Incidental Mutation 'R9155:Hephl1'
| ID |
695311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hephl1
|
| Ensembl Gene |
ENSMUSG00000031936 |
| Gene Name |
hephaestin-like 1 |
| Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
| MMRRC Submission |
068941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R9155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15000375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 292
(H292Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
| AlphaFold |
Q3V1H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: H292Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: H292Q
| 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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,691,811 (GRCm39) |
E34G |
probably damaging |
Het |
| Aldh1a3 |
A |
T |
7: 66,058,867 (GRCm39) |
L157* |
probably null |
Het |
| Asic2 |
T |
A |
11: 80,784,872 (GRCm39) |
T356S |
probably benign |
Het |
| Ate1 |
T |
C |
7: 129,996,463 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,350,423 (GRCm39) |
Q474L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,363 (GRCm39) |
E240G |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,189,842 (GRCm39) |
T689K |
possibly damaging |
Het |
| Carmil2 |
A |
G |
8: 106,412,922 (GRCm39) |
D6G |
probably benign |
Het |
| Ccnd2 |
A |
C |
6: 127,127,663 (GRCm39) |
V25G |
probably damaging |
Het |
| Ccnk |
T |
A |
12: 108,159,978 (GRCm39) |
F153L |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,249,485 (GRCm39) |
G808E |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,317 (GRCm39) |
R212Q |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,384 (GRCm39) |
W749R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,738,301 (GRCm39) |
T1073S |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,209 (GRCm39) |
D563V |
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
C |
16: 3,914,346 (GRCm39) |
H1292Q |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,449,051 (GRCm39) |
G2737W |
|
Het |
| Ddrgk1 |
T |
C |
2: 130,500,227 (GRCm39) |
Y223C |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,796 (GRCm39) |
Q589R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,907,475 (GRCm39) |
D4336G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,938 (GRCm39) |
Q140L |
possibly damaging |
Het |
| Ergic3 |
A |
G |
2: 155,850,780 (GRCm39) |
Y83C |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,329,497 (GRCm39) |
S421T |
probably benign |
Het |
| Fndc3a |
T |
A |
14: 72,921,162 (GRCm39) |
H4L |
possibly damaging |
Het |
| Gid8 |
T |
A |
2: 180,359,756 (GRCm39) |
Y213* |
probably null |
Het |
| Hexb |
T |
C |
13: 97,314,414 (GRCm39) |
Y443C |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,788 (GRCm39) |
R168H |
probably benign |
Het |
| Hus1 |
A |
G |
11: 8,956,056 (GRCm39) |
I159T |
probably damaging |
Het |
| Inha |
A |
G |
1: 75,486,133 (GRCm39) |
T143A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,016,089 (GRCm39) |
C766F |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,666,563 (GRCm39) |
E628G |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,120,571 (GRCm39) |
H221R |
probably benign |
Het |
| Llgl1 |
A |
G |
11: 60,597,934 (GRCm39) |
E351G |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,202,508 (GRCm39) |
Y253C |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,713 (GRCm39) |
R3489* |
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,050,640 (GRCm39) |
N704S |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,235,693 (GRCm39) |
N995S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,757,013 (GRCm39) |
C1077R |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,932,131 (GRCm39) |
P685L |
unknown |
Het |
| Ndufv1 |
A |
T |
19: 4,059,912 (GRCm39) |
C142S |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,660 (GRCm39) |
L226P |
probably damaging |
Het |
| Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
| Or12k8 |
A |
C |
2: 36,975,016 (GRCm39) |
M248R |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,791 (GRCm39) |
T99A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,224 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5b99 |
G |
A |
19: 12,976,428 (GRCm39) |
C26Y |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,379 (GRCm39) |
D182V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,691 (GRCm39) |
V812A |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,386,419 (GRCm39) |
C193S |
possibly damaging |
Het |
| Rbbp5 |
C |
A |
1: 132,422,023 (GRCm39) |
P308T |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,148,380 (GRCm39) |
T607A |
probably null |
Het |
| Secisbp2l |
G |
A |
2: 125,617,623 (GRCm39) |
P18L |
probably damaging |
Het |
| Slc27a4 |
G |
A |
2: 29,701,294 (GRCm39) |
G362S |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,672,571 (GRCm39) |
Y36H |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,447 (GRCm39) |
Y251C |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,296 (GRCm39) |
V373A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,881,184 (GRCm39) |
V107E |
probably damaging |
Het |
| Them7 |
A |
G |
2: 105,209,124 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,625,937 (GRCm39) |
V15041I |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,754,615 (GRCm39) |
V751A |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,196,343 (GRCm39) |
R309* |
probably null |
Het |
| Vmn2r10 |
A |
T |
5: 109,144,212 (GRCm39) |
D579E |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,207 (GRCm39) |
Q435R |
probably null |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,571 (GRCm39) |
H391Q |
probably damaging |
Het |
| Zbtb44 |
A |
T |
9: 30,965,309 (GRCm39) |
I240F |
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 |
|
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 |
|
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'- AGTAGAACCCATCTCGAGCC -3'
(R):5'- GCAGGAAAACATTATAGCAATGACC -3'
Sequencing Primer
(F):5'- CCATTGAGTTTACCTTGCAGG -3'
(R):5'- TGACCCACACACGGATTGTCTAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation