Incidental Mutation 'R0963:Htra1'
| ID |
81374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htra1
|
| Ensembl Gene |
ENSMUSG00000006205 |
| Gene Name |
HtrA serine peptidase 1 |
| Synonyms |
Prss11, insulin-like growth factor binding protein 5 protease, RSPP11, L56, HtrA1 |
| MMRRC Submission |
039092-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0963 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
130537933-130587388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130584009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 388
(M388K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006367]
[ENSMUST00000124096]
|
| AlphaFold |
Q9R118 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000006367
AA Change: M388K
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: M388K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IB
|
35 |
112 |
2.49e-24 |
SMART |
|
KAZAL
|
109 |
155 |
4.28e-13 |
SMART |
|
Pfam:Trypsin
|
192 |
364 |
3.5e-17 |
PFAM |
|
Pfam:Trypsin_2
|
204 |
342 |
3.1e-35 |
PFAM |
|
PDZ
|
381 |
466 |
7.48e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140741
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150905
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153290
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain. [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 |
|---|
| Adarb2 |
A |
G |
13: 8,722,451 (GRCm39) |
D369G |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,038,893 (GRCm39) |
V303A |
probably damaging |
Het |
| Afap1l1 |
A |
T |
18: 61,870,001 (GRCm39) |
Y610N |
probably damaging |
Het |
| Agr3 |
T |
A |
12: 35,984,433 (GRCm39) |
H53Q |
probably benign |
Het |
| Akr1d1 |
A |
G |
6: 37,507,209 (GRCm39) |
I10M |
probably damaging |
Het |
| Atp4b |
G |
T |
8: 13,440,014 (GRCm39) |
H111N |
probably benign |
Het |
| Bbs7 |
G |
T |
3: 36,667,412 (GRCm39) |
A8E |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,989,006 (GRCm39) |
V2249M |
possibly damaging |
Het |
| Cpt1a |
T |
C |
19: 3,431,634 (GRCm39) |
S685P |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,582,956 (GRCm39) |
H163Q |
probably benign |
Het |
| Duox2 |
A |
C |
2: 122,117,653 (GRCm39) |
C894G |
probably benign |
Het |
| Ecm1 |
T |
C |
3: 95,643,900 (GRCm39) |
T209A |
possibly damaging |
Het |
| Glo1 |
T |
C |
17: 30,819,085 (GRCm39) |
N79S |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Jag2 |
C |
T |
12: 112,878,934 (GRCm39) |
E496K |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Khdc1c |
A |
G |
1: 21,439,833 (GRCm39) |
N128S |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,119,132 (GRCm39) |
N829S |
probably benign |
Het |
| Leprotl1 |
T |
C |
8: 34,606,189 (GRCm39) |
Y33C |
probably damaging |
Het |
| Lypd11 |
A |
T |
7: 24,423,047 (GRCm39) |
D90E |
probably benign |
Het |
| Map3k3 |
T |
A |
11: 106,014,618 (GRCm39) |
S130T |
probably benign |
Het |
| Mip |
C |
T |
10: 128,061,854 (GRCm39) |
A35V |
probably benign |
Het |
| Ms4a19 |
T |
C |
19: 11,118,921 (GRCm39) |
T63A |
possibly damaging |
Het |
| Myh15 |
A |
G |
16: 48,952,512 (GRCm39) |
R861G |
probably damaging |
Het |
| Myom1 |
A |
C |
17: 71,384,762 (GRCm39) |
I718L |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,452,983 (GRCm39) |
R26H |
probably benign |
Het |
| Or52e4 |
G |
A |
7: 104,706,179 (GRCm39) |
C242Y |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,578,534 (GRCm39) |
E824G |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,453,678 (GRCm39) |
I262N |
possibly damaging |
Het |
| Rbm19 |
T |
G |
5: 120,268,799 (GRCm39) |
S476A |
possibly damaging |
Het |
| Rpl39l |
T |
A |
16: 9,992,162 (GRCm39) |
|
probably null |
Het |
| Sec24b |
A |
G |
3: 129,834,554 (GRCm39) |
S79P |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,594,935 (GRCm39) |
A146V |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,189,675 (GRCm39) |
Y161C |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,933,259 (GRCm39) |
C652S |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,869,231 (GRCm39) |
I1499T |
probably damaging |
Het |
| Tnnt1 |
A |
G |
7: 4,510,594 (GRCm39) |
L209P |
probably damaging |
Het |
| Trim52 |
T |
G |
14: 106,344,973 (GRCm39) |
S210R |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,039 (GRCm39) |
N82K |
possibly damaging |
Het |
| Wdr75 |
T |
C |
1: 45,856,470 (GRCm39) |
Y498H |
probably benign |
Het |
| Zfp955a |
C |
T |
17: 33,462,726 (GRCm39) |
S56N |
probably benign |
Het |
|
| Other mutations in Htra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02090:Htra1
|
APN |
7 |
130,538,108 (GRCm39) |
missense |
probably benign |
|
|
IGL02500:Htra1
|
APN |
7 |
130,586,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02708:Htra1
|
APN |
7 |
130,563,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03341:Htra1
|
APN |
7 |
130,583,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0045:Htra1
|
UTSW |
7 |
130,563,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Htra1
|
UTSW |
7 |
130,563,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Htra1
|
UTSW |
7 |
130,581,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Htra1
|
UTSW |
7 |
130,581,027 (GRCm39) |
intron |
probably benign |
|
|
R1244:Htra1
|
UTSW |
7 |
130,586,799 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1892:Htra1
|
UTSW |
7 |
130,586,799 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2279:Htra1
|
UTSW |
7 |
130,563,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Htra1
|
UTSW |
7 |
130,538,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4774:Htra1
|
UTSW |
7 |
130,586,756 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4880:Htra1
|
UTSW |
7 |
130,563,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Htra1
|
UTSW |
7 |
130,586,802 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5183:Htra1
|
UTSW |
7 |
130,585,446 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5819:Htra1
|
UTSW |
7 |
130,583,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Htra1
|
UTSW |
7 |
130,563,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Htra1
|
UTSW |
7 |
130,537,948 (GRCm39) |
intron |
probably benign |
|
|
R6845:Htra1
|
UTSW |
7 |
130,538,021 (GRCm39) |
intron |
probably benign |
|
|
R9332:Htra1
|
UTSW |
7 |
130,563,851 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGTCATGCCACAGGTTTTGAG -3'
(R):5'- TGCCTGCTAGTGAGCCTTCTGATG -3'
Sequencing Primer
(F):5'- CAGGACTGAACTACAGTTTTTGGG -3'
(R):5'- GTGGAATCAGACCTGCCAAC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation