Incidental Mutation 'R3832:Hephl1'
ID |
274063 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
040887-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R3832 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14981044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 796
(E796G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: E796G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: E796G
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 |
0.1305 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
98% (54/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
A |
C |
15: 94,229,339 (GRCm39) |
C927G |
probably damaging |
Het |
Afdn |
T |
A |
17: 14,116,436 (GRCm39) |
D190E |
probably benign |
Het |
Aldh1a7 |
T |
C |
19: 20,685,602 (GRCm39) |
Y316C |
probably damaging |
Het |
Arhgef38 |
T |
C |
3: 132,912,686 (GRCm39) |
R118G |
possibly damaging |
Het |
Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
Cacna1i |
T |
C |
15: 80,240,388 (GRCm39) |
F370S |
probably damaging |
Het |
Cacnb2 |
A |
T |
2: 14,986,236 (GRCm39) |
I338F |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,526,097 (GRCm39) |
M238V |
probably damaging |
Het |
Ccdc3 |
A |
G |
2: 5,233,953 (GRCm39) |
N259S |
probably benign |
Het |
Cep55 |
A |
G |
19: 38,041,560 (GRCm39) |
|
probably benign |
Het |
Col6a1 |
T |
C |
10: 76,546,951 (GRCm39) |
D757G |
unknown |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyb5d2 |
G |
T |
11: 72,686,349 (GRCm39) |
S80R |
possibly damaging |
Het |
Cyfip2 |
T |
C |
11: 46,152,333 (GRCm39) |
D485G |
probably benign |
Het |
Cyp27b1 |
G |
T |
10: 126,886,929 (GRCm39) |
V382L |
probably damaging |
Het |
Erich3 |
G |
A |
3: 154,467,998 (GRCm39) |
V817M |
probably damaging |
Het |
Gdf6 |
T |
C |
4: 9,844,568 (GRCm39) |
S31P |
probably benign |
Het |
Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
Iglv2 |
A |
T |
16: 19,079,593 (GRCm39) |
M1K |
probably null |
Het |
Kif26b |
GAAA |
GAA |
1: 178,744,181 (GRCm39) |
|
probably null |
Het |
Klhl28 |
C |
A |
12: 64,998,195 (GRCm39) |
G433V |
probably damaging |
Het |
Lipn |
T |
C |
19: 34,046,933 (GRCm39) |
|
probably null |
Het |
Lypd10 |
T |
A |
7: 24,413,712 (GRCm39) |
S243T |
probably benign |
Het |
Mapk7 |
A |
G |
11: 61,380,680 (GRCm39) |
S641P |
possibly damaging |
Het |
Med22 |
A |
G |
2: 26,800,379 (GRCm39) |
S17P |
probably damaging |
Het |
Or14c44 |
A |
T |
7: 86,062,401 (GRCm39) |
Y277F |
probably damaging |
Het |
Or14j5 |
T |
C |
17: 38,162,071 (GRCm39) |
V196A |
probably benign |
Het |
Otud1 |
G |
C |
2: 19,662,951 (GRCm39) |
A27P |
possibly damaging |
Het |
Pcdhga6 |
A |
T |
18: 37,841,479 (GRCm39) |
N400Y |
probably damaging |
Het |
Pdgfd |
T |
C |
9: 6,359,762 (GRCm39) |
S278P |
probably damaging |
Het |
Pdzd7 |
A |
T |
19: 45,028,693 (GRCm39) |
V150E |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,165,667 (GRCm39) |
S754G |
probably benign |
Het |
Phf14 |
A |
G |
6: 11,933,873 (GRCm39) |
|
probably null |
Het |
Phlpp1 |
G |
A |
1: 106,320,327 (GRCm39) |
E1441K |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,214,733 (GRCm39) |
|
probably null |
Het |
Pikfyve |
G |
A |
1: 65,283,579 (GRCm39) |
V739I |
probably damaging |
Het |
Plcg1 |
T |
G |
2: 160,596,357 (GRCm39) |
M651R |
possibly damaging |
Het |
Prex2 |
T |
C |
1: 11,226,588 (GRCm39) |
|
probably benign |
Het |
Pus3 |
G |
C |
9: 35,477,874 (GRCm39) |
G369R |
probably benign |
Het |
Rab11fip1 |
G |
A |
8: 27,642,774 (GRCm39) |
T675I |
probably benign |
Het |
Scarf1 |
T |
C |
11: 75,406,078 (GRCm39) |
C121R |
probably damaging |
Het |
Sco1 |
T |
C |
11: 66,944,605 (GRCm39) |
V76A |
probably damaging |
Het |
Slc39a8 |
T |
A |
3: 135,554,894 (GRCm39) |
C113S |
probably damaging |
Het |
Slit3 |
A |
T |
11: 35,579,509 (GRCm39) |
S1229C |
probably null |
Het |
Snd1 |
G |
T |
6: 28,531,403 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,960,292 (GRCm39) |
S182G |
probably damaging |
Het |
Tecta |
A |
C |
9: 42,250,329 (GRCm39) |
F1816C |
probably damaging |
Het |
Tekt1 |
T |
C |
11: 72,245,645 (GRCm39) |
N170S |
probably benign |
Het |
Trim47 |
T |
C |
11: 115,998,783 (GRCm39) |
T279A |
probably benign |
Het |
Ttll4 |
A |
G |
1: 74,725,550 (GRCm39) |
K653E |
probably damaging |
Het |
Vcam1 |
T |
C |
3: 115,908,140 (GRCm39) |
T641A |
possibly damaging |
Het |
Vmn1r16 |
A |
G |
6: 57,300,212 (GRCm39) |
F137L |
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,576,262 (GRCm39) |
W378R |
probably damaging |
Het |
Zfp777 |
T |
C |
6: 48,021,149 (GRCm39) |
T158A |
probably benign |
Het |
Zp1 |
T |
C |
19: 10,893,888 (GRCm39) |
D439G |
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 |
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'- AGTATGAGACACCAGGTAGACTGC -3'
(R):5'- CTCAGAGATGGTGCAAAAGCC -3'
Sequencing Primer
(F):5'- AGGTAGACTGCCCTGAGGAC -3'
(R):5'- GATGGTGCAAAAGCCAACTC -3'
|
Posted On |
2015-04-02 |