Incidental Mutation 'R7294:Heg1'
| ID |
566640 |
| 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 |
045399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7294 (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 33546859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 573
(S573P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: S573P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: S573P
| 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: ENSMUST00000152782
AA Change: S318P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: S318P
| 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: S549P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (49/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,650,541 (GRCm39) |
Y1216* |
probably null |
Het |
| Abca17 |
G |
A |
17: 24,539,983 (GRCm39) |
T415M |
not run |
Het |
| Adam1a |
G |
T |
5: 121,658,068 (GRCm39) |
C408* |
probably null |
Het |
| Adamts9 |
G |
A |
6: 92,871,270 (GRCm39) |
T603M |
probably damaging |
Het |
| Amdhd1 |
T |
C |
10: 93,370,301 (GRCm39) |
E179G |
probably benign |
Het |
| Bcan |
T |
C |
3: 87,902,831 (GRCm39) |
T316A |
possibly damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C5ar1 |
T |
C |
7: 15,982,950 (GRCm39) |
I23M |
probably benign |
Het |
| Cd109 |
A |
T |
9: 78,619,917 (GRCm39) |
E1386D |
probably damaging |
Het |
| Cdcp1 |
C |
T |
9: 123,006,986 (GRCm39) |
C587Y |
probably benign |
Het |
| Cdh22 |
A |
C |
2: 164,984,013 (GRCm39) |
V413G |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,225,256 (GRCm39) |
|
probably benign |
Het |
| Col2a1 |
A |
G |
15: 97,885,168 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
T |
1: 90,756,005 (GRCm39) |
Y95N |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,783,782 (GRCm39) |
S178P |
possibly damaging |
Het |
| Fhod3 |
A |
G |
18: 25,266,037 (GRCm39) |
E1575G |
probably damaging |
Het |
| Gfpt2 |
C |
T |
11: 49,709,435 (GRCm39) |
R209* |
probably null |
Het |
| Hinfp |
A |
G |
9: 44,210,567 (GRCm39) |
C152R |
probably damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,211 (GRCm39) |
T38I |
probably benign |
Het |
| Jakmip1 |
T |
C |
5: 37,274,804 (GRCm39) |
F441L |
possibly damaging |
Het |
| Kcnj5 |
A |
C |
9: 32,234,045 (GRCm39) |
L90R |
probably damaging |
Het |
| Kpna4 |
A |
C |
3: 68,999,956 (GRCm39) |
|
probably null |
Het |
| Krt15 |
T |
A |
11: 100,022,848 (GRCm39) |
I456F |
possibly damaging |
Het |
| Leprotl1 |
A |
T |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
T |
16: 32,576,835 (GRCm39) |
T42S |
possibly damaging |
Het |
| Naa80 |
T |
G |
9: 107,460,182 (GRCm39) |
F26V |
possibly damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,852,578 (GRCm39) |
T419A |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or4c12 |
A |
C |
2: 89,774,068 (GRCm39) |
Y130* |
probably null |
Het |
| Or52b3 |
T |
A |
7: 102,204,160 (GRCm39) |
I223N |
probably damaging |
Het |
| Pax6 |
T |
A |
2: 105,515,246 (GRCm39) |
C66* |
probably null |
Het |
| Pde10a |
A |
T |
17: 8,975,853 (GRCm39) |
N53Y |
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,342,312 (GRCm39) |
N711S |
probably benign |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
A |
G |
2: 65,302,685 (GRCm39) |
S1254P |
probably damaging |
Het |
| Slc26a1 |
G |
T |
5: 108,821,698 (GRCm39) |
R80S |
possibly damaging |
Het |
| Slc2a4 |
T |
C |
11: 69,836,225 (GRCm39) |
D262G |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,163 (GRCm39) |
S226R |
probably benign |
Het |
| Srsf4 |
A |
G |
4: 131,627,772 (GRCm39) |
S289G |
unknown |
Het |
| Stil |
T |
C |
4: 114,864,480 (GRCm39) |
V127A |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,047,483 (GRCm39) |
|
probably null |
Het |
| Tbc1d22a |
T |
A |
15: 86,196,036 (GRCm39) |
Y336N |
possibly damaging |
Het |
| Tbc1d8 |
C |
T |
1: 39,445,843 (GRCm39) |
G116E |
probably damaging |
Het |
| Thrb |
A |
G |
14: 17,826,963 (GRCm38) |
|
probably benign |
Het |
| Timd5 |
T |
A |
11: 46,426,439 (GRCm39) |
I182K |
probably benign |
Het |
| Tln1 |
G |
T |
4: 43,534,399 (GRCm39) |
H2253Q |
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,893,928 (GRCm39) |
N158K |
possibly damaging |
Het |
| Toporsl |
A |
C |
4: 52,611,903 (GRCm39) |
T599P |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,279,638 (GRCm39) |
R256C |
probably damaging |
Het |
| Triobp |
C |
T |
15: 78,858,176 (GRCm39) |
A1259V |
probably damaging |
Het |
| Zfp40 |
A |
G |
17: 23,395,411 (GRCm39) |
I392T |
possibly 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 |
|
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 |
|
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'- GCCCAGTGCTTGTTTCGAAG -3'
(R):5'- GGTCCTCAACAGGTTTGGTAC -3'
Sequencing Primer
(F):5'- CGGACTTAGCTACACTCGAG -3'
(R):5'- GTTTGGTACCGGTATCAAGAACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation