Incidental Mutation 'IGL02227:Hephl1'
ID |
285622 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL02227
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14981089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 781
(Y781C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: Y781C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: Y781C
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
A |
G |
8: 46,987,402 (GRCm39) |
E662G |
probably benign |
Het |
Acss3 |
A |
G |
10: 106,881,196 (GRCm39) |
S262P |
probably benign |
Het |
Agap1 |
T |
C |
1: 89,591,497 (GRCm39) |
V263A |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,123,152 (GRCm39) |
L454P |
probably damaging |
Het |
Arrdc1 |
A |
T |
2: 24,816,164 (GRCm39) |
F280I |
possibly damaging |
Het |
Atp8b1 |
G |
T |
18: 64,695,261 (GRCm39) |
H485N |
probably benign |
Het |
Atrip |
A |
G |
9: 108,890,732 (GRCm39) |
S91P |
possibly damaging |
Het |
Bcorl1 |
T |
C |
X: 47,458,237 (GRCm39) |
V590A |
probably benign |
Het |
Brf1 |
C |
A |
12: 112,925,394 (GRCm39) |
R590S |
probably damaging |
Het |
Ccdc18 |
A |
T |
5: 108,296,788 (GRCm39) |
D197V |
possibly damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,284 (GRCm39) |
V163A |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,632,217 (GRCm39) |
E257G |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,921,989 (GRCm39) |
D564G |
possibly damaging |
Het |
Cdh2 |
C |
T |
18: 16,762,643 (GRCm39) |
V434I |
probably benign |
Het |
Cfap410 |
A |
G |
10: 77,818,784 (GRCm39) |
N152D |
possibly damaging |
Het |
Cltc |
C |
T |
11: 86,588,166 (GRCm39) |
V1610M |
possibly damaging |
Het |
Cnot4 |
A |
G |
6: 35,028,198 (GRCm39) |
F473L |
probably benign |
Het |
Dock3 |
T |
C |
9: 106,939,254 (GRCm39) |
K165E |
probably damaging |
Het |
Duox2 |
A |
T |
2: 122,115,634 (GRCm39) |
|
probably benign |
Het |
Epha7 |
A |
G |
4: 28,821,587 (GRCm39) |
S251G |
possibly damaging |
Het |
Epn1 |
T |
A |
7: 5,098,035 (GRCm39) |
V282E |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,476,696 (GRCm39) |
L1914P |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,233,349 (GRCm39) |
I611T |
possibly damaging |
Het |
Fgd6 |
G |
T |
10: 93,969,946 (GRCm39) |
M1198I |
probably damaging |
Het |
Frmpd4 |
T |
A |
X: 166,275,931 (GRCm39) |
I379F |
probably damaging |
Het |
Grk4 |
T |
A |
5: 34,852,126 (GRCm39) |
D123E |
probably benign |
Het |
Hc |
T |
G |
2: 34,899,923 (GRCm39) |
|
probably benign |
Het |
Hfe |
T |
C |
13: 23,890,926 (GRCm39) |
E71G |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,116,919 (GRCm39) |
|
probably benign |
Het |
Ifnk |
G |
A |
4: 35,152,642 (GRCm39) |
|
probably benign |
Het |
Kcnv1 |
C |
A |
15: 44,977,670 (GRCm39) |
G123C |
probably damaging |
Het |
Klhl38 |
A |
T |
15: 58,186,633 (GRCm39) |
I32N |
possibly damaging |
Het |
Lpl |
T |
C |
8: 69,348,452 (GRCm39) |
V227A |
probably damaging |
Het |
Lurap1l |
A |
T |
4: 80,872,094 (GRCm39) |
S196C |
probably damaging |
Het |
Mta1 |
T |
C |
12: 113,084,528 (GRCm39) |
L91P |
possibly damaging |
Het |
Nelfe |
C |
A |
17: 35,073,330 (GRCm39) |
D288E |
probably benign |
Het |
Or5p1 |
T |
A |
7: 107,916,408 (GRCm39) |
C102* |
probably null |
Het |
Otof |
T |
C |
5: 30,528,128 (GRCm39) |
E1905G |
probably damaging |
Het |
Pck2 |
T |
C |
14: 55,781,323 (GRCm39) |
I148T |
probably benign |
Het |
Plcl2 |
G |
T |
17: 50,913,425 (GRCm39) |
V145F |
probably damaging |
Het |
Plec |
A |
G |
15: 76,056,474 (GRCm39) |
S4510P |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,434,397 (GRCm39) |
E641G |
probably damaging |
Het |
Poglut3 |
T |
C |
9: 53,299,779 (GRCm39) |
L96S |
probably damaging |
Het |
Ppp1r12a |
C |
T |
10: 108,105,185 (GRCm39) |
T434M |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,568,245 (GRCm39) |
N184K |
possibly damaging |
Het |
Prkar1a |
G |
A |
11: 109,551,001 (GRCm39) |
|
probably benign |
Het |
Psmb1 |
A |
T |
17: 15,710,546 (GRCm39) |
M1K |
probably null |
Het |
Pwwp2a |
T |
C |
11: 43,596,448 (GRCm39) |
S538P |
possibly damaging |
Het |
Rbm25 |
C |
T |
12: 83,719,527 (GRCm39) |
R516W |
probably damaging |
Het |
Rnf103 |
A |
G |
6: 71,487,172 (GRCm39) |
D601G |
probably benign |
Het |
Senp3 |
A |
G |
11: 69,565,356 (GRCm39) |
V467A |
possibly damaging |
Het |
Slc8a3 |
T |
G |
12: 81,362,457 (GRCm39) |
T121P |
probably damaging |
Het |
Slco1a8 |
A |
T |
6: 141,939,401 (GRCm39) |
C197* |
probably null |
Het |
Srrt |
G |
A |
5: 137,294,536 (GRCm39) |
T790M |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,936,453 (GRCm39) |
|
probably null |
Het |
Tas2r129 |
G |
A |
6: 132,928,357 (GRCm39) |
W98* |
probably null |
Het |
Thoc5 |
A |
C |
11: 4,876,217 (GRCm39) |
M609L |
probably benign |
Het |
Tnip1 |
G |
A |
11: 54,827,297 (GRCm39) |
T155M |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,618,672 (GRCm39) |
V14458A |
probably benign |
Het |
Unc5cl |
A |
G |
17: 48,766,809 (GRCm39) |
E61G |
probably benign |
Het |
Usp32 |
T |
C |
11: 84,877,307 (GRCm39) |
K151E |
probably damaging |
Het |
Vmn2r121 |
T |
C |
X: 123,042,378 (GRCm39) |
M260V |
probably benign |
Het |
Vwa7 |
G |
T |
17: 35,239,060 (GRCm39) |
R345L |
probably damaging |
Het |
Zfp366 |
G |
T |
13: 99,370,696 (GRCm39) |
R472L |
possibly damaging |
Het |
Zfp811 |
A |
T |
17: 33,017,616 (GRCm39) |
Y141* |
probably null |
Het |
Zpbp |
C |
T |
11: 11,365,248 (GRCm39) |
E200K |
probably benign |
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 |
|
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 |
|
R5377:Hephl1
|
UTSW |
9 |
14,981,084 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |