Incidental Mutation 'R0563:Hephl1'
ID |
46014 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
038754-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R0563 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14993241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 531
(D531G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: D531G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: D531G
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 |
|
Meta Mutation Damage Score |
0.5836 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
G |
T |
1: 25,586,635 (GRCm39) |
P146T |
probably damaging |
Het |
Ambn |
A |
C |
5: 88,611,309 (GRCm39) |
N163T |
probably benign |
Het |
Ankrd36 |
A |
T |
11: 5,579,322 (GRCm39) |
E870D |
probably benign |
Het |
Cdc123 |
T |
C |
2: 5,803,212 (GRCm39) |
N269S |
probably benign |
Het |
Cdc7 |
A |
T |
5: 107,120,776 (GRCm39) |
|
probably benign |
Het |
Cdh2 |
A |
T |
18: 16,762,738 (GRCm39) |
V402D |
possibly damaging |
Het |
Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
Dcdc5 |
G |
A |
2: 106,180,035 (GRCm39) |
|
noncoding transcript |
Het |
Eif4g3 |
T |
C |
4: 137,903,151 (GRCm39) |
|
probably benign |
Het |
Elovl4 |
C |
T |
9: 83,667,087 (GRCm39) |
|
probably null |
Het |
Fhl5 |
T |
G |
4: 25,213,610 (GRCm39) |
I109L |
probably damaging |
Het |
Gm16181 |
A |
G |
17: 35,442,872 (GRCm39) |
|
probably benign |
Het |
Gna14 |
A |
G |
19: 16,585,483 (GRCm39) |
Y287C |
probably benign |
Het |
Greb1 |
A |
T |
12: 16,730,268 (GRCm39) |
C1720S |
probably benign |
Het |
Gypa |
T |
A |
8: 81,236,089 (GRCm39) |
S165T |
probably benign |
Het |
Hsf2bp |
A |
T |
17: 32,226,692 (GRCm39) |
L221Q |
probably damaging |
Het |
Itsn1 |
A |
G |
16: 91,617,684 (GRCm39) |
|
probably benign |
Het |
Kif7 |
T |
C |
7: 79,352,020 (GRCm39) |
E914G |
probably benign |
Het |
Lrp1b |
T |
C |
2: 40,640,926 (GRCm39) |
D3506G |
probably benign |
Het |
Lrrc28 |
T |
C |
7: 67,195,135 (GRCm39) |
N225S |
probably damaging |
Het |
Lysmd4 |
T |
A |
7: 66,875,925 (GRCm39) |
L196Q |
probably benign |
Het |
Megf8 |
T |
C |
7: 25,041,820 (GRCm39) |
C1245R |
probably damaging |
Het |
Mgat4f |
A |
G |
1: 134,317,777 (GRCm39) |
K183R |
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mindy2 |
T |
A |
9: 70,538,334 (GRCm39) |
I334L |
possibly damaging |
Het |
Mrm1 |
A |
G |
11: 84,705,539 (GRCm39) |
S287P |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,234,056 (GRCm39) |
I382T |
probably damaging |
Het |
Nectin1 |
A |
G |
9: 43,702,342 (GRCm39) |
T30A |
probably benign |
Het |
Nelfe |
A |
G |
17: 35,073,215 (GRCm39) |
E250G |
possibly damaging |
Het |
Nsd1 |
C |
A |
13: 55,394,391 (GRCm39) |
T767K |
possibly damaging |
Het |
Or1i2 |
G |
A |
10: 78,448,467 (GRCm39) |
P3S |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,625,013 (GRCm39) |
K227* |
probably null |
Het |
Or4e5 |
T |
A |
14: 52,727,714 (GRCm39) |
K236* |
probably null |
Het |
Or5b111 |
A |
G |
19: 13,291,112 (GRCm39) |
I179T |
probably benign |
Het |
Pcnx1 |
A |
G |
12: 81,964,718 (GRCm39) |
D295G |
probably damaging |
Het |
Pex14 |
A |
G |
4: 149,046,003 (GRCm39) |
V309A |
possibly damaging |
Het |
Phf14 |
C |
T |
6: 11,933,600 (GRCm39) |
|
probably benign |
Het |
Pnpla6 |
A |
G |
8: 3,573,333 (GRCm39) |
D399G |
possibly damaging |
Het |
Prim1 |
A |
G |
10: 127,862,423 (GRCm39) |
D340G |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,454,207 (GRCm39) |
F564L |
probably damaging |
Het |
Rcc1l |
G |
C |
5: 134,205,394 (GRCm39) |
R54G |
probably benign |
Het |
Rnf151 |
G |
A |
17: 24,936,430 (GRCm39) |
|
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,192,048 (GRCm39) |
L398P |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,769,174 (GRCm39) |
T531I |
probably benign |
Het |
Rps6ka2 |
A |
T |
17: 7,521,836 (GRCm39) |
I198F |
probably damaging |
Het |
Sgk2 |
T |
C |
2: 162,846,164 (GRCm39) |
L264P |
probably damaging |
Het |
Slc26a6 |
T |
A |
9: 108,734,869 (GRCm39) |
I281N |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,935,921 (GRCm39) |
K2657N |
probably benign |
Het |
Tor1aip1 |
G |
A |
1: 155,911,554 (GRCm39) |
T143M |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,284,609 (GRCm39) |
D358G |
probably benign |
Het |
Vstm2b |
T |
C |
7: 40,551,899 (GRCm39) |
S76P |
probably damaging |
Het |
Wdr33 |
A |
G |
18: 32,019,792 (GRCm39) |
K488R |
possibly damaging |
Het |
Ythdc2 |
T |
A |
18: 44,997,915 (GRCm39) |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGCTCTGTGCCTCAACAGCAA -3'
(R):5'- GCCTGGCAAGCCTGGTGTTCTT -3'
Sequencing Primer
(F):5'- TCATGGATGTGCCCAAGTC -3'
(R):5'- TTGGCTGTGTGCCAACC -3'
|
Posted On |
2013-06-11 |