Incidental Mutation 'R5152:Hephl1'
ID |
395451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
042734-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R5152 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 14991481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 586
(D586Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: D586Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: D586Y
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 |
0.7630 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
99% (83/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,139,846 (GRCm39) |
S1503P |
probably benign |
Het |
Actn3 |
C |
A |
19: 4,913,572 (GRCm39) |
V620F |
probably damaging |
Het |
Adamtsl3 |
A |
G |
7: 82,223,752 (GRCm39) |
K252E |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,736,373 (GRCm39) |
Y509C |
probably damaging |
Het |
Arhgef2 |
G |
A |
3: 88,536,875 (GRCm39) |
|
probably null |
Het |
Bod1l |
T |
C |
5: 41,973,886 (GRCm39) |
E2476G |
probably benign |
Het |
Capn3 |
T |
C |
2: 120,331,811 (GRCm39) |
|
probably benign |
Het |
Catsperz |
T |
C |
19: 6,900,705 (GRCm39) |
T147A |
probably benign |
Het |
Cc2d1b |
C |
A |
4: 108,483,283 (GRCm39) |
A289E |
probably benign |
Het |
Ccdc170 |
A |
C |
10: 4,511,107 (GRCm39) |
H722P |
probably damaging |
Het |
Cdk13 |
C |
A |
13: 17,893,110 (GRCm39) |
A1358S |
probably benign |
Het |
Cntn6 |
T |
A |
6: 104,546,074 (GRCm39) |
|
probably benign |
Het |
Coch |
A |
G |
12: 51,642,225 (GRCm39) |
N66D |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,564,030 (GRCm39) |
S1732P |
probably damaging |
Het |
Copa |
T |
A |
1: 171,945,628 (GRCm39) |
V917E |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,445,828 (GRCm39) |
N3299K |
probably benign |
Het |
Cyp2c67 |
A |
T |
19: 39,627,132 (GRCm39) |
F233I |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,434 (GRCm39) |
H126L |
probably damaging |
Het |
Ddx46 |
T |
C |
13: 55,806,843 (GRCm39) |
L492P |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
Enpp5 |
C |
T |
17: 44,392,024 (GRCm39) |
P151L |
probably damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,397,327 (GRCm39) |
|
probably benign |
Het |
Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
Flg2 |
C |
A |
3: 93,122,284 (GRCm39) |
P1485T |
unknown |
Het |
Fmo5 |
A |
G |
3: 97,549,078 (GRCm39) |
Y242C |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,808,916 (GRCm39) |
T1745N |
probably benign |
Het |
Gata4 |
T |
A |
14: 63,478,570 (GRCm39) |
N10Y |
probably damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm4787 |
A |
C |
12: 81,425,451 (GRCm39) |
S236A |
probably benign |
Het |
Golga7 |
A |
C |
8: 23,735,965 (GRCm39) |
S94A |
probably benign |
Het |
Gpbp1 |
A |
G |
13: 111,589,815 (GRCm39) |
|
probably benign |
Het |
Grm1 |
A |
G |
10: 10,955,619 (GRCm39) |
Y222H |
probably benign |
Het |
Gstcd |
A |
G |
3: 132,790,717 (GRCm39) |
Y17H |
possibly damaging |
Het |
Hpn |
C |
A |
7: 30,799,261 (GRCm39) |
V35L |
probably damaging |
Het |
Il23r |
T |
A |
6: 67,400,725 (GRCm39) |
N535I |
probably damaging |
Het |
Inpp4a |
T |
C |
1: 37,397,616 (GRCm39) |
I45T |
possibly damaging |
Het |
Itgae |
G |
C |
11: 73,021,821 (GRCm39) |
G901R |
probably damaging |
Het |
Kif28 |
T |
C |
1: 179,530,103 (GRCm39) |
D686G |
probably damaging |
Het |
Kit |
A |
G |
5: 75,781,507 (GRCm39) |
E312G |
probably benign |
Het |
Lamb2 |
C |
A |
9: 108,364,937 (GRCm39) |
S1230R |
probably benign |
Het |
Lars1 |
A |
T |
18: 42,361,842 (GRCm39) |
D588E |
possibly damaging |
Het |
Lgr4 |
T |
A |
2: 109,830,948 (GRCm39) |
F292I |
probably damaging |
Het |
Lmf1 |
C |
T |
17: 25,874,493 (GRCm39) |
S458L |
probably damaging |
Het |
Lpin2 |
T |
A |
17: 71,552,154 (GRCm39) |
C787S |
probably damaging |
Het |
Ms4a4a |
A |
C |
19: 11,365,676 (GRCm39) |
I138L |
probably benign |
Het |
Mterf1a |
A |
T |
5: 3,940,984 (GRCm39) |
F295I |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,577,432 (GRCm39) |
K241* |
probably null |
Het |
Muc5b |
T |
C |
7: 141,419,268 (GRCm39) |
F4017S |
possibly damaging |
Het |
Nfkbil1 |
T |
C |
17: 35,440,384 (GRCm39) |
|
probably benign |
Het |
Or10d5j |
T |
C |
9: 39,868,202 (GRCm39) |
T22A |
probably benign |
Het |
Or4x6 |
A |
G |
2: 89,949,465 (GRCm39) |
L159P |
probably damaging |
Het |
Or8g21 |
A |
T |
9: 38,906,473 (GRCm39) |
V86E |
possibly damaging |
Het |
Osgep |
T |
C |
14: 51,155,315 (GRCm39) |
D81G |
probably damaging |
Het |
Otos |
A |
G |
1: 92,572,116 (GRCm39) |
F70S |
probably damaging |
Het |
Pcdhb2 |
T |
A |
18: 37,429,179 (GRCm39) |
V384D |
probably damaging |
Het |
Ppp1r10 |
C |
T |
17: 36,240,144 (GRCm39) |
P514S |
probably damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,830 (GRCm39) |
P37L |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,430,559 (GRCm39) |
Y309H |
probably damaging |
Het |
Rap1gds1 |
A |
T |
3: 138,661,962 (GRCm39) |
D382E |
probably damaging |
Het |
Reln |
A |
G |
5: 22,153,627 (GRCm39) |
F2226L |
probably damaging |
Het |
Rmi2 |
C |
T |
16: 10,657,765 (GRCm39) |
T125M |
probably damaging |
Het |
Setd1a |
C |
T |
7: 127,383,197 (GRCm39) |
T231I |
probably benign |
Het |
Sftpa1 |
G |
A |
14: 40,856,309 (GRCm39) |
G218D |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,786,138 (GRCm39) |
F655I |
probably damaging |
Het |
Slc5a7 |
T |
C |
17: 54,585,861 (GRCm39) |
I319V |
possibly damaging |
Het |
Sp140l2 |
G |
A |
1: 85,239,581 (GRCm39) |
P19S |
probably benign |
Het |
Spata31d1c |
C |
T |
13: 65,183,409 (GRCm39) |
T317I |
probably damaging |
Het |
Speg |
C |
T |
1: 75,404,742 (GRCm39) |
P2845S |
possibly damaging |
Het |
Synpo2 |
A |
G |
3: 123,029,550 (GRCm39) |
|
probably null |
Het |
Tdpoz9 |
T |
C |
3: 93,957,451 (GRCm39) |
|
probably benign |
Het |
Tdrd7 |
T |
A |
4: 46,013,191 (GRCm39) |
S644T |
probably damaging |
Het |
Tmem182 |
T |
A |
1: 40,877,460 (GRCm39) |
Y112N |
probably damaging |
Het |
Usp45 |
T |
A |
4: 21,824,815 (GRCm39) |
N522K |
probably benign |
Het |
Vnn3 |
A |
T |
10: 23,740,237 (GRCm39) |
Y180F |
probably benign |
Het |
Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
Xrn1 |
A |
T |
9: 95,846,118 (GRCm39) |
D57V |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,486,357 (GRCm39) |
V344A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGTTCATGAATCTGAAGGC -3'
(R):5'- CCTGTGAGGCAAACAACAGC -3'
Sequencing Primer
(F):5'- GGCATGAAATTATTTACTTCCTGACC -3'
(R):5'- GCATGTTAGAGACAGGTGGAC -3'
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Posted On |
2016-06-21 |