Incidental Mutation 'R0942:Heg1'
ID 82773
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 039081-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R0942 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 33504754-33591946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33581173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1192 (L1192P)
Ref Sequence ENSEMBL: ENSMUSP00000155944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126532] [ENSMUST00000128105] [ENSMUST00000152782] [ENSMUST00000232568]
AlphaFold E9Q7X6
Predicted Effect probably damaging
Transcript: ENSMUST00000126532
AA Change: L1216P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: L1216P

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: L17P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146518
Predicted Effect probably damaging
Transcript: ENSMUST00000152782
AA Change: L961P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: L961P

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: ENSMUST00000152832
Predicted Effect probably damaging
Transcript: ENSMUST00000232568
AA Change: L1192P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.5287 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Grb7 T C 11: 98,344,634 (GRCm39) Y346H probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G possibly damaging 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
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
R7405:Heg1 UTSW 16 33,583,819 (GRCm39) missense possibly damaging 0.66
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'- AGCTGAAAGAGGGAATCCTCTCACTG -3'
(R):5'- CGGCTTTGCACTTGCTTTATAGCTAAG -3'

Sequencing Primer
(F):5'- AAGCAGAACTCTAGCCTTGG -3'
(R):5'- ttcttgattcttcttgcctttcc -3'
Posted On 2013-11-08