Incidental Mutation 'R7638:Heg1'
| ID |
590100 |
| 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 |
045696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33547867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 909
(T909A)
|
| 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: T909A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: T909A
| 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 damaging
Transcript: ENSMUST00000152782
AA Change: T654A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: T654A
| 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 |
possibly damaging
Transcript: ENSMUST00000232568
AA Change: T885A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (71/71) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abo |
T |
G |
2: 26,733,855 (GRCm39) |
T115P |
probably damaging |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Amdhd1 |
A |
T |
10: 93,370,360 (GRCm39) |
Y159* |
probably null |
Het |
| Camp |
T |
C |
9: 109,677,461 (GRCm39) |
E124G |
|
Het |
| Casq2 |
A |
G |
3: 101,994,016 (GRCm39) |
E21G |
possibly damaging |
Het |
| Cbln1 |
A |
T |
8: 88,198,357 (GRCm39) |
F116Y |
probably damaging |
Het |
| Cklf |
A |
T |
8: 104,989,996 (GRCm39) |
K143* |
probably null |
Het |
| Clca3a1 |
A |
G |
3: 144,457,723 (GRCm39) |
I387T |
probably damaging |
Het |
| Cndp1 |
T |
A |
18: 84,654,174 (GRCm39) |
D130V |
probably benign |
Het |
| Cyp4a12a |
T |
A |
4: 115,184,670 (GRCm39) |
M317K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,365,078 (GRCm39) |
I138K |
unknown |
Het |
| Eapp |
A |
G |
12: 54,720,508 (GRCm39) |
S236P |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,927,625 (GRCm39) |
M4798K |
probably benign |
Het |
| Efnb3 |
T |
C |
11: 69,448,046 (GRCm39) |
H132R |
possibly damaging |
Het |
| Fam243 |
A |
G |
16: 92,117,805 (GRCm39) |
V161A |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,238,208 (GRCm39) |
N596K |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,279,484 (GRCm39) |
W134R |
probably damaging |
Het |
| Gga2 |
A |
G |
7: 121,603,157 (GRCm39) |
S180P |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,353,694 (GRCm39) |
T911A |
probably benign |
Het |
| Gstm1 |
C |
T |
3: 107,921,866 (GRCm39) |
|
probably null |
Het |
| Herc2 |
T |
C |
7: 55,807,186 (GRCm39) |
S2455P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,870,273 (GRCm39) |
R4349W |
probably damaging |
Het |
| Hivep2 |
T |
G |
10: 14,019,595 (GRCm39) |
M2122R |
possibly damaging |
Het |
| Itga10 |
T |
A |
3: 96,564,707 (GRCm39) |
|
probably null |
Het |
| Kbtbd13 |
G |
T |
9: 65,298,605 (GRCm39) |
C110* |
probably null |
Het |
| Krt78 |
T |
C |
15: 101,859,318 (GRCm39) |
E293G |
probably damaging |
Het |
| Lgals3bp |
C |
T |
11: 118,288,995 (GRCm39) |
V110M |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,307,352 (GRCm39) |
|
probably null |
Het |
| Lrrc14 |
A |
G |
15: 76,598,173 (GRCm39) |
D301G |
probably benign |
Het |
| Lrrc71 |
C |
A |
3: 87,649,113 (GRCm39) |
G352W |
probably damaging |
Het |
| Map3k9 |
A |
G |
12: 81,771,506 (GRCm39) |
V694A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,989,325 (GRCm39) |
S162P |
probably damaging |
Het |
| Megf11 |
C |
A |
9: 64,586,535 (GRCm39) |
N422K |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 151,982,324 (GRCm39) |
S584N |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,524,141 (GRCm39) |
Y403H |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,167,583 (GRCm39) |
A204V |
possibly damaging |
Het |
| Mta3 |
A |
T |
17: 84,107,572 (GRCm39) |
Y262F |
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,598,794 (GRCm39) |
S43F |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,115,734 (GRCm39) |
T1022A |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,638,991 (GRCm39) |
V874A |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,460,141 (GRCm39) |
T2226A |
probably benign |
Het |
| Nt5dc1 |
T |
C |
10: 34,190,792 (GRCm39) |
H302R |
probably benign |
Het |
| Odc1 |
A |
G |
12: 17,600,003 (GRCm39) |
Y389C |
probably damaging |
Het |
| Or52p2 |
A |
G |
7: 102,237,125 (GRCm39) |
I275T |
probably damaging |
Het |
| Or5k8 |
G |
A |
16: 58,644,958 (GRCm39) |
T38I |
probably damaging |
Het |
| Or8g37 |
T |
G |
9: 39,731,189 (GRCm39) |
F85V |
probably damaging |
Het |
| Pcare |
T |
C |
17: 72,057,880 (GRCm39) |
D599G |
probably damaging |
Het |
| Pcdhb10 |
A |
C |
18: 37,545,365 (GRCm39) |
Q147P |
probably benign |
Het |
| Pdcl2 |
A |
C |
5: 76,465,675 (GRCm39) |
C182G |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,762 (GRCm39) |
D136G |
possibly damaging |
Het |
| Polr1h |
A |
C |
17: 37,268,722 (GRCm39) |
|
probably null |
Het |
| Pramel5 |
T |
C |
4: 143,998,010 (GRCm39) |
E411G |
possibly damaging |
Het |
| Prkce |
T |
C |
17: 86,476,028 (GRCm39) |
V3A |
probably benign |
Het |
| Pth1r |
T |
C |
9: 110,551,461 (GRCm39) |
N546S |
probably benign |
Het |
| Qrich2 |
C |
T |
11: 116,346,148 (GRCm39) |
V1559I |
probably benign |
Het |
| Rbm20 |
A |
C |
19: 53,802,764 (GRCm39) |
D424A |
possibly damaging |
Het |
| Rbm26 |
C |
T |
14: 105,388,284 (GRCm39) |
D393N |
probably damaging |
Het |
| Sf3b3 |
G |
A |
8: 111,547,445 (GRCm39) |
R728C |
probably damaging |
Het |
| Spata31e1 |
G |
T |
13: 49,940,451 (GRCm39) |
Q420K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,137,920 (GRCm39) |
N1090S |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,576,875 (GRCm39) |
S160T |
probably benign |
Het |
| Tcstv6 |
A |
T |
13: 120,304,224 (GRCm39) |
|
probably null |
Het |
| Tfap2e |
C |
T |
4: 126,615,727 (GRCm39) |
V236M |
probably damaging |
Het |
| Thsd4 |
G |
A |
9: 60,301,755 (GRCm39) |
T180M |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,758,443 (GRCm39) |
M412K |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,079,883 (GRCm39) |
H136L |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,044 (GRCm39) |
I110N |
probably benign |
Het |
| Trav13d-3 |
A |
G |
14: 53,270,870 (GRCm39) |
M111V |
probably benign |
Het |
| Tubb3 |
A |
T |
8: 124,147,900 (GRCm39) |
S278C |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,220,299 (GRCm39) |
F364Y |
probably benign |
Het |
| Usp17lc |
T |
C |
7: 103,067,706 (GRCm39) |
S334P |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,852,791 (GRCm39) |
D2357G |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,172 (GRCm39) |
Y125H |
probably benign |
Het |
| Zfp747 |
A |
T |
7: 126,973,819 (GRCm39) |
M117K |
probably benign |
Het |
| Zscan4c |
A |
T |
7: 10,743,658 (GRCm39) |
N419I |
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 |
|
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 |
|
|
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'- GCCACACATCTCAACTGAGG -3'
(R):5'- ACTTCAGTGGGAGTCATTCTGG -3'
Sequencing Primer
(F):5'- ATCTCAACTGAGGGGGCCATC -3'
(R):5'- GTCATTCTGGGTCATAAAACAGACC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation