Incidental Mutation 'R0864:Hpn'
| ID |
82250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hpn
|
| Ensembl Gene |
ENSMUSG00000001249 |
| Gene Name |
hepsin |
| Synonyms |
Hlb320 |
| MMRRC Submission |
039038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0864 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
30798150-30814715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30808426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 41
(I41V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039435]
[ENSMUST00000108102]
[ENSMUST00000164929]
[ENSMUST00000165124]
[ENSMUST00000168884]
|
| AlphaFold |
O35453 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039435
AA Change: I70V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038149
Gene: ENSMUSG00000001249
AA Change: I70V
| 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: I61V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103737
Gene: ENSMUSG00000001249
AA Change: I61V
| 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 |
probably benign
Transcript: ENSMUST00000164929
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165124
AA Change: I41V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168623
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168884
AA Change: I41V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131658
Gene: ENSMUSG00000001249
AA Change: I41V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 93.8%
|
| Validation Efficiency |
93% (39/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,784,798 (GRCm39) |
|
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,200 (GRCm39) |
Y66C |
probably damaging |
Het |
| Apol7e |
T |
A |
15: 77,601,993 (GRCm39) |
V197E |
probably damaging |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,756,274 (GRCm39) |
T192I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
G |
A |
2: 104,060,773 (GRCm39) |
P1374S |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,649,587 (GRCm39) |
V1097A |
probably benign |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 94,918,759 (GRCm39) |
Y339H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,221 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
G |
T |
4: 129,214,344 (GRCm39) |
|
probably benign |
Het |
| Rbbp8 |
G |
A |
18: 11,865,241 (GRCm39) |
|
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Supt4a |
T |
A |
11: 87,633,913 (GRCm39) |
S88T |
probably benign |
Het |
| Tmem245 |
G |
T |
4: 56,890,837 (GRCm39) |
H321Q |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,840 (GRCm39) |
T12A |
probably null |
Het |
| Ywhae |
T |
G |
11: 75,650,256 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
A |
7: 16,154,104 (GRCm39) |
S131T |
probably damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,139 (GRCm39) |
T6M |
probably benign |
Het |
|
| Other mutations in Hpn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01532:Hpn
|
APN |
7 |
30,802,938 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTTGGACAACAATCATACCCTTCG -3'
(R):5'- TGCCCAACTCTTGCTGTGCTGA -3'
Sequencing Primer
(F):5'- ttgcttcatgcctgcaatc -3'
(R):5'- CTCTTGCTGTGCTGAGGACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation