Incidental Mutation 'R5227:Heg1'
ID |
402704 |
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 |
042800-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R5227 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33583961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1256
(L1256Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000128105]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
AlphaFold |
E9Q7X6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: L1280Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119790 Gene: ENSMUSG00000075254 AA Change: L1280Q
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: ENSMUST00000128105
AA Change: L81Q
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146518
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152782
AA Change: L1025Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123686 Gene: ENSMUSG00000075254 AA Change: L1025Q
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: ENSMUST00000152832
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000232568
AA Change: L1256Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.2%
- 20x: 97.2%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
C |
17: 84,999,249 (GRCm39) |
L115P |
probably damaging |
Het |
Adgrb3 |
A |
C |
1: 25,133,033 (GRCm39) |
M481R |
possibly damaging |
Het |
Adgrd1 |
C |
A |
5: 129,199,647 (GRCm39) |
N161K |
probably benign |
Het |
Alx4 |
T |
A |
2: 93,507,725 (GRCm39) |
V340D |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,407,716 (GRCm39) |
S2264P |
unknown |
Het |
Azi2 |
A |
T |
9: 117,876,526 (GRCm39) |
H14L |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,202,629 (GRCm39) |
|
probably benign |
Het |
Ccpg1 |
T |
A |
9: 72,919,354 (GRCm39) |
L323* |
probably null |
Het |
Cpsf1 |
A |
T |
15: 76,483,148 (GRCm39) |
I943N |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,978,739 (GRCm39) |
Y476N |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,894 (GRCm39) |
Y46* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,863,269 (GRCm39) |
L703P |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,484,518 (GRCm39) |
I181F |
probably damaging |
Het |
Eif3e |
T |
A |
15: 43,114,917 (GRCm39) |
M420L |
probably benign |
Het |
Emilin3 |
T |
A |
2: 160,751,185 (GRCm39) |
Q188L |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,376,840 (GRCm39) |
T92M |
probably damaging |
Het |
Fer1l6 |
C |
T |
15: 58,453,752 (GRCm39) |
Q687* |
probably null |
Het |
Fkrp |
T |
C |
7: 16,544,635 (GRCm39) |
E409G |
possibly damaging |
Het |
Fzd9 |
T |
C |
5: 135,278,460 (GRCm39) |
D475G |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,380,958 (GRCm39) |
T767I |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,663,451 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
T |
C |
7: 35,008,776 (GRCm39) |
N82D |
probably benign |
Het |
Ireb2 |
T |
A |
9: 54,803,885 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
G |
11: 104,247,640 (GRCm39) |
H570P |
probably benign |
Het |
Kcna10 |
T |
G |
3: 107,101,744 (GRCm39) |
M125R |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 40,741,805 (GRCm39) |
I3041L |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,815,474 (GRCm39) |
F354S |
possibly damaging |
Het |
Mideas |
A |
T |
12: 84,199,661 (GRCm39) |
F1020I |
probably benign |
Het |
Mov10 |
T |
C |
3: 104,709,894 (GRCm39) |
T331A |
probably benign |
Het |
Ms4a8a |
A |
T |
19: 11,045,780 (GRCm39) |
S243T |
probably damaging |
Het |
Ndufa11 |
T |
C |
17: 57,024,867 (GRCm39) |
S10P |
probably benign |
Het |
Olfml3 |
A |
G |
3: 103,643,737 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,705 (GRCm39) |
F251I |
possibly damaging |
Het |
Or56b2j |
A |
G |
7: 104,353,529 (GRCm39) |
I252V |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,763,574 (GRCm39) |
S4016P |
probably benign |
Het |
Pcyox1 |
G |
C |
6: 86,368,726 (GRCm39) |
A264G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,874,587 (GRCm39) |
|
probably benign |
Het |
Prc1 |
T |
C |
7: 79,962,927 (GRCm39) |
S574P |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,186 (GRCm39) |
V16D |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,800,687 (GRCm39) |
V96A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,537,211 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,001,364 (GRCm39) |
Y111H |
probably damaging |
Het |
Snx14 |
G |
A |
9: 88,280,347 (GRCm39) |
T536I |
possibly damaging |
Het |
Spindoc |
A |
G |
19: 7,351,512 (GRCm39) |
V204A |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Swt1 |
G |
A |
1: 151,278,727 (GRCm39) |
Q227* |
probably null |
Het |
Tg |
A |
G |
15: 66,631,416 (GRCm39) |
I562V |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,179 (GRCm39) |
I677F |
probably damaging |
Het |
Vmn1r49 |
G |
A |
6: 90,049,753 (GRCm39) |
T83I |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,295,601 (GRCm39) |
K166E |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,269,819 (GRCm39) |
I25T |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,907,777 (GRCm39) |
|
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,449 (GRCm39) |
I170V |
probably benign |
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 |
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 |
|
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'- ACACTCAGTCTTGTCGAAGATG -3'
(R):5'- TCACACTGAAGAACTCCATGTC -3'
Sequencing Primer
(F):5'- CACTCAGTCTTGTCGAAGATGTCATG -3'
(R):5'- TGAAGAACTCCATGTCACCAGG -3'
|
Posted On |
2016-07-22 |