Incidental Mutation 'IGL02010:Hephl1'
ID |
183332 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL02010
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to C
at 15001852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 163
(Y163*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000159985
AA Change: Y163*
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: Y163*
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,110,442 (GRCm39) |
D569G |
probably benign |
Het |
Abhd17b |
C |
T |
19: 21,661,485 (GRCm39) |
T224I |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,873,626 (GRCm39) |
S695R |
probably benign |
Het |
Cdh6 |
A |
C |
15: 13,034,276 (GRCm39) |
|
probably benign |
Het |
Cep290 |
G |
T |
10: 100,344,569 (GRCm39) |
C462F |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,397,207 (GRCm39) |
S2156P |
probably benign |
Het |
Cfap20dc |
A |
T |
14: 8,578,384 (GRCm38) |
H119Q |
possibly damaging |
Het |
Cit |
T |
C |
5: 116,014,006 (GRCm39) |
F240L |
probably damaging |
Het |
Col1a2 |
T |
A |
6: 4,512,416 (GRCm39) |
|
probably null |
Het |
Ctcf |
T |
A |
8: 106,391,597 (GRCm39) |
H297Q |
probably damaging |
Het |
Dhx29 |
T |
C |
13: 113,103,168 (GRCm39) |
|
probably null |
Het |
Dhx37 |
T |
G |
5: 125,495,777 (GRCm39) |
T835P |
possibly damaging |
Het |
Enc1 |
C |
T |
13: 97,381,588 (GRCm39) |
L33F |
possibly damaging |
Het |
Epyc |
T |
A |
10: 97,485,563 (GRCm39) |
M1K |
probably null |
Het |
F10 |
T |
C |
8: 13,098,292 (GRCm39) |
I165T |
probably damaging |
Het |
Fam124a |
T |
C |
14: 62,824,728 (GRCm39) |
L74P |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,186,405 (GRCm39) |
S138G |
probably benign |
Het |
Fam81a |
T |
C |
9: 70,006,419 (GRCm39) |
K198E |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,170,794 (GRCm39) |
Y2199C |
probably damaging |
Het |
Fign |
A |
C |
2: 63,810,744 (GRCm39) |
S175R |
probably damaging |
Het |
Grik1 |
T |
C |
16: 87,848,396 (GRCm39) |
N124S |
possibly damaging |
Het |
Hdac9 |
G |
T |
12: 34,481,944 (GRCm39) |
L175M |
probably damaging |
Het |
Hes1 |
G |
A |
16: 29,886,128 (GRCm39) |
G244D |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,313,353 (GRCm39) |
L501P |
probably benign |
Het |
Igkv5-43 |
T |
C |
6: 69,752,936 (GRCm39) |
I49V |
probably benign |
Het |
Ipo5 |
T |
C |
14: 121,170,789 (GRCm39) |
S491P |
probably benign |
Het |
Jakmip2 |
C |
T |
18: 43,692,158 (GRCm39) |
|
probably null |
Het |
Lrfn5 |
A |
G |
12: 61,886,469 (GRCm39) |
T86A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,358,954 (GRCm39) |
T640A |
probably damaging |
Het |
M6pr |
G |
T |
6: 122,292,085 (GRCm39) |
R139L |
possibly damaging |
Het |
Myl9 |
A |
T |
2: 156,620,579 (GRCm39) |
N39Y |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,361 (GRCm39) |
D646G |
probably benign |
Het |
Nlrp5 |
A |
T |
7: 23,116,797 (GRCm39) |
M174L |
probably benign |
Het |
Nnmt |
T |
A |
9: 48,503,331 (GRCm39) |
I232F |
probably damaging |
Het |
Nrg1 |
T |
C |
8: 32,408,171 (GRCm39) |
T21A |
probably benign |
Het |
Or5t15 |
C |
T |
2: 86,681,541 (GRCm39) |
C167Y |
possibly damaging |
Het |
Or6c65 |
A |
G |
10: 129,604,136 (GRCm39) |
Y257C |
probably benign |
Het |
Pcare |
T |
A |
17: 72,056,459 (GRCm39) |
T1073S |
probably benign |
Het |
Pcdh7 |
T |
G |
5: 58,286,597 (GRCm39) |
N1224K |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,114,850 (GRCm39) |
|
probably null |
Het |
Pfkfb3 |
T |
C |
2: 11,488,805 (GRCm39) |
T320A |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,364,730 (GRCm39) |
|
probably benign |
Het |
Rabgap1l |
C |
T |
1: 160,299,641 (GRCm39) |
R584H |
probably damaging |
Het |
Rnf157 |
T |
A |
11: 116,287,052 (GRCm39) |
N57I |
probably damaging |
Het |
Rtf1 |
G |
A |
2: 119,531,747 (GRCm39) |
|
probably null |
Het |
Sap130 |
C |
A |
18: 31,782,655 (GRCm39) |
R189S |
probably damaging |
Het |
Slc34a1 |
T |
G |
13: 24,003,025 (GRCm39) |
V225G |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,785,369 (GRCm39) |
|
probably benign |
Het |
Tecta |
G |
A |
9: 42,248,489 (GRCm39) |
T1971I |
probably damaging |
Het |
Tlcd5 |
A |
T |
9: 43,022,859 (GRCm39) |
V165E |
probably damaging |
Het |
Tmem263 |
T |
A |
10: 84,950,274 (GRCm39) |
S22T |
probably benign |
Het |
Tnrc18 |
A |
T |
5: 142,773,049 (GRCm39) |
F410L |
unknown |
Het |
Ttc27 |
T |
G |
17: 75,087,906 (GRCm39) |
|
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,668 (GRCm39) |
C101S |
probably damaging |
Het |
Wdr17 |
T |
C |
8: 55,112,738 (GRCm39) |
K781E |
probably damaging |
Het |
Xkr6 |
C |
T |
14: 64,056,653 (GRCm39) |
T188M |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |