Incidental Mutation 'IGL01532:Hpn'
| ID |
89792 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hpn
|
| Ensembl Gene |
ENSMUSG00000001249 |
| Gene Name |
hepsin |
| Synonyms |
Hlb320 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30798150-30814715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30802938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 121
(M121L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038149
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039435]
[ENSMUST00000108102]
[ENSMUST00000165124]
[ENSMUST00000168884]
[ENSMUST00000171259]
|
| AlphaFold |
O35453 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039435
AA Change: M121L
PolyPhen 2
Score 0.509 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038149
Gene: ENSMUSG00000001249
AA Change: M121L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
SR
|
82 |
179 |
8.44e-5 |
SMART |
|
Tryp_SPc
|
190 |
428 |
3.09e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108102
AA Change: M112L
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103737
Gene: ENSMUSG00000001249
AA Change: M112L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
SR
|
73 |
170 |
8.44e-5 |
SMART |
|
Tryp_SPc
|
181 |
419 |
3.09e-98 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164340
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165124
AA Change: M92L
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168884
AA Change: M92L
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131658
Gene: ENSMUSG00000001249
AA Change: M92L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
SR
|
53 |
150 |
8.44e-5 |
SMART |
|
Tryp_SPc
|
161 |
399 |
3.09e-98 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171259
|
| SMART Domains |
Protein: ENSMUSP00000132307
Gene: ENSMUSG00000001249
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
142 |
5.41e-30 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a type II transmembrane serine protease that may function in diverse processes, including regulation of cell growth. Deficiency in this gene results in hearing loss. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null mutation are hypothyroidic and develop profound hearing loss associated with structural changes in the tectorial membrane and a myelination defect affecting the compaction of spiral ganglion neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts17 |
C |
A |
7: 66,558,349 (GRCm39) |
N264K |
probably damaging |
Het |
| Adgrl3 |
C |
T |
5: 81,842,416 (GRCm39) |
T260I |
probably damaging |
Het |
| Ambra1 |
G |
T |
2: 91,715,977 (GRCm39) |
K769N |
probably damaging |
Het |
| Arel1 |
A |
G |
12: 84,980,936 (GRCm39) |
V357A |
possibly damaging |
Het |
| Atp11b |
T |
A |
3: 35,903,651 (GRCm39) |
C76* |
probably null |
Het |
| AW112010 |
C |
A |
19: 11,025,433 (GRCm39) |
|
noncoding transcript |
Het |
| Bfar |
A |
T |
16: 13,505,251 (GRCm39) |
|
probably benign |
Het |
| Ccdc70 |
T |
G |
8: 22,463,299 (GRCm39) |
L30V |
probably damaging |
Het |
| Cep20 |
A |
G |
16: 14,122,375 (GRCm39) |
S130P |
probably benign |
Het |
| Chrm5 |
C |
T |
2: 112,309,577 (GRCm39) |
R513Q |
probably benign |
Het |
| Crem |
G |
A |
18: 3,276,732 (GRCm39) |
T7I |
probably benign |
Het |
| Cyp4f39 |
C |
T |
17: 32,689,928 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,208,660 (GRCm39) |
T849A |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,146,805 (GRCm39) |
G1428V |
probably damaging |
Het |
| Eomes |
T |
C |
9: 118,311,317 (GRCm39) |
I380T |
probably damaging |
Het |
| Fam13a |
T |
C |
6: 58,917,280 (GRCm39) |
D532G |
probably damaging |
Het |
| Gm10061 |
G |
T |
16: 88,948,190 (GRCm39) |
*55L |
probably null |
Het |
| Gm27438 |
T |
G |
2: 87,083,269 (GRCm39) |
|
probably benign |
Het |
| Gpalpp1 |
T |
C |
14: 76,339,942 (GRCm39) |
K124E |
probably benign |
Het |
| Hgs |
T |
A |
11: 120,368,335 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
T |
C |
1: 40,334,088 (GRCm39) |
|
probably null |
Het |
| Jag2 |
A |
T |
12: 112,877,983 (GRCm39) |
C583S |
probably damaging |
Het |
| Katnal2 |
T |
C |
18: 77,099,696 (GRCm39) |
H146R |
probably benign |
Het |
| Ldah |
T |
C |
12: 8,270,596 (GRCm39) |
|
probably benign |
Het |
| Lvrn |
T |
A |
18: 47,033,551 (GRCm39) |
Y921N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,423,743 (GRCm39) |
Y4572C |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,450,551 (GRCm39) |
S518G |
probably benign |
Het |
| Ncf1 |
T |
C |
5: 134,255,447 (GRCm39) |
N148S |
probably benign |
Het |
| Nes |
T |
G |
3: 87,885,654 (GRCm39) |
D1260E |
possibly damaging |
Het |
| Nup210 |
C |
A |
6: 91,062,981 (GRCm39) |
|
probably benign |
Het |
| Or52b4i |
T |
C |
7: 102,191,863 (GRCm39) |
L240P |
probably damaging |
Het |
| Rnf31 |
C |
A |
14: 55,840,080 (GRCm39) |
Q968K |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,967,034 (GRCm39) |
|
probably benign |
Het |
| Ryk |
T |
C |
9: 102,774,465 (GRCm39) |
Y400H |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,250,022 (GRCm39) |
|
probably null |
Het |
| Sptssb |
A |
G |
3: 69,728,202 (GRCm39) |
|
probably benign |
Het |
| Sstr5 |
T |
C |
17: 25,710,305 (GRCm39) |
D308G |
probably damaging |
Het |
| Taf2 |
A |
G |
15: 54,912,882 (GRCm39) |
W493R |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vti1b |
A |
C |
12: 79,211,912 (GRCm39) |
L1W |
probably null |
Het |
| Wdr1 |
T |
C |
5: 38,692,530 (GRCm39) |
Y125C |
probably damaging |
Het |
|
| Other mutations in Hpn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
sweetsoup
|
UTSW |
7 |
30,799,323 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0238:Hpn
|
UTSW |
7 |
30,798,815 (GRCm39) |
splice site |
probably benign |
|
|
R0671:Hpn
|
UTSW |
7 |
30,808,585 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0747:Hpn
|
UTSW |
7 |
30,798,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0864:Hpn
|
UTSW |
7 |
30,808,426 (GRCm39) |
missense |
probably benign |
|
|
R0988:Hpn
|
UTSW |
7 |
30,799,323 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1892:Hpn
|
UTSW |
7 |
30,798,468 (GRCm39) |
nonsense |
probably null |
|
|
R1893:Hpn
|
UTSW |
7 |
30,798,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Hpn
|
UTSW |
7 |
30,798,300 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5152:Hpn
|
UTSW |
7 |
30,799,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5338:Hpn
|
UTSW |
7 |
30,802,781 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5664:Hpn
|
UTSW |
7 |
30,798,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Hpn
|
UTSW |
7 |
30,810,367 (GRCm39) |
intron |
probably benign |
|
|
R8235:Hpn
|
UTSW |
7 |
30,802,208 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9148:Hpn
|
UTSW |
7 |
30,802,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9160:Hpn
|
UTSW |
7 |
30,808,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
X0019:Hpn
|
UTSW |
7 |
30,798,460 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation