Incidental Mutation 'R7091:Heg1'
ID |
550235 |
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 |
045185-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R7091 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33547090 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 650
(S650P)
|
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: S650P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000119790 Gene: ENSMUSG00000075254 AA Change: S650P
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
AA Change: S395P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000123686 Gene: ENSMUSG00000075254 AA Change: S395P
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: S626P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (56/57) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
C |
3: 40,871,173 (GRCm39) |
I111L |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,548,679 (GRCm39) |
D11G |
probably benign |
Het |
Ank2 |
G |
T |
3: 126,817,000 (GRCm39) |
Q472K |
probably damaging |
Het |
Apbb2 |
A |
T |
5: 66,470,677 (GRCm39) |
L520H |
probably damaging |
Het |
Baat |
T |
C |
4: 49,499,692 (GRCm39) |
K205E |
probably benign |
Het |
Brca1 |
T |
A |
11: 101,417,253 (GRCm39) |
M294L |
probably benign |
Het |
Capn1 |
A |
G |
19: 6,041,586 (GRCm39) |
M641T |
possibly damaging |
Het |
Cluap1 |
T |
A |
16: 3,758,670 (GRCm39) |
D377E |
probably benign |
Het |
Col6a2 |
C |
T |
10: 76,450,925 (GRCm39) |
V39I |
unknown |
Het |
Crybg3 |
T |
A |
16: 59,377,531 (GRCm39) |
D1241V |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,893,206 (GRCm39) |
K3380R |
probably benign |
Het |
Eml5 |
T |
C |
12: 98,768,733 (GRCm39) |
I1400M |
probably benign |
Het |
Fancd2 |
A |
G |
6: 113,522,062 (GRCm39) |
D219G |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,856,535 (GRCm39) |
S1973G |
probably benign |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
G3bp1 |
T |
A |
11: 55,387,047 (GRCm39) |
H271Q |
possibly damaging |
Het |
Glce |
A |
G |
9: 61,967,870 (GRCm39) |
V427A |
probably damaging |
Het |
Gm5141 |
T |
C |
13: 62,921,778 (GRCm39) |
T464A |
possibly damaging |
Het |
Gulp1 |
T |
A |
1: 44,805,294 (GRCm39) |
F128I |
probably damaging |
Het |
H2-T13 |
T |
C |
17: 36,394,833 (GRCm39) |
E30G |
possibly damaging |
Het |
Hcrtr1 |
A |
C |
4: 130,024,707 (GRCm39) |
L393W |
probably damaging |
Het |
Hspa4l |
T |
A |
3: 40,736,024 (GRCm39) |
N569K |
probably benign |
Het |
Ifi206 |
A |
G |
1: 173,301,441 (GRCm39) |
F746L |
unknown |
Het |
Ivl |
T |
C |
3: 92,479,549 (GRCm39) |
D172G |
possibly damaging |
Het |
Lrp5 |
A |
T |
19: 3,680,184 (GRCm39) |
D433E |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,745,210 (GRCm39) |
S1826P |
possibly damaging |
Het |
Ms4a18 |
A |
T |
19: 10,986,092 (GRCm39) |
L206M |
probably damaging |
Het |
Msln |
A |
T |
17: 25,969,054 (GRCm39) |
C444S |
probably damaging |
Het |
Mta1 |
A |
G |
12: 113,100,022 (GRCm39) |
D644G |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
Naa15 |
T |
C |
3: 51,366,177 (GRCm39) |
|
probably null |
Het |
Nadk |
A |
G |
4: 155,672,215 (GRCm39) |
H302R |
probably benign |
Het |
Neb |
T |
A |
2: 52,146,124 (GRCm39) |
N15I |
|
Het |
Nup153 |
A |
T |
13: 46,837,404 (GRCm39) |
S1273T |
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,226,243 (GRCm39) |
I763T |
probably damaging |
Het |
Or4b13 |
T |
C |
2: 90,082,807 (GRCm39) |
Y175C |
probably damaging |
Het |
Oxsr1 |
T |
C |
9: 119,113,727 (GRCm39) |
I107V |
probably benign |
Het |
Prmt5 |
A |
G |
14: 54,748,799 (GRCm39) |
|
probably null |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ranbp6 |
A |
G |
19: 29,790,116 (GRCm39) |
S79P |
probably damaging |
Het |
Reln |
T |
C |
5: 22,104,027 (GRCm39) |
I3315V |
probably null |
Het |
Rnf223 |
T |
C |
4: 156,217,156 (GRCm39) |
V177A |
probably benign |
Het |
Slc20a1 |
C |
T |
2: 129,050,192 (GRCm39) |
T450M |
possibly damaging |
Het |
Smg5 |
C |
T |
3: 88,258,654 (GRCm39) |
P542S |
probably benign |
Het |
Sorl1 |
T |
A |
9: 41,913,930 (GRCm39) |
Q1333L |
probably benign |
Het |
Spag5 |
T |
A |
11: 78,204,017 (GRCm39) |
|
probably null |
Het |
Spopfm1 |
T |
C |
3: 94,173,945 (GRCm39) |
F314L |
probably damaging |
Het |
Tdp2 |
T |
A |
13: 25,022,207 (GRCm39) |
F209I |
probably damaging |
Het |
Tgm4 |
C |
A |
9: 122,869,525 (GRCm39) |
L35M |
probably damaging |
Het |
Tma7 |
A |
G |
9: 108,911,580 (GRCm39) |
|
probably benign |
Het |
Tmprss4 |
A |
T |
9: 45,095,571 (GRCm39) |
V91D |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,223,268 (GRCm39) |
M39K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,543,912 (GRCm39) |
T33025S |
probably benign |
Het |
Tut1 |
A |
G |
19: 8,943,175 (GRCm39) |
H754R |
probably benign |
Het |
Vmn2r27 |
T |
G |
6: 124,200,904 (GRCm39) |
Q351P |
possibly damaging |
Het |
Wee2 |
G |
T |
6: 40,438,936 (GRCm39) |
G353V |
probably benign |
Het |
Zfp747l1 |
C |
A |
7: 126,983,534 (GRCm39) |
A523S |
possibly damaging |
Het |
Zfp879 |
T |
A |
11: 50,724,222 (GRCm39) |
H278L |
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 |
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 |
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'- CTAAACAGAGTAGCATGTCCTCCG -3'
(R):5'- ACTGAAGTCACACGTGGCTC -3'
Sequencing Primer
(F):5'- TAGCATGTCCTCCGACGATGAC -3'
(R):5'- AAGTCACACGTGGCTCCCTTG -3'
|
Posted On |
2019-05-15 |