Incidental Mutation 'R9155:Hephl1'
| ID |
695311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hephl1
|
| Ensembl Gene |
ENSMUSG00000031936 |
| Gene Name |
hephaestin-like 1 |
| Synonyms |
LOC244698, zyklopen, Zp |
| MMRRC Submission |
068941-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R9155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
15051841-15112108 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15089079 bp (GRCm38)
|
| 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: 107,543,945 (GRCm38) |
E34G |
probably damaging |
Het |
| Aldh1a3 |
A |
T |
7: 66,409,119 (GRCm38) |
L157* |
probably null |
Het |
| Asic2 |
T |
A |
11: 80,894,046 (GRCm38) |
T356S |
probably benign |
Het |
| Ate1 |
T |
C |
7: 130,394,733 (GRCm38) |
D459G |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,459,597 (GRCm38) |
Q474L |
|
Het |
| Calhm6 |
T |
C |
10: 34,126,367 (GRCm38) |
E240G |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,150,683 (GRCm38) |
T689K |
possibly damaging |
Het |
| Carmil2 |
A |
G |
8: 105,686,290 (GRCm38) |
D6G |
probably benign |
Het |
| Ccnd2 |
A |
C |
6: 127,150,700 (GRCm38) |
V25G |
probably damaging |
Het |
| Ccnk |
T |
A |
12: 108,193,719 (GRCm38) |
F153L |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,413,706 (GRCm38) |
G808E |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 44,304,893 (GRCm38) |
R212Q |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 110,881,752 (GRCm38) |
W749R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,810,579 (GRCm38) |
T1073S |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 106,075,010 (GRCm38) |
D563V |
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,295,780 (GRCm38) |
|
probably null |
Het |
| Crebbp |
A |
C |
16: 4,096,482 (GRCm38) |
H1292Q |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,585,655 (GRCm38) |
G2737W |
|
Het |
| Ddrgk1 |
T |
C |
2: 130,658,307 (GRCm38) |
Y223C |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,066,796 (GRCm38) |
Q589R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,830,411 (GRCm38) |
D4336G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,027,516 (GRCm38) |
E2372K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,296,870 (GRCm38) |
Q140L |
possibly damaging |
Het |
| Ergic3 |
A |
G |
2: 156,008,860 (GRCm38) |
Y83C |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,438,671 (GRCm38) |
S421T |
probably benign |
Het |
| Fndc3a |
T |
A |
14: 72,683,722 (GRCm38) |
H4L |
possibly damaging |
Het |
| Gid8 |
T |
A |
2: 180,717,963 (GRCm38) |
Y213* |
probably null |
Het |
| Hexb |
T |
C |
13: 97,177,906 (GRCm38) |
Y443C |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,926,425 (GRCm38) |
R168H |
probably benign |
Het |
| Hus1 |
A |
G |
11: 9,006,056 (GRCm38) |
I159T |
probably damaging |
Het |
| Inha |
A |
G |
1: 75,509,489 (GRCm38) |
T143A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,189,519 (GRCm38) |
I690T |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,125,263 (GRCm38) |
C766F |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,778,326 (GRCm38) |
E628G |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 105,393,939 (GRCm38) |
H221R |
probably benign |
Het |
| Llgl1 |
A |
G |
11: 60,707,108 (GRCm38) |
E351G |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,295,201 (GRCm38) |
Y253C |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,461,369 (GRCm38) |
R3489* |
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,214,779 (GRCm38) |
N704S |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 119,508,954 (GRCm38) |
N995S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,926,532 (GRCm38) |
C1077R |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,621,239 (GRCm38) |
P685L |
unknown |
Het |
| Ndufv1 |
A |
T |
19: 4,009,912 (GRCm38) |
C142S |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,192,211 (GRCm38) |
L226P |
probably damaging |
Het |
| Nsd1 |
C |
T |
13: 55,213,440 (GRCm38) |
R74W |
probably damaging |
Het |
| Or12k8 |
A |
C |
2: 37,085,004 (GRCm38) |
M248R |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,364,965 (GRCm38) |
T99A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,335,333 (GRCm38) |
M59L |
probably damaging |
Het |
| Or5b99 |
G |
A |
19: 12,999,064 (GRCm38) |
C26Y |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,585,083 (GRCm38) |
D182V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,914,542 (GRCm38) |
V812A |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,499,669 (GRCm38) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,787,247 (GRCm38) |
C193S |
possibly damaging |
Het |
| Rbbp5 |
C |
A |
1: 132,494,285 (GRCm38) |
P308T |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,257,554 (GRCm38) |
T607A |
probably null |
Het |
| Secisbp2l |
G |
A |
2: 125,775,703 (GRCm38) |
P18L |
probably damaging |
Het |
| Slc27a4 |
G |
A |
2: 29,811,282 (GRCm38) |
G362S |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,774,690 (GRCm38) |
Y36H |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,492,224 (GRCm38) |
Y251C |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,284,369 (GRCm38) |
I4269N |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,813,239 (GRCm38) |
V373A |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,914,750 (GRCm38) |
V107E |
probably damaging |
Het |
| Them7 |
A |
G |
2: 105,378,779 (GRCm38) |
Y148C |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,513,206 (GRCm38) |
M472K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,795,593 (GRCm38) |
V15041I |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,924,134 (GRCm38) |
V751A |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,012,173 (GRCm38) |
R309* |
probably null |
Het |
| Vmn2r10 |
A |
T |
5: 108,996,346 (GRCm38) |
D579E |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,610,207 (GRCm38) |
Q435R |
probably null |
Het |
| Vmn2r50 |
A |
T |
7: 10,047,644 (GRCm38) |
H391Q |
probably damaging |
Het |
| Zbtb44 |
A |
T |
9: 31,054,013 (GRCm38) |
I240F |
probably benign |
Het |
|
| Other mutations in Hephl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Hephl1
|
APN |
9 |
15,067,045 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01105:Hephl1
|
APN |
9 |
15,089,024 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01731:Hephl1
|
APN |
9 |
15,069,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02010:Hephl1
|
APN |
9 |
15,090,556 (GRCm38) |
nonsense |
probably null |
|
|
IGL02112:Hephl1
|
APN |
9 |
15,081,815 (GRCm38) |
splice site |
probably benign |
|
|
IGL02227:Hephl1
|
APN |
9 |
15,069,793 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02490:Hephl1
|
APN |
9 |
15,053,685 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02960:Hephl1
|
APN |
9 |
15,084,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03265:Hephl1
|
APN |
9 |
15,060,959 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0006:Hephl1
|
UTSW |
9 |
15,076,764 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0006:Hephl1
|
UTSW |
9 |
15,076,764 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0007:Hephl1
|
UTSW |
9 |
15,086,175 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0092:Hephl1
|
UTSW |
9 |
15,090,603 (GRCm38) |
frame shift |
probably null |
|
|
R0421:Hephl1
|
UTSW |
9 |
15,059,160 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0448:Hephl1
|
UTSW |
9 |
15,076,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0563:Hephl1
|
UTSW |
9 |
15,081,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0602:Hephl1
|
UTSW |
9 |
15,089,051 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0631:Hephl1
|
UTSW |
9 |
15,084,524 (GRCm38) |
missense |
probably benign |
0.04 |
|
R0747:Hephl1
|
UTSW |
9 |
15,054,001 (GRCm38) |
splice site |
probably benign |
|
|
R1123:Hephl1
|
UTSW |
9 |
15,080,140 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1386:Hephl1
|
UTSW |
9 |
15,076,754 (GRCm38) |
missense |
probably benign |
|
|
R1711:Hephl1
|
UTSW |
9 |
15,059,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1743:Hephl1
|
UTSW |
9 |
15,090,068 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1833:Hephl1
|
UTSW |
9 |
15,076,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1908:Hephl1
|
UTSW |
9 |
15,074,124 (GRCm38) |
nonsense |
probably null |
|
|
R1918:Hephl1
|
UTSW |
9 |
15,076,818 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1938:Hephl1
|
UTSW |
9 |
15,053,987 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1986:Hephl1
|
UTSW |
9 |
15,054,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3122:Hephl1
|
UTSW |
9 |
15,088,969 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3832:Hephl1
|
UTSW |
9 |
15,069,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3833:Hephl1
|
UTSW |
9 |
15,069,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4280:Hephl1
|
UTSW |
9 |
15,112,034 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4434:Hephl1
|
UTSW |
9 |
15,076,796 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4790:Hephl1
|
UTSW |
9 |
15,059,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4793:Hephl1
|
UTSW |
9 |
15,097,990 (GRCm38) |
missense |
probably benign |
0.34 |
|
R4960:Hephl1
|
UTSW |
9 |
15,086,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5125:Hephl1
|
UTSW |
9 |
15,086,172 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5152:Hephl1
|
UTSW |
9 |
15,080,185 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5178:Hephl1
|
UTSW |
9 |
15,086,172 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5288:Hephl1
|
UTSW |
9 |
15,076,854 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5372:Hephl1
|
UTSW |
9 |
15,097,899 (GRCm38) |
nonsense |
probably null |
|
|
R5377:Hephl1
|
UTSW |
9 |
15,069,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5788:Hephl1
|
UTSW |
9 |
15,084,283 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5795:Hephl1
|
UTSW |
9 |
15,069,760 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6210:Hephl1
|
UTSW |
9 |
15,090,564 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6303:Hephl1
|
UTSW |
9 |
15,090,152 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6394:Hephl1
|
UTSW |
9 |
15,074,101 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6653:Hephl1
|
UTSW |
9 |
15,081,964 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6764:Hephl1
|
UTSW |
9 |
15,088,921 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7114:Hephl1
|
UTSW |
9 |
15,069,815 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7143:Hephl1
|
UTSW |
9 |
15,060,810 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7404:Hephl1
|
UTSW |
9 |
15,069,751 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7446:Hephl1
|
UTSW |
9 |
15,098,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7447:Hephl1
|
UTSW |
9 |
15,097,882 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7715:Hephl1
|
UTSW |
9 |
15,060,785 (GRCm38) |
missense |
probably benign |
0.36 |
|
R8013:Hephl1
|
UTSW |
9 |
15,054,609 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8156:Hephl1
|
UTSW |
9 |
15,060,914 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8755:Hephl1
|
UTSW |
9 |
15,111,984 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8755:Hephl1
|
UTSW |
9 |
15,074,267 (GRCm38) |
missense |
probably benign |
|
|
R8777:Hephl1
|
UTSW |
9 |
15,060,794 (GRCm38) |
missense |
probably benign |
0.24 |
|
R8777-TAIL:Hephl1
|
UTSW |
9 |
15,060,794 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9090:Hephl1
|
UTSW |
9 |
15,076,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9271:Hephl1
|
UTSW |
9 |
15,076,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9287:Hephl1
|
UTSW |
9 |
15,084,479 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9487:Hephl1
|
UTSW |
9 |
15,084,534 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
X0026:Hephl1
|
UTSW |
9 |
15,084,228 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0066:Hephl1
|
UTSW |
9 |
15,053,668 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Hephl1
|
UTSW |
9 |
15,053,721 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Hephl1
|
UTSW |
9 |
15,090,054 (GRCm38) |
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