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 |
LOC244698, zyklopen, Zp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02227
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
15051841-15112108 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15069793 bp (GRCm38)
|
| 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 |
|---|
| 1810043G02Rik |
A |
G |
10: 77,982,950 (GRCm38) |
N152D |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,534,365 (GRCm38) |
E662G |
probably benign |
Het |
| Acss3 |
A |
G |
10: 107,045,335 (GRCm38) |
S262P |
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,663,775 (GRCm38) |
V263A |
probably damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,473,404 (GRCm38) |
L454P |
probably damaging |
Het |
| Arrdc1 |
A |
T |
2: 24,926,152 (GRCm38) |
F280I |
possibly damaging |
Het |
| Atp8b1 |
G |
T |
18: 64,562,190 (GRCm38) |
H485N |
probably benign |
Het |
| Atrip |
A |
G |
9: 109,061,664 (GRCm38) |
S91P |
possibly damaging |
Het |
| Bcorl1 |
T |
C |
X: 48,369,360 (GRCm38) |
V590A |
probably benign |
Het |
| Brf1 |
C |
A |
12: 112,961,774 (GRCm38) |
R590S |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,148,922 (GRCm38) |
D197V |
possibly damaging |
Het |
| Ccr6 |
T |
C |
17: 8,256,452 (GRCm38) |
V163A |
probably damaging |
Het |
| Cct6b |
T |
C |
11: 82,741,391 (GRCm38) |
E257G |
probably damaging |
Het |
| Cdc42bpa |
A |
G |
1: 180,094,424 (GRCm38) |
D564G |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,629,586 (GRCm38) |
V434I |
probably benign |
Het |
| Cltc |
C |
T |
11: 86,697,340 (GRCm38) |
V1610M |
possibly damaging |
Het |
| Cnot4 |
A |
G |
6: 35,051,263 (GRCm38) |
F473L |
probably benign |
Het |
| Dock3 |
T |
C |
9: 107,062,055 (GRCm38) |
K165E |
probably damaging |
Het |
| Duox2 |
A |
T |
2: 122,285,153 (GRCm38) |
|
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,821,587 (GRCm38) |
S251G |
possibly damaging |
Het |
| Epn1 |
T |
A |
7: 5,095,036 (GRCm38) |
V282E |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,023,659 (GRCm38) |
L1914P |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,256,367 (GRCm38) |
I611T |
possibly damaging |
Het |
| Fgd6 |
G |
T |
10: 94,134,084 (GRCm38) |
M1198I |
probably damaging |
Het |
| Frmpd4 |
T |
A |
X: 167,492,935 (GRCm38) |
I379F |
probably damaging |
Het |
| Gm6614 |
A |
T |
6: 141,993,675 (GRCm38) |
C197* |
probably null |
Het |
| Grk4 |
T |
A |
5: 34,694,782 (GRCm38) |
D123E |
probably benign |
Het |
| Hc |
T |
G |
2: 35,009,911 (GRCm38) |
|
probably benign |
Het |
| Hfe |
T |
C |
13: 23,706,943 (GRCm38) |
E71G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,281,140 (GRCm38) |
|
probably benign |
Het |
| Ifnk |
G |
A |
4: 35,152,642 (GRCm38) |
|
probably benign |
Het |
| Kcnv1 |
C |
A |
15: 45,114,274 (GRCm38) |
G123C |
probably damaging |
Het |
| Kdelc2 |
T |
C |
9: 53,388,479 (GRCm38) |
L96S |
probably damaging |
Het |
| Klhl38 |
A |
T |
15: 58,323,237 (GRCm38) |
I32N |
possibly damaging |
Het |
| Lpl |
T |
C |
8: 68,895,800 (GRCm38) |
V227A |
probably damaging |
Het |
| Lurap1l |
A |
T |
4: 80,953,857 (GRCm38) |
S196C |
probably damaging |
Het |
| Mta1 |
T |
C |
12: 113,120,908 (GRCm38) |
L91P |
possibly damaging |
Het |
| Nelfe |
C |
A |
17: 34,854,354 (GRCm38) |
D288E |
probably benign |
Het |
| Olfr491 |
T |
A |
7: 108,317,201 (GRCm38) |
C102* |
probably null |
Het |
| Otof |
T |
C |
5: 30,370,784 (GRCm38) |
E1905G |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,543,866 (GRCm38) |
I148T |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,606,397 (GRCm38) |
V145F |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,172,274 (GRCm38) |
S4510P |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,752,089 (GRCm38) |
E641G |
probably damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,269,324 (GRCm38) |
T434M |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,518,245 (GRCm38) |
N184K |
possibly damaging |
Het |
| Prkar1a |
G |
A |
11: 109,660,175 (GRCm38) |
|
probably benign |
Het |
| Psmb1 |
A |
T |
17: 15,490,284 (GRCm38) |
M1K |
probably null |
Het |
| Pwwp2a |
T |
C |
11: 43,705,621 (GRCm38) |
S538P |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,672,753 (GRCm38) |
R516W |
probably damaging |
Het |
| Rnf103 |
A |
G |
6: 71,510,188 (GRCm38) |
D601G |
probably benign |
Het |
| Senp3 |
A |
G |
11: 69,674,530 (GRCm38) |
V467A |
possibly damaging |
Het |
| Slc8a3 |
T |
G |
12: 81,315,683 (GRCm38) |
T121P |
probably damaging |
Het |
| Srrt |
G |
A |
5: 137,296,274 (GRCm38) |
T790M |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,933,454 (GRCm38) |
|
probably null |
Het |
| Tas2r129 |
G |
A |
6: 132,951,394 (GRCm38) |
W98* |
probably null |
Het |
| Thoc5 |
A |
C |
11: 4,926,217 (GRCm38) |
M609L |
probably benign |
Het |
| Tnip1 |
G |
A |
11: 54,936,471 (GRCm38) |
T155M |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,788,328 (GRCm38) |
V14458A |
probably benign |
Het |
| Unc5cl |
A |
G |
17: 48,459,781 (GRCm38) |
E61G |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,986,481 (GRCm38) |
K151E |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 124,132,681 (GRCm38) |
M260V |
probably benign |
Het |
| Vwa7 |
G |
T |
17: 35,020,084 (GRCm38) |
R345L |
probably damaging |
Het |
| Zfp366 |
G |
T |
13: 99,234,188 (GRCm38) |
R472L |
possibly damaging |
Het |
| Zfp811 |
A |
T |
17: 32,798,642 (GRCm38) |
Y141* |
probably null |
Het |
| Zpbp |
C |
T |
11: 11,415,248 (GRCm38) |
E200K |
probably benign |
Het |
|
| Other mutations in Hephl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Hephl1
|
APN |
9 |
15,067,045 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01105:Hephl1
|
APN |
9 |
15,089,024 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01731:Hephl1
|
APN |
9 |
15,069,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02010:Hephl1
|
APN |
9 |
15,090,556 (GRCm38) |
nonsense |
probably null |
|
|
IGL02112:Hephl1
|
APN |
9 |
15,081,815 (GRCm38) |
splice site |
probably benign |
|
|
IGL02490:Hephl1
|
APN |
9 |
15,053,685 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02960:Hephl1
|
APN |
9 |
15,084,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03265:Hephl1
|
APN |
9 |
15,060,959 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0006:Hephl1
|
UTSW |
9 |
15,076,764 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0006:Hephl1
|
UTSW |
9 |
15,076,764 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0007:Hephl1
|
UTSW |
9 |
15,086,175 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0092:Hephl1
|
UTSW |
9 |
15,090,603 (GRCm38) |
frame shift |
probably null |
|
|
R0421:Hephl1
|
UTSW |
9 |
15,059,160 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0448:Hephl1
|
UTSW |
9 |
15,076,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0563:Hephl1
|
UTSW |
9 |
15,081,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0602:Hephl1
|
UTSW |
9 |
15,089,051 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0631:Hephl1
|
UTSW |
9 |
15,084,524 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0747:Hephl1
|
UTSW |
9 |
15,054,001 (GRCm38) |
splice site |
probably benign |
|
|
R1123:Hephl1
|
UTSW |
9 |
15,080,140 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1386:Hephl1
|
UTSW |
9 |
15,076,754 (GRCm38) |
missense |
probably benign |
|
|
R1711:Hephl1
|
UTSW |
9 |
15,059,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1743:Hephl1
|
UTSW |
9 |
15,090,068 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1833:Hephl1
|
UTSW |
9 |
15,076,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1908:Hephl1
|
UTSW |
9 |
15,074,124 (GRCm38) |
nonsense |
probably null |
|
|
R1918:Hephl1
|
UTSW |
9 |
15,076,818 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1938:Hephl1
|
UTSW |
9 |
15,053,987 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1986:Hephl1
|
UTSW |
9 |
15,054,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3122:Hephl1
|
UTSW |
9 |
15,088,969 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3832:Hephl1
|
UTSW |
9 |
15,069,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3833:Hephl1
|
UTSW |
9 |
15,069,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4280:Hephl1
|
UTSW |
9 |
15,112,034 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4434:Hephl1
|
UTSW |
9 |
15,076,796 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4790:Hephl1
|
UTSW |
9 |
15,059,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4793:Hephl1
|
UTSW |
9 |
15,097,990 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4960:Hephl1
|
UTSW |
9 |
15,086,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5125:Hephl1
|
UTSW |
9 |
15,086,172 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5152:Hephl1
|
UTSW |
9 |
15,080,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5178:Hephl1
|
UTSW |
9 |
15,086,172 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5288:Hephl1
|
UTSW |
9 |
15,076,854 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5372:Hephl1
|
UTSW |
9 |
15,097,899 (GRCm38) |
nonsense |
probably null |
|
|
R5377:Hephl1
|
UTSW |
9 |
15,069,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5788:Hephl1
|
UTSW |
9 |
15,084,283 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5795:Hephl1
|
UTSW |
9 |
15,069,760 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6210:Hephl1
|
UTSW |
9 |
15,090,564 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6303:Hephl1
|
UTSW |
9 |
15,090,152 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6394:Hephl1
|
UTSW |
9 |
15,074,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6653:Hephl1
|
UTSW |
9 |
15,081,964 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6764:Hephl1
|
UTSW |
9 |
15,088,921 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7114:Hephl1
|
UTSW |
9 |
15,069,815 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7143:Hephl1
|
UTSW |
9 |
15,060,810 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7404:Hephl1
|
UTSW |
9 |
15,069,751 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7446:Hephl1
|
UTSW |
9 |
15,098,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7447:Hephl1
|
UTSW |
9 |
15,097,882 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7715:Hephl1
|
UTSW |
9 |
15,060,785 (GRCm38) |
missense |
probably benign |
0.36 |
|
R8013:Hephl1
|
UTSW |
9 |
15,054,609 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8156:Hephl1
|
UTSW |
9 |
15,060,914 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8755:Hephl1
|
UTSW |
9 |
15,111,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8755:Hephl1
|
UTSW |
9 |
15,074,267 (GRCm38) |
missense |
probably benign |
|
|
R8777:Hephl1
|
UTSW |
9 |
15,060,794 (GRCm38) |
missense |
probably benign |
0.24 |
|
R8777-TAIL:Hephl1
|
UTSW |
9 |
15,060,794 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9090:Hephl1
|
UTSW |
9 |
15,076,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9155:Hephl1
|
UTSW |
9 |
15,089,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9271:Hephl1
|
UTSW |
9 |
15,076,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9287:Hephl1
|
UTSW |
9 |
15,084,479 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9487:Hephl1
|
UTSW |
9 |
15,084,534 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
X0026:Hephl1
|
UTSW |
9 |
15,084,228 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0066:Hephl1
|
UTSW |
9 |
15,053,668 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Hephl1
|
UTSW |
9 |
15,053,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Hephl1
|
UTSW |
9 |
15,090,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation