Incidental Mutation 'R7880:Heg1'
| ID |
608716 |
| 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 |
045932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7880 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33539879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 280
(S280P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126532
AA Change: S280P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: S280P
| 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 |
unknown
Transcript: ENSMUST00000232568
AA Change: S183P
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
T |
A |
7: 133,511,691 (GRCm39) |
D703V |
possibly damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Akap13 |
A |
G |
7: 75,235,964 (GRCm39) |
T180A |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,423,087 (GRCm39) |
A993V |
probably benign |
Het |
| Asxl3 |
C |
T |
18: 22,655,208 (GRCm39) |
P1073S |
possibly damaging |
Het |
| Bmp3 |
T |
G |
5: 99,020,434 (GRCm39) |
S286A |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,326,116 (GRCm39) |
S1078F |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,915,182 (GRCm39) |
L799P |
probably benign |
Het |
| Chst13 |
C |
T |
6: 90,302,062 (GRCm39) |
R28H |
possibly damaging |
Het |
| CN725425 |
T |
A |
15: 91,130,308 (GRCm39) |
C390* |
probably null |
Het |
| Crabp1 |
C |
A |
9: 54,672,942 (GRCm39) |
C82* |
probably null |
Het |
| Cyp2b23 |
A |
C |
7: 26,372,559 (GRCm39) |
V352G |
probably damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,577,081 (GRCm39) |
V179E |
possibly damaging |
Het |
| Ect2l |
T |
C |
10: 18,012,702 (GRCm39) |
D839G |
possibly damaging |
Het |
| Espnl |
A |
T |
1: 91,272,488 (GRCm39) |
E616V |
possibly damaging |
Het |
| Fam50b |
C |
A |
13: 34,930,802 (GRCm39) |
Q93K |
probably benign |
Het |
| Focad |
C |
T |
4: 88,319,407 (GRCm39) |
R1539C |
unknown |
Het |
| Gm14443 |
T |
A |
2: 175,011,163 (GRCm39) |
I428L |
probably benign |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gramd1c |
C |
G |
16: 43,812,439 (GRCm39) |
A193P |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,173,939 (GRCm39) |
H54R |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,194,712 (GRCm39) |
I902F |
probably damaging |
Het |
| H2-T9 |
T |
A |
17: 36,438,761 (GRCm39) |
H210L |
possibly damaging |
Het |
| Herc1 |
G |
T |
9: 66,415,506 (GRCm39) |
R4827L |
probably damaging |
Het |
| Igsf21 |
A |
G |
4: 139,884,819 (GRCm39) |
C46R |
probably damaging |
Het |
| Kansl1 |
G |
T |
11: 104,314,979 (GRCm39) |
A353D |
probably damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,222,290 (GRCm39) |
Y311C |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 58,006,778 (GRCm39) |
I24T |
possibly damaging |
Het |
| Lpcat4 |
C |
A |
2: 112,070,376 (GRCm39) |
H30N |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,461,143 (GRCm39) |
I590V |
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,703,946 (GRCm39) |
I291M |
possibly damaging |
Het |
| Nsun6 |
A |
C |
2: 15,001,190 (GRCm39) |
C455W |
probably damaging |
Het |
| Or12e1 |
T |
A |
2: 87,022,434 (GRCm39) |
C134* |
probably null |
Het |
| Or4c3 |
A |
T |
2: 89,852,381 (GRCm39) |
F10I |
probably damaging |
Het |
| Or5ak22 |
G |
T |
2: 85,230,379 (GRCm39) |
S166Y |
possibly damaging |
Het |
| Or7g19 |
T |
G |
9: 18,856,024 (GRCm39) |
L27V |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,031,873 (GRCm39) |
I162T |
probably benign |
Het |
| Pex13 |
A |
T |
11: 23,599,369 (GRCm39) |
S381T |
probably benign |
Het |
| Ppil1 |
G |
A |
17: 29,480,762 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prrt4 |
T |
C |
6: 29,170,155 (GRCm39) |
I766V |
probably benign |
Het |
| Rab32 |
C |
T |
10: 10,422,159 (GRCm39) |
V187M |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,686,954 (GRCm39) |
I1022N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,191,132 (GRCm39) |
T953A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,431 (GRCm39) |
S157P |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,119,393 (GRCm39) |
R235G |
probably benign |
Het |
| Stx5a |
G |
A |
19: 8,719,692 (GRCm39) |
G19D |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,577,726 (GRCm39) |
R532* |
probably null |
Het |
| Tmpo |
T |
A |
10: 91,001,892 (GRCm39) |
K106* |
probably null |
Het |
| Trnt1 |
T |
C |
6: 106,746,517 (GRCm39) |
|
probably null |
Het |
| Vmn1r228 |
A |
T |
17: 20,996,672 (GRCm39) |
I282N |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,907,684 (GRCm39) |
|
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,468,718 (GRCm39) |
I51V |
unknown |
Het |
| Zfp787 |
A |
G |
7: 6,135,190 (GRCm39) |
F354L |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,794,332 (GRCm39) |
V111A |
probably benign |
Het |
| Zwint |
G |
T |
10: 72,492,924 (GRCm39) |
R182L |
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 |
|
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 |
|
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'- CCTCTAGTTGTGCCTGCATG -3'
(R):5'- TCCTTGAGTCCTTCACAGAGG -3'
Sequencing Primer
(F):5'- GTGCCTGCATGTATCAACACG -3'
(R):5'- TATACCAAGTCTGGAGTGCTCAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation