Incidental Mutation 'R8911:Heg1'
| ID |
678652 |
| 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 |
068764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R8911 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 33558627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 1066
(Y1066*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000126532
AA Change: Y1066*
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: Y1066*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000152782
AA Change: Y811*
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: Y811*
| Domain | Start | End | E-Value | Type |
|---|
|
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 null
Transcript: ENSMUST00000232568
AA Change: Y1042*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (76/76) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
| 3425401B19Rik |
A |
T |
14: 32,383,626 (GRCm39) |
C780S |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,380,690 (GRCm39) |
D306G |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,558,163 (GRCm39) |
|
probably benign |
Het |
| Agt |
T |
C |
8: 125,291,184 (GRCm39) |
Y41C |
probably benign |
Het |
| Alx3 |
G |
T |
3: 107,511,603 (GRCm39) |
R204L |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bcl11a |
C |
T |
11: 24,114,763 (GRCm39) |
P702L |
probably damaging |
Het |
| Bpifa2 |
A |
G |
2: 153,851,090 (GRCm39) |
N17S |
probably benign |
Het |
| Cabcoco1 |
T |
C |
10: 68,377,584 (GRCm39) |
D35G |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,252,187 (GRCm39) |
K21R |
probably benign |
Het |
| Cdhr18 |
T |
C |
14: 13,823,796 (GRCm38) |
|
probably null |
Het |
| Cntn4 |
T |
C |
6: 106,330,743 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
A |
C |
17: 58,506,043 (GRCm39) |
N689T |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,883,238 (GRCm39) |
Y389C |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,887,630 (GRCm39) |
|
probably null |
Het |
| Coro1b |
G |
A |
19: 4,200,803 (GRCm39) |
R245Q |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,019 (GRCm39) |
D244G |
probably damaging |
Het |
| Ctcfl |
C |
T |
2: 172,937,121 (GRCm39) |
|
probably null |
Het |
| Dpy19l4 |
G |
A |
4: 11,317,078 (GRCm39) |
P40L |
possibly damaging |
Het |
| Dsg4 |
C |
A |
18: 20,584,929 (GRCm39) |
Y214* |
probably null |
Het |
| Eapp |
A |
T |
12: 54,739,440 (GRCm39) |
|
probably benign |
Het |
| Fmo6 |
T |
C |
1: 162,748,114 (GRCm39) |
T317A |
possibly damaging |
Het |
| Gm11595 |
A |
G |
11: 99,663,564 (GRCm39) |
C39R |
unknown |
Het |
| Golim4 |
T |
C |
3: 75,813,703 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,740,903 (GRCm39) |
S1393L |
possibly damaging |
Het |
| Guca1b |
A |
G |
17: 47,700,044 (GRCm39) |
I73V |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,694,789 (GRCm39) |
V796I |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,795,616 (GRCm39) |
I2271T |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,880,173 (GRCm39) |
K514N |
|
Het |
| Ice1 |
C |
T |
13: 70,740,787 (GRCm39) |
R70Q |
|
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,004,447 (GRCm39) |
T245A |
probably damaging |
Het |
| Jhy |
G |
A |
9: 40,822,453 (GRCm39) |
Q562* |
probably null |
Het |
| Khnyn |
A |
G |
14: 56,124,735 (GRCm39) |
R330G |
probably benign |
Het |
| Lamc2 |
A |
T |
1: 153,027,873 (GRCm39) |
C184S |
probably damaging |
Het |
| Lhx5 |
T |
A |
5: 120,574,509 (GRCm39) |
L271* |
probably null |
Het |
| Magel2 |
G |
A |
7: 62,029,537 (GRCm39) |
V814M |
unknown |
Het |
| Manf |
A |
G |
9: 106,767,461 (GRCm39) |
I85T |
possibly damaging |
Het |
| Mgmt |
A |
G |
7: 136,729,794 (GRCm39) |
T203A |
probably benign |
Het |
| Mmp9 |
C |
T |
2: 164,794,568 (GRCm39) |
S520F |
possibly damaging |
Het |
| Myrip |
A |
G |
9: 120,270,484 (GRCm39) |
E578G |
possibly damaging |
Het |
| Naaladl2 |
A |
G |
3: 23,900,757 (GRCm39) |
M691T |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4c112 |
T |
C |
2: 88,854,294 (GRCm39) |
N18D |
probably benign |
Het |
| Or4c117 |
T |
C |
2: 88,955,608 (GRCm39) |
I156V |
probably benign |
Het |
| Pcdhga12 |
A |
T |
18: 37,900,118 (GRCm39) |
M317L |
possibly damaging |
Het |
| Pcnt |
T |
G |
10: 76,223,359 (GRCm39) |
K1941T |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,650,917 (GRCm39) |
M896K |
probably benign |
Het |
| Pfkfb3 |
A |
T |
2: 11,487,254 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,946,201 (GRCm39) |
S542P |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,247,257 (GRCm39) |
V822A |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,141 (GRCm39) |
G717C |
probably damaging |
Het |
| Ptprs |
C |
T |
17: 56,730,320 (GRCm39) |
A1185T |
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,503,560 (GRCm39) |
I1157F |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,591,268 (GRCm39) |
T457A |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,812 (GRCm39) |
E270G |
probably damaging |
Het |
| Rrp15 |
C |
T |
1: 186,453,641 (GRCm39) |
E269K |
unknown |
Het |
| Sec23b |
T |
C |
2: 144,401,316 (GRCm39) |
V59A |
probably benign |
Het |
| Slc22a21 |
A |
T |
11: 53,846,809 (GRCm39) |
|
probably null |
Het |
| Sp5 |
C |
A |
2: 70,306,962 (GRCm39) |
P216T |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,775,622 (GRCm39) |
D385E |
probably damaging |
Het |
| Trim37 |
C |
T |
11: 87,097,629 (GRCm39) |
S808F |
possibly damaging |
Het |
| Tsks |
A |
T |
7: 44,592,694 (GRCm39) |
|
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,791,087 (GRCm39) |
S563T |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,987,893 (GRCm39) |
D580G |
unknown |
Het |
| Usp14 |
A |
G |
18: 9,996,194 (GRCm39) |
I462T |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn1r184 |
C |
G |
7: 25,966,310 (GRCm39) |
Q19E |
possibly damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,710 (GRCm39) |
A64E |
probably benign |
Het |
| Zc3h11a |
T |
A |
1: 133,566,339 (GRCm39) |
N211I |
probably damaging |
Het |
| Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,061 (GRCm39) |
S723T |
probably benign |
Het |
| Zmynd12 |
A |
T |
4: 119,294,286 (GRCm39) |
I88F |
probably damaging |
Het |
|
| Other mutations in Heg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- AAAGGCCGCACTGCTTTGAG -3'
(R):5'- ATGTTACTGCCATTCTCCACAG -3'
Sequencing Primer
(F):5'- TGAGTCAAACTGCCTGCTGATAC -3'
(R):5'- ACCGTGGTCTTGGGTTACCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation