Incidental Mutation 'R0089:Heg1'
| ID |
20097 |
| 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 |
038376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R0089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
33504754-33591946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33583985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1033
(S1033L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123686
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126532]
[ENSMUST00000128105]
[ENSMUST00000152782]
[ENSMUST00000232568]
|
| AlphaFold |
E9Q7X6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126532
AA Change: S1288L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119790
Gene: ENSMUSG00000075254
AA Change: S1288L
| 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 benign
Transcript: ENSMUST00000128105
AA Change: S89L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146518
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152782
AA Change: S1033L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123686
Gene: ENSMUSG00000075254
AA Change: S1033L
| 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: S1264L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.2660 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
98% (82/84) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,282,303 (GRCm39) |
H163L |
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,242,886 (GRCm39) |
V1583E |
possibly damaging |
Het |
| Ablim1 |
G |
T |
19: 57,031,463 (GRCm39) |
S654Y |
probably damaging |
Het |
| Acbd4 |
T |
C |
11: 102,994,819 (GRCm39) |
F59S |
probably damaging |
Het |
| Acot1 |
T |
C |
12: 84,063,708 (GRCm39) |
I272T |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,773,409 (GRCm39) |
D1402G |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,945,371 (GRCm39) |
F2800I |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,585,401 (GRCm39) |
E811G |
probably benign |
Het |
| Catspere2 |
C |
T |
1: 177,874,555 (GRCm39) |
P141S |
unknown |
Het |
| Ccdc106 |
A |
G |
7: 5,059,220 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
G |
T |
7: 89,542,324 (GRCm39) |
A184E |
possibly damaging |
Het |
| Cenpt |
T |
C |
8: 106,573,000 (GRCm39) |
T364A |
probably benign |
Het |
| Crybg2 |
T |
C |
4: 133,808,505 (GRCm39) |
S1060P |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,111 (GRCm39) |
T109A |
possibly damaging |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,089 (GRCm39) |
L124P |
probably benign |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,283 (GRCm39) |
I92N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,849,501 (GRCm39) |
D3967G |
probably benign |
Het |
| Fbxo21 |
T |
A |
5: 118,146,208 (GRCm39) |
F610L |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,494,878 (GRCm39) |
D341G |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,342,507 (GRCm39) |
H1600L |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,263,892 (GRCm39) |
K133N |
possibly damaging |
Het |
| Gm10647 |
A |
G |
9: 66,705,612 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
C |
3: 63,906,119 (GRCm39) |
F472S |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,884,192 (GRCm39) |
|
probably benign |
Het |
| Grm6 |
G |
A |
11: 50,750,792 (GRCm39) |
G652S |
probably damaging |
Het |
| Heca |
G |
T |
10: 17,783,848 (GRCm39) |
D468E |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,487,094 (GRCm39) |
S12P |
probably damaging |
Het |
| Impdh1 |
G |
T |
6: 29,206,325 (GRCm39) |
H195N |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,649,972 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
T |
6: 146,251,520 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
G |
A |
11: 105,899,848 (GRCm39) |
C39Y |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,837 (GRCm39) |
S1364P |
probably damaging |
Het |
| Lins1 |
T |
A |
7: 66,361,796 (GRCm39) |
|
probably benign |
Het |
| Lrpap1 |
C |
T |
5: 35,252,232 (GRCm39) |
V328M |
possibly damaging |
Het |
| Lyn |
T |
G |
4: 3,748,768 (GRCm39) |
L249V |
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,439,555 (GRCm39) |
|
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,765,696 (GRCm39) |
F400L |
possibly damaging |
Het |
| Mto1 |
G |
A |
9: 78,381,154 (GRCm39) |
S666N |
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Nsg1 |
T |
C |
5: 38,312,974 (GRCm39) |
E75G |
probably benign |
Het |
| Nsun4 |
A |
G |
4: 115,892,970 (GRCm39) |
M283T |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,890,888 (GRCm39) |
S7215P |
unknown |
Het |
| Or11j4 |
T |
C |
14: 50,630,321 (GRCm39) |
I36T |
probably benign |
Het |
| Or13a20 |
T |
C |
7: 140,232,224 (GRCm39) |
S111P |
probably damaging |
Het |
| Or1j12 |
G |
A |
2: 36,343,107 (GRCm39) |
R170K |
probably benign |
Het |
| Or2y13 |
G |
A |
11: 49,415,033 (GRCm39) |
S161N |
possibly damaging |
Het |
| Or52e4 |
T |
A |
7: 104,706,297 (GRCm39) |
Y281* |
probably null |
Het |
| Or5al1 |
A |
C |
2: 85,989,918 (GRCm39) |
S265R |
possibly damaging |
Het |
| Or9m1b |
T |
C |
2: 87,836,331 (GRCm39) |
I264V |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,994,869 (GRCm39) |
F563S |
probably benign |
Het |
| Pik3c3 |
T |
A |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
T |
13: 6,605,675 (GRCm39) |
K207N |
probably damaging |
Het |
| Prdm10 |
C |
T |
9: 31,227,526 (GRCm39) |
R44C |
probably damaging |
Het |
| Rab40c |
A |
T |
17: 26,104,122 (GRCm39) |
I90N |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,041,334 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
G |
A |
14: 56,751,563 (GRCm39) |
G1467E |
probably damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,386,841 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,756,896 (GRCm39) |
N1069K |
probably benign |
Het |
| Scap |
T |
C |
9: 110,201,290 (GRCm39) |
I93T |
possibly damaging |
Het |
| Sez6 |
T |
C |
11: 77,865,170 (GRCm39) |
|
probably benign |
Het |
| Slc22a30 |
A |
T |
19: 8,347,561 (GRCm39) |
S280T |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 22,016,342 (GRCm39) |
|
probably null |
Het |
| St18 |
T |
C |
1: 6,919,172 (GRCm39) |
V901A |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,010,650 (GRCm39) |
L2519P |
probably damaging |
Het |
| Syne4 |
G |
A |
7: 30,018,344 (GRCm39) |
G362E |
probably damaging |
Het |
| Tmem51 |
T |
C |
4: 141,759,236 (GRCm39) |
T171A |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,966,024 (GRCm39) |
I453N |
probably damaging |
Het |
| Trank1 |
A |
T |
9: 111,221,978 (GRCm39) |
H2905L |
probably benign |
Het |
| Trim13 |
C |
T |
14: 61,842,166 (GRCm39) |
T61I |
possibly damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,580 (GRCm39) |
Q290R |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,559,544 (GRCm39) |
R29619L |
probably damaging |
Het |
| Ugt2b38 |
T |
A |
5: 87,568,417 (GRCm39) |
M293L |
probably benign |
Het |
| Vmn1r22 |
T |
A |
6: 57,877,513 (GRCm39) |
N155Y |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,508,269 (GRCm39) |
Y285C |
probably benign |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,588 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
C |
6: 13,220,004 (GRCm39) |
L49R |
probably damaging |
Het |
| Yipf2 |
T |
A |
9: 21,503,262 (GRCm39) |
E68D |
possibly damaging |
Het |
| Zfand5 |
C |
A |
19: 21,257,122 (GRCm39) |
|
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 |
|
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 |
|
|
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'- TTCTCCCAGAGGACAGGACACTAAC -3'
(R):5'- CTGAAGAACTCCATGTCACCAGGC -3'
Sequencing Primer
(F):5'- GACACTCAGTCTTGTCGAAGATG -3'
(R):5'- TGTCACCAGGCCACCAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation