Incidental Mutation 'R2068:Heg1'
| ID |
226889 |
| 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 |
040073-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R2068 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33547960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 916
(T916A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126532
AA Change: T940A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: T940A
| 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 |
noncoding transcript
Transcript: ENSMUST00000132797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152782
AA Change: T685A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: T685A
| 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: ENSMUST00000154863
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232568
AA Change: T916A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
A |
X: 66,964,308 (GRCm39) |
I184L |
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,904,303 (GRCm39) |
C162* |
probably null |
Het |
| Akr1c19 |
A |
T |
13: 4,288,391 (GRCm39) |
|
probably null |
Het |
| Akt3 |
A |
G |
1: 176,930,551 (GRCm39) |
S136P |
possibly damaging |
Het |
| Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
| Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
| Bsn |
T |
G |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
| Bsn |
T |
A |
9: 108,003,749 (GRCm39) |
M219L |
possibly damaging |
Het |
| Btnl9 |
T |
C |
11: 49,060,390 (GRCm39) |
T453A |
probably damaging |
Het |
| C6 |
G |
T |
15: 4,820,552 (GRCm39) |
C521F |
probably damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,449,823 (GRCm39) |
H156Q |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,666 (GRCm39) |
R647* |
probably null |
Het |
| Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
| Cmya5 |
T |
A |
13: 93,227,032 (GRCm39) |
K2685N |
possibly damaging |
Het |
| Cnksr2 |
A |
C |
X: 156,728,302 (GRCm39) |
S224R |
possibly damaging |
Het |
| Cntn1 |
T |
C |
15: 92,215,943 (GRCm39) |
V992A |
possibly damaging |
Het |
| Dapk1 |
G |
A |
13: 60,899,022 (GRCm39) |
D831N |
probably damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,798 (GRCm39) |
I426M |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 72,998,165 (GRCm39) |
Y4034H |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Endov |
T |
C |
11: 119,390,408 (GRCm39) |
F12S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,499,172 (GRCm39) |
W239R |
probably benign |
Het |
| Fance |
T |
C |
17: 28,539,799 (GRCm39) |
F83S |
possibly damaging |
Het |
| Fn1 |
A |
G |
1: 71,639,598 (GRCm39) |
V1731A |
probably damaging |
Het |
| Gak |
G |
T |
5: 108,718,091 (GRCm39) |
T1244K |
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,253,276 (GRCm39) |
I208N |
probably damaging |
Het |
| Gm9830 |
A |
T |
9: 44,375,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9837 |
T |
A |
11: 53,361,092 (GRCm39) |
|
probably benign |
Het |
| Gtf2f2 |
A |
G |
14: 76,155,136 (GRCm39) |
S142P |
possibly damaging |
Het |
| Hdac3 |
C |
A |
18: 38,076,569 (GRCm39) |
G257V |
probably damaging |
Het |
| Herc2 |
G |
T |
7: 55,782,245 (GRCm39) |
G1311C |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
| Il2rg |
A |
G |
X: 100,311,416 (GRCm39) |
L57P |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,575 (GRCm39) |
K242E |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,317,050 (GRCm39) |
M768I |
probably benign |
Het |
| Klrg2 |
G |
A |
6: 38,613,928 (GRCm39) |
T25I |
probably benign |
Het |
| Lcn5 |
G |
A |
2: 25,548,053 (GRCm39) |
V21M |
probably damaging |
Het |
| Liat1 |
T |
C |
11: 75,891,077 (GRCm39) |
S64P |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,392,403 (GRCm39) |
T490A |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,995 (GRCm39) |
S441T |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,254,067 (GRCm39) |
R1W |
probably null |
Het |
| Mpp4 |
G |
A |
1: 59,182,941 (GRCm39) |
P322L |
possibly damaging |
Het |
| Mpzl2 |
G |
A |
9: 44,955,169 (GRCm39) |
|
probably null |
Het |
| Naf1 |
A |
G |
8: 67,340,432 (GRCm39) |
D414G |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,354,482 (GRCm39) |
C1748R |
probably benign |
Het |
| Nup133 |
C |
A |
8: 124,641,314 (GRCm39) |
D869Y |
probably damaging |
Het |
| Oasl2 |
A |
C |
5: 115,049,298 (GRCm39) |
D466A |
probably benign |
Het |
| Opa3 |
T |
C |
7: 18,978,739 (GRCm39) |
I68T |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
| Or2ag1 |
T |
A |
7: 106,313,373 (GRCm39) |
R172W |
probably benign |
Het |
| Or2d3c |
T |
G |
7: 106,526,162 (GRCm39) |
Y168S |
probably damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,547 (GRCm39) |
Y63C |
probably damaging |
Het |
| Or8g37 |
T |
C |
9: 39,731,846 (GRCm39) |
F304L |
probably benign |
Het |
| Pcdh8 |
A |
T |
14: 80,005,651 (GRCm39) |
S912R |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,660 (GRCm39) |
E1002G |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,972,126 (GRCm39) |
L768* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,494,551 (GRCm39) |
S22P |
possibly damaging |
Het |
| Plxnb3 |
T |
A |
X: 72,815,357 (GRCm39) |
Y1845* |
probably null |
Het |
| Pramel11 |
T |
C |
4: 143,623,482 (GRCm39) |
M231V |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,844,870 (GRCm39) |
Y172F |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,501,745 (GRCm39) |
T845A |
probably benign |
Het |
| Rad21l |
T |
C |
2: 151,509,927 (GRCm39) |
H58R |
probably damaging |
Het |
| Rgma |
A |
C |
7: 73,059,379 (GRCm39) |
D161A |
probably damaging |
Het |
| Scai |
T |
C |
2: 39,013,025 (GRCm39) |
Y135C |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,582,417 (GRCm39) |
H1588Q |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,472,087 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
A |
G |
8: 95,072,456 (GRCm39) |
D658G |
probably damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,874,128 (GRCm39) |
S62G |
probably damaging |
Het |
| Spata13 |
GTTAGGCT |
GT |
14: 60,998,320 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,910,627 (GRCm39) |
I649V |
probably damaging |
Het |
| Thbs1 |
C |
T |
2: 117,954,018 (GRCm39) |
Q1090* |
probably null |
Het |
| Tjp2 |
C |
A |
19: 24,099,687 (GRCm39) |
R400L |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,427,113 (GRCm39) |
Y769* |
probably null |
Het |
| Trmt5 |
A |
T |
12: 73,331,444 (GRCm39) |
|
probably null |
Het |
| Troap |
T |
C |
15: 98,980,344 (GRCm39) |
L508P |
probably benign |
Het |
| Ubac2 |
T |
A |
14: 122,145,691 (GRCm39) |
Y116* |
probably null |
Het |
| Ugt2b36 |
T |
C |
5: 87,240,100 (GRCm39) |
E95G |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,878,905 (GRCm39) |
Y74C |
probably damaging |
Het |
| Usp36 |
T |
C |
11: 118,165,844 (GRCm39) |
T160A |
possibly damaging |
Het |
| Usp54 |
G |
T |
14: 20,627,273 (GRCm39) |
P462T |
probably damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,048 (GRCm39) |
V125A |
possibly damaging |
Het |
| Vps11 |
A |
G |
9: 44,269,613 (GRCm39) |
S213P |
probably damaging |
Het |
| Zfp668 |
C |
T |
7: 127,465,837 (GRCm39) |
G449D |
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 |
|
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'- TACGGATCCTACCACTCAGC -3'
(R):5'- GAGACAATTAGGCCCATACTGC -3'
Sequencing Primer
(F):5'- TTCAACCACGTCAGCAGGAG -3'
(R):5'- GGCCCATACTGCCCATATTTCATG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation