Incidental Mutation 'R6774:Heg1'
ID |
532313 |
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 |
044890-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R6774 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 33558638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 815
(T815K)
|
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: T1070K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119790 Gene: ENSMUSG00000075254 AA Change: T1070K
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 damaging
Transcript: ENSMUST00000152782
AA Change: T815K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123686 Gene: ENSMUSG00000075254 AA Change: T815K
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 |
noncoding transcript
Transcript: ENSMUST00000232568
AA Change: T1046K
|
Meta Mutation Damage Score |
0.7491 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (53/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,163,908 (GRCm39) |
I822N |
probably damaging |
Het |
9930111J21Rik1 |
A |
G |
11: 48,838,143 (GRCm39) |
S815P |
possibly damaging |
Het |
A430033K04Rik |
A |
G |
5: 138,644,712 (GRCm39) |
Y199C |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,078,220 (GRCm39) |
H668L |
probably benign |
Het |
Afap1l1 |
A |
T |
18: 61,888,732 (GRCm39) |
V113E |
probably benign |
Het |
Ahnak2 |
C |
T |
12: 112,740,172 (GRCm39) |
C494Y |
possibly damaging |
Het |
Atr |
A |
T |
9: 95,809,266 (GRCm39) |
E1981D |
probably benign |
Het |
Bmp7 |
A |
G |
2: 172,714,751 (GRCm39) |
Y353H |
probably damaging |
Het |
Capn11 |
C |
T |
17: 45,968,256 (GRCm39) |
|
probably benign |
Het |
Ccdc103 |
T |
C |
11: 102,773,519 (GRCm39) |
F47S |
probably damaging |
Het |
Cmas |
A |
G |
6: 142,710,147 (GRCm39) |
Y130C |
possibly damaging |
Het |
Cntn5 |
T |
C |
9: 10,144,222 (GRCm39) |
Y149C |
probably damaging |
Het |
Col12a1 |
A |
C |
9: 79,613,619 (GRCm39) |
S75R |
possibly damaging |
Het |
Crat |
G |
A |
2: 30,303,195 (GRCm39) |
H31Y |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,737,810 (GRCm39) |
V41A |
probably benign |
Het |
F5 |
C |
T |
1: 164,014,447 (GRCm39) |
R573C |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,117,261 (GRCm39) |
N1170S |
possibly damaging |
Het |
Gm29666 |
A |
T |
15: 84,798,260 (GRCm39) |
C100* |
probably null |
Het |
Gm3573 |
A |
T |
14: 42,009,472 (GRCm39) |
Y158N |
possibly damaging |
Het |
Gtf3c1 |
G |
T |
7: 125,240,793 (GRCm39) |
A1968E |
possibly damaging |
Het |
Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
Kif17 |
A |
G |
4: 138,002,306 (GRCm39) |
Y170C |
probably damaging |
Het |
Kti12 |
G |
A |
4: 108,705,652 (GRCm39) |
G189R |
probably benign |
Het |
Lrp4 |
G |
A |
2: 91,341,849 (GRCm39) |
A1821T |
probably benign |
Het |
Mamdc4 |
T |
C |
2: 25,456,948 (GRCm39) |
I610V |
probably benign |
Het |
Mmp1b |
T |
C |
9: 7,387,914 (GRCm39) |
K27E |
probably benign |
Het |
Mob4 |
A |
G |
1: 55,187,588 (GRCm39) |
|
probably null |
Het |
Myc |
G |
A |
15: 61,860,128 (GRCm39) |
|
probably null |
Het |
Myo5c |
A |
T |
9: 75,196,468 (GRCm39) |
I1305F |
probably benign |
Het |
Nprl3 |
A |
G |
11: 32,187,381 (GRCm39) |
V292A |
probably damaging |
Het |
Ntng2 |
T |
C |
2: 29,087,102 (GRCm39) |
T373A |
probably damaging |
Het |
Or1f19 |
T |
A |
16: 3,410,380 (GRCm39) |
V40D |
probably damaging |
Het |
Or4a67 |
C |
T |
2: 88,598,228 (GRCm39) |
V144I |
probably benign |
Het |
Or5p50 |
T |
A |
7: 107,422,395 (GRCm39) |
T94S |
probably benign |
Het |
Or7e171-ps1 |
A |
T |
9: 19,853,070 (GRCm39) |
L222H |
unknown |
Het |
Pard3 |
T |
C |
8: 128,137,228 (GRCm39) |
L859P |
probably damaging |
Het |
Ppcs |
T |
C |
4: 119,276,285 (GRCm39) |
D100G |
probably damaging |
Het |
Prkdc |
G |
T |
16: 15,543,325 (GRCm39) |
|
probably null |
Het |
Pwwp2b |
T |
C |
7: 138,835,903 (GRCm39) |
V448A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,056,119 (GRCm39) |
K624R |
probably benign |
Het |
Spata31e5 |
A |
T |
1: 28,815,974 (GRCm39) |
I686N |
probably benign |
Het |
Synj2 |
C |
T |
17: 6,088,290 (GRCm39) |
S1447L |
possibly damaging |
Het |
Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,928,606 (GRCm39) |
Y2673* |
probably null |
Het |
Trim27 |
T |
A |
13: 21,376,624 (GRCm39) |
H457Q |
probably damaging |
Het |
Trim72 |
T |
G |
7: 127,609,558 (GRCm39) |
F453L |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,015,379 (GRCm39) |
M877K |
probably damaging |
Het |
Usp10 |
T |
C |
8: 120,678,711 (GRCm39) |
L564P |
probably benign |
Het |
Usp54 |
A |
G |
14: 20,627,296 (GRCm39) |
V454A |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,150,904 (GRCm39) |
D701E |
probably benign |
Het |
Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
Zfp35 |
G |
A |
18: 24,136,015 (GRCm39) |
V120I |
possibly damaging |
Het |
Zfp712 |
T |
C |
13: 67,189,568 (GRCm39) |
T320A |
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 |
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'- CGCACTGCTTTGAGTCAAAC -3'
(R):5'- AAGTACATGTTACTGCCATTCTCC -3'
Sequencing Primer
(F):5'- TGAGTCAAACTGCCTGCTGATAC -3'
(R):5'- TATAAAGGCCCAGAGACCGTG -3'
|
Posted On |
2018-08-29 |