Incidental Mutation 'R7186:Heg1'
ID 559329
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 045271-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R7186 (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 33552034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1003 (F1003L)
Ref Sequence ENSEMBL: ENSMUSP00000119790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126532] [ENSMUST00000152782] [ENSMUST00000232568]
AlphaFold E9Q7X6
Predicted Effect probably damaging
Transcript: ENSMUST00000126532
AA Change: F1003L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: F1003L

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: ENSMUST00000152782
AA Change: F748L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: F748L

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: F979L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,100 (GRCm39) I778F possibly damaging Het
Adam39 A T 8: 41,279,349 (GRCm39) N580I probably damaging Het
Adamts20 A G 15: 94,220,689 (GRCm39) S1415P possibly damaging Het
Adcy2 A G 13: 68,816,758 (GRCm39) Y743H probably damaging Het
Aldh1a3 A G 7: 66,055,831 (GRCm39) V320A probably damaging Het
Arid1a TGCCGCCGCCGCCGCCGCCGCCG TGCCGCCGCCGCCGCCGCCG 4: 133,480,544 (GRCm39) Het
Art5 G T 7: 101,746,536 (GRCm39) R268S probably benign Het
Bfar T C 16: 13,510,371 (GRCm39) V238A probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdc23 G A 18: 34,770,175 (GRCm39) T408I probably damaging Het
Cdh24 G C 14: 54,870,949 (GRCm39) P522A probably benign Het
Clk4 T C 11: 51,159,607 (GRCm39) V61A probably benign Het
Clrn2 T C 5: 45,611,115 (GRCm39) probably benign Het
Cyp2j8 T C 4: 96,363,787 (GRCm39) D292G probably benign Het
Deaf1 T C 7: 140,907,383 (GRCm39) E34G probably benign Het
Elovl7 A G 13: 108,408,382 (GRCm39) E127G probably damaging Het
Flg A T 3: 93,187,252 (GRCm39) R235* probably null Het
Gbp3 G A 3: 142,269,923 (GRCm39) V77M probably damaging Het
Gda A T 19: 21,372,569 (GRCm39) F450I probably benign Het
Gipc1 A G 8: 84,390,762 (GRCm39) E289G possibly damaging Het
Gm4924 T C 10: 82,214,778 (GRCm39) Y859H unknown Het
Gpatch1 A T 7: 34,994,738 (GRCm39) D509E possibly damaging Het
Gpbp1 A G 13: 111,577,233 (GRCm39) V219A possibly damaging Het
Gpr107 A T 2: 31,042,371 (GRCm39) M1L possibly damaging Het
Hivep1 A G 13: 42,309,814 (GRCm39) T685A probably benign Het
Hpse T A 5: 100,843,395 (GRCm39) D259V probably damaging Het
Ido2 A T 8: 25,040,826 (GRCm39) probably null Het
Ighv14-1 T C 12: 113,895,649 (GRCm39) D92G probably damaging Het
Krt87 A T 15: 101,385,083 (GRCm39) probably null Het
Lsp1 T C 7: 142,044,089 (GRCm39) V278A probably damaging Het
Lurap1l C A 4: 80,829,747 (GRCm39) S52R possibly damaging Het
Luzp2 A G 7: 54,485,577 (GRCm39) probably benign Het
Micall1 A G 15: 79,009,575 (GRCm39) E399G unknown Het
Ncapd2 A G 6: 125,163,119 (GRCm39) S130P possibly damaging Het
Nrg2 A G 18: 36,178,973 (GRCm39) V321A probably benign Het
Nuf2 T C 1: 169,352,954 (GRCm39) H17R probably damaging Het
Numb A G 12: 83,842,920 (GRCm39) W419R probably damaging Het
Or4d2b G A 11: 87,780,591 (GRCm39) L44F possibly damaging Het
Or4f62 T A 2: 111,986,507 (GRCm39) D70E probably damaging Het
Or56a3b A G 7: 104,771,473 (GRCm39) R270G probably benign Het
Pde6a T A 18: 61,353,678 (GRCm39) M1K probably null Het
Pknox1 C T 17: 31,822,172 (GRCm39) A313V probably damaging Het
Ppp2ca T A 11: 52,010,080 (GRCm39) N229K possibly damaging Het
Ptgdr A T 14: 45,096,401 (GRCm39) C104S probably damaging Het
Ralgapa2 C A 2: 146,230,406 (GRCm39) probably null Het
Rfx5 G T 3: 94,865,659 (GRCm39) K319N probably benign Het
Rnase10 A T 14: 51,247,242 (GRCm39) T207S probably damaging Het
Rreb1 A G 13: 38,125,608 (GRCm39) T1305A probably benign Het
Rrp12 C A 19: 41,859,744 (GRCm39) probably null Het
Rubcnl A C 14: 75,269,453 (GRCm39) D37A possibly damaging Het
Saxo5 T C 8: 3,529,049 (GRCm39) F208S probably damaging Het
Scn9a T C 2: 66,364,567 (GRCm39) Y802C probably damaging Het
Sec16a A T 2: 26,330,715 (GRCm39) Y433* probably null Het
Sgk3 T A 1: 9,956,227 (GRCm39) V331D probably benign Het
Sirt7 C T 11: 120,511,311 (GRCm39) R280H probably benign Het
Snx13 G C 12: 35,142,912 (GRCm39) R252S probably damaging Het
Stk32b G T 5: 37,624,125 (GRCm39) D207E probably damaging Het
Sult2a7 C T 7: 14,203,978 (GRCm39) V262I not run Het
Tcstv7b C T 13: 120,702,587 (GRCm39) L128F probably damaging Het
Tent5b T A 4: 133,213,518 (GRCm39) F130I probably damaging Het
Tmem33 G C 5: 67,421,130 (GRCm39) V35L possibly damaging Het
Uba1y A G Y: 825,537 (GRCm39) I300V probably benign Het
Usp32 A T 11: 84,942,060 (GRCm39) V344E probably benign Het
Usp50 C T 2: 126,625,218 (GRCm39) probably benign Het
Vmn1r238 A C 18: 3,122,661 (GRCm39) F251C probably damaging Het
Vmn2r74 A T 7: 85,601,150 (GRCm39) Y829* probably null Het
Wars1 A G 12: 108,846,982 (GRCm39) F141L probably damaging Het
Zfp879 A G 11: 50,724,621 (GRCm39) V145A probably benign Het
Zfp934 A T 13: 62,640,204 (GRCm39) V56D 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
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
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'- TGAGAACAAGGGTGGCTTCC -3'
(R):5'- AAAAGTACCGCATCTGCAGGC -3'

Sequencing Primer
(F):5'- CTTCTTTGGAAGCACACGAC -3'
(R):5'- CATCTGCAGGCGTTGGAGTAAC -3'
Posted On 2019-06-26