Incidental Mutation 'R0589:Heg1'
| ID |
55900 |
| 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 |
038779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R0589 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 33552077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 762
(I762R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: I1017R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: I1017R
| 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 |
noncoding transcript
Transcript: ENSMUST00000132797
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152782
AA Change: I762R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: I762R
| 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 |
possibly damaging
Transcript: ENSMUST00000232568
AA Change: I993R
PolyPhen 2
Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1218 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,833,094 (GRCm39) |
A1202E |
probably damaging |
Het |
| Abcc12 |
A |
T |
8: 87,287,101 (GRCm39) |
I155N |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,140,640 (GRCm39) |
H47Q |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,401,492 (GRCm39) |
D1459V |
possibly damaging |
Het |
| Bicral |
A |
G |
17: 47,112,522 (GRCm39) |
S893P |
probably benign |
Het |
| Camk2a |
G |
A |
18: 61,097,036 (GRCm39) |
|
probably null |
Het |
| Cebpz |
G |
A |
17: 79,244,308 (GRCm39) |
T51I |
probably damaging |
Het |
| Cers5 |
A |
T |
15: 99,638,837 (GRCm39) |
D208E |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,427,355 (GRCm39) |
|
probably benign |
Het |
| Cyp1a2 |
T |
C |
9: 57,586,345 (GRCm39) |
D391G |
possibly damaging |
Het |
| Dct |
G |
T |
14: 118,280,682 (GRCm39) |
F111L |
probably benign |
Het |
| Ddb1 |
T |
G |
19: 10,599,080 (GRCm39) |
I529S |
probably benign |
Het |
| Dhx9 |
G |
T |
1: 153,348,037 (GRCm39) |
Q361K |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,768,086 (GRCm39) |
S592P |
probably benign |
Het |
| Erbin |
G |
T |
13: 104,022,795 (GRCm39) |
R15S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,434,671 (GRCm39) |
S146P |
possibly damaging |
Het |
| Ggnbp2 |
A |
T |
11: 84,727,277 (GRCm39) |
C520S |
probably damaging |
Het |
| Gpx3 |
A |
G |
11: 54,800,329 (GRCm39) |
I208V |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,076,629 (GRCm39) |
|
probably benign |
Het |
| Heatr9 |
T |
C |
11: 83,405,516 (GRCm39) |
|
probably benign |
Het |
| Ints11 |
A |
T |
4: 155,971,343 (GRCm39) |
T264S |
probably damaging |
Het |
| Ints14 |
T |
C |
9: 64,887,113 (GRCm39) |
L348P |
probably damaging |
Het |
| Maco1 |
C |
A |
4: 134,555,528 (GRCm39) |
C315F |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,959,919 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,075 (GRCm39) |
Y1808H |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Mrpl45 |
A |
T |
11: 97,214,714 (GRCm39) |
T134S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,189,453 (GRCm39) |
I1210V |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,131,303 (GRCm39) |
S223P |
probably damaging |
Het |
| Or2j6 |
T |
G |
7: 139,980,813 (GRCm39) |
S49R |
possibly damaging |
Het |
| Or4c115 |
A |
G |
2: 88,927,606 (GRCm39) |
F222L |
probably benign |
Het |
| Or5be3 |
A |
T |
2: 86,864,459 (GRCm39) |
Y35* |
probably null |
Het |
| P3h3 |
T |
A |
6: 124,818,644 (GRCm39) |
E731D |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,279,527 (GRCm39) |
R836G |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,376,385 (GRCm39) |
V1250A |
probably benign |
Het |
| Pgbd1 |
G |
A |
13: 21,618,600 (GRCm39) |
T19I |
possibly damaging |
Het |
| Phtf2 |
T |
A |
5: 21,018,249 (GRCm39) |
R31* |
probably null |
Het |
| Plod2 |
T |
A |
9: 92,475,799 (GRCm39) |
V294D |
probably benign |
Het |
| Rassf5 |
C |
T |
1: 131,172,720 (GRCm39) |
G50R |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,444,606 (GRCm39) |
T694A |
probably benign |
Het |
| Rtcb |
A |
C |
10: 85,787,315 (GRCm39) |
S82A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,172,042 (GRCm39) |
L255P |
probably damaging |
Het |
| Slc35c1 |
A |
G |
2: 92,284,859 (GRCm39) |
F252L |
probably damaging |
Het |
| Slco6d1 |
A |
T |
1: 98,427,472 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
G |
15: 79,047,485 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,529,028 (GRCm39) |
M1762V |
probably benign |
Het |
| Stat3 |
A |
T |
11: 100,798,909 (GRCm39) |
Y94N |
probably damaging |
Het |
| Tasor |
T |
C |
14: 27,183,107 (GRCm39) |
I522T |
probably benign |
Het |
| Tecta |
T |
A |
9: 42,256,930 (GRCm39) |
Y1582F |
probably benign |
Het |
| Tex44 |
A |
G |
1: 86,355,453 (GRCm39) |
D454G |
probably damaging |
Het |
| Tle6 |
A |
G |
10: 81,431,253 (GRCm39) |
|
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,484,041 (GRCm39) |
E303G |
probably damaging |
Het |
| Trem1 |
A |
G |
17: 48,544,245 (GRCm39) |
D90G |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,284,229 (GRCm39) |
D751E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,795,589 (GRCm39) |
|
probably null |
Het |
| Vars2 |
T |
C |
17: 35,970,068 (GRCm39) |
T774A |
probably benign |
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 |
|
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 |
|
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'- TGATGATCCATTGCCTGCCACC -3'
(R):5'- GCACCTGTCTGTGGCTAACAACTC -3'
Sequencing Primer
(F):5'- CACGTGCAACAATACTCAGG -3'
(R):5'- GGAGTAACAGGCAATGAGCTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation