Incidental Mutation 'IGL01634:Notch4'
ID 93534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Notch4
Ensembl Gene ENSMUSG00000015468
Gene Name notch 4
Synonyms Int3, Int-3, N4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01634
Quality Score
Status
Chromosome 17
Chromosomal Location 34783242-34807477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34791562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 574 (F574L)
Ref Sequence ENSEMBL: ENSMUSP00000133574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015612] [ENSMUST00000173389]
AlphaFold P31695
Predicted Effect possibly damaging
Transcript: ENSMUST00000015612
AA Change: F570L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000015612
Gene: ENSMUSG00000015468
AA Change: F570L

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 noncoding transcript
Transcript: ENSMUST00000172623
Predicted Effect probably damaging
Transcript: ENSMUST00000173389
AA Change: F574L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133574
Gene: ENSMUSG00000015468
AA Change: F574L

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
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 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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,633,016 (GRCm39) noncoding transcript Het
4933421I07Rik C T 7: 42,097,123 (GRCm39) D63N probably benign Het
Alg9 C A 9: 50,686,677 (GRCm39) probably null Het
Anln T C 9: 22,271,771 (GRCm39) T695A probably benign Het
Aox4 G T 1: 58,261,089 (GRCm39) D141Y possibly damaging Het
Arhgap21 C A 2: 20,919,455 (GRCm39) Q84H probably benign Het
Arnt G A 3: 95,377,709 (GRCm39) probably benign Het
Atp8a2 T A 14: 60,235,511 (GRCm39) Y677F probably benign Het
Car6 C T 4: 150,282,610 (GRCm39) V12M probably benign Het
Cd209d A T 8: 3,927,974 (GRCm39) probably null Het
Ctnna1 T A 18: 35,356,501 (GRCm39) V390E probably damaging Het
Cypt4 T A 9: 24,536,952 (GRCm39) N147K possibly damaging Het
Dnah10 C A 5: 124,898,405 (GRCm39) A3729E probably damaging Het
Dusp8 A G 7: 141,638,160 (GRCm39) V156A probably benign Het
Ecm1 G A 3: 95,642,211 (GRCm39) P458L probably damaging Het
Fat3 T G 9: 15,909,654 (GRCm39) Y2116S probably damaging Het
Fscn3 T A 6: 28,430,537 (GRCm39) Y236N probably damaging Het
Gaa G A 11: 119,164,902 (GRCm39) S265N possibly damaging Het
Gas7 T C 11: 67,565,057 (GRCm39) probably benign Het
Gbp8 T C 5: 105,166,438 (GRCm39) K297R probably damaging Het
Gm1818 G A 12: 48,602,992 (GRCm39) noncoding transcript Het
Gm5114 G T 7: 39,058,071 (GRCm39) T516K probably benign Het
Hectd1 A G 12: 51,850,562 (GRCm39) S165P probably damaging Het
Hoxb4 G T 11: 96,209,726 (GRCm39) R44L probably damaging Het
Ivd G A 2: 118,706,863 (GRCm39) R285H probably damaging Het
Krtap20-2 T C 16: 89,002,977 (GRCm39) F59S unknown Het
Megf8 G A 7: 25,058,206 (GRCm39) probably benign Het
Mgat4d A T 8: 84,094,745 (GRCm39) M261L possibly damaging Het
Mlc1 A T 15: 88,858,921 (GRCm39) probably benign Het
Mmp20 T A 9: 7,635,149 (GRCm39) Y43* probably null Het
Morc3 G A 16: 93,670,125 (GRCm39) V767I probably benign Het
Myo15a A G 11: 60,386,298 (GRCm39) T1808A probably damaging Het
Npas3 G A 12: 53,993,946 (GRCm39) V164M probably damaging Het
Nptx1 A G 11: 119,435,498 (GRCm39) Y273H probably damaging Het
Oaf T C 9: 43,135,301 (GRCm39) N159S probably damaging Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or4c111 T A 2: 88,843,788 (GRCm39) I207F probably damaging Het
Or5ak24 A T 2: 85,260,783 (GRCm39) L130H probably damaging Het
Pgm2 T C 5: 64,258,317 (GRCm39) F101L probably benign Het
Pkd1l3 A C 8: 110,394,157 (GRCm39) probably null Het
Plcd1 C T 9: 118,902,857 (GRCm39) R527H probably damaging Het
Rexo2 C T 9: 48,380,215 (GRCm39) E206K probably damaging Het
Ropn1 C A 16: 34,487,148 (GRCm39) T28N possibly damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpgrip1l C A 8: 91,979,171 (GRCm39) S998I probably benign Het
Rpgrip1l T A 8: 91,979,172 (GRCm39) S998C probably benign Het
Scap T C 9: 110,207,857 (GRCm39) probably null Het
Sec23b T C 2: 144,401,150 (GRCm39) Y4H probably damaging Het
Sfrp4 C A 13: 19,807,800 (GRCm39) D66E possibly damaging Het
Slc25a36 T C 9: 96,962,534 (GRCm39) T13A probably benign Het
Synpr A T 14: 13,608,576 (GRCm38) I119F possibly damaging Het
Tamm41 A C 6: 114,993,059 (GRCm39) H109Q probably benign Het
Tet1 A T 10: 62,714,367 (GRCm39) I476K possibly damaging Het
Tg A T 15: 66,601,415 (GRCm39) I142F probably benign Het
Thada A T 17: 84,700,786 (GRCm39) probably null Het
Triobp T C 15: 78,877,568 (GRCm39) L1654P probably damaging Het
Trpm7 A G 2: 126,668,738 (GRCm39) V726A probably damaging Het
Txndc15 T G 13: 55,869,438 (GRCm39) V197G probably damaging Het
Ubr3 A T 2: 69,803,916 (GRCm39) T1169S probably benign Het
Uhmk1 C T 1: 170,034,682 (GRCm39) probably null Het
Vmn2r16 T A 5: 109,488,177 (GRCm39) M350K probably benign Het
Vmn2r77 G A 7: 86,460,857 (GRCm39) V728I probably benign Het
Wipf1 G A 2: 73,278,225 (GRCm39) P7S unknown Het
Zswim3 A G 2: 164,661,922 (GRCm39) D134G probably 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
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
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
Posted On 2013-12-09