Incidental Mutation 'R5227:Heg1'
ID 402704
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 042800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 33504754-33591946 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 33583961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1256 (L1256Q)
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: L1280Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: L1280Q

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 damaging
Transcript: ENSMUST00000128105
AA Change: L81Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146518
Predicted Effect probably damaging
Transcript: ENSMUST00000152782
AA Change: L1025Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: L1025Q

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: L1256Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Emilin3 T A 2: 160,751,185 (GRCm39) Q188L probably damaging Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V probably benign 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
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'- ACACTCAGTCTTGTCGAAGATG -3'
(R):5'- TCACACTGAAGAACTCCATGTC -3'

Sequencing Primer
(F):5'- CACTCAGTCTTGTCGAAGATGTCATG -3'
(R):5'- TGAAGAACTCCATGTCACCAGG -3'
Posted On 2016-07-22