Incidental Mutation 'R6394:Hephl1'
ID |
515952 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
044543-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6394 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14985397 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 753
(F753S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159985
AA Change: F753S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: F753S
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: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap11 |
A |
T |
14: 78,760,029 (GRCm39) |
|
probably null |
Het |
Alpi |
T |
A |
1: 87,028,428 (GRCm39) |
Y154F |
possibly damaging |
Het |
Als2 |
A |
T |
1: 59,206,356 (GRCm39) |
F1635I |
probably damaging |
Het |
Anxa1 |
C |
T |
19: 20,361,213 (GRCm39) |
V60M |
probably damaging |
Het |
Atp10b |
A |
G |
11: 43,116,464 (GRCm39) |
Y937C |
probably damaging |
Het |
Brd4 |
C |
A |
17: 32,443,121 (GRCm39) |
E167* |
probably null |
Het |
Cacna1h |
G |
A |
17: 25,606,455 (GRCm39) |
T1048I |
probably benign |
Het |
Ccdc113 |
A |
G |
8: 96,283,820 (GRCm39) |
D298G |
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,394,605 (GRCm39) |
N74I |
possibly damaging |
Het |
Chd8 |
A |
T |
14: 52,440,042 (GRCm39) |
H4Q |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,284,524 (GRCm39) |
T621A |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,290,172 (GRCm39) |
T843A |
possibly damaging |
Het |
Clcn3 |
C |
T |
8: 61,394,325 (GRCm39) |
R68Q |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,132 (GRCm39) |
N355K |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,132,401 (GRCm39) |
C1100* |
probably null |
Het |
Dync2h1 |
A |
T |
9: 7,168,331 (GRCm39) |
V428E |
probably damaging |
Het |
E230025N22Rik |
T |
C |
18: 36,819,839 (GRCm39) |
E317G |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Evc2 |
C |
A |
5: 37,535,619 (GRCm39) |
D431E |
probably damaging |
Het |
Gcm2 |
T |
G |
13: 41,263,373 (GRCm39) |
T20P |
probably damaging |
Het |
Gdf9 |
A |
G |
11: 53,327,524 (GRCm39) |
Y160C |
probably damaging |
Het |
Gm8220 |
A |
G |
14: 44,523,134 (GRCm39) |
|
probably benign |
Het |
Gpalpp1 |
A |
T |
14: 76,344,852 (GRCm39) |
S44T |
possibly damaging |
Het |
Grip2 |
T |
C |
6: 91,764,182 (GRCm39) |
Y134C |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,302,341 (GRCm39) |
T727A |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,865,729 (GRCm39) |
E4232G |
probably damaging |
Het |
Ifi207 |
A |
G |
1: 173,556,581 (GRCm39) |
L726P |
probably benign |
Het |
Itga11 |
T |
A |
9: 62,642,548 (GRCm39) |
|
probably null |
Het |
Jrkl |
A |
C |
9: 13,245,495 (GRCm39) |
Y55* |
probably null |
Het |
Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
Kif18b |
A |
G |
11: 102,805,236 (GRCm39) |
V303A |
probably damaging |
Het |
Klhl29 |
A |
T |
12: 5,144,830 (GRCm39) |
C423* |
probably null |
Het |
Klhl29 |
T |
C |
12: 5,187,720 (GRCm39) |
S215G |
probably benign |
Het |
Lamp5 |
A |
G |
2: 135,902,929 (GRCm39) |
D216G |
possibly damaging |
Het |
Leo1 |
T |
A |
9: 75,352,752 (GRCm39) |
D98E |
probably benign |
Het |
Map3k3 |
T |
C |
11: 106,039,709 (GRCm39) |
V283A |
probably benign |
Het |
Med12l |
A |
G |
3: 59,142,508 (GRCm39) |
K902E |
probably damaging |
Het |
Mmp1b |
C |
A |
9: 7,386,316 (GRCm39) |
D202Y |
probably benign |
Het |
Muc21 |
A |
T |
17: 35,931,058 (GRCm39) |
|
probably benign |
Het |
Onecut3 |
A |
G |
10: 80,331,847 (GRCm39) |
I336V |
probably damaging |
Het |
Oprl1 |
C |
T |
2: 181,360,795 (GRCm39) |
R257C |
probably damaging |
Het |
Or10g9 |
T |
C |
9: 39,912,001 (GRCm39) |
Q174R |
probably benign |
Het |
Or10h1 |
G |
A |
17: 33,418,487 (GRCm39) |
G155D |
probably damaging |
Het |
Or4c11b |
C |
T |
2: 88,625,296 (GRCm39) |
T190I |
probably benign |
Het |
Or56b1 |
T |
A |
7: 104,284,909 (GRCm39) |
N9K |
possibly damaging |
Het |
Or56b1 |
T |
C |
7: 104,285,234 (GRCm39) |
S118P |
possibly damaging |
Het |
Or5p64 |
C |
T |
7: 107,854,970 (GRCm39) |
R125H |
possibly damaging |
Het |
Or6c69 |
G |
T |
10: 129,747,789 (GRCm39) |
D119E |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,386,298 (GRCm39) |
V207A |
probably benign |
Het |
Pde3a |
A |
T |
6: 141,433,237 (GRCm39) |
H756L |
probably damaging |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Phyh |
A |
G |
2: 4,940,814 (GRCm39) |
D238G |
probably benign |
Het |
Pnliprp2 |
T |
A |
19: 58,750,030 (GRCm39) |
N92K |
probably benign |
Het |
Pole3 |
T |
C |
4: 62,442,263 (GRCm39) |
|
probably benign |
Het |
Ppm1d |
T |
C |
11: 85,230,498 (GRCm39) |
V372A |
probably benign |
Het |
Prpf40a |
A |
T |
2: 53,034,890 (GRCm39) |
I766N |
probably damaging |
Het |
Prr5 |
T |
A |
15: 84,583,925 (GRCm39) |
V175E |
probably damaging |
Het |
Prss59 |
A |
T |
6: 40,898,726 (GRCm39) |
L174* |
probably null |
Het |
Ptprq |
T |
A |
10: 107,478,804 (GRCm39) |
K1280* |
probably null |
Het |
Rbp2 |
T |
A |
9: 98,389,873 (GRCm39) |
V95E |
possibly damaging |
Het |
Rictor |
T |
C |
15: 6,798,790 (GRCm39) |
F346L |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Scn10a |
T |
A |
9: 119,490,386 (GRCm39) |
I519F |
probably benign |
Het |
Setd5 |
T |
G |
6: 113,092,505 (GRCm39) |
V295G |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,786,176 (GRCm39) |
M642K |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,276,017 (GRCm39) |
G243E |
probably damaging |
Het |
Smg9 |
T |
C |
7: 24,121,732 (GRCm39) |
Y498H |
probably damaging |
Het |
Sox5 |
T |
C |
6: 143,987,039 (GRCm39) |
D175G |
probably damaging |
Het |
Stard7 |
A |
G |
2: 127,126,161 (GRCm39) |
D71G |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,774,975 (GRCm39) |
Y59* |
probably null |
Het |
Supt6 |
G |
A |
11: 78,121,891 (GRCm39) |
R254C |
probably damaging |
Het |
Syne2 |
C |
T |
12: 76,037,269 (GRCm39) |
T3817I |
probably benign |
Het |
Tas2r124 |
T |
A |
6: 132,732,039 (GRCm39) |
I116N |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,301,987 (GRCm39) |
E550D |
possibly damaging |
Het |
Vmn2r50 |
A |
G |
7: 9,774,253 (GRCm39) |
S548P |
probably damaging |
Het |
Zmynd8 |
C |
A |
2: 165,687,943 (GRCm39) |
E126* |
probably null |
Het |
Zswim9 |
A |
T |
7: 12,994,889 (GRCm39) |
S422R |
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 |
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 |
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'- CCAGAAGACAGAAGCGTCTCTC -3'
(R):5'- CCAGAAATCTCAAGTCATGGTCAC -3'
Sequencing Primer
(F):5'- GAAGACAGAAGCGTCTCTCATTTTC -3'
(R):5'- TCTCCTCAGGTATTTTCAAGGTG -3'
|
Posted On |
2018-05-04 |