Incidental Mutation 'R1720:Heg1'
| ID |
191416 |
| 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 |
039752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R1720 (G1)
|
| Quality Score |
107 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33527549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 170
(A170T)
|
| 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: A170T
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: A170T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
G |
12: 84,122,655 (GRCm39) |
D413G |
probably benign |
Het |
| Actr5 |
G |
T |
2: 158,478,057 (GRCm39) |
V476F |
possibly damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,637,125 (GRCm39) |
D426N |
probably benign |
Het |
| Adra1a |
T |
C |
14: 66,875,727 (GRCm39) |
L234P |
probably damaging |
Het |
| Akap9 |
G |
T |
5: 4,022,791 (GRCm39) |
V1207L |
possibly damaging |
Het |
| Anapc2 |
A |
G |
2: 25,164,724 (GRCm39) |
D36G |
probably benign |
Het |
| Apol8 |
A |
G |
15: 77,633,566 (GRCm39) |
S337P |
possibly damaging |
Het |
| Asxl3 |
A |
T |
18: 22,585,492 (GRCm39) |
D139V |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,227,746 (GRCm39) |
V1037E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,231 (GRCm39) |
F284L |
probably benign |
Het |
| Bltp3b |
T |
C |
10: 89,618,448 (GRCm39) |
V141A |
probably damaging |
Het |
| C1qtnf6 |
A |
T |
15: 78,411,640 (GRCm39) |
F40Y |
probably damaging |
Het |
| Caskin2 |
G |
A |
11: 115,693,608 (GRCm39) |
H508Y |
probably damaging |
Het |
| Cass4 |
A |
T |
2: 172,269,654 (GRCm39) |
I579F |
probably damaging |
Het |
| Cdk15 |
A |
G |
1: 59,328,917 (GRCm39) |
Y277C |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,105,956 (GRCm39) |
D947N |
probably damaging |
Het |
| Clint1 |
T |
A |
11: 45,778,237 (GRCm39) |
I126K |
probably damaging |
Het |
| Col6a4 |
C |
T |
9: 105,903,671 (GRCm39) |
G1640E |
probably damaging |
Het |
| Ddx10 |
T |
C |
9: 53,149,371 (GRCm39) |
K119E |
probably damaging |
Het |
| Dennd1a |
G |
A |
2: 37,690,209 (GRCm39) |
Q964* |
probably null |
Het |
| Dnhd1 |
T |
C |
7: 105,343,035 (GRCm39) |
F1460L |
probably benign |
Het |
| Edc3 |
T |
C |
9: 57,655,462 (GRCm39) |
|
probably null |
Het |
| Edn1 |
A |
G |
13: 42,458,826 (GRCm39) |
E163G |
probably benign |
Het |
| Efl1 |
A |
T |
7: 82,332,929 (GRCm39) |
D317V |
possibly damaging |
Het |
| Elapor2 |
T |
G |
5: 9,478,407 (GRCm39) |
C424G |
probably damaging |
Het |
| F2 |
A |
T |
2: 91,459,175 (GRCm39) |
Y430* |
probably null |
Het |
| Faap100 |
C |
T |
11: 120,265,407 (GRCm39) |
V490M |
probably damaging |
Het |
| Fuz |
G |
T |
7: 44,546,415 (GRCm39) |
G104W |
probably damaging |
Het |
| Greb1l |
C |
A |
18: 10,553,848 (GRCm39) |
H1616Q |
probably benign |
Het |
| Grm1 |
G |
T |
10: 10,622,538 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
G |
T |
7: 98,126,437 (GRCm39) |
A1098S |
probably benign |
Het |
| H1f0 |
T |
A |
15: 78,913,195 (GRCm39) |
S92T |
possibly damaging |
Het |
| Hbb-bt |
T |
A |
7: 103,463,083 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,049 (GRCm39) |
K578* |
probably null |
Het |
| Ikbke |
A |
G |
1: 131,186,947 (GRCm39) |
S582P |
possibly damaging |
Het |
| Itga6 |
T |
A |
2: 71,650,510 (GRCm39) |
F185L |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,906,099 (GRCm39) |
D396E |
probably benign |
Het |
| Kif5b |
T |
C |
18: 6,213,427 (GRCm39) |
H687R |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,504,182 (GRCm39) |
N3709D |
probably benign |
Het |
| Lipf |
A |
T |
19: 33,943,066 (GRCm39) |
K125* |
probably null |
Het |
| Lrif1 |
A |
T |
3: 106,640,452 (GRCm39) |
E512D |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,345,420 (GRCm39) |
Y142* |
probably null |
Het |
| Med13l |
A |
G |
5: 118,880,060 (GRCm39) |
T1051A |
probably damaging |
Het |
| Mpp3 |
T |
A |
11: 101,916,582 (GRCm39) |
M1L |
possibly damaging |
Het |
| Mro |
C |
T |
18: 74,009,806 (GRCm39) |
S159L |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,913,145 (GRCm39) |
D367E |
probably damaging |
Het |
| Myo1g |
T |
C |
11: 6,462,490 (GRCm39) |
Q547R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,097,733 (GRCm39) |
I902M |
probably benign |
Het |
| Nsd1 |
G |
A |
13: 55,394,711 (GRCm39) |
D771N |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,219,486 (GRCm39) |
I284V |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,265,664 (GRCm39) |
N63S |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,494 (GRCm39) |
S216P |
probably damaging |
Het |
| Or4e5 |
A |
C |
14: 52,728,051 (GRCm39) |
Y40* |
probably null |
Het |
| Or8b48 |
C |
T |
9: 38,492,585 (GRCm39) |
T4I |
probably benign |
Het |
| Penk |
A |
G |
4: 4,134,240 (GRCm39) |
Y136H |
probably damaging |
Het |
| Prdm6 |
C |
T |
18: 53,673,272 (GRCm39) |
S144L |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,522,155 (GRCm39) |
I599F |
probably damaging |
Het |
| Racgap1 |
A |
T |
15: 99,526,650 (GRCm39) |
C304* |
probably null |
Het |
| Rbp3 |
T |
C |
14: 33,678,866 (GRCm39) |
V938A |
probably benign |
Het |
| Rpp30 |
A |
G |
19: 36,071,827 (GRCm39) |
K132E |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,966,564 (GRCm39) |
R101* |
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,801,295 (GRCm39) |
V823E |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,075,886 (GRCm39) |
D146E |
probably damaging |
Het |
| Sdr9c7 |
T |
A |
10: 127,738,127 (GRCm39) |
V135E |
probably damaging |
Het |
| Serpinb12 |
A |
G |
1: 106,874,344 (GRCm39) |
D23G |
probably damaging |
Het |
| Serpinf1 |
T |
A |
11: 75,304,807 (GRCm39) |
T185S |
probably null |
Het |
| Slc23a1 |
A |
C |
18: 35,758,904 (GRCm39) |
C96G |
possibly damaging |
Het |
| Slc5a4a |
C |
T |
10: 76,025,103 (GRCm39) |
|
probably null |
Het |
| Spmap1 |
A |
G |
11: 97,662,435 (GRCm39) |
F146L |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,661,623 (GRCm39) |
L936Q |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,606 (GRCm39) |
Y224C |
probably damaging |
Het |
| Tpm4 |
T |
A |
8: 72,898,598 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,560,414 (GRCm39) |
E29329G |
probably damaging |
Het |
| Txn1 |
T |
C |
4: 57,943,922 (GRCm39) |
I101V |
probably benign |
Het |
| Ube2o |
A |
T |
11: 116,435,433 (GRCm39) |
C452S |
probably benign |
Het |
| Uxs1 |
A |
T |
1: 43,804,081 (GRCm39) |
I278N |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,256,519 (GRCm39) |
F663L |
probably damaging |
Het |
| Wdfy3 |
CG |
C |
5: 102,074,391 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
A |
G |
1: 133,549,439 (GRCm39) |
S741P |
probably damaging |
Het |
| Zdbf2 |
G |
A |
1: 63,342,436 (GRCm39) |
V272I |
possibly damaging |
Het |
| Zdhhc24 |
A |
G |
19: 4,928,979 (GRCm39) |
N68S |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,885,986 (GRCm39) |
L858* |
probably null |
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 |
|
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'- ACCCCATATAGGATGCAGTCCCTC -3'
(R):5'- TGTCTAATGCACCCCAATGCAGAAC -3'
Sequencing Primer
(F):5'- GTCAAGAGGACCATTCAGGTTCC -3'
(R):5'- acaaacaaacaaacaaacaaacaaac -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation