Incidental Mutation 'R7091:Heg1'
ID 550235
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 045185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R7091 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 33504754-33591946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33547090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 650 (S650P)
Ref Sequence ENSEMBL: ENSMUSP00000119790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126532] [ENSMUST00000152782] [ENSMUST00000232568]
AlphaFold E9Q7X6
Predicted Effect probably benign
Transcript: ENSMUST00000126532
AA Change: S650P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: S650P

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 probably benign
Transcript: ENSMUST00000152782
AA Change: S395P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: S395P

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 possibly damaging
Transcript: ENSMUST00000232568
AA Change: S626P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (56/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A C 3: 40,871,173 (GRCm39) I111L probably damaging Het
Ank1 A G 8: 23,548,679 (GRCm39) D11G probably benign Het
Ank2 G T 3: 126,817,000 (GRCm39) Q472K probably damaging Het
Apbb2 A T 5: 66,470,677 (GRCm39) L520H probably damaging Het
Baat T C 4: 49,499,692 (GRCm39) K205E probably benign Het
Brca1 T A 11: 101,417,253 (GRCm39) M294L probably benign Het
Capn1 A G 19: 6,041,586 (GRCm39) M641T possibly damaging Het
Cluap1 T A 16: 3,758,670 (GRCm39) D377E probably benign Het
Col6a2 C T 10: 76,450,925 (GRCm39) V39I unknown Het
Crybg3 T A 16: 59,377,531 (GRCm39) D1241V possibly damaging Het
Dnah10 A G 5: 124,893,206 (GRCm39) K3380R probably benign Het
Eml5 T C 12: 98,768,733 (GRCm39) I1400M probably benign Het
Fancd2 A G 6: 113,522,062 (GRCm39) D219G probably damaging Het
Fras1 A G 5: 96,856,535 (GRCm39) S1973G probably benign Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
G3bp1 T A 11: 55,387,047 (GRCm39) H271Q possibly damaging Het
Glce A G 9: 61,967,870 (GRCm39) V427A probably damaging Het
Gm5141 T C 13: 62,921,778 (GRCm39) T464A possibly damaging Het
Gulp1 T A 1: 44,805,294 (GRCm39) F128I probably damaging Het
H2-T13 T C 17: 36,394,833 (GRCm39) E30G possibly damaging Het
Hcrtr1 A C 4: 130,024,707 (GRCm39) L393W probably damaging Het
Hspa4l T A 3: 40,736,024 (GRCm39) N569K probably benign Het
Ifi206 A G 1: 173,301,441 (GRCm39) F746L unknown Het
Ivl T C 3: 92,479,549 (GRCm39) D172G possibly damaging Het
Lrp5 A T 19: 3,680,184 (GRCm39) D433E probably damaging Het
Mgam T C 6: 40,745,210 (GRCm39) S1826P possibly damaging Het
Ms4a18 A T 19: 10,986,092 (GRCm39) L206M probably damaging Het
Msln A T 17: 25,969,054 (GRCm39) C444S probably damaging Het
Mta1 A G 12: 113,100,022 (GRCm39) D644G probably damaging Het
Muc5ac G C 7: 141,363,424 (GRCm39) probably benign Het
Naa15 T C 3: 51,366,177 (GRCm39) probably null Het
Nadk A G 4: 155,672,215 (GRCm39) H302R probably benign Het
Neb T A 2: 52,146,124 (GRCm39) N15I Het
Nup153 A T 13: 46,837,404 (GRCm39) S1273T probably benign Het
Ofcc1 A G 13: 40,226,243 (GRCm39) I763T probably damaging Het
Or4b13 T C 2: 90,082,807 (GRCm39) Y175C probably damaging Het
Oxsr1 T C 9: 119,113,727 (GRCm39) I107V probably benign Het
Prmt5 A G 14: 54,748,799 (GRCm39) probably null Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ranbp6 A G 19: 29,790,116 (GRCm39) S79P probably damaging Het
Reln T C 5: 22,104,027 (GRCm39) I3315V probably null Het
Rnf223 T C 4: 156,217,156 (GRCm39) V177A probably benign Het
Slc20a1 C T 2: 129,050,192 (GRCm39) T450M possibly damaging Het
Smg5 C T 3: 88,258,654 (GRCm39) P542S probably benign Het
Sorl1 T A 9: 41,913,930 (GRCm39) Q1333L probably benign Het
Spag5 T A 11: 78,204,017 (GRCm39) probably null Het
Spopfm1 T C 3: 94,173,945 (GRCm39) F314L probably damaging Het
Tdp2 T A 13: 25,022,207 (GRCm39) F209I probably damaging Het
Tgm4 C A 9: 122,869,525 (GRCm39) L35M probably damaging Het
Tma7 A G 9: 108,911,580 (GRCm39) probably benign Het
Tmprss4 A T 9: 45,095,571 (GRCm39) V91D probably damaging Het
Tnfsf4 T A 1: 161,223,268 (GRCm39) M39K probably benign Het
Ttn T A 2: 76,543,912 (GRCm39) T33025S probably benign Het
Tut1 A G 19: 8,943,175 (GRCm39) H754R probably benign Het
Vmn2r27 T G 6: 124,200,904 (GRCm39) Q351P possibly damaging Het
Wee2 G T 6: 40,438,936 (GRCm39) G353V probably benign Het
Zfp747l1 C A 7: 126,983,534 (GRCm39) A523S possibly damaging Het
Zfp879 T A 11: 50,724,222 (GRCm39) H278L probably 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
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
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'- CTAAACAGAGTAGCATGTCCTCCG -3'
(R):5'- ACTGAAGTCACACGTGGCTC -3'

Sequencing Primer
(F):5'- TAGCATGTCCTCCGACGATGAC -3'
(R):5'- AAGTCACACGTGGCTCCCTTG -3'
Posted On 2019-05-15