Incidental Mutation 'R1255:Asphd2'
| ID |
151413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asphd2
|
| Ensembl Gene |
ENSMUSG00000029348 |
| Gene Name |
aspartate beta-hydroxylase domain containing 2 |
| Synonyms |
9230106G13Rik, 2900006N09Rik |
| MMRRC Submission |
039322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
R1255 (G1)
|
| Quality Score |
188 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
112532220-112542732 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 112539677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 52
(V52G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031291]
[ENSMUST00000196256]
[ENSMUST00000197585]
[ENSMUST00000199095]
[ENSMUST00000199906]
[ENSMUST00000200227]
|
| AlphaFold |
Q80VP9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031291
AA Change: V52G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031291
Gene: ENSMUSG00000029348
AA Change: V52G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_Arg_Hydrox
|
166 |
325 |
8.3e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196256
AA Change: V52G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143290
Gene: ENSMUSG00000029348
AA Change: V52G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000197585
|
| SMART Domains |
Protein: ENSMUSP00000142418
Gene: ENSMUSG00000029348
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199906
AA Change: V52G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142332
Gene: ENSMUSG00000029348
AA Change: V52G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000200227
AA Change: V52G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142729
Gene: ENSMUSG00000029348
AA Change: V52G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
50 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,807,016 (GRCm39) |
S21C |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Acsf3 |
T |
C |
8: 123,512,705 (GRCm39) |
|
probably null |
Het |
| Aff3 |
A |
T |
1: 38,243,965 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
T |
5: 98,123,231 (GRCm39) |
I272N |
probably benign |
Het |
| Atxn3 |
T |
A |
12: 101,900,593 (GRCm39) |
Q230L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,581,132 (GRCm39) |
I9T |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ciz1 |
T |
A |
2: 32,255,888 (GRCm39) |
|
probably null |
Het |
| Dennd5b |
A |
T |
6: 148,943,148 (GRCm39) |
M576K |
possibly damaging |
Het |
| Ebf3 |
C |
T |
7: 136,826,941 (GRCm39) |
V315I |
probably benign |
Het |
| Epha5 |
G |
T |
5: 84,298,254 (GRCm39) |
A383E |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,298,255 (GRCm39) |
A383T |
probably damaging |
Het |
| Gimap1 |
T |
A |
6: 48,719,940 (GRCm39) |
V184E |
probably benign |
Het |
| Gtf2f1 |
A |
G |
17: 57,317,982 (GRCm39) |
V18A |
probably damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,559,416 (GRCm39) |
D562V |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,927,506 (GRCm39) |
T883A |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,151 (GRCm39) |
L1198Q |
probably damaging |
Het |
| Nipal2 |
T |
C |
15: 34,584,828 (GRCm39) |
I247V |
probably benign |
Het |
| Or5ak22 |
T |
A |
2: 85,230,647 (GRCm39) |
I77F |
probably damaging |
Het |
| Rad51ap2 |
G |
T |
12: 11,508,095 (GRCm39) |
K672N |
possibly damaging |
Het |
| Rbm28 |
C |
T |
6: 29,158,246 (GRCm39) |
G155D |
probably damaging |
Het |
| Sema6a |
A |
T |
18: 47,382,366 (GRCm39) |
M701K |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,260,974 (GRCm39) |
L142Q |
probably damaging |
Het |
| Snx25 |
A |
T |
8: 46,569,275 (GRCm39) |
N207K |
probably benign |
Het |
| Son |
T |
A |
16: 91,461,583 (GRCm39) |
V205E |
probably damaging |
Het |
| Spz1 |
C |
A |
13: 92,712,138 (GRCm39) |
V113F |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,120 (GRCm39) |
T336A |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,538,044 (GRCm39) |
D1852G |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,769,965 (GRCm39) |
E88G |
probably benign |
Het |
|
| Other mutations in Asphd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0487:Asphd2
|
UTSW |
5 |
112,539,501 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0836:Asphd2
|
UTSW |
5 |
112,539,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Asphd2
|
UTSW |
5 |
112,539,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5508:Asphd2
|
UTSW |
5 |
112,534,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Asphd2
|
UTSW |
5 |
112,533,623 (GRCm39) |
nonsense |
probably null |
|
|
R6351:Asphd2
|
UTSW |
5 |
112,533,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7605:Asphd2
|
UTSW |
5 |
112,539,807 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8339:Asphd2
|
UTSW |
5 |
112,539,501 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9041:Asphd2
|
UTSW |
5 |
112,539,768 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCCCTGGCTGACAAAGTCAAAG -3'
(R):5'- TCAAGCACGGAGTCCCTCAAGATG -3'
Sequencing Primer
(F):5'- TGTAGAGAGTCTCGAACTCGC -3'
(R):5'- TCCCTCAAGATGTGGCTGG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation