Incidental Mutation 'R0602:Hephl1'
ID |
55490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
038791-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R0602 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 15000347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 302
(I302F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: I302F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: I302F
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 |
0.3850 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.7%
|
Validation Efficiency |
95% (58/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9430038I01Rik |
T |
C |
7: 136,978,090 (GRCm39) |
|
probably benign |
Het |
Arih1 |
A |
G |
9: 59,302,154 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
T |
C |
3: 97,113,102 (GRCm39) |
I1118V |
probably benign |
Het |
Cap1 |
T |
C |
4: 122,766,202 (GRCm39) |
E12G |
probably damaging |
Het |
Ccdc168 |
T |
A |
1: 44,099,127 (GRCm39) |
K657I |
possibly damaging |
Het |
Ccr2 |
A |
G |
9: 123,906,658 (GRCm39) |
I313V |
probably benign |
Het |
Cd1d2 |
T |
C |
3: 86,895,110 (GRCm39) |
S161P |
probably benign |
Het |
Cd226 |
C |
T |
18: 89,287,135 (GRCm39) |
T311I |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,369,063 (GRCm39) |
|
probably null |
Het |
Cspg4 |
T |
C |
9: 56,795,301 (GRCm39) |
F1012S |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,364,002 (GRCm39) |
M3541V |
probably damaging |
Het |
Erbb2 |
G |
A |
11: 98,325,097 (GRCm39) |
V852M |
probably damaging |
Het |
Fer1l6 |
A |
C |
15: 58,449,794 (GRCm39) |
T667P |
probably damaging |
Het |
Gal3st2c |
A |
G |
1: 93,936,901 (GRCm39) |
Y282C |
probably damaging |
Het |
Glp1r |
T |
C |
17: 31,128,201 (GRCm39) |
L60P |
probably benign |
Het |
Gtf2h2 |
A |
G |
13: 100,605,533 (GRCm39) |
V358A |
probably benign |
Het |
H2ac18 |
T |
C |
3: 96,152,866 (GRCm39) |
|
probably benign |
Het |
Lgi2 |
T |
C |
5: 52,711,765 (GRCm39) |
D185G |
probably damaging |
Het |
Lrtm1 |
T |
C |
14: 28,744,179 (GRCm39) |
|
probably benign |
Het |
Megf10 |
T |
G |
18: 57,395,172 (GRCm39) |
D511E |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,173,478 (GRCm39) |
|
probably null |
Het |
Nrbf2 |
G |
A |
10: 67,103,605 (GRCm39) |
T166M |
probably damaging |
Het |
Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
Ola1 |
A |
G |
2: 72,924,056 (GRCm39) |
Y368H |
probably damaging |
Het |
Or52s1 |
A |
C |
7: 102,861,787 (GRCm39) |
H229P |
possibly damaging |
Het |
Or9i1b |
A |
G |
19: 13,897,145 (GRCm39) |
T254A |
probably benign |
Het |
Or9q2 |
T |
C |
19: 13,772,026 (GRCm39) |
|
probably null |
Het |
Panx1 |
A |
G |
9: 14,921,500 (GRCm39) |
L125P |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,590,625 (GRCm39) |
|
probably benign |
Het |
Parp6 |
A |
G |
9: 59,556,648 (GRCm39) |
|
probably benign |
Het |
Pomgnt2 |
A |
G |
9: 121,811,339 (GRCm39) |
Y481H |
probably benign |
Het |
Ppp4c |
A |
G |
7: 126,388,254 (GRCm39) |
|
probably benign |
Het |
Prl8a8 |
T |
A |
13: 27,692,533 (GRCm39) |
|
probably benign |
Het |
Prpf40b |
C |
A |
15: 99,202,352 (GRCm39) |
A70E |
unknown |
Het |
Ptgfr |
G |
A |
3: 151,540,839 (GRCm39) |
T223M |
probably damaging |
Het |
Ptprc |
C |
T |
1: 138,017,223 (GRCm39) |
|
probably benign |
Het |
Rgs22 |
T |
C |
15: 36,140,018 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,371,313 (GRCm39) |
E344G |
possibly damaging |
Het |
Sgca |
A |
T |
11: 94,854,061 (GRCm39) |
I383N |
possibly damaging |
Het |
Sgms2 |
T |
A |
3: 131,118,756 (GRCm39) |
|
probably null |
Het |
Slc9b1 |
C |
A |
3: 135,103,516 (GRCm39) |
Q549K |
probably benign |
Het |
Smc4 |
G |
C |
3: 68,916,871 (GRCm39) |
A187P |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,062 (GRCm39) |
S47G |
probably damaging |
Het |
Sobp |
T |
A |
10: 42,898,385 (GRCm39) |
E400V |
probably damaging |
Het |
Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
Stil |
T |
A |
4: 114,881,620 (GRCm39) |
|
probably benign |
Het |
Sult3a2 |
A |
T |
10: 33,658,044 (GRCm39) |
M23K |
probably benign |
Het |
Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tcof1 |
C |
A |
18: 60,966,605 (GRCm39) |
G329W |
probably damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Vmn1r171 |
G |
T |
7: 23,332,602 (GRCm39) |
V276L |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,422,514 (GRCm39) |
L158P |
probably damaging |
Het |
Vps54 |
A |
G |
11: 21,256,434 (GRCm39) |
I634M |
possibly damaging |
Het |
Vwa8 |
T |
G |
14: 79,258,060 (GRCm39) |
S736R |
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 |
R0563:Hephl1
|
UTSW |
9 |
14,993,241 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AGGCTTGGGTGGGAAATTGACTCC -3'
(R):5'- CCACACACGGATTGTCTAGCTTTGG -3'
Sequencing Primer
(F):5'- CACATCTAGGCTCATGTTACAGG -3'
(R):5'- ATTGTCTAGCTTTGGTCCTGC -3'
|
Posted On |
2013-07-11 |