Incidental Mutation 'R4434:Hephl1'
| ID |
328752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hephl1
|
| Ensembl Gene |
ENSMUSG00000031936 |
| Gene Name |
hephaestin-like 1 |
| Synonyms |
zyklopen, thd, cw, Zp, LOC244698 |
| MMRRC Submission |
041148-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R4434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
14963137-15023404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 14988092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 672
(R672H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124518
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159985]
|
| AlphaFold |
Q3V1H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159985
AA Change: R672H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124518
Gene: ENSMUSG00000031936
AA Change: R672H
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
T |
8: 111,781,253 (GRCm39) |
Q907L |
probably null |
Het |
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| AI597479 |
C |
T |
1: 43,139,959 (GRCm39) |
Q62* |
probably null |
Het |
| Akap9 |
T |
A |
5: 4,082,708 (GRCm39) |
M1944K |
probably damaging |
Het |
| Akr1c19 |
T |
C |
13: 4,292,615 (GRCm39) |
V212A |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Antxrl |
G |
A |
14: 33,793,574 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,972,146 (GRCm39) |
C26R |
probably benign |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,763,191 (GRCm39) |
T1215I |
possibly damaging |
Het |
| Dnah7c |
G |
A |
1: 46,705,442 (GRCm39) |
R2485H |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,998,901 (GRCm39) |
N1049I |
possibly damaging |
Het |
| Dnaja3 |
T |
G |
16: 4,507,859 (GRCm39) |
Y120* |
probably null |
Het |
| Ehbp1l1 |
G |
T |
19: 5,766,276 (GRCm39) |
R412S |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gcnt4 |
T |
A |
13: 97,082,850 (GRCm39) |
Y49N |
probably benign |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gngt1 |
A |
G |
6: 3,994,282 (GRCm39) |
D20G |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,248,484 (GRCm39) |
N104S |
probably damaging |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,798,835 (GRCm39) |
I2095K |
probably damaging |
Het |
| Hpse2 |
A |
G |
19: 43,282,708 (GRCm39) |
S182P |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,890,640 (GRCm39) |
S1109R |
probably benign |
Het |
| Itgbl1 |
A |
T |
14: 124,209,611 (GRCm39) |
D330V |
probably damaging |
Het |
| Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,371,225 (GRCm39) |
N4108Y |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,888,362 (GRCm39) |
I171T |
probably damaging |
Het |
| Nckap5l |
A |
C |
15: 99,320,744 (GRCm39) |
S1270A |
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,430,801 (GRCm39) |
I500M |
probably damaging |
Het |
| Or10j5 |
C |
T |
1: 172,785,111 (GRCm39) |
H250Y |
probably damaging |
Het |
| Pax8 |
G |
A |
2: 24,319,621 (GRCm39) |
P350L |
possibly damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,047,006 (GRCm39) |
C772R |
probably damaging |
Het |
| Prh1 |
A |
T |
6: 132,548,841 (GRCm39) |
H116L |
unknown |
Het |
| Rgsl1 |
C |
T |
1: 153,678,087 (GRCm39) |
A114T |
possibly damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Scube1 |
A |
T |
15: 83,606,125 (GRCm39) |
I49N |
probably damaging |
Het |
| Shank3 |
C |
A |
15: 89,387,562 (GRCm39) |
L244I |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,603,302 (GRCm39) |
T268A |
probably benign |
Het |
| Sp7 |
A |
G |
15: 102,267,536 (GRCm39) |
L90P |
probably damaging |
Het |
| Tacc2 |
G |
A |
7: 130,225,271 (GRCm39) |
S652N |
probably damaging |
Het |
| Tacstd2 |
A |
G |
6: 67,512,128 (GRCm39) |
V188A |
possibly damaging |
Het |
| Tasor |
G |
A |
14: 27,171,818 (GRCm39) |
|
probably null |
Het |
| Tex26 |
T |
C |
5: 149,376,820 (GRCm39) |
S70P |
probably benign |
Het |
| Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,066 (GRCm39) |
T905A |
possibly damaging |
Het |
| Trim65 |
G |
A |
11: 116,018,435 (GRCm39) |
Q253* |
probably null |
Het |
| Tuba3a |
A |
T |
6: 125,258,506 (GRCm39) |
Y161* |
probably null |
Het |
| Zfand2b |
A |
G |
1: 75,147,330 (GRCm39) |
S197G |
possibly damaging |
Het |
| Zfp109 |
T |
A |
7: 23,928,771 (GRCm39) |
T213S |
probably benign |
Het |
| Zfp985 |
A |
C |
4: 147,668,368 (GRCm39) |
D412A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
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 |
|
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'- GTTTCTAGAGTCTCTGCCGTGC -3'
(R):5'- TGAAAACGTGCTCTGAGATGG -3'
Sequencing Primer
(F):5'- GCCAAGGCATACCAGCTTTTC -3'
(R):5'- ATAGAGGACACTCACCATCTTTTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation