Incidental Mutation 'R0448:Hephl1'
| ID |
39452 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hephl1
|
| Ensembl Gene |
ENSMUSG00000031936 |
| Gene Name |
hephaestin-like 1 |
| Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
| MMRRC Submission |
038648-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R0448 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14988222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 629
(G629S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
| AlphaFold |
Q3V1H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: G629S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: G629S
| 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 |
0.0740 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,218,687 (GRCm39) |
R232C |
probably damaging |
Het |
| Adam9 |
A |
G |
8: 25,454,926 (GRCm39) |
S732P |
probably damaging |
Het |
| Add2 |
G |
A |
6: 86,069,901 (GRCm39) |
V140I |
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,847,974 (GRCm39) |
G461S |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,909,991 (GRCm39) |
S643C |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,869,659 (GRCm39) |
T432A |
possibly damaging |
Het |
| Arsi |
T |
C |
18: 61,050,374 (GRCm39) |
I419T |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,399,047 (GRCm39) |
P1515L |
possibly damaging |
Het |
| Brcc3 |
T |
A |
X: 74,493,647 (GRCm39) |
L222* |
probably null |
Het |
| Brpf3 |
A |
T |
17: 29,025,010 (GRCm39) |
T28S |
probably benign |
Het |
| Cdc20b |
T |
A |
13: 113,215,191 (GRCm39) |
V253E |
probably damaging |
Het |
| Cnot6l |
T |
A |
5: 96,227,905 (GRCm39) |
S443C |
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,881,908 (GRCm39) |
A587T |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,076 (GRCm39) |
D391G |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,769,502 (GRCm39) |
D283E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,318 (GRCm39) |
N25S |
probably benign |
Het |
| Csnk1g1 |
T |
C |
9: 65,888,230 (GRCm39) |
F90L |
possibly damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,433,965 (GRCm39) |
V115A |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,204 (GRCm39) |
I328V |
probably benign |
Het |
| Dchs1 |
C |
A |
7: 105,415,134 (GRCm39) |
E683D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,809,539 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,326 (GRCm39) |
S330P |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,066,580 (GRCm39) |
Y2160C |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,213,100 (GRCm39) |
L742P |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,660 (GRCm39) |
I491T |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,503,204 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,756,194 (GRCm39) |
S498P |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,353,278 (GRCm39) |
L14P |
possibly damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,606,523 (GRCm39) |
M162K |
unknown |
Het |
| Kcnh8 |
C |
A |
17: 53,284,648 (GRCm39) |
|
probably null |
Het |
| Krt76 |
T |
C |
15: 101,799,082 (GRCm39) |
Q201R |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,078,322 (GRCm39) |
Y319N |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,593,508 (GRCm39) |
I489R |
probably damaging |
Het |
| Mboat1 |
G |
T |
13: 30,386,393 (GRCm39) |
D136Y |
probably damaging |
Het |
| Mcmdc2 |
T |
C |
1: 10,010,767 (GRCm39) |
*682Q |
probably null |
Het |
| Msx2 |
C |
A |
13: 53,622,431 (GRCm39) |
R193L |
probably damaging |
Het |
| Nfatc4 |
T |
G |
14: 56,069,111 (GRCm39) |
D625E |
possibly damaging |
Het |
| Nup153 |
T |
C |
13: 46,870,657 (GRCm39) |
E86G |
probably benign |
Het |
| Or2g7 |
G |
T |
17: 38,378,563 (GRCm39) |
R167L |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,559 (GRCm39) |
I77F |
probably benign |
Het |
| Pard3b |
T |
C |
1: 62,205,628 (GRCm39) |
L474P |
probably damaging |
Het |
| Pate11 |
T |
A |
9: 36,388,412 (GRCm39) |
M79K |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,039 (GRCm39) |
|
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,224,688 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,898 (GRCm39) |
|
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,415,869 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,840,515 (GRCm39) |
D429N |
probably benign |
Het |
| S1pr5 |
T |
A |
9: 21,155,503 (GRCm39) |
T308S |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,354 (GRCm39) |
S93P |
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,273,675 (GRCm39) |
H123Q |
probably benign |
Het |
| Sftpc |
C |
T |
14: 70,760,120 (GRCm39) |
V46I |
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,794,087 (GRCm39) |
V159D |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,536,405 (GRCm39) |
N134S |
probably benign |
Het |
| Slc25a24 |
T |
C |
3: 109,064,332 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
C |
G |
9: 41,915,384 (GRCm39) |
V1282L |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,916,822 (GRCm39) |
I2170N |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,014,345 (GRCm39) |
|
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tg |
C |
A |
15: 66,636,291 (GRCm39) |
P626Q |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,888,550 (GRCm39) |
D196V |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,791,066 (GRCm39) |
F57S |
probably damaging |
Het |
| Tril |
A |
G |
6: 53,794,793 (GRCm39) |
*810Q |
probably null |
Het |
| Trrap |
T |
A |
5: 144,776,377 (GRCm39) |
V2972D |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,591,624 (GRCm39) |
V12688E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,551,283 (GRCm39) |
M31370V |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,909,625 (GRCm39) |
F307S |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,642 (GRCm39) |
S153L |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,005 (GRCm39) |
T581A |
possibly damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,024,811 (GRCm39) |
F462S |
probably damaging |
Het |
| Zfp101 |
A |
G |
17: 33,601,295 (GRCm39) |
S154P |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,002,487 (GRCm39) |
N481D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGGAATCTGAGCCCCTGTGATG -3'
(R):5'- GTGCTCTTGTGACATGCCAATGTG -3'
Sequencing Primer
(F):5'- CCTGGCAGGTTTACCTGAATG -3'
(R):5'- AGTTCTAGCCACCTTGTAGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation