Incidental Mutation 'R7517:Asph'
| ID |
582509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asph
|
| Ensembl Gene |
ENSMUSG00000028207 |
| Gene Name |
aspartate-beta-hydroxylase |
| Synonyms |
calsequestrin-binding protein, 2310005F16Rik, aspartyl beta-hydroxylase, jumbug, BAH, Junctin, junctate, 3110001L23Rik, cI-37 |
| MMRRC Submission |
045590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
9449085-9669344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 9517697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 475
(V475E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078139]
[ENSMUST00000108339]
[ENSMUST00000108340]
|
| AlphaFold |
Q8BSY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078139
AA Change: V475E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077273
Gene: ENSMUSG00000028207
AA Change: V475E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Asp-B-Hydro_N
|
52 |
307 |
7e-104 |
PFAM |
|
Pfam:TPR_6
|
326 |
357 |
4.4e-5 |
PFAM |
|
Pfam:TPR_16
|
328 |
398 |
1.3e-9 |
PFAM |
|
Pfam:TPR_2
|
439 |
470 |
2.6e-4 |
PFAM |
|
Pfam:TPR_8
|
441 |
470 |
1.7e-3 |
PFAM |
|
Pfam:Asp_Arg_Hydrox
|
574 |
728 |
7.6e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108339
AA Change: V392E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103976
Gene: ENSMUSG00000028207
AA Change: V392E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp-B-Hydro_N
|
1 |
224 |
1.6e-80 |
PFAM |
|
Pfam:TPR_6
|
243 |
274 |
1.4e-4 |
PFAM |
|
Pfam:TPR_16
|
245 |
315 |
2.5e-9 |
PFAM |
|
Pfam:TPR_2
|
356 |
387 |
7e-4 |
PFAM |
|
Pfam:Asp_Arg_Hydrox
|
489 |
646 |
5.3e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108340
AA Change: V459E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103977
Gene: ENSMUSG00000028207
AA Change: V459E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
|
Pfam:Asp-B-Hydro_N
|
52 |
291 |
8.6e-96 |
PFAM |
|
Pfam:TPR_6
|
310 |
341 |
1.9e-4 |
PFAM |
|
Pfam:TPR_16
|
312 |
382 |
2.9e-9 |
PFAM |
|
Pfam:TPR_2
|
423 |
454 |
6.8e-4 |
PFAM |
|
Pfam:Asp_Arg_Hydrox
|
556 |
713 |
3.8e-64 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
| Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
| Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
| Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
| Ddx21 |
G |
A |
10: 62,424,569 (GRCm39) |
P544L |
probably damaging |
Het |
| Epas1 |
C |
A |
17: 87,138,526 (GRCm39) |
T874N |
possibly damaging |
Het |
| Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
| Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
| Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,265,059 (GRCm39) |
T674A |
probably benign |
Het |
| Hnrnph3 |
A |
G |
10: 62,854,674 (GRCm39) |
L39S |
unknown |
Het |
| Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
| Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
| Lrrc26 |
T |
C |
2: 25,180,545 (GRCm39) |
I182T |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
| Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
| Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,088,072 (GRCm39) |
*1162K |
probably null |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
| Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
| Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
| Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
| Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
| Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
| Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
| Tgm3 |
T |
G |
2: 129,883,684 (GRCm39) |
S447R |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
| Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
Het |
|
| Other mutations in Asph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Asph
|
APN |
4 |
9,639,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00928:Asph
|
APN |
4 |
9,594,675 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01022:Asph
|
APN |
4 |
9,601,344 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01677:Asph
|
APN |
4 |
9,607,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01907:Asph
|
APN |
4 |
9,514,643 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01958:Asph
|
APN |
4 |
9,474,904 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01976:Asph
|
APN |
4 |
9,475,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01989:Asph
|
APN |
4 |
9,602,462 (GRCm39) |
splice site |
probably benign |
|
|
IGL02379:Asph
|
APN |
4 |
9,474,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02444:Asph
|
APN |
4 |
9,542,319 (GRCm39) |
splice site |
probably benign |
|
|
IGL02652:Asph
|
APN |
4 |
9,529,984 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02679:Asph
|
APN |
4 |
9,601,349 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02735:Asph
|
APN |
4 |
9,598,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02875:Asph
|
APN |
4 |
9,595,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03022:Asph
|
APN |
4 |
9,517,668 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0026:Asph
|
UTSW |
4 |
9,601,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0121:Asph
|
UTSW |
4 |
9,635,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Asph
|
UTSW |
4 |
9,453,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0410:Asph
|
UTSW |
4 |
9,595,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Asph
|
UTSW |
4 |
9,604,581 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0577:Asph
|
UTSW |
4 |
9,604,620 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0718:Asph
|
UTSW |
4 |
9,514,683 (GRCm39) |
splice site |
probably benign |
|
|
R0725:Asph
|
UTSW |
4 |
9,542,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1383:Asph
|
UTSW |
4 |
9,537,807 (GRCm39) |
splice site |
probably null |
|
|
R1654:Asph
|
UTSW |
4 |
9,453,315 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1694:Asph
|
UTSW |
4 |
9,610,869 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1771:Asph
|
UTSW |
4 |
9,598,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1776:Asph
|
UTSW |
4 |
9,598,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1840:Asph
|
UTSW |
4 |
9,601,340 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1911:Asph
|
UTSW |
4 |
9,453,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Asph
|
UTSW |
4 |
9,453,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Asph
|
UTSW |
4 |
9,517,671 (GRCm39) |
nonsense |
probably null |
|
|
R2860:Asph
|
UTSW |
4 |
9,598,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Asph
|
UTSW |
4 |
9,598,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Asph
|
UTSW |
4 |
9,542,314 (GRCm39) |
splice site |
probably benign |
|
|
R3907:Asph
|
UTSW |
4 |
9,474,934 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4154:Asph
|
UTSW |
4 |
9,639,250 (GRCm39) |
nonsense |
probably null |
|
|
R4623:Asph
|
UTSW |
4 |
9,622,005 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4871:Asph
|
UTSW |
4 |
9,531,968 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5196:Asph
|
UTSW |
4 |
9,607,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5540:Asph
|
UTSW |
4 |
9,635,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5757:Asph
|
UTSW |
4 |
9,637,722 (GRCm39) |
splice site |
probably null |
|
|
R6063:Asph
|
UTSW |
4 |
9,531,960 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6072:Asph
|
UTSW |
4 |
9,643,533 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7016:Asph
|
UTSW |
4 |
9,630,604 (GRCm39) |
splice site |
probably null |
|
|
R7133:Asph
|
UTSW |
4 |
9,484,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7154:Asph
|
UTSW |
4 |
9,630,930 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7201:Asph
|
UTSW |
4 |
9,474,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7316:Asph
|
UTSW |
4 |
9,537,746 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7455:Asph
|
UTSW |
4 |
9,531,732 (GRCm39) |
splice site |
probably null |
|
|
R7516:Asph
|
UTSW |
4 |
9,630,940 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7736:Asph
|
UTSW |
4 |
9,621,930 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7818:Asph
|
UTSW |
4 |
9,475,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8356:Asph
|
UTSW |
4 |
9,537,722 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8456:Asph
|
UTSW |
4 |
9,537,722 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8768:Asph
|
UTSW |
4 |
9,453,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Asph
|
UTSW |
4 |
9,630,947 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9024:Asph
|
UTSW |
4 |
9,475,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Asph
|
UTSW |
4 |
9,474,928 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9390:Asph
|
UTSW |
4 |
9,635,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9708:Asph
|
UTSW |
4 |
9,542,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Asph
|
UTSW |
4 |
9,630,715 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTGAGATACATGCACTC -3'
(R):5'- CGTTTAATGGTAGCGGTGAGAC -3'
Sequencing Primer
(F):5'- CCTGAGATACATGCACTCTGAGG -3'
(R):5'- CAAGACGCTCCCACAGTGTTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation