Incidental Mutation 'R5377:Hephl1'
ID |
425621 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
042845-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5377 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14981084 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 783
(K783E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: K783E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: K783E
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
Pfam:Cu-oxidase_3
|
97 |
209 |
2.8e-12 |
PFAM |
Pfam:Cu-oxidase_2
|
289 |
365 |
2.4e-9 |
PFAM |
Pfam:Cu-oxidase_3
|
452 |
564 |
1.2e-9 |
PFAM |
Blast:FA58C
|
604 |
703 |
9e-9 |
BLAST |
Pfam:Cu-oxidase_3
|
805 |
908 |
1.6e-7 |
PFAM |
Pfam:Cu-oxidase_2
|
946 |
1067 |
9e-14 |
PFAM |
transmembrane domain
|
1115 |
1137 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
T |
6: 121,622,212 (GRCm39) |
V372F |
probably benign |
Het |
Adcy10 |
G |
A |
1: 165,347,464 (GRCm39) |
C393Y |
probably damaging |
Het |
Adgrg7 |
A |
C |
16: 56,550,669 (GRCm39) |
I681S |
possibly damaging |
Het |
Akap8l |
T |
C |
17: 32,540,485 (GRCm39) |
|
probably benign |
Het |
Akr1a1 |
A |
T |
4: 116,497,092 (GRCm39) |
V156E |
probably damaging |
Het |
Alk |
T |
G |
17: 72,202,734 (GRCm39) |
D1167A |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,620,453 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
A |
1: 139,385,221 (GRCm39) |
N288K |
probably damaging |
Het |
Aspm |
A |
G |
1: 139,398,133 (GRCm39) |
|
probably null |
Het |
Asxl2 |
G |
A |
12: 3,524,618 (GRCm39) |
|
probably null |
Het |
Atp6v0a1 |
A |
G |
11: 100,946,413 (GRCm39) |
H802R |
probably damaging |
Het |
B4galnt1 |
A |
G |
10: 127,007,691 (GRCm39) |
T531A |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,733,530 (GRCm39) |
N506D |
possibly damaging |
Het |
Crebrf |
T |
C |
17: 26,978,839 (GRCm39) |
V509A |
probably damaging |
Het |
Cyp4f40 |
A |
T |
17: 32,894,590 (GRCm39) |
I413F |
probably null |
Het |
Defb12 |
C |
A |
8: 19,164,342 (GRCm39) |
|
probably null |
Het |
Dnah2 |
T |
C |
11: 69,312,674 (GRCm39) |
E4297G |
probably damaging |
Het |
Dpysl5 |
A |
T |
5: 30,948,857 (GRCm39) |
N371Y |
probably damaging |
Het |
Eef1d |
G |
T |
15: 75,775,038 (GRCm39) |
T207N |
probably benign |
Het |
Esrrb |
C |
T |
12: 86,565,783 (GRCm39) |
Q416* |
probably null |
Het |
Exd2 |
T |
C |
12: 80,536,222 (GRCm39) |
L284P |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,287,739 (GRCm39) |
I595F |
probably benign |
Het |
Gm9920 |
A |
G |
15: 54,972,371 (GRCm39) |
|
probably benign |
Het |
Irs2 |
A |
G |
8: 11,055,277 (GRCm39) |
S1052P |
probably benign |
Het |
Kctd18 |
T |
C |
1: 58,002,252 (GRCm39) |
I192V |
probably benign |
Het |
Lama3 |
A |
G |
18: 12,586,803 (GRCm39) |
D722G |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,672,216 (GRCm39) |
V1080A |
possibly damaging |
Het |
Lpin1 |
C |
T |
12: 16,613,656 (GRCm39) |
G504S |
probably damaging |
Het |
Lrit2 |
A |
C |
14: 36,791,140 (GRCm39) |
Q273P |
possibly damaging |
Het |
Mlkl |
T |
A |
8: 112,054,569 (GRCm39) |
E189D |
probably benign |
Het |
Mttp |
C |
T |
3: 137,810,790 (GRCm39) |
R608H |
probably benign |
Het |
Nav2 |
T |
C |
7: 49,238,908 (GRCm39) |
V2011A |
probably benign |
Het |
Nos2 |
A |
T |
11: 78,848,317 (GRCm39) |
I1075F |
probably benign |
Het |
Npat |
A |
G |
9: 53,461,336 (GRCm39) |
|
probably null |
Het |
Nucks1 |
T |
C |
1: 131,846,771 (GRCm39) |
F16L |
probably damaging |
Het |
Nus1 |
T |
C |
10: 52,305,309 (GRCm39) |
S150P |
possibly damaging |
Het |
Odad1 |
C |
T |
7: 45,591,506 (GRCm39) |
R257* |
probably null |
Het |
Oga |
A |
T |
19: 45,746,461 (GRCm39) |
Y779* |
probably null |
Het |
Or4c123 |
G |
T |
2: 89,127,506 (GRCm39) |
T36K |
probably damaging |
Het |
Or8b35 |
A |
T |
9: 37,903,908 (GRCm39) |
Y40F |
probably benign |
Het |
Pclo |
A |
G |
5: 14,731,367 (GRCm39) |
T3290A |
unknown |
Het |
Pign |
A |
T |
1: 105,585,537 (GRCm39) |
F4Y |
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,696,406 (GRCm39) |
N233D |
possibly damaging |
Het |
Rpgrip1 |
A |
T |
14: 52,397,652 (GRCm39) |
M1325L |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scaf11 |
T |
A |
15: 96,315,001 (GRCm39) |
H1227L |
possibly damaging |
Het |
Sec31b |
G |
T |
19: 44,507,076 (GRCm39) |
P840T |
probably damaging |
Het |
Slc16a9 |
T |
A |
10: 70,118,958 (GRCm39) |
L426I |
probably damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc34a1 |
T |
C |
13: 23,996,575 (GRCm39) |
S27P |
probably damaging |
Het |
Tacc1 |
A |
G |
8: 25,672,299 (GRCm39) |
S310P |
possibly damaging |
Het |
Tmem245 |
G |
A |
4: 56,947,084 (GRCm39) |
R110C |
probably damaging |
Het |
Trip12 |
T |
C |
1: 84,735,152 (GRCm39) |
Y953C |
probably damaging |
Het |
Trpm7 |
C |
A |
2: 126,684,775 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,644,320 (GRCm39) |
V4561I |
probably benign |
Het |
Vmn1r192 |
C |
T |
13: 22,371,801 (GRCm39) |
V140I |
probably benign |
Het |
Vmn2r66 |
A |
T |
7: 84,656,026 (GRCm39) |
I330N |
probably damaging |
Het |
Vmn2r99 |
T |
C |
17: 19,599,531 (GRCm39) |
V405A |
probably damaging |
Het |
Wdhd1 |
A |
C |
14: 47,509,678 (GRCm39) |
V172G |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,677,817 (GRCm39) |
R2956C |
possibly damaging |
Het |
Zfp446 |
T |
C |
7: 12,716,178 (GRCm39) |
L283P |
possibly damaging |
Het |
Zfp82 |
T |
C |
7: 29,756,591 (GRCm39) |
K164E |
probably damaging |
Het |
|
Other mutations in Hephl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00979:Hephl1
|
APN |
9 |
14,978,341 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01105:Hephl1
|
APN |
9 |
15,000,320 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01731:Hephl1
|
APN |
9 |
14,981,066 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Hephl1
|
APN |
9 |
15,001,852 (GRCm39) |
nonsense |
probably null |
|
IGL02112:Hephl1
|
APN |
9 |
14,993,111 (GRCm39) |
splice site |
probably benign |
|
IGL02227:Hephl1
|
APN |
9 |
14,981,089 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02490:Hephl1
|
APN |
9 |
14,964,981 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02960:Hephl1
|
APN |
9 |
14,995,615 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03265:Hephl1
|
APN |
9 |
14,972,255 (GRCm39) |
missense |
probably benign |
0.14 |
R0006:Hephl1
|
UTSW |
9 |
14,988,060 (GRCm39) |
missense |
probably benign |
0.16 |
R0006:Hephl1
|
UTSW |
9 |
14,988,060 (GRCm39) |
missense |
probably benign |
0.16 |
R0007:Hephl1
|
UTSW |
9 |
14,997,471 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0092:Hephl1
|
UTSW |
9 |
15,001,899 (GRCm39) |
frame shift |
probably null |
|
R0421:Hephl1
|
UTSW |
9 |
14,970,456 (GRCm39) |
missense |
probably benign |
0.05 |
R0448:Hephl1
|
UTSW |
9 |
14,988,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R0563:Hephl1
|
UTSW |
9 |
14,993,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R0602:Hephl1
|
UTSW |
9 |
15,000,347 (GRCm39) |
missense |
probably damaging |
0.99 |
R0631:Hephl1
|
UTSW |
9 |
14,995,820 (GRCm39) |
missense |
probably benign |
0.04 |
R0747:Hephl1
|
UTSW |
9 |
14,965,297 (GRCm39) |
splice site |
probably benign |
|
R1123:Hephl1
|
UTSW |
9 |
14,991,436 (GRCm39) |
missense |
probably benign |
0.00 |
R1386:Hephl1
|
UTSW |
9 |
14,988,050 (GRCm39) |
missense |
probably benign |
|
R1711:Hephl1
|
UTSW |
9 |
14,970,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R1743:Hephl1
|
UTSW |
9 |
15,001,364 (GRCm39) |
missense |
probably damaging |
0.99 |
R1833:Hephl1
|
UTSW |
9 |
14,988,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R1908:Hephl1
|
UTSW |
9 |
14,985,420 (GRCm39) |
nonsense |
probably null |
|
R1918:Hephl1
|
UTSW |
9 |
14,988,114 (GRCm39) |
missense |
probably benign |
0.16 |
R1938:Hephl1
|
UTSW |
9 |
14,965,283 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1986:Hephl1
|
UTSW |
9 |
14,965,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R3122:Hephl1
|
UTSW |
9 |
15,000,265 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3832:Hephl1
|
UTSW |
9 |
14,981,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R3833:Hephl1
|
UTSW |
9 |
14,981,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R4280:Hephl1
|
UTSW |
9 |
15,023,330 (GRCm39) |
missense |
probably benign |
0.05 |
R4434:Hephl1
|
UTSW |
9 |
14,988,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R4790:Hephl1
|
UTSW |
9 |
14,970,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R4793:Hephl1
|
UTSW |
9 |
15,009,286 (GRCm39) |
missense |
probably benign |
0.34 |
R4960:Hephl1
|
UTSW |
9 |
14,997,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R5125:Hephl1
|
UTSW |
9 |
14,997,468 (GRCm39) |
missense |
probably damaging |
0.98 |
R5152:Hephl1
|
UTSW |
9 |
14,991,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5178:Hephl1
|
UTSW |
9 |
14,997,468 (GRCm39) |
missense |
probably damaging |
0.98 |
R5288:Hephl1
|
UTSW |
9 |
14,988,150 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5372:Hephl1
|
UTSW |
9 |
15,009,195 (GRCm39) |
nonsense |
probably null |
|
R5788:Hephl1
|
UTSW |
9 |
14,995,579 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5795:Hephl1
|
UTSW |
9 |
14,981,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R6210:Hephl1
|
UTSW |
9 |
15,001,860 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6303:Hephl1
|
UTSW |
9 |
15,001,448 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6394:Hephl1
|
UTSW |
9 |
14,985,397 (GRCm39) |
missense |
probably benign |
0.00 |
R6653:Hephl1
|
UTSW |
9 |
14,993,260 (GRCm39) |
missense |
probably damaging |
0.99 |
R6764:Hephl1
|
UTSW |
9 |
15,000,217 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7114:Hephl1
|
UTSW |
9 |
14,981,111 (GRCm39) |
missense |
probably damaging |
0.96 |
R7143:Hephl1
|
UTSW |
9 |
14,972,106 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7404:Hephl1
|
UTSW |
9 |
14,981,047 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7446:Hephl1
|
UTSW |
9 |
15,009,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Hephl1
|
UTSW |
9 |
15,009,178 (GRCm39) |
critical splice donor site |
probably null |
|
R7715:Hephl1
|
UTSW |
9 |
14,972,081 (GRCm39) |
missense |
probably benign |
0.36 |
R8013:Hephl1
|
UTSW |
9 |
14,965,905 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8156:Hephl1
|
UTSW |
9 |
14,972,210 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8755:Hephl1
|
UTSW |
9 |
15,023,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Hephl1
|
UTSW |
9 |
14,985,563 (GRCm39) |
missense |
probably benign |
|
R8777:Hephl1
|
UTSW |
9 |
14,972,090 (GRCm39) |
missense |
probably benign |
0.24 |
R8777-TAIL:Hephl1
|
UTSW |
9 |
14,972,090 (GRCm39) |
missense |
probably benign |
0.24 |
R9090:Hephl1
|
UTSW |
9 |
14,988,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R9155:Hephl1
|
UTSW |
9 |
15,000,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R9271:Hephl1
|
UTSW |
9 |
14,988,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R9287:Hephl1
|
UTSW |
9 |
14,995,775 (GRCm39) |
missense |
probably benign |
0.01 |
R9487:Hephl1
|
UTSW |
9 |
14,995,830 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0026:Hephl1
|
UTSW |
9 |
14,995,524 (GRCm39) |
critical splice donor site |
probably null |
|
X0066:Hephl1
|
UTSW |
9 |
14,964,964 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Hephl1
|
UTSW |
9 |
14,965,017 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Hephl1
|
UTSW |
9 |
15,001,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATGAGACACCAGGTAGACTGC -3'
(R):5'- CTCAGAGATGGTGCAAAAGC -3'
Sequencing Primer
(F):5'- AGGTAGACTGCCCTGAGGAC -3'
(R):5'- GATGGTGCAAAAGCCAACTC -3'
|
Posted On |
2016-08-04 |