Incidental Mutation 'IGL01410:Heg1'
ID79973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heg1
Ensembl Gene ENSMUSG00000075254
Gene Nameheart development protein with EGF-like domains 1
Synonyms5530401I02Rik, 9530025L16Rik, LOC268884, 4632417D23Rik
Accession Numbers

Genbank: NM_175256.5

Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL01410
Quality Score
Status
Chromosome16
Chromosomal Location33684370-33771576 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 33725566 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 460 (T460I)
Ref Sequence ENSEMBL: ENSMUSP00000155944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126532] [ENSMUST00000152782] [ENSMUST00000232568]
Predicted Effect probably benign
Transcript: ENSMUST00000126532
SMART Domains Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 53 66 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
low complexity region 175 190 N/A INTRINSIC
low complexity region 265 282 N/A INTRINSIC
low complexity region 471 480 N/A INTRINSIC
low complexity region 486 502 N/A INTRINSIC
low complexity region 556 575 N/A INTRINSIC
low complexity region 637 682 N/A INTRINSIC
low complexity region 868 888 N/A INTRINSIC
EGF 944 979 4e-5 SMART
EGF_CA 981 1019 1.01e-10 SMART
EGF_like 1139 1187 6.81e1 SMART
transmembrane domain 1204 1226 N/A INTRINSIC
PDB:4HDQ|C 1312 1337 2e-10 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000152782
AA Change: T229I

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: T229I

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
low complexity region 53 66 N/A INTRINSIC
low complexity region 68 104 N/A INTRINSIC
low complexity region 170 183 N/A INTRINSIC
low complexity region 185 202 N/A INTRINSIC
low complexity region 301 320 N/A INTRINSIC
low complexity region 382 427 N/A INTRINSIC
low complexity region 613 633 N/A INTRINSIC
EGF 689 724 4e-5 SMART
EGF_CA 726 764 1.01e-10 SMART
EGF_like 884 932 6.81e1 SMART
transmembrane domain 949 971 N/A INTRINSIC
PDB:4HDQ|C 1057 1082 1e-10 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154863
Predicted Effect possibly damaging
Transcript: ENSMUST00000232568
AA Change: T460I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired integrity of the heart, blood vessels and lymphatic vessels, resulting in hemopericardium, lung hemorrhage, lymphangiectasis, and chylous ascites, as well as embryonic and postnatal lethality. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(3) Gene trapped(3)

Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,106,025 probably null Het
Aspm C T 1: 139,482,444 T1359I probably benign Het
Atp13a2 A G 4: 140,992,198 D26G probably benign Het
Atrnl1 G A 19: 58,131,104 A1343T probably damaging Het
Ccsap A C 8: 123,859,230 S61A probably damaging Het
Cdh1 A T 8: 106,657,853 M318L probably benign Het
Cfap69 G A 5: 5,646,979 P106S probably damaging Het
Cfp G A X: 20,929,724 T88I probably damaging Het
Chst1 A T 2: 92,614,130 I316F probably damaging Het
Col7a1 A T 9: 108,964,618 D1382V unknown Het
Cr2 T A 1: 195,163,234 M514L possibly damaging Het
Cubn G A 2: 13,465,908 H558Y probably benign Het
Cul9 A T 17: 46,528,646 M802K probably damaging Het
Dennd2d A T 3: 106,491,226 I169L probably damaging Het
Dnah11 T A 12: 118,047,256 K162* probably null Het
Dnah3 T A 7: 119,967,720 T2428S possibly damaging Het
Dock11 T A X: 36,037,643 H1284Q probably damaging Het
Flrt2 T A 12: 95,779,192 D101E probably damaging Het
Gabrr2 G A 4: 33,085,626 V349M probably damaging Het
Gli2 C A 1: 118,836,891 V1177L probably benign Het
Gm16506 A G 14: 43,724,173 Y206H probably benign Het
Gm1966 C T 7: 106,603,051 noncoding transcript Het
Gm5612 C T 9: 18,427,573 probably benign Het
Lgals9 T G 11: 78,973,151 D56A probably damaging Het
Lpgat1 A T 1: 191,776,432 probably null Het
Megf6 T A 4: 154,252,563 probably null Het
Megf8 G A 7: 25,359,871 M2265I probably benign Het
Memo1 G A 17: 74,241,981 R121* probably null Het
Morc1 T C 16: 48,612,314 V715A probably benign Het
Mycbp2 A T 14: 103,229,492 probably null Het
Ncapg2 T A 12: 116,424,650 V318D possibly damaging Het
Ndst1 T C 18: 60,700,445 Y498C probably damaging Het
Nod1 C T 6: 54,944,356 A326T probably damaging Het
Olfr1206 T A 2: 88,865,520 M305K probably benign Het
Olfr697 A G 7: 106,741,499 V145A probably benign Het
Peg3 T C 7: 6,707,625 S1533G probably benign Het
Pgc G T 17: 47,734,240 G361V probably damaging Het
Phka1 C T X: 102,586,106 R477H probably damaging Het
Plagl2 C T 2: 153,232,654 R109Q probably damaging Het
Prr36 T A 8: 4,216,230 I107F probably benign Het
Ptpdc1 T A 13: 48,586,604 R450S probably damaging Het
Ptprb A T 10: 116,302,274 D361V possibly damaging Het
Rbm44 A G 1: 91,168,829 D970G probably benign Het
Scrn2 T G 11: 97,030,570 V52G probably benign Het
Sdk1 C T 5: 142,212,120 T2176I probably benign Het
Serpina1d T A 12: 103,763,734 E396D probably benign Het
Slc38a5 A C X: 8,279,831 Q465P probably benign Het
Slc38a5 G T X: 8,279,832 Q465H probably benign Het
Smarca1 T C X: 47,892,378 T48A possibly damaging Het
Trak2 A T 1: 58,923,607 I132N probably damaging Het
Trank1 T C 9: 111,365,259 S784P probably benign Het
Trank1 A G 9: 111,365,049 T714A probably benign Het
Trp53i13 G A 11: 77,508,257 probably benign Het
Trrap A C 5: 144,831,021 D2596A probably benign Het
Ttyh1 A T 7: 4,124,657 T19S probably damaging Het
Tyk2 C T 9: 21,109,364 V947M probably damaging Het
Ugt2b34 G A 5: 86,892,830 A411V possibly damaging Het
Virma T A 4: 11,518,929 Y725* probably null Het
Vmn1r192 A G 13: 22,187,909 L47P probably damaging Het
Vmn2r74 T C 7: 85,961,292 D64G possibly damaging Het
Other mutations in Heg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Heg1 APN 16 33710607 missense probably damaging 0.98
IGL01133:Heg1 APN 16 33727287 missense probably benign 0.01
IGL01561:Heg1 APN 16 33766668 missense probably benign 0.27
IGL02449:Heg1 APN 16 33738725 critical splice donor site probably null
IGL02523:Heg1 APN 16 33738622 missense probably damaging 1.00
IGL02794:Heg1 APN 16 33726622 missense probably damaging 0.99
IGL03240:Heg1 APN 16 33727413 missense probably benign 0.02
I2289:Heg1 UTSW 16 33763459 missense probably damaging 1.00
R0089:Heg1 UTSW 16 33763615 missense probably damaging 1.00
R0116:Heg1 UTSW 16 33735658 splice site probably benign
R0514:Heg1 UTSW 16 33726756 missense possibly damaging 0.86
R0589:Heg1 UTSW 16 33731707 missense probably damaging 1.00
R0942:Heg1 UTSW 16 33760803 missense probably damaging 1.00
R1084:Heg1 UTSW 16 33706997 missense probably benign 0.26
R1109:Heg1 UTSW 16 33763591 missense probably damaging 1.00
R1375:Heg1 UTSW 16 33726876 missense possibly damaging 0.75
R1375:Heg1 UTSW 16 33727309 missense possibly damaging 0.60
R1550:Heg1 UTSW 16 33735553 missense probably damaging 1.00
R1720:Heg1 UTSW 16 33707179 missense probably benign 0.44
R1739:Heg1 UTSW 16 33738583 missense possibly damaging 0.94
R2068:Heg1 UTSW 16 33727590 missense probably benign 0.14
R2397:Heg1 UTSW 16 33742479 missense probably damaging 0.99
R4353:Heg1 UTSW 16 33710477 missense probably benign 0.41
R4419:Heg1 UTSW 16 33727435 missense probably benign 0.23
R4420:Heg1 UTSW 16 33727435 missense probably benign 0.23
R4779:Heg1 UTSW 16 33719772 missense probably benign 0.41
R5066:Heg1 UTSW 16 33738671 missense probably benign 0.41
R5227:Heg1 UTSW 16 33763591 missense probably damaging 1.00
R5494:Heg1 UTSW 16 33725434 missense probably benign 0.44
R5645:Heg1 UTSW 16 33706963 missense probably benign
R5708:Heg1 UTSW 16 33742404 missense probably damaging 0.99
R5934:Heg1 UTSW 16 33726919 missense probably damaging 1.00
R6074:Heg1 UTSW 16 33727203 missense possibly damaging 0.49
R6374:Heg1 UTSW 16 33727129 missense possibly damaging 0.86
R6398:Heg1 UTSW 16 33766775 missense probably damaging 0.99
R6774:Heg1 UTSW 16 33738268 missense probably damaging 1.00
R6843:Heg1 UTSW 16 33719526 missense probably benign 0.41
R7091:Heg1 UTSW 16 33726720 missense probably benign 0.01
R7183:Heg1 UTSW 16 33738550 splice site probably null
R7186:Heg1 UTSW 16 33731664 missense probably damaging 1.00
R7294:Heg1 UTSW 16 33726489 missense probably damaging 0.99
R7304:Heg1 UTSW 16 33760790 missense possibly damaging 0.52
R7405:Heg1 UTSW 16 33763449 missense possibly damaging 0.66
R7614:Heg1 UTSW 16 33727363 missense probably benign
R7638:Heg1 UTSW 16 33727497 missense probably damaging 1.00
R7880:Heg1 UTSW 16 33719509 missense possibly damaging 0.93
R7963:Heg1 UTSW 16 33719509 missense possibly damaging 0.93
R8023:Heg1 UTSW 16 33730525 missense possibly damaging 0.61
X0066:Heg1 UTSW 16 33727416 missense probably benign 0.16
Z1177:Heg1 UTSW 16 33720687 missense probably damaging 0.99
Posted On2013-11-05