Incidental Mutation 'R9682:Heg1'
| ID |
728652 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R9682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33541298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 485
(E485G)
|
| 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: E485G
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: E485G
| 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 benign
Transcript: ENSMUST00000152782
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
| 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 |
unknown
Transcript: ENSMUST00000232568
AA Change: E388G
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,752,507 (GRCm39) |
M493L |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,896,328 (GRCm39) |
I334F |
probably damaging |
Het |
| Acad9 |
C |
T |
3: 36,136,268 (GRCm39) |
A351V |
possibly damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,316,128 (GRCm39) |
N536K |
possibly damaging |
Het |
| Alk |
A |
T |
17: 72,182,058 (GRCm39) |
L1322M |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,815,662 (GRCm39) |
V102A |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,371,230 (GRCm39) |
N48S |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,649,516 (GRCm39) |
I294L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,496,445 (GRCm39) |
S88P |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,176 (GRCm39) |
Y152C |
probably damaging |
Het |
| Cd28 |
T |
C |
1: 60,804,505 (GRCm39) |
L161P |
probably damaging |
Het |
| Clcn4 |
C |
T |
7: 7,299,797 (GRCm39) |
V11M |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,757,713 (GRCm39) |
S79C |
unknown |
Het |
| Cux1 |
A |
T |
5: 136,337,116 (GRCm39) |
S799T |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,611 (GRCm39) |
H408L |
probably damaging |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,326 (GRCm39) |
W58R |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,484 (GRCm39) |
V921A |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,491,313 (GRCm39) |
L268P |
probably damaging |
Het |
| Dus3l |
G |
A |
17: 57,076,770 (GRCm39) |
V626I |
probably benign |
Het |
| Epb41 |
C |
A |
4: 131,655,820 (GRCm39) |
D337Y |
|
Het |
| Fer1l6 |
A |
G |
15: 58,422,113 (GRCm39) |
T104A |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,202 (GRCm39) |
T118A |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,798,415 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Gm28168 |
A |
T |
1: 117,875,824 (GRCm39) |
H151L |
probably damaging |
Het |
| Gm7995 |
A |
G |
14: 42,133,395 (GRCm39) |
I91V |
|
Het |
| Hirip3 |
A |
G |
7: 126,462,021 (GRCm39) |
D73G |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,091,332 (GRCm39) |
D684G |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,815,712 (GRCm39) |
E502G |
probably damaging |
Het |
| Lrrc31 |
C |
T |
3: 30,743,423 (GRCm39) |
V181I |
probably damaging |
Het |
| Lrrc7 |
G |
T |
3: 157,882,954 (GRCm39) |
S446R |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,831,526 (GRCm39) |
E1650G |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,975,419 (GRCm39) |
Y718C |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,095,384 (GRCm39) |
|
probably null |
Het |
| Muc16 |
C |
T |
9: 18,553,874 (GRCm39) |
G4140R |
unknown |
Het |
| Nfe2l1 |
A |
C |
11: 96,710,944 (GRCm39) |
I428M |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,051,469 (GRCm39) |
Y538N |
possibly damaging |
Het |
| Nxpe4 |
G |
A |
9: 48,304,248 (GRCm39) |
V112M |
probably benign |
Het |
| Or1e16 |
C |
T |
11: 73,286,025 (GRCm39) |
M274I |
probably benign |
Het |
| Or4c112 |
T |
A |
2: 88,854,296 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k40 |
T |
A |
2: 111,250,737 (GRCm39) |
K186N |
probably benign |
Het |
| Or52d3 |
G |
T |
7: 104,229,434 (GRCm39) |
A194S |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,874 (GRCm39) |
H56Y |
possibly damaging |
Het |
| Palm |
A |
G |
10: 79,655,039 (GRCm39) |
T266A |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,257,262 (GRCm39) |
K925N |
probably damaging |
Het |
| Pfkfb3 |
G |
T |
2: 11,491,058 (GRCm39) |
Q179K |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,901,214 (GRCm39) |
Q421R |
possibly damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,356,318 (GRCm39) |
S207T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,626,790 (GRCm39) |
V324A |
probably damaging |
Het |
| Plcxd1 |
A |
T |
5: 110,251,477 (GRCm39) |
N351I |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 32,988,023 (GRCm39) |
P491S |
probably benign |
Het |
| Rxfp2 |
A |
T |
5: 149,966,564 (GRCm39) |
R101* |
probably null |
Het |
| Saxo2 |
T |
G |
7: 82,292,881 (GRCm39) |
K72T |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,481,013 (GRCm39) |
D108V |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,748 (GRCm39) |
D150G |
probably damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,340,704 (GRCm39) |
M544I |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,981 (GRCm39) |
|
probably null |
Het |
| Stat3 |
A |
G |
11: 100,785,593 (GRCm39) |
F512L |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
| Tjp3 |
C |
T |
10: 81,109,645 (GRCm39) |
E853K |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,111,180 (GRCm39) |
S31T |
probably benign |
Het |
| Tpte |
A |
T |
8: 22,841,493 (GRCm39) |
D495V |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,522 (GRCm39) |
M215K |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,875,529 (GRCm39) |
S1246G |
unknown |
Het |
| Vsig2 |
T |
C |
9: 37,451,771 (GRCm39) |
L135S |
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 |
|
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 |
|
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 |
|
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'- TTAGATCAGACCCCTCCATTGGTG -3'
(R):5'- TCAGCTAAGAGAATAATGGCCTGG -3'
Sequencing Primer
(F):5'- CCATTGGTGGTGGAGAGAGC -3'
(R):5'- TGGCCTGGGAATAGTGAAATTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation