Incidental Mutation 'R1109:Heg1'
| ID |
98690 |
| 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 |
039182-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R1109 (G1)
|
| Quality Score |
136 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33583961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 1256
(L1256Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000128105]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: L1280Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: L1280Q
| 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: ENSMUST00000128105
AA Change: L81Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146518
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152782
AA Change: L1025Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: L1025Q
| 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: ENSMUST00000152832
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232568
AA Change: L1256Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.9%
|
| Validation Efficiency |
100% (80/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
T |
G |
3: 121,573,245 (GRCm39) |
E262D |
probably damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,210 (GRCm39) |
A504T |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,606,545 (GRCm39) |
T515A |
probably benign |
Het |
| Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
| Arhgap44 |
T |
A |
11: 64,917,642 (GRCm39) |
H375L |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,384,496 (GRCm39) |
I98F |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,305,719 (GRCm39) |
|
probably benign |
Het |
| Coa3 |
T |
C |
11: 101,169,611 (GRCm39) |
K48R |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,607,005 (GRCm39) |
S473P |
probably damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,833,684 (GRCm39) |
Y451N |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,043,927 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Dtx1 |
G |
A |
5: 120,848,484 (GRCm39) |
|
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,780,114 (GRCm39) |
F479I |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,786,723 (GRCm39) |
T407A |
probably benign |
Het |
| Esrp1 |
T |
C |
4: 11,365,205 (GRCm39) |
E262G |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,418,951 (GRCm39) |
Y466C |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,703,150 (GRCm39) |
F1625S |
possibly damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,479,128 (GRCm39) |
H374Q |
probably benign |
Het |
| Focad |
T |
C |
4: 88,114,984 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
T |
2: 22,571,406 (GRCm39) |
R448L |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,580,171 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,637,405 (GRCm39) |
E377D |
probably benign |
Het |
| Gcc1 |
A |
C |
6: 28,419,166 (GRCm39) |
L389R |
probably damaging |
Het |
| Ggct |
A |
T |
6: 54,966,554 (GRCm39) |
|
probably benign |
Het |
| Gm7052 |
G |
A |
17: 22,259,133 (GRCm39) |
|
probably benign |
Het |
| Gps2 |
T |
A |
11: 69,806,507 (GRCm39) |
H177Q |
possibly damaging |
Het |
| Il36a |
G |
A |
2: 24,106,602 (GRCm39) |
G62E |
probably damaging |
Het |
| Il3ra |
C |
T |
14: 14,349,317 (GRCm38) |
R138W |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,945,245 (GRCm39) |
K655N |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,706,430 (GRCm39) |
I848N |
probably damaging |
Het |
| L3hypdh |
A |
G |
12: 72,120,770 (GRCm39) |
V327A |
possibly damaging |
Het |
| Lepr |
G |
T |
4: 101,628,552 (GRCm39) |
L552F |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,740,941 (GRCm39) |
I449T |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,544,225 (GRCm39) |
K8E |
probably benign |
Het |
| Mex3a |
G |
T |
3: 88,443,967 (GRCm39) |
D348Y |
possibly damaging |
Het |
| Mindy2 |
G |
A |
9: 70,538,361 (GRCm39) |
R325* |
probably null |
Het |
| Mkrn1 |
A |
T |
6: 39,376,268 (GRCm39) |
M382K |
probably damaging |
Het |
| Mroh1 |
G |
T |
15: 76,330,709 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,383,892 (GRCm39) |
D1646E |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,524,450 (GRCm39) |
D145G |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,717,200 (GRCm39) |
L391* |
probably null |
Het |
| Or10ah1-ps1 |
A |
T |
5: 143,123,374 (GRCm39) |
N216K |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2w3b |
T |
C |
11: 58,623,742 (GRCm39) |
Y83C |
probably benign |
Het |
| Plekhm2 |
T |
A |
4: 141,355,295 (GRCm39) |
I938F |
probably benign |
Het |
| Pnma8a |
A |
T |
7: 16,695,392 (GRCm39) |
K416* |
probably null |
Het |
| Ppid |
T |
C |
3: 79,506,168 (GRCm39) |
S198P |
probably benign |
Het |
| Rabl6 |
G |
T |
2: 25,477,538 (GRCm39) |
P304Q |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 157,005,208 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
G |
T |
8: 106,345,560 (GRCm39) |
|
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,054,124 (GRCm39) |
L658Q |
probably damaging |
Het |
| Safb |
T |
A |
17: 56,908,228 (GRCm39) |
|
probably benign |
Het |
| Sf3b5 |
T |
C |
10: 12,884,497 (GRCm39) |
M44T |
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,686,536 (GRCm39) |
M419L |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,209,394 (GRCm39) |
D393G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,705,199 (GRCm39) |
D230G |
probably benign |
Het |
| Smc1b |
T |
C |
15: 84,997,016 (GRCm39) |
T535A |
probably damaging |
Het |
| Smg7 |
G |
C |
1: 152,721,334 (GRCm39) |
P626R |
probably damaging |
Het |
| Smu1 |
C |
T |
4: 40,755,722 (GRCm39) |
V48M |
probably benign |
Het |
| Spag17 |
T |
C |
3: 99,934,667 (GRCm39) |
Y650H |
possibly damaging |
Het |
| Spata1 |
C |
T |
3: 146,181,053 (GRCm39) |
V302I |
possibly damaging |
Het |
| Sptb |
G |
A |
12: 76,650,377 (GRCm39) |
A1780V |
probably damaging |
Het |
| Srrm2 |
G |
A |
17: 24,038,591 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
C |
6: 48,474,377 (GRCm39) |
N4933H |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,798 (GRCm39) |
I88T |
probably benign |
Het |
| Tgfa |
G |
T |
6: 86,247,072 (GRCm39) |
|
probably benign |
Het |
| Thsd1 |
T |
A |
8: 22,733,708 (GRCm39) |
C252S |
possibly damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,630 (GRCm39) |
H114L |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,498,414 (GRCm39) |
K808N |
possibly damaging |
Het |
| Trpm7 |
G |
T |
2: 126,639,713 (GRCm39) |
L1628M |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,561,081 (GRCm39) |
Y29107H |
probably damaging |
Het |
| Upb1 |
T |
C |
10: 75,273,999 (GRCm39) |
L342P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,829 (GRCm39) |
T117A |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,487,652 (GRCm39) |
D175G |
probably damaging |
Het |
| Vps35l |
A |
T |
7: 118,374,552 (GRCm39) |
I351F |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,930 (GRCm39) |
M1696R |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,041,856 (GRCm39) |
V289A |
possibly damaging |
Het |
| Zfyve26 |
A |
C |
12: 79,318,901 (GRCm39) |
F1146V |
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 |
|
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'- TTCTCCCAGAGGACAGGACACTAAC -3'
(R):5'- CTGAAGAACTCCATGTCACCAGGC -3'
Sequencing Primer
(F):5'- GACACTCAGTCTTGTCGAAGATG -3'
(R):5'- TGTCACCAGGCCACCAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation