Incidental Mutation 'R5934:Heg1'
| ID |
462135 |
| 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 |
044128-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R5934 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33547289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 461
(T461M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: T716M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: T716M
| 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 damaging
Transcript: ENSMUST00000152782
AA Change: T461M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: T461M
| 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 |
probably damaging
Transcript: ENSMUST00000232568
AA Change: T692M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
C |
5: 8,980,806 (GRCm39) |
V596A |
probably benign |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Afg1l |
G |
A |
10: 42,194,682 (GRCm39) |
T370M |
probably damaging |
Het |
| Aldh2 |
T |
C |
5: 121,717,678 (GRCm39) |
T118A |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,084,940 (GRCm39) |
A379V |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,299 (GRCm39) |
|
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cd96 |
G |
T |
16: 45,938,266 (GRCm39) |
D66E |
probably benign |
Het |
| Cdh5 |
T |
A |
8: 104,864,900 (GRCm39) |
V506E |
probably benign |
Het |
| Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
| Ckb |
A |
T |
12: 111,636,663 (GRCm39) |
V237D |
probably damaging |
Het |
| Col6a6 |
C |
T |
9: 105,644,274 (GRCm39) |
D1306N |
probably damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,243,140 (GRCm39) |
S19P |
probably damaging |
Het |
| Dnah17 |
G |
T |
11: 117,931,928 (GRCm39) |
D3681E |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,424,495 (GRCm39) |
Y2068* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,248,060 (GRCm39) |
Y1019C |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,817,092 (GRCm39) |
C4275Y |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,664 (GRCm39) |
V202A |
probably damaging |
Het |
| Gmeb2 |
T |
C |
2: 180,897,367 (GRCm39) |
I250M |
possibly damaging |
Het |
| Gpr88 |
C |
T |
3: 116,045,958 (GRCm39) |
G118R |
probably damaging |
Het |
| Hdhd3 |
C |
A |
4: 62,417,607 (GRCm39) |
V190L |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,246,083 (GRCm39) |
Y989C |
probably damaging |
Het |
| Ift74 |
A |
T |
4: 94,520,971 (GRCm39) |
M175L |
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,124,414 (GRCm39) |
R101Q |
possibly damaging |
Het |
| Kif20b |
G |
T |
19: 34,918,721 (GRCm39) |
V702F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,360,651 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,618,249 (GRCm39) |
V916A |
probably benign |
Het |
| Macir |
A |
T |
1: 97,573,655 (GRCm39) |
C137S |
possibly damaging |
Het |
| Mpp4 |
A |
T |
1: 59,160,535 (GRCm39) |
D589E |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,979,017 (GRCm39) |
C464R |
probably damaging |
Het |
| Mucl2 |
A |
T |
15: 103,927,832 (GRCm39) |
S42T |
probably benign |
Het |
| Musk |
T |
A |
4: 58,373,613 (GRCm39) |
L838Q |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,074,510 (GRCm39) |
H1052R |
probably damaging |
Het |
| Or10d4b |
C |
T |
9: 39,534,479 (GRCm39) |
T20I |
probably damaging |
Het |
| Or10v1 |
A |
G |
19: 11,874,293 (GRCm39) |
R303G |
probably benign |
Het |
| Or1j20 |
T |
A |
2: 36,760,280 (GRCm39) |
I234N |
probably benign |
Het |
| Or2at1 |
A |
T |
7: 99,416,596 (GRCm39) |
I76F |
probably damaging |
Het |
| Or4d2 |
T |
C |
11: 87,784,049 (GRCm39) |
R234G |
possibly damaging |
Het |
| Or52e15 |
C |
A |
7: 104,645,385 (GRCm39) |
C242F |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,867 (GRCm39) |
S211F |
probably benign |
Het |
| Or5w8 |
T |
C |
2: 87,687,585 (GRCm39) |
V22A |
probably benign |
Het |
| Or8u8 |
T |
A |
2: 86,012,446 (GRCm39) |
Q3L |
probably benign |
Het |
| Pard3 |
T |
G |
8: 128,115,819 (GRCm39) |
L636R |
probably damaging |
Het |
| Pigr |
A |
T |
1: 130,772,264 (GRCm39) |
S161C |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,029,369 (GRCm39) |
S325P |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,060 (GRCm39) |
V1992E |
probably damaging |
Het |
| Psma5-ps |
T |
C |
10: 85,150,145 (GRCm39) |
|
noncoding transcript |
Het |
| Ptpdc1 |
T |
C |
13: 48,739,845 (GRCm39) |
K468E |
probably benign |
Het |
| Rab22a |
A |
G |
2: 173,503,297 (GRCm39) |
T37A |
probably damaging |
Het |
| Rai14 |
T |
A |
15: 10,575,245 (GRCm39) |
K571I |
probably damaging |
Het |
| Reck |
G |
A |
4: 43,930,979 (GRCm39) |
G660D |
probably damaging |
Het |
| Rgs4 |
T |
C |
1: 169,572,807 (GRCm39) |
D43G |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,599,040 (GRCm39) |
D4645E |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,550,102 (GRCm39) |
S639P |
probably damaging |
Het |
| Slc27a4 |
G |
T |
2: 29,701,672 (GRCm39) |
R430L |
probably damaging |
Het |
| Slfn1 |
T |
A |
11: 83,012,770 (GRCm39) |
Y295* |
probably null |
Het |
| Slfn5 |
C |
T |
11: 82,847,418 (GRCm39) |
S101L |
probably damaging |
Het |
| Sult1d1 |
CCATG |
CCATGGCATG |
5: 87,707,629 (GRCm39) |
|
probably null |
Het |
| Tchh |
A |
T |
3: 93,351,419 (GRCm39) |
Q286H |
unknown |
Het |
| Tmem184c |
A |
T |
8: 78,331,352 (GRCm39) |
Y172* |
probably null |
Het |
| Tsc22d1 |
T |
G |
14: 76,656,266 (GRCm39) |
M833R |
possibly damaging |
Het |
| Ugt1a7c |
G |
T |
1: 88,023,601 (GRCm39) |
L253F |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,369,766 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,355,148 (GRCm39) |
I3303K |
possibly damaging |
Het |
| Zfp574 |
G |
A |
7: 24,779,757 (GRCm39) |
A260T |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,880,642 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- GCCTTACCATCAACCAGGTC -3'
(R):5'- GCTAAACTGGTGCTTGTGGC -3'
Sequencing Primer
(F):5'- GGTCTCCTGGGTCTACCTCTGAG -3'
(R):5'- CCGTGGAGAACCCTGTTAAG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation