Incidental Mutation 'R5788:Hephl1'
ID |
448155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
043382-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5788 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 14995579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 483
(L483S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159985
AA Change: L483S
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: L483S
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 |
0.3073 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadsb |
A |
G |
7: 131,045,328 (GRCm39) |
Y420C |
probably benign |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,726,942 (GRCm39) |
R90S |
probably damaging |
Het |
Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
Ano5 |
G |
A |
7: 51,216,066 (GRCm39) |
D348N |
possibly damaging |
Het |
Atp8a2 |
T |
A |
14: 60,258,242 (GRCm39) |
D440V |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,177,178 (GRCm39) |
D2022G |
probably damaging |
Het |
Bicd1 |
T |
C |
6: 149,385,498 (GRCm39) |
F77S |
probably benign |
Het |
Ccdc66 |
C |
T |
14: 27,220,448 (GRCm39) |
R255H |
probably benign |
Het |
Ckm |
A |
G |
7: 19,153,372 (GRCm39) |
D152G |
probably benign |
Het |
Cpsf7 |
T |
G |
19: 10,518,082 (GRCm39) |
S431A |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 16,251,980 (GRCm39) |
T959A |
probably damaging |
Het |
Dkk4 |
T |
C |
8: 23,115,347 (GRCm39) |
C66R |
probably damaging |
Het |
Espl1 |
T |
A |
15: 102,232,465 (GRCm39) |
W2058R |
probably damaging |
Het |
Evi5l |
A |
T |
8: 4,256,800 (GRCm39) |
|
probably benign |
Het |
Fancg |
A |
T |
4: 43,007,130 (GRCm39) |
|
probably benign |
Het |
Flg2 |
A |
T |
3: 93,108,296 (GRCm39) |
H108L |
probably benign |
Het |
Fzd2 |
A |
T |
11: 102,496,293 (GRCm39) |
T246S |
probably benign |
Het |
Gm10428 |
T |
G |
11: 62,644,107 (GRCm39) |
|
probably benign |
Het |
Gm1988 |
T |
A |
7: 38,821,627 (GRCm39) |
|
noncoding transcript |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm7133 |
A |
T |
1: 97,171,201 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,717,962 (GRCm39) |
N710S |
probably benign |
Het |
Hcn2 |
T |
C |
10: 79,552,945 (GRCm39) |
V148A |
possibly damaging |
Het |
Hinfp |
C |
T |
9: 44,209,105 (GRCm39) |
E338K |
possibly damaging |
Het |
Hsd17b4 |
G |
A |
18: 50,306,776 (GRCm39) |
D494N |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,866,277 (GRCm39) |
V801M |
probably benign |
Het |
Kcns2 |
A |
C |
15: 34,839,000 (GRCm39) |
Y121S |
probably benign |
Het |
Kif1c |
T |
A |
11: 70,599,654 (GRCm39) |
L462H |
probably damaging |
Het |
Lrrk2 |
T |
G |
15: 91,648,851 (GRCm39) |
V1615G |
possibly damaging |
Het |
Naca |
G |
A |
10: 127,876,011 (GRCm39) |
|
probably benign |
Het |
Naip6 |
G |
T |
13: 100,436,724 (GRCm39) |
Q600K |
probably benign |
Het |
Ndufs2 |
A |
G |
1: 171,066,954 (GRCm39) |
Y135H |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,965,114 (GRCm39) |
V1566A |
probably benign |
Het |
Or52d13 |
C |
T |
7: 103,110,086 (GRCm39) |
V110I |
possibly damaging |
Het |
Or52n4b |
T |
C |
7: 108,144,551 (GRCm39) |
I271T |
probably damaging |
Het |
Or5t17 |
A |
G |
2: 86,832,645 (GRCm39) |
T111A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,336,779 (GRCm39) |
M1V |
probably null |
Het |
Or6c75 |
A |
T |
10: 129,336,763 (GRCm39) |
L3F |
probably benign |
Het |
Pcid2 |
C |
T |
8: 13,150,320 (GRCm39) |
|
probably null |
Het |
Pld4 |
A |
C |
12: 112,730,551 (GRCm39) |
I145L |
probably benign |
Het |
Pogk |
A |
T |
1: 166,236,580 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
T |
3: 88,152,874 (GRCm39) |
V280I |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,250 (GRCm39) |
F374S |
possibly damaging |
Het |
Son |
A |
G |
16: 91,456,940 (GRCm39) |
|
probably benign |
Het |
Specc1l |
G |
T |
10: 75,112,755 (GRCm39) |
R994L |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,531 (GRCm39) |
D23E |
probably damaging |
Het |
Teddm2 |
A |
T |
1: 153,726,810 (GRCm39) |
H21Q |
probably benign |
Het |
Tet1 |
T |
C |
10: 62,675,737 (GRCm39) |
T780A |
possibly damaging |
Het |
Thbs1 |
T |
A |
2: 117,952,989 (GRCm39) |
D866E |
probably damaging |
Het |
Tmed4 |
A |
G |
11: 6,221,743 (GRCm39) |
W198R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,749,575 (GRCm39) |
C3825S |
probably benign |
Het |
Uchl1 |
T |
A |
5: 66,833,754 (GRCm39) |
|
probably benign |
Het |
Wsb2 |
A |
G |
5: 117,515,483 (GRCm39) |
T363A |
possibly damaging |
Het |
Zfp266 |
A |
G |
9: 20,417,332 (GRCm39) |
Y19H |
probably damaging |
Het |
Zkscan17 |
A |
G |
11: 59,378,086 (GRCm39) |
C366R |
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 |
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'- ATAAGCATCTCCCTCCGCT -3'
(R):5'- CCTTGGTACATGCATCCTGA -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CATCCTGATGCTTTGAAGGGG -3'
|
Posted On |
2016-12-15 |