Incidental Mutation 'R7405:Heg1'
ID 574541
Institutional Source Beutler Lab
Gene Symbol Heg1
Ensembl Gene ENSMUSG00000075254
Gene Name heart development protein with EGF-like domains 1
Synonyms 9530025L16Rik, 4632417D23Rik, LOC268884, 5530401I02Rik
MMRRC Submission 045376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 33504754-33591946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33583819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 34 (K34E)
Ref Sequence ENSEMBL: ENSMUSP00000155963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126532] [ENSMUST00000128105] [ENSMUST00000152782] [ENSMUST00000232568]
AlphaFold E9Q7X6
Predicted Effect probably damaging
Transcript: ENSMUST00000126532
AA Change: K1233E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: K1233E

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: ENSMUST00000128105
AA Change: K34E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000152782
AA Change: K978E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: K978E

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 probably damaging
Transcript: ENSMUST00000232568
AA Change: K1209E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown Het
Other mutations in Heg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Heg1 APN 16 33,530,977 (GRCm39) missense probably damaging 0.98
IGL01133:Heg1 APN 16 33,547,657 (GRCm39) missense probably benign 0.01
IGL01410:Heg1 APN 16 33,545,936 (GRCm39) missense possibly damaging 0.95
IGL01561:Heg1 APN 16 33,587,038 (GRCm39) missense probably benign 0.27
IGL02449:Heg1 APN 16 33,559,095 (GRCm39) critical splice donor site probably null
IGL02523:Heg1 APN 16 33,558,992 (GRCm39) missense probably damaging 1.00
IGL02794:Heg1 APN 16 33,546,992 (GRCm39) missense probably damaging 0.99
IGL03240:Heg1 APN 16 33,547,783 (GRCm39) missense probably benign 0.02
cardiac UTSW 16 33,583,961 (GRCm39) missense probably damaging 1.00
dictator UTSW 16 33,527,367 (GRCm39) missense probably benign 0.26
hegemon UTSW 16 33,581,173 (GRCm39) missense probably damaging 1.00
oedema UTSW 16 33,558,961 (GRCm39) missense probably benign 0.03
wittgenstein UTSW 16 33,541,100 (GRCm39) nonsense probably null
I2289:Heg1 UTSW 16 33,583,829 (GRCm39) missense probably damaging 1.00
R0089:Heg1 UTSW 16 33,583,985 (GRCm39) missense probably damaging 1.00
R0116:Heg1 UTSW 16 33,556,028 (GRCm39) splice site probably benign
R0514:Heg1 UTSW 16 33,547,126 (GRCm39) missense possibly damaging 0.86
R0589:Heg1 UTSW 16 33,552,077 (GRCm39) missense probably damaging 1.00
R0942:Heg1 UTSW 16 33,581,173 (GRCm39) missense probably damaging 1.00
R1084:Heg1 UTSW 16 33,527,367 (GRCm39) missense probably benign 0.26
R1109:Heg1 UTSW 16 33,583,961 (GRCm39) missense probably damaging 1.00
R1375:Heg1 UTSW 16 33,547,679 (GRCm39) missense possibly damaging 0.60
R1375:Heg1 UTSW 16 33,547,246 (GRCm39) missense possibly damaging 0.75
R1550:Heg1 UTSW 16 33,555,923 (GRCm39) missense probably damaging 1.00
R1720:Heg1 UTSW 16 33,527,549 (GRCm39) missense probably benign 0.44
R1739:Heg1 UTSW 16 33,558,953 (GRCm39) missense possibly damaging 0.94
R2068:Heg1 UTSW 16 33,547,960 (GRCm39) missense probably benign 0.14
R2397:Heg1 UTSW 16 33,562,849 (GRCm39) missense probably damaging 0.99
R4353:Heg1 UTSW 16 33,530,847 (GRCm39) missense probably benign 0.41
R4419:Heg1 UTSW 16 33,547,805 (GRCm39) missense probably benign 0.23
R4420:Heg1 UTSW 16 33,547,805 (GRCm39) missense probably benign 0.23
R4779:Heg1 UTSW 16 33,540,142 (GRCm39) missense probably benign 0.41
R5066:Heg1 UTSW 16 33,559,041 (GRCm39) missense probably benign 0.41
R5227:Heg1 UTSW 16 33,583,961 (GRCm39) missense probably damaging 1.00
R5494:Heg1 UTSW 16 33,545,804 (GRCm39) missense probably benign 0.44
R5645:Heg1 UTSW 16 33,527,333 (GRCm39) missense probably benign
R5708:Heg1 UTSW 16 33,562,774 (GRCm39) missense probably damaging 0.99
R5934:Heg1 UTSW 16 33,547,289 (GRCm39) missense probably damaging 1.00
R6074:Heg1 UTSW 16 33,547,573 (GRCm39) missense possibly damaging 0.49
R6374:Heg1 UTSW 16 33,547,499 (GRCm39) missense possibly damaging 0.86
R6398:Heg1 UTSW 16 33,587,145 (GRCm39) missense probably damaging 0.99
R6774:Heg1 UTSW 16 33,558,638 (GRCm39) missense probably damaging 1.00
R6843:Heg1 UTSW 16 33,539,896 (GRCm39) missense probably benign 0.41
R7091:Heg1 UTSW 16 33,547,090 (GRCm39) missense probably benign 0.01
R7183:Heg1 UTSW 16 33,558,920 (GRCm39) splice site probably null
R7186:Heg1 UTSW 16 33,552,034 (GRCm39) missense probably damaging 1.00
R7294:Heg1 UTSW 16 33,546,859 (GRCm39) missense probably damaging 0.99
R7304:Heg1 UTSW 16 33,581,160 (GRCm39) missense possibly damaging 0.52
R7614:Heg1 UTSW 16 33,547,733 (GRCm39) missense probably benign
R7638:Heg1 UTSW 16 33,547,867 (GRCm39) missense probably damaging 1.00
R7880:Heg1 UTSW 16 33,539,879 (GRCm39) missense possibly damaging 0.93
R7942:Heg1 UTSW 16 33,571,570 (GRCm39) missense probably damaging 1.00
R7977:Heg1 UTSW 16 33,541,100 (GRCm39) nonsense probably null
R7984:Heg1 UTSW 16 33,583,945 (GRCm39) missense possibly damaging 0.83
R7987:Heg1 UTSW 16 33,541,100 (GRCm39) nonsense probably null
R8023:Heg1 UTSW 16 33,550,895 (GRCm39) missense possibly damaging 0.61
R8312:Heg1 UTSW 16 33,547,045 (GRCm39) missense probably benign 0.02
R8745:Heg1 UTSW 16 33,555,986 (GRCm39) missense probably benign 0.00
R8843:Heg1 UTSW 16 33,570,863 (GRCm39) missense probably null 1.00
R8911:Heg1 UTSW 16 33,558,627 (GRCm39) nonsense probably null
R9036:Heg1 UTSW 16 33,527,339 (GRCm39) missense probably benign
R9149:Heg1 UTSW 16 33,558,961 (GRCm39) missense probably benign 0.03
R9351:Heg1 UTSW 16 33,545,867 (GRCm39) missense probably benign 0.41
R9682:Heg1 UTSW 16 33,541,298 (GRCm39) missense probably benign 0.26
X0066:Heg1 UTSW 16 33,547,786 (GRCm39) missense probably benign 0.16
Z1177:Heg1 UTSW 16 33,541,057 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCCAGGGTCATCTTCATGCC -3'
(R):5'- ACCGAGTAGTACACGTCTGTC -3'

Sequencing Primer
(F):5'- TTTTGAATGGCAGAGGGGAC -3'
(R):5'- AGTAGTACACGTCTGTCATCTGCAG -3'
Posted On 2019-09-13