Incidental Mutation 'R7405:Heg1'
ID |
574541 |
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 |
045376-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R7405 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33583819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 34
(K34E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000128105]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
AlphaFold |
E9Q7X6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: K1233E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119790 Gene: ENSMUSG00000075254 AA Change: K1233E
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 |
possibly damaging
Transcript: ENSMUST00000128105
AA Change: K34E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152782
AA Change: K978E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123686 Gene: ENSMUSG00000075254 AA Change: K978E
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 |
probably damaging
Transcript: ENSMUST00000232568
AA Change: K1209E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,220,649 (GRCm39) |
V383L |
probably damaging |
Het |
4930507D05Rik |
C |
A |
10: 62,285,563 (GRCm39) |
H96N |
unknown |
Het |
5730480H06Rik |
T |
C |
5: 48,545,458 (GRCm39) |
I235T |
possibly damaging |
Het |
Abcb11 |
A |
G |
2: 69,117,963 (GRCm39) |
Y472H |
probably damaging |
Het |
Adam39 |
A |
T |
8: 41,277,659 (GRCm39) |
I17L |
probably benign |
Het |
Aire |
T |
C |
10: 77,870,447 (GRCm39) |
H458R |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,577,734 (GRCm39) |
D31G |
probably benign |
Het |
Atad2b |
T |
A |
12: 4,993,232 (GRCm39) |
H250Q |
probably benign |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Borcs5 |
C |
A |
6: 134,662,945 (GRCm39) |
T74N |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,407,586 (GRCm39) |
T292I |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,939,335 (GRCm39) |
V55M |
possibly damaging |
Het |
Cfap107 |
T |
C |
4: 144,146,323 (GRCm39) |
N110S |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,921 (GRCm39) |
F462S |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,700,789 (GRCm39) |
S153G |
probably benign |
Het |
Ddo |
T |
C |
10: 40,523,993 (GRCm39) |
C328R |
possibly damaging |
Het |
Ddr1 |
A |
G |
17: 36,000,992 (GRCm39) |
V251A |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,221,986 (GRCm39) |
F475L |
probably damaging |
Het |
Dkk4 |
G |
A |
8: 23,115,859 (GRCm39) |
V99M |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,600,654 (GRCm39) |
A1938V |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,081,238 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
T |
A |
10: 85,880,445 (GRCm39) |
Y377N |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,136 (GRCm39) |
I299V |
possibly damaging |
Het |
Fkbp10 |
C |
T |
11: 100,306,707 (GRCm39) |
A33V |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,850 (GRCm39) |
T87A |
probably damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Golga3 |
A |
T |
5: 110,356,312 (GRCm39) |
I1000F |
probably damaging |
Het |
Grid2ip |
T |
C |
5: 143,366,199 (GRCm39) |
I563T |
probably benign |
Het |
Gsx1 |
T |
C |
5: 147,125,943 (GRCm39) |
S82P |
possibly damaging |
Het |
Kank1 |
T |
A |
19: 25,387,683 (GRCm39) |
L452* |
probably null |
Het |
Lce1k |
A |
T |
3: 92,714,181 (GRCm39) |
M1K |
probably null |
Het |
Lcmt2 |
A |
G |
2: 120,969,868 (GRCm39) |
I185T |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,417,620 (GRCm39) |
D1046G |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,987 (GRCm39) |
Y1994N |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,238,815 (GRCm39) |
D496E |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,321 (GRCm39) |
S925F |
possibly damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,360 (GRCm39) |
G88D |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,358,648 (GRCm39) |
V783A |
probably damaging |
Het |
Mybpc2 |
A |
T |
7: 44,156,618 (GRCm39) |
W778R |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,712,687 (GRCm39) |
L2130P |
possibly damaging |
Het |
Ndst4 |
A |
G |
3: 125,476,865 (GRCm39) |
N30S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,162,253 (GRCm39) |
V299A |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,606,320 (GRCm39) |
D474G |
probably benign |
Het |
Or10ag56 |
A |
C |
2: 87,139,339 (GRCm39) |
I89L |
probably benign |
Het |
Or10w1 |
T |
C |
19: 13,632,246 (GRCm39) |
V151A |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,504,899 (GRCm39) |
F370I |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,531 (GRCm39) |
V164A |
probably benign |
Het |
Pgap2 |
T |
C |
7: 101,880,595 (GRCm39) |
V41A |
probably benign |
Het |
Plekhh1 |
C |
T |
12: 79,101,821 (GRCm39) |
T297I |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,173,254 (GRCm39) |
Y1226N |
probably benign |
Het |
Polr3b |
A |
G |
10: 84,520,043 (GRCm39) |
D653G |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,104,486 (GRCm39) |
F289L |
possibly damaging |
Het |
Prickle2 |
A |
G |
6: 92,435,524 (GRCm39) |
S82P |
probably damaging |
Het |
Ptger2 |
T |
A |
14: 45,226,531 (GRCm39) |
V37D |
probably damaging |
Het |
Rasa2 |
G |
A |
9: 96,448,080 (GRCm39) |
P526S |
probably benign |
Het |
Rbm47 |
A |
T |
5: 66,183,838 (GRCm39) |
I255N |
probably damaging |
Het |
Sez6 |
A |
T |
11: 77,853,717 (GRCm39) |
T296S |
probably benign |
Het |
Slc2a9 |
T |
A |
5: 38,549,167 (GRCm39) |
I316F |
probably damaging |
Het |
Slc41a1 |
T |
A |
1: 131,766,884 (GRCm39) |
V134D |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,604,161 (GRCm39) |
S2T |
probably benign |
Het |
Slc9a4 |
C |
T |
1: 40,640,086 (GRCm39) |
R293C |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Suco |
A |
G |
1: 161,655,783 (GRCm39) |
F1039L |
possibly damaging |
Het |
Sycp1 |
A |
G |
3: 102,832,543 (GRCm39) |
Y208H |
possibly damaging |
Het |
Tpr |
T |
C |
1: 150,317,878 (GRCm39) |
S2129P |
probably benign |
Het |
Trim34b |
T |
A |
7: 103,985,690 (GRCm39) |
S442T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,573,690 (GRCm39) |
Y25734* |
probably null |
Het |
Uchl5 |
C |
T |
1: 143,675,752 (GRCm39) |
Q276* |
probably null |
Het |
Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
Yeats2 |
T |
A |
16: 20,041,663 (GRCm39) |
D1184E |
probably damaging |
Het |
Zfat |
G |
A |
15: 68,056,334 (GRCm39) |
R241W |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,477,968 (GRCm39) |
Y48* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,118 (GRCm39) |
Q455R |
unknown |
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 |
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 |
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'- TCCAGGGTCATCTTCATGCC -3'
(R):5'- ACCGAGTAGTACACGTCTGTC -3'
Sequencing Primer
(F):5'- TTTTGAATGGCAGAGGGGAC -3'
(R):5'- AGTAGTACACGTCTGTCATCTGCAG -3'
|
Posted On |
2019-09-13 |