 11: 108,573,670 (GRCm39) D6A probably benign Het
Chd9 T C 8: 91,733,250 (GRCm39) F1373S unknown Het
Cog5 T C 12: 31,735,707 (GRCm39) L158P probably damaging Het
Col6a3 G A 1: 90,731,400 (GRCm39) Q1618* probably null Het
Dlg5 A G 14: 24,294,924 (GRCm39) V3A Het
Dnah7a T A 1: 53,659,620 (GRCm39) probably null Het
Dpp10 A T 1: 123,268,880 (GRCm39) H716Q probably benign Het
Epor A G 9: 21,874,625 (GRCm39) F35L probably benign Het
Ergic1 A T 17: 26,873,856 (GRCm39) Y92F Het
Fam98a G A 17: 75,846,013 (GRCm39) Q273* probably null Het
Fhdc1 G A 3: 84,356,157 (GRCm39) T429I probably damaging Het
Fmnl2 T A 2: 52,997,453 (GRCm39) L468Q unknown Het
Fmnl3 C T 15: 99,219,663 (GRCm39) R695Q probably damaging Het
Gabrg2 T C 11: 41,811,333 (GRCm39) M271V probably damaging Het
Garin4 C T 1: 190,895,548 (GRCm39) R365H probably damaging Het
Gk5 G T 9: 96,001,579 (GRCm39) V26L possibly damaging Het
Gm14412 A C 2: 177,007,408 (GRCm39) N162K probably benign Het
Gm3604 T C 13: 62,519,689 (GRCm39) D22G probably damaging Het
Gm5565 G T 5: 146,094,865 (GRCm39) H294N probably benign Het
Hsf2 T A 10: 57,381,272 (GRCm39) D287E possibly damaging Het
Ift70b A T 2: 75,768,293 (GRCm39) Y153* probably null Het
Impdh2 G A 9: 108,440,407 (GRCm39) R231H possibly damaging Het
Irak3 T C 10: 120,002,416 (GRCm39) H234R probably damaging Het
Lrba GTTCCCTTC GTTC 3: 86,648,765 (GRCm39) probably null Het
Lrch3 T A 16: 32,814,149 (GRCm39) D551E probably benign Het
Manba A T 3: 135,273,274 (GRCm39) N736I probably benign Het
Map2 A G 1: 66,451,812 (GRCm39) D234G possibly damaging Het
Mdk C A 2: 91,761,197 (GRCm39) K121N unknown Het
Mfn1 T A 3: 32,618,369 (GRCm39) L526Q probably damaging Het
Mfsd2b A G 12: 4,916,157 (GRCm39) probably null Het
Mnat1 G T 12: 73,277,452 (GRCm39) E233* probably null Het
Mtmr4 T C 11: 87,495,431 (GRCm39) probably null Het
Mtrf1 A G 14: 79,660,904 (GRCm39) E432G possibly damaging Het
Muc5b C T 7: 141,396,382 (GRCm39) R165C unknown Het
Naip6 T A 13: 100,452,657 (GRCm39) I135F probably benign Het
Nod2 A G 8: 89,390,460 (GRCm39) T256A probably benign Het
Nudc G T 4: 133,261,776 (GRCm39) D169E possibly damaging Het
Obscn A T 11: 58,925,927 (GRCm39) I5602N probably damaging Het
Or5b114-ps1 G A 19: 13,353,208 (GRCm39) G294E unknown Het
Osbpl10 G A 9: 114,896,319 (GRCm39) D18N probably damaging Het
Pigk G A 3: 152,428,188 (GRCm39) V72I possibly damaging Het
Prl8a6 C T 13: 27,621,153 (GRCm39) E26K probably damaging Het
Prpf8 A G 11: 75,381,553 (GRCm39) Y318C possibly damaging Het
Rab13 A G 3: 90,132,070 (GRCm39) D159G possibly damaging Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Ryr2 T C 13: 11,774,643 (GRCm39) H1171R probably benign Het
Scn4a T A 11: 106,221,134 (GRCm39) I842F probably benign Het
Scnm1 A T 3: 95,041,165 (GRCm39) N14K possibly damaging Het
Serinc1 A T 10: 57,400,457 (GRCm39) I137N probably benign Het
Slc30a3 T C 5: 31,244,169 (GRCm39) Q371R probably benign Het
Slc30a3 A C 5: 31,247,014 (GRCm39) M103R probably damaging Het
Slco1a1 A T 6: 141,857,565 (GRCm39) C589S probably damaging Het
Slco1b2 A G 6: 141,602,656 (GRCm39) Y203C probably damaging Het
Spty2d1 A T 7: 46,648,271 (GRCm39) D219E probably benign Het
Svep1 A T 4: 58,043,991 (GRCm39) S3552T probably benign Het
Tmem62 A G 2: 120,835,224 (GRCm39) I516M probably benign Het
Trim61 A T 8: 65,466,266 (GRCm39) S332T probably damaging Het
Trmt10b A C 4: 45,308,520 (GRCm39) T227P probably benign Het
Trpc3 T C 3: 36,709,258 (GRCm39) Q406R probably benign Het
Ush2a A T 1: 188,485,740 (GRCm39) Y2950F probably benign Het
Usp32 C T 11: 84,930,996 (GRCm39) G478D probably benign Het
Wdfy3 A G 5: 102,091,758 (GRCm39) L527P possibly damaging Het
Wdr73 A G 7: 80,543,426 (GRCm39) V163A possibly damaging 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
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'- GGAGTGGCCGTCATTCTCTATG -3'
(R):5'- TCTTTCCCATGAAGAGGAATCCC -3'

Sequencing Primer
(F):5'- CCGTCATTCTCTATGAAGAAGGGTC -3'
(R):5'- TGAAGAGGAATCCCTAGCTCC -3'
Posted On 2019-06-26