Incidental Mutation 'R6374:Heg1'
| ID |
513721 |
| 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 |
044524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R6374 (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 33547499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 786
(L786P)
|
| 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: L786P
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: L786P
| 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 |
noncoding transcript
Transcript: ENSMUST00000132797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152782
AA Change: L531P
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: L531P
| 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 |
possibly damaging
Transcript: ENSMUST00000232568
AA Change: L762P
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
| Validation Efficiency |
99% (75/76) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
C |
2: 151,314,800 (GRCm39) |
S293A |
possibly damaging |
Het |
| 5430401F13Rik |
A |
T |
6: 131,529,892 (GRCm39) |
Q162L |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,974,216 (GRCm39) |
Y239* |
probably null |
Het |
| Aox3 |
T |
C |
1: 58,211,320 (GRCm39) |
I959T |
probably benign |
Het |
| Atad2b |
T |
C |
12: 5,068,002 (GRCm39) |
V1000A |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,604,100 (GRCm39) |
T221M |
probably damaging |
Het |
| Atp1a2 |
C |
T |
1: 172,116,942 (GRCm39) |
R225H |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,004,657 (GRCm39) |
|
probably null |
Het |
| Bpi |
A |
T |
2: 158,113,974 (GRCm39) |
T291S |
probably damaging |
Het |
| Ccdc170 |
C |
T |
10: 4,499,746 (GRCm39) |
Q556* |
probably null |
Het |
| Cd3e |
G |
A |
9: 44,920,661 (GRCm39) |
L12F |
probably benign |
Het |
| Cdc42ep1 |
A |
T |
15: 78,731,649 (GRCm39) |
R31S |
probably damaging |
Het |
| Cyp21a1 |
G |
T |
17: 35,023,110 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
A |
G |
14: 7,974,115 (GRCm38) |
M192T |
probably damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,835,341 (GRCm39) |
H330Q |
possibly damaging |
Het |
| Enah |
T |
C |
1: 181,751,145 (GRCm39) |
E232G |
unknown |
Het |
| Etnppl |
C |
T |
3: 130,414,342 (GRCm39) |
T73I |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,400,189 (GRCm39) |
I305F |
probably benign |
Het |
| Galnt15 |
T |
A |
14: 31,780,116 (GRCm39) |
I471N |
probably damaging |
Het |
| Gm19965 |
T |
A |
1: 116,750,021 (GRCm39) |
N567K |
probably benign |
Het |
| Golga1 |
T |
C |
2: 38,924,080 (GRCm39) |
Q435R |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Hao1 |
T |
G |
2: 134,365,024 (GRCm39) |
D201A |
probably benign |
Het |
| Hnrnpll |
A |
T |
17: 80,357,303 (GRCm39) |
C238S |
possibly damaging |
Het |
| Hrg |
A |
G |
16: 22,779,742 (GRCm39) |
Y340C |
probably damaging |
Het |
| Kyat3 |
A |
T |
3: 142,443,998 (GRCm39) |
I411F |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,543,549 (GRCm39) |
Y202H |
probably damaging |
Het |
| Nags |
T |
C |
11: 102,037,337 (GRCm39) |
C143R |
possibly damaging |
Het |
| Ncoa6 |
T |
C |
2: 155,263,076 (GRCm39) |
N453D |
probably damaging |
Het |
| Nup35 |
G |
T |
2: 80,488,730 (GRCm39) |
M322I |
probably benign |
Het |
| Oprl1 |
T |
C |
2: 181,357,721 (GRCm39) |
V69A |
probably damaging |
Het |
| Or51v14 |
A |
G |
7: 103,261,128 (GRCm39) |
L144P |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,215 (GRCm39) |
Y265F |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,629,903 (GRCm39) |
P343L |
possibly damaging |
Het |
| Peak1 |
C |
A |
9: 56,164,950 (GRCm39) |
D993Y |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,627,758 (GRCm39) |
Y1383C |
probably damaging |
Het |
| Ppme1 |
A |
G |
7: 99,990,272 (GRCm39) |
S226P |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,213,325 (GRCm39) |
C127Y |
probably damaging |
Het |
| Ptpn6 |
A |
T |
6: 124,709,532 (GRCm39) |
|
probably null |
Het |
| Reln |
T |
C |
5: 22,285,712 (GRCm39) |
E419G |
probably benign |
Het |
| Rnf32 |
C |
T |
5: 29,430,266 (GRCm39) |
Q362* |
probably null |
Het |
| Sbspon |
T |
C |
1: 15,953,887 (GRCm39) |
D131G |
probably benign |
Het |
| Scyl3 |
T |
C |
1: 163,776,783 (GRCm39) |
S392P |
probably benign |
Het |
| Shtn1 |
T |
A |
19: 59,026,728 (GRCm39) |
D121V |
possibly damaging |
Het |
| Sin3a |
A |
G |
9: 57,024,765 (GRCm39) |
T1042A |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,171,369 (GRCm39) |
V1371D |
probably damaging |
Het |
| Slc20a2 |
T |
C |
8: 23,055,668 (GRCm39) |
V584A |
possibly damaging |
Het |
| Smc6 |
T |
A |
12: 11,355,874 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,124,731 (GRCm39) |
|
probably benign |
Het |
| Specc1 |
C |
T |
11: 62,047,418 (GRCm39) |
T849I |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,041,734 (GRCm39) |
L1368H |
probably damaging |
Het |
| Sqle |
A |
G |
15: 59,187,959 (GRCm39) |
E89G |
possibly damaging |
Het |
| Strbp |
A |
G |
2: 37,493,020 (GRCm39) |
V422A |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,360 (GRCm39) |
T21K |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,065,940 (GRCm39) |
E1790G |
probably damaging |
Het |
| Tmem88b |
T |
A |
4: 155,870,221 (GRCm39) |
|
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,864,318 (GRCm39) |
D355G |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,930,484 (GRCm39) |
V576E |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,039,609 (GRCm39) |
G62D |
probably benign |
Het |
| Trim66 |
T |
G |
7: 109,085,269 (GRCm39) |
K100N |
probably benign |
Het |
| Tsnaxip1 |
A |
T |
8: 106,568,172 (GRCm39) |
T313S |
possibly damaging |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,279 (GRCm39) |
I389N |
probably damaging |
Het |
| Unc13a |
C |
T |
8: 72,094,097 (GRCm39) |
V1335M |
possibly damaging |
Het |
| Urah |
A |
G |
7: 140,415,124 (GRCm39) |
T5A |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,388,914 (GRCm39) |
Y2185H |
probably damaging |
Het |
| Usp44 |
T |
C |
10: 93,692,172 (GRCm39) |
S643P |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,970,937 (GRCm39) |
V631A |
probably damaging |
Het |
| Vmn2r11 |
G |
A |
5: 109,201,679 (GRCm39) |
T275I |
possibly damaging |
Het |
| Vmn2r54 |
C |
A |
7: 12,349,420 (GRCm39) |
V721F |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,498 (GRCm39) |
I299T |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,849,251 (GRCm39) |
T2387A |
probably damaging |
Het |
| Washc5 |
A |
T |
15: 59,209,044 (GRCm39) |
L610Q |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,751,568 (GRCm39) |
E905G |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,309,095 (GRCm39) |
T774A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,299 (GRCm39) |
I457V |
probably benign |
Het |
| Zfp964 |
T |
C |
8: 70,111,994 (GRCm39) |
Y29H |
possibly damaging |
Het |
| Znrf4 |
A |
G |
17: 56,818,702 (GRCm39) |
F202L |
probably 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 |
|
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'- ATTGCATTGATCCCCAGCAATC -3'
(R):5'- TCAGTTGAGATGTGTGGCAC -3'
Sequencing Primer
(F):5'- TTGATCCCCAGCAATCAAACAG -3'
(R):5'- AGATGTGTGGCACTAGGATTTCAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation