Incidental Mutation 'R7114:Hephl1'
ID |
551682 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
045244-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R7114 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14981111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 774
(E774K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: E774K
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: E774K
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,900,445 (GRCm39) |
A1291T |
probably benign |
Het |
Anks1b |
G |
A |
10: 90,143,560 (GRCm39) |
R523Q |
probably damaging |
Het |
Arhgap12 |
T |
A |
18: 6,028,056 (GRCm39) |
I690F |
probably damaging |
Het |
Caln1 |
T |
C |
5: 130,868,124 (GRCm39) |
V220A |
possibly damaging |
Het |
Cd79b |
T |
A |
11: 106,202,713 (GRCm39) |
T263S |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,379,220 (GRCm39) |
K67N |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
Col25a1 |
A |
G |
3: 130,389,324 (GRCm39) |
I636V |
probably benign |
Het |
Col9a3 |
C |
T |
2: 180,245,590 (GRCm39) |
P154S |
unknown |
Het |
Cyp3a11 |
T |
A |
5: 145,795,593 (GRCm39) |
M453L |
probably benign |
Het |
Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
Eno1b |
T |
C |
18: 48,180,560 (GRCm39) |
V246A |
possibly damaging |
Het |
Eogt |
T |
C |
6: 97,092,965 (GRCm39) |
Y404C |
probably damaging |
Het |
Ephx3 |
T |
A |
17: 32,404,006 (GRCm39) |
E380V |
possibly damaging |
Het |
Fancl |
T |
C |
11: 26,357,615 (GRCm39) |
L114P |
probably damaging |
Het |
Flad1 |
C |
T |
3: 89,314,837 (GRCm39) |
G287S |
probably benign |
Het |
Gcm1 |
G |
T |
9: 77,967,061 (GRCm39) |
K93N |
probably damaging |
Het |
Golga3 |
T |
A |
5: 110,350,578 (GRCm39) |
D704E |
probably benign |
Het |
Grb14 |
A |
C |
2: 64,747,197 (GRCm39) |
I451S |
probably damaging |
Het |
Gtf3c3 |
T |
C |
1: 54,462,666 (GRCm39) |
N366D |
probably benign |
Het |
Hecw1 |
A |
T |
13: 14,486,356 (GRCm39) |
H376Q |
probably benign |
Het |
Helb |
A |
T |
10: 119,941,161 (GRCm39) |
V509E |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,229,622 (GRCm39) |
E685G |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,894,519 (GRCm39) |
T2016A |
probably benign |
Het |
Igkv5-43 |
T |
G |
6: 69,800,515 (GRCm39) |
Q57H |
probably damaging |
Het |
Lamc3 |
T |
A |
2: 31,820,657 (GRCm39) |
V1224E |
probably damaging |
Het |
Lgals3bp |
C |
T |
11: 118,284,309 (GRCm39) |
W423* |
probably null |
Het |
Mcm9 |
G |
A |
10: 53,414,669 (GRCm39) |
T137I |
possibly damaging |
Het |
Mdga1 |
C |
A |
17: 30,061,816 (GRCm39) |
|
probably null |
Het |
Mocos |
C |
T |
18: 24,799,572 (GRCm39) |
P269S |
probably damaging |
Het |
Naa40 |
A |
G |
19: 7,207,322 (GRCm39) |
V134A |
probably damaging |
Het |
Neb |
G |
A |
2: 52,082,571 (GRCm39) |
L5680F |
probably damaging |
Het |
Nedd9 |
A |
G |
13: 41,492,099 (GRCm39) |
V137A |
probably benign |
Het |
Nup133 |
T |
C |
8: 124,642,112 (GRCm39) |
I784V |
probably benign |
Het |
Nup214 |
T |
C |
2: 31,915,256 (GRCm39) |
S1147P |
possibly damaging |
Het |
Or10x4 |
A |
T |
1: 174,218,805 (GRCm39) |
M57L |
probably damaging |
Het |
Or8g28 |
G |
T |
9: 39,169,897 (GRCm39) |
Q24K |
possibly damaging |
Het |
Plcb4 |
T |
A |
2: 135,824,043 (GRCm39) |
|
probably null |
Het |
Pomt1 |
C |
T |
2: 32,143,848 (GRCm39) |
T671I |
probably benign |
Het |
Pomt2 |
G |
T |
12: 87,157,150 (GRCm39) |
P723H |
probably damaging |
Het |
Prpf8 |
T |
A |
11: 75,394,181 (GRCm39) |
Y1741* |
probably null |
Het |
Ptprs |
C |
G |
17: 56,758,697 (GRCm39) |
V175L |
probably benign |
Het |
Slc36a4 |
T |
C |
9: 15,633,250 (GRCm39) |
F95L |
probably benign |
Het |
Smn1 |
C |
T |
13: 100,267,648 (GRCm39) |
P225S |
probably benign |
Het |
Snrpa |
A |
T |
7: 26,891,174 (GRCm39) |
I99N |
probably benign |
Het |
Tgm5 |
G |
T |
2: 120,878,977 (GRCm39) |
Y588* |
probably null |
Het |
Tmeff2 |
T |
A |
1: 51,224,404 (GRCm39) |
|
probably null |
Het |
Tmem120b |
T |
C |
5: 123,254,741 (GRCm39) |
F314S |
probably damaging |
Het |
Trim43b |
C |
T |
9: 88,967,661 (GRCm39) |
R325H |
probably benign |
Het |
Vmn1r26 |
C |
T |
6: 57,985,755 (GRCm39) |
A145T |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,693,531 (GRCm39) |
|
probably null |
Het |
Wnt5a |
C |
A |
14: 28,244,713 (GRCm39) |
T320K |
probably damaging |
Het |
Wrn |
AGCAGGTAATACATACCG |
AG |
8: 33,775,149 (GRCm39) |
|
probably null |
Het |
Zfp398 |
T |
C |
6: 47,842,910 (GRCm39) |
S321P |
probably benign |
Het |
Zfp959 |
T |
A |
17: 56,205,501 (GRCm39) |
C513S |
possibly damaging |
Het |
Zfr2 |
A |
G |
10: 81,080,559 (GRCm39) |
D411G |
probably damaging |
Het |
Zkscan5 |
T |
A |
5: 145,147,988 (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 |
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 |
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'- TATGAGACACCAGGTAGACTGCC -3'
(R):5'- TAGCCCTGCTCTCAGAGATG -3'
Sequencing Primer
(F):5'- AGGTAGACTGCCCTGAGGAC -3'
(R):5'- CTCTCAGAGATGGTGCAAAAGCC -3'
|
Posted On |
2019-05-15 |