Incidental Mutation 'R7183:Heg1'
| ID |
568547 |
| 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 |
045235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R7183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 33558920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155944
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000126532
|
| SMART Domains |
Protein: ENSMUSP00000119790
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 |
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 null
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 |
probably null
Transcript: ENSMUST00000232568
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,215,706 (GRCm39) |
M816L |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,995,032 (GRCm39) |
F5439L |
probably damaging |
Het |
| Apba2 |
G |
A |
7: 64,383,293 (GRCm39) |
D369N |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,097,679 (GRCm39) |
N228D |
probably benign |
Het |
| Arhgap33 |
T |
A |
7: 30,225,296 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
C |
T |
11: 94,330,563 (GRCm39) |
C984Y |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,679,720 (GRCm39) |
G47* |
probably null |
Het |
| Ccdc125 |
A |
G |
13: 100,826,866 (GRCm39) |
D241G |
possibly damaging |
Het |
| Ccdc39 |
T |
G |
3: 33,868,620 (GRCm39) |
E822A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,360,827 (GRCm39) |
D195G |
probably damaging |
Het |
| Cdkl1 |
T |
C |
12: 69,795,706 (GRCm39) |
R275G |
probably damaging |
Het |
| Chst4 |
T |
C |
8: 110,756,630 (GRCm39) |
N411S |
possibly damaging |
Het |
| Cir1 |
A |
G |
2: 73,116,730 (GRCm39) |
V210A |
probably damaging |
Het |
| Col6a1 |
A |
G |
10: 76,552,093 (GRCm39) |
|
probably null |
Het |
| Crmp1 |
C |
A |
5: 37,446,161 (GRCm39) |
H606N |
probably benign |
Het |
| Cyp2j8 |
A |
T |
4: 96,367,418 (GRCm39) |
N233K |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 139,097,990 (GRCm39) |
Q677L |
unknown |
Het |
| Dnah17 |
G |
A |
11: 118,020,014 (GRCm39) |
T11I |
probably benign |
Het |
| Ehd1 |
A |
G |
19: 6,347,684 (GRCm39) |
H346R |
probably benign |
Het |
| Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
| Emc3 |
G |
T |
6: 113,508,345 (GRCm39) |
Y33* |
probably null |
Het |
| Ercc5 |
A |
T |
1: 44,200,968 (GRCm39) |
|
probably null |
Het |
| Ercc5 |
G |
T |
1: 44,200,969 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
C |
9: 15,834,133 (GRCm39) |
I4153S |
possibly damaging |
Het |
| Fn3krp |
T |
C |
11: 121,312,431 (GRCm39) |
|
probably null |
Het |
| Gmnc |
C |
T |
16: 26,779,279 (GRCm39) |
D249N |
probably benign |
Het |
| Gsn |
C |
T |
2: 35,184,960 (GRCm39) |
A305V |
probably benign |
Het |
| Haus6 |
A |
T |
4: 86,501,989 (GRCm39) |
H627Q |
possibly damaging |
Het |
| Hoxd9 |
G |
T |
2: 74,528,709 (GRCm39) |
V104L |
possibly damaging |
Het |
| Igkv10-96 |
A |
C |
6: 68,609,200 (GRCm39) |
S32A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,216,436 (GRCm39) |
V47M |
probably damaging |
Het |
| Mab21l3 |
C |
T |
3: 101,722,469 (GRCm39) |
V386M |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,696,614 (GRCm39) |
S404G |
probably benign |
Het |
| Or5b102 |
A |
G |
19: 13,041,680 (GRCm39) |
I302V |
probably benign |
Het |
| Or5m12 |
T |
A |
2: 85,734,486 (GRCm39) |
Q304L |
probably benign |
Het |
| Or7g20 |
G |
T |
9: 18,946,628 (GRCm39) |
D70Y |
probably damaging |
Het |
| P4htm |
A |
T |
9: 108,459,059 (GRCm39) |
M291K |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,121,538 (GRCm39) |
S49P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,553 (GRCm39) |
V314A |
probably benign |
Het |
| Pfkl |
G |
A |
10: 77,837,916 (GRCm39) |
R31* |
probably null |
Het |
| Phlpp2 |
C |
A |
8: 110,666,585 (GRCm39) |
P1038Q |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 132,994,203 (GRCm39) |
S56P |
probably benign |
Het |
| Plec |
A |
G |
15: 76,089,905 (GRCm39) |
V145A |
unknown |
Het |
| Prg3 |
G |
A |
2: 84,821,848 (GRCm39) |
V158I |
probably benign |
Het |
| Prg3 |
G |
T |
2: 84,823,367 (GRCm39) |
D181Y |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,161 (GRCm39) |
T370A |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,066 (GRCm39) |
M578K |
probably damaging |
Het |
| Siae |
G |
A |
9: 37,528,242 (GRCm39) |
V72M |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,660,511 (GRCm39) |
D1864E |
probably benign |
Het |
| Smox |
T |
C |
2: 131,362,486 (GRCm39) |
I255T |
possibly damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,721,914 (GRCm39) |
L1089F |
probably benign |
Het |
| Tas2r123 |
A |
G |
6: 132,824,661 (GRCm39) |
N186S |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,378 (GRCm39) |
I74F |
possibly damaging |
Het |
| Timm44 |
T |
C |
8: 4,317,311 (GRCm39) |
D238G |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,112,185 (GRCm39) |
|
probably null |
Het |
| Tnc |
A |
G |
4: 63,931,365 (GRCm39) |
S782P |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,282,302 (GRCm39) |
K336N |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,257,049 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,440 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,673,278 (GRCm39) |
Q436R |
probably null |
Het |
| Ywhaq |
T |
C |
12: 21,466,870 (GRCm39) |
K75E |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,665,593 (GRCm39) |
S290P |
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 |
|
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 |
|
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'- GTACTGTTCCCAAATGAGTGATC -3'
(R):5'- TCTATGCCTACCTGCAAGAGC -3'
Sequencing Primer
(F):5'- GTGATCAAAATAAAGCCAGTCTCTG -3'
(R):5'- AGAGGACTCCCATCTTACCTCG -3'
|
| Posted On |
2019-08-19 |
Incidental Mutation