Incidental Mutation 'R7304:Heg1'
| ID |
567195 |
| 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 |
045365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7304 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33581160 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 13
(A13T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000128105]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: A1212T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: A1212T
| 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 |
possibly damaging
Transcript: ENSMUST00000128105
AA Change: A13T
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152782
AA Change: A957T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: A957T
| 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 damaging
Transcript: ENSMUST00000232568
AA Change: A1188T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,247,203 (GRCm39) |
S2317G |
probably benign |
Het |
| Acap2 |
A |
C |
16: 30,926,934 (GRCm39) |
L502R |
probably benign |
Het |
| Amotl2 |
A |
G |
9: 102,605,549 (GRCm39) |
E467G |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,743,147 (GRCm39) |
|
probably null |
Het |
| Armc9 |
C |
G |
1: 86,090,437 (GRCm39) |
D77E |
probably benign |
Het |
| Art1 |
T |
A |
7: 101,755,531 (GRCm39) |
S8T |
possibly damaging |
Het |
| Asic5 |
G |
A |
3: 81,916,872 (GRCm39) |
A321T |
possibly damaging |
Het |
| Astn2 |
A |
G |
4: 66,103,612 (GRCm39) |
I267T |
unknown |
Het |
| Bmp8a |
T |
C |
4: 123,236,182 (GRCm39) |
N107S |
probably benign |
Het |
| Card14 |
T |
A |
11: 119,228,573 (GRCm39) |
L633Q |
probably damaging |
Het |
| Chpf |
C |
T |
1: 75,455,698 (GRCm39) |
V18M |
possibly damaging |
Het |
| Cog7 |
T |
C |
7: 121,536,362 (GRCm39) |
I493V |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,386,971 (GRCm39) |
N1394I |
unknown |
Het |
| Crybg1 |
C |
T |
10: 43,873,254 (GRCm39) |
D1285N |
probably benign |
Het |
| Depdc7 |
A |
G |
2: 104,553,463 (GRCm39) |
V395A |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,329,286 (GRCm39) |
L379F |
probably damaging |
Het |
| Dnajc13 |
G |
T |
9: 104,115,713 (GRCm39) |
T32N |
probably benign |
Het |
| Dok2 |
T |
A |
14: 71,013,468 (GRCm39) |
S133R |
probably benign |
Het |
| Ehbp1l1 |
C |
T |
19: 5,766,410 (GRCm39) |
R1311H |
probably damaging |
Het |
| Gm3099 |
A |
T |
14: 15,346,488 (GRCm39) |
N118I |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
| Ifi209 |
A |
T |
1: 173,470,156 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,931 (GRCm39) |
T367A |
possibly damaging |
Het |
| Itgb3bp |
C |
G |
4: 99,657,758 (GRCm39) |
E169Q |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,066 (GRCm39) |
T216A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,742,042 (GRCm39) |
M10K |
probably benign |
Het |
| Krt17 |
T |
G |
11: 100,148,163 (GRCm39) |
Q397P |
probably benign |
Het |
| Lrtm1 |
T |
A |
14: 28,744,075 (GRCm39) |
M181K |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,975,301 (GRCm39) |
H741R |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,996,599 (GRCm39) |
Y120* |
probably null |
Het |
| Myh14 |
T |
A |
7: 44,279,415 (GRCm39) |
T922S |
probably benign |
Het |
| Nfkbie |
A |
T |
17: 45,871,067 (GRCm39) |
I240F |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 54,115,824 (GRCm39) |
H915Q |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,178,994 (GRCm39) |
V314E |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,854,190 (GRCm39) |
Y195* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,777,077 (GRCm39) |
N28S |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,740,493 (GRCm39) |
T243A |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,878 (GRCm39) |
N517I |
possibly damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,294,874 (GRCm39) |
Y99C |
probably benign |
Het |
| Plpp6 |
T |
C |
19: 28,941,617 (GRCm39) |
S73P |
probably benign |
Het |
| Polb |
T |
C |
8: 23,129,975 (GRCm39) |
N199S |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,838,840 (GRCm39) |
N13D |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,164 (GRCm39) |
V862D |
probably damaging |
Het |
| Rassf4 |
T |
C |
6: 116,617,278 (GRCm39) |
I242M |
probably damaging |
Het |
| Rnf19a |
G |
A |
15: 36,254,598 (GRCm39) |
T320I |
probably damaging |
Het |
| Sctr |
A |
T |
1: 119,949,970 (GRCm39) |
E53V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,442,519 (GRCm39) |
D103G |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,814,633 (GRCm39) |
Q220R |
|
Het |
| Stk40 |
G |
A |
4: 126,019,483 (GRCm39) |
E86K |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,005 (GRCm39) |
I235F |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,280 (GRCm39) |
V56A |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 130,030,890 (GRCm39) |
N1075S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,245,278 (GRCm39) |
Y51C |
probably benign |
Het |
| Trav16n |
T |
A |
14: 53,588,859 (GRCm39) |
V45E |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,837 (GRCm39) |
S79P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,029,449 (GRCm39) |
T484M |
probably damaging |
Het |
| Usp49 |
T |
C |
17: 47,983,796 (GRCm39) |
V267A |
possibly damaging |
Het |
| Vldlr |
T |
A |
19: 27,216,004 (GRCm39) |
D305E |
possibly damaging |
Het |
| Vmn1r226 |
G |
T |
17: 20,908,011 (GRCm39) |
C81F |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,824 (GRCm39) |
V214A |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,671 (GRCm39) |
N299S |
probably damaging |
Het |
| Vwa3b |
T |
C |
1: 37,203,586 (GRCm39) |
L55S |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,070,480 (GRCm39) |
D1105G |
probably benign |
Het |
| Zbtb38 |
A |
G |
9: 96,569,480 (GRCm39) |
S535P |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,826 (GRCm39) |
I233V |
probably damaging |
Het |
| Zfp579 |
T |
A |
7: 4,997,582 (GRCm39) |
T110S |
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 |
|
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'- TAGCCTTGGAGGATCTCTGG -3'
(R):5'- TCATAAGGAGGACAACACTTTGTTC -3'
Sequencing Primer
(F):5'- CTTGGAGGATCTCTGGGCCAG -3'
(R):5'- ATGTAGTCCAGGCTTGCCTAGAAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation