Incidental Mutation 'R7446:Hephl1'
ID |
577301 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
045522-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R7446 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15009347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 82
(T82A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: T82A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: T82A
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: 99.1%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,950,441 (GRCm39) |
D1446G |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,738,412 (GRCm39) |
Y635C |
probably damaging |
Het |
Akr1cl |
G |
A |
1: 65,055,837 (GRCm39) |
R222W |
probably damaging |
Het |
C2 |
G |
A |
17: 35,094,986 (GRCm39) |
R250C |
probably damaging |
Het |
Cdk15 |
A |
G |
1: 59,328,854 (GRCm39) |
Y254C |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,791,874 (GRCm39) |
T2576A |
possibly damaging |
Het |
Cfap61 |
C |
T |
2: 145,995,758 (GRCm39) |
R1108C |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,733,188 (GRCm39) |
S107P |
possibly damaging |
Het |
Cplane1 |
A |
G |
15: 8,261,564 (GRCm39) |
D2460G |
probably damaging |
Het |
Cpsf1 |
A |
G |
15: 76,485,950 (GRCm39) |
S407P |
probably benign |
Het |
Crisp4 |
T |
C |
1: 18,192,962 (GRCm39) |
T252A |
probably damaging |
Het |
Ctbs |
A |
G |
3: 146,164,573 (GRCm39) |
Y242C |
probably damaging |
Het |
Cul4a |
A |
G |
8: 13,186,874 (GRCm39) |
T537A |
probably benign |
Het |
D930020B18Rik |
T |
C |
10: 121,503,650 (GRCm39) |
I275T |
possibly damaging |
Het |
Dcaf7 |
T |
C |
11: 105,944,561 (GRCm39) |
V248A |
probably benign |
Het |
Def8 |
T |
C |
8: 124,181,061 (GRCm39) |
C153R |
probably damaging |
Het |
Dennd1a |
A |
T |
2: 37,706,991 (GRCm39) |
V505D |
possibly damaging |
Het |
Dpysl5 |
A |
C |
5: 30,936,231 (GRCm39) |
D207A |
probably benign |
Het |
Dync2h1 |
A |
T |
9: 7,041,720 (GRCm39) |
S3307R |
probably benign |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Erf |
A |
T |
7: 24,945,556 (GRCm39) |
C72S |
probably damaging |
Het |
Fastkd3 |
A |
T |
13: 68,740,079 (GRCm39) |
H47L |
unknown |
Het |
Gm5591 |
C |
T |
7: 38,218,933 (GRCm39) |
E647K |
probably benign |
Het |
Gng12 |
TGTCCAGCAAG |
TG |
6: 66,992,736 (GRCm39) |
|
probably benign |
Het |
Guk1 |
T |
C |
11: 59,076,850 (GRCm39) |
T78A |
probably benign |
Het |
Htra4 |
A |
G |
8: 25,527,181 (GRCm39) |
S205P |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,710,390 (GRCm39) |
D271G |
probably damaging |
Het |
Krt16 |
CAGTATCTG |
C |
11: 100,137,610 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
Lrp2 |
C |
A |
2: 69,262,557 (GRCm39) |
G4415W |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,290,018 (GRCm39) |
R3607H |
probably damaging |
Het |
Mcph1 |
A |
G |
8: 18,721,109 (GRCm39) |
K646E |
probably benign |
Het |
Mgam |
T |
C |
6: 40,723,266 (GRCm39) |
L457P |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,500,455 (GRCm39) |
S802T |
probably benign |
Het |
Mrgprb5 |
C |
T |
7: 47,818,252 (GRCm39) |
G161E |
possibly damaging |
Het |
Mroh1 |
G |
A |
15: 76,336,472 (GRCm39) |
G1565D |
possibly damaging |
Het |
Mynn |
A |
G |
3: 30,661,201 (GRCm39) |
K51R |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,803,065 (GRCm39) |
F872S |
possibly damaging |
Het |
Nbas |
A |
T |
12: 13,443,499 (GRCm39) |
T1185S |
probably benign |
Het |
Oas1d |
A |
T |
5: 121,058,054 (GRCm39) |
I333L |
probably benign |
Het |
Or10ak9 |
A |
T |
4: 118,726,019 (GRCm39) |
I14F |
possibly damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,061 (GRCm39) |
*312Q |
probably null |
Het |
P2ry12 |
A |
G |
3: 59,124,632 (GRCm39) |
*348Q |
probably null |
Het |
Pik3cb |
A |
T |
9: 98,928,711 (GRCm39) |
V848E |
probably damaging |
Het |
Plcz1 |
A |
C |
6: 139,959,312 (GRCm39) |
S282A |
possibly damaging |
Het |
Prss46 |
A |
G |
9: 110,679,189 (GRCm39) |
D130G |
probably damaging |
Het |
Pygl |
T |
C |
12: 70,243,784 (GRCm39) |
I644V |
probably benign |
Het |
Ralgds |
T |
A |
2: 28,435,901 (GRCm39) |
S509T |
probably damaging |
Het |
Rdh16f2 |
A |
G |
10: 127,712,767 (GRCm39) |
D255G |
probably benign |
Het |
Scaf4 |
T |
C |
16: 90,055,658 (GRCm39) |
D133G |
unknown |
Het |
Sdk1 |
G |
A |
5: 142,130,731 (GRCm39) |
S1630N |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,467,573 (GRCm39) |
T279I |
probably damaging |
Het |
Slc24a3 |
T |
A |
2: 145,422,902 (GRCm39) |
L207H |
probably damaging |
Het |
Speer2 |
A |
T |
16: 69,654,965 (GRCm39) |
S167T |
possibly damaging |
Het |
Spock1 |
A |
G |
13: 57,583,898 (GRCm39) |
I339T |
unknown |
Het |
Srsf6 |
T |
A |
2: 162,776,636 (GRCm39) |
S327T |
unknown |
Het |
Syne1 |
T |
A |
10: 5,172,266 (GRCm39) |
E5058D |
probably benign |
Het |
Tcf19 |
A |
G |
17: 35,825,428 (GRCm39) |
V243A |
probably benign |
Het |
Tspan15 |
T |
C |
10: 62,029,734 (GRCm39) |
D122G |
probably benign |
Het |
Ttc17 |
C |
T |
2: 94,205,495 (GRCm39) |
V284M |
probably damaging |
Het |
Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
Uspl1 |
T |
A |
5: 149,141,082 (GRCm39) |
C360* |
probably null |
Het |
Vmn1r181 |
A |
C |
7: 23,684,356 (GRCm39) |
S274R |
probably benign |
Het |
Xrcc5 |
T |
C |
1: 72,433,132 (GRCm39) |
|
probably null |
Het |
Zfp277 |
C |
T |
12: 40,378,729 (GRCm39) |
R376H |
probably damaging |
Het |
Zfp629 |
T |
C |
7: 127,210,201 (GRCm39) |
E536G |
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 |
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 |
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'- ACCTTCCGAATCCTTGTCGTAG -3'
(R):5'- TCATGCCTGTTGACGTATCC -3'
Sequencing Primer
(F):5'- TCCTTGTCGTAGAAAACACCGTGAG -3'
(R):5'- CTTCCACTTTGGCAAACTGAAAG -3'
|
Posted On |
2019-10-07 |