Incidental Mutation 'R6210:Hephl1'
ID |
503409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hephl1
|
Ensembl Gene |
ENSMUSG00000031936 |
Gene Name |
hephaestin-like 1 |
Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
MMRRC Submission |
044344-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
R6210 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15001860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 161
(Y161H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
AlphaFold |
Q3V1H3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159985
AA Change: Y161H
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124518 Gene: ENSMUSG00000031936 AA Change: Y161H
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 |
0.2252 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
95% (52/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
T |
A |
18: 10,706,032 (GRCm39) |
I94F |
probably damaging |
Het |
Bbox1 |
A |
T |
2: 110,100,422 (GRCm39) |
D258E |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,378,827 (GRCm39) |
|
probably null |
Het |
Ccdc127 |
T |
C |
13: 74,505,040 (GRCm39) |
V196A |
probably benign |
Het |
Cd101 |
A |
T |
3: 100,925,959 (GRCm39) |
D253E |
probably damaging |
Het |
Ceacam15 |
T |
C |
7: 16,407,214 (GRCm39) |
Y101C |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,772,570 (GRCm39) |
L652F |
probably benign |
Het |
Col5a1 |
G |
T |
2: 27,922,633 (GRCm39) |
V234L |
probably benign |
Het |
Cxcr6 |
T |
C |
9: 123,639,073 (GRCm39) |
S25P |
possibly damaging |
Het |
Dctn4 |
C |
T |
18: 60,679,865 (GRCm39) |
Q258* |
probably null |
Het |
Fmnl2 |
A |
T |
2: 53,020,457 (GRCm39) |
N1067I |
possibly damaging |
Het |
Frrs1 |
A |
T |
3: 116,672,080 (GRCm39) |
K59N |
probably benign |
Het |
Gpr157 |
T |
C |
4: 150,186,055 (GRCm39) |
Y206H |
probably damaging |
Het |
Hinfp |
C |
T |
9: 44,210,169 (GRCm39) |
|
probably null |
Het |
Igf2r |
A |
T |
17: 12,933,838 (GRCm39) |
N805K |
probably damaging |
Het |
Ilrun |
A |
T |
17: 27,986,960 (GRCm39) |
D255E |
probably benign |
Het |
Itga3 |
T |
C |
11: 94,959,717 (GRCm39) |
|
probably benign |
Het |
Itga6 |
A |
G |
2: 71,664,351 (GRCm39) |
|
probably null |
Het |
Kcnip1 |
G |
A |
11: 33,595,600 (GRCm39) |
T30I |
possibly damaging |
Het |
Lig4 |
T |
C |
8: 10,021,585 (GRCm39) |
T732A |
probably benign |
Het |
Lmod3 |
T |
A |
6: 97,224,262 (GRCm39) |
T520S |
probably damaging |
Het |
Megf8 |
G |
A |
7: 25,043,145 (GRCm39) |
V1356I |
possibly damaging |
Het |
Mical3 |
C |
T |
6: 121,017,478 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
C |
5: 115,573,535 (GRCm39) |
I8T |
probably damaging |
Het |
Mug4-ps |
A |
T |
6: 121,927,276 (GRCm39) |
|
noncoding transcript |
Het |
Myo1f |
T |
A |
17: 33,820,044 (GRCm39) |
I783N |
probably damaging |
Het |
Nr6a1 |
A |
C |
2: 38,619,509 (GRCm39) |
I462S |
probably damaging |
Het |
Or2t48 |
C |
T |
11: 58,420,090 (GRCm39) |
A241T |
probably damaging |
Het |
Or8k23 |
A |
G |
2: 86,186,702 (GRCm39) |
V8A |
probably benign |
Het |
Pah |
C |
A |
10: 87,419,423 (GRCm39) |
Q449K |
probably benign |
Het |
Pced1a |
A |
G |
2: 130,263,839 (GRCm39) |
V271A |
probably damaging |
Het |
Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
Psg21 |
A |
G |
7: 18,386,270 (GRCm39) |
Y239H |
probably damaging |
Het |
Ptprt |
T |
C |
2: 162,109,949 (GRCm39) |
Y180C |
probably damaging |
Het |
Raet1d |
T |
A |
10: 22,246,849 (GRCm39) |
I59N |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,819,647 (GRCm39) |
L653P |
probably damaging |
Het |
Rnase2a |
A |
G |
14: 51,493,131 (GRCm39) |
V78A |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
Serbp1 |
T |
C |
6: 67,249,851 (GRCm39) |
|
probably benign |
Het |
Tlr1 |
A |
T |
5: 65,082,629 (GRCm39) |
H649Q |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpc6 |
T |
A |
9: 8,656,731 (GRCm39) |
D719E |
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,066,698 (GRCm39) |
S318R |
probably benign |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Uhmk1 |
T |
C |
1: 170,039,806 (GRCm39) |
Q187R |
probably damaging |
Het |
Ung |
C |
T |
5: 114,269,438 (GRCm39) |
A50V |
probably benign |
Het |
Upk3bl |
C |
T |
5: 136,088,674 (GRCm39) |
Q103* |
probably null |
Het |
Usp17le |
C |
A |
7: 104,418,350 (GRCm39) |
C264F |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,758 (GRCm39) |
N140Y |
probably damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,222,114 (GRCm39) |
C702Y |
probably damaging |
Het |
Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
Het |
Zfp748 |
G |
A |
13: 67,688,923 (GRCm39) |
P779L |
possibly 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 |
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'- GCTTTTGGAAATGGAGACTGC -3'
(R):5'- CTAAGAACTCAGTGGGCTTCAC -3'
Sequencing Primer
(F):5'- TGGAAATGGAGACTGCCTACCTTC -3'
(R):5'- TTCACCTCAGGCTCTATGGCAAATAC -3'
|
Posted On |
2018-02-27 |