Incidental Mutation 'R9202:Asphd1'
| ID |
698274 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Asphd1
|
| Ensembl Gene |
ENSMUSG00000046378 |
| Gene Name |
aspartate beta-hydroxylase domain containing 1 |
| Synonyms |
A830007L07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R9202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126545159-126548754 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126547934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 123
(Y123F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032924]
[ENSMUST00000052937]
[ENSMUST00000106332]
[ENSMUST00000106333]
[ENSMUST00000106335]
[ENSMUST00000106339]
[ENSMUST00000106340]
[ENSMUST00000146017]
|
| AlphaFold |
Q2TA57 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032924
|
| SMART Domains |
Protein: ENSMUSP00000032924
Gene: ENSMUSG00000030685
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
18 |
32 |
N/A |
INTRINSIC |
|
BTB
|
41 |
141 |
6.48e-15 |
SMART |
|
low complexity region
|
276 |
314 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052937
|
| SMART Domains |
Protein: ENSMUSP00000049848
Gene: ENSMUSG00000046378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_Arg_Hydrox
|
1 |
92 |
5.5e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106332
|
| SMART Domains |
Protein: ENSMUSP00000101939
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
108 |
N/A |
INTRINSIC |
|
CUB
|
113 |
226 |
8.25e-4 |
SMART |
|
CCP
|
230 |
285 |
3.75e-15 |
SMART |
|
CUB
|
289 |
399 |
1.3e-3 |
SMART |
|
CCP
|
404 |
463 |
8.9e-8 |
SMART |
|
CUB
|
467 |
578 |
3.45e-14 |
SMART |
|
CCP
|
584 |
639 |
1.18e-12 |
SMART |
|
CCP
|
645 |
704 |
1.31e-14 |
SMART |
|
CCP
|
711 |
768 |
2.76e-13 |
SMART |
|
transmembrane domain
|
798 |
820 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106333
|
| SMART Domains |
Protein: ENSMUSP00000101940
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
CUB
|
173 |
286 |
8.25e-4 |
SMART |
|
CCP
|
290 |
345 |
3.75e-15 |
SMART |
|
CUB
|
349 |
459 |
1.3e-3 |
SMART |
|
CCP
|
464 |
523 |
8.9e-8 |
SMART |
|
CUB
|
527 |
638 |
3.45e-14 |
SMART |
|
CCP
|
644 |
699 |
1.18e-12 |
SMART |
|
CCP
|
705 |
764 |
1.31e-14 |
SMART |
|
CCP
|
771 |
828 |
2.76e-13 |
SMART |
|
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106335
|
| SMART Domains |
Protein: ENSMUSP00000101942
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
168 |
N/A |
INTRINSIC |
|
CUB
|
173 |
286 |
8.25e-4 |
SMART |
|
CCP
|
290 |
345 |
3.75e-15 |
SMART |
|
CUB
|
349 |
459 |
1.3e-3 |
SMART |
|
CCP
|
464 |
523 |
8.9e-8 |
SMART |
|
CUB
|
527 |
638 |
3.45e-14 |
SMART |
|
CCP
|
644 |
699 |
1.18e-12 |
SMART |
|
CCP
|
705 |
764 |
1.31e-14 |
SMART |
|
CCP
|
771 |
828 |
2.76e-13 |
SMART |
|
transmembrane domain
|
845 |
867 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106339
|
| SMART Domains |
Protein: ENSMUSP00000101946
Gene: ENSMUSG00000046378
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Asp_Arg_Hydrox
|
1 |
92 |
5.5e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106340
AA Change: Y123F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101947
Gene: ENSMUSG00000046378
AA Change: Y123F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
170 |
N/A |
INTRINSIC |
|
Pfam:Asp_Arg_Hydrox
|
191 |
342 |
1.4e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146017
|
| SMART Domains |
Protein: ENSMUSP00000115905
Gene: ENSMUSG00000030683
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
91 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (41/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
T |
3: 127,479,938 (GRCm39) |
I17K |
|
Het |
| Ampd3 |
T |
C |
7: 110,402,346 (GRCm39) |
I441T |
probably damaging |
Het |
| Ankrd31 |
C |
T |
13: 97,015,383 (GRCm39) |
Q1551* |
probably null |
Het |
| Atf2 |
A |
G |
2: 73,649,472 (GRCm39) |
S380P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,970 (GRCm39) |
S310G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cep72 |
G |
T |
13: 74,198,420 (GRCm39) |
T320K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 64,708,947 (GRCm39) |
M662R |
probably damaging |
Het |
| Cyp2r1 |
T |
G |
7: 114,152,047 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
T |
A |
1: 190,744,351 (GRCm39) |
Y399F |
probably benign |
Het |
| Gimap8 |
T |
A |
6: 48,633,403 (GRCm39) |
F407L |
probably benign |
Het |
| Insrr |
C |
T |
3: 87,720,427 (GRCm39) |
R1022W |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,868,597 (GRCm39) |
|
probably null |
Het |
| Klhl35 |
A |
G |
7: 99,120,212 (GRCm39) |
N363S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,593,452 (GRCm39) |
T240A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,780,202 (GRCm39) |
V950A |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,333,428 (GRCm39) |
I175V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,618 (GRCm39) |
I149V |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,801 (GRCm39) |
F206I |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,254,498 (GRCm39) |
D515G |
probably benign |
Het |
| Pafah2 |
T |
C |
4: 134,131,440 (GRCm39) |
S68P |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,616,416 (GRCm39) |
|
probably null |
Het |
| Pde11a |
G |
T |
2: 75,853,077 (GRCm39) |
S847* |
probably null |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel19 |
A |
G |
4: 101,797,860 (GRCm39) |
D86G |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,416 (GRCm39) |
V546I |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,124,502 (GRCm39) |
G402V |
probably benign |
Het |
| Speg |
T |
C |
1: 75,367,637 (GRCm39) |
S715P |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Ugt1a2 |
G |
T |
1: 88,128,375 (GRCm39) |
C6F |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,974,444 (GRCm39) |
|
probably null |
Het |
| Vars2 |
T |
C |
17: 35,977,551 (GRCm39) |
Y127C |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,394 (GRCm39) |
F10S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,121,205 (GRCm39) |
D371G |
possibly damaging |
Het |
| Wdr89 |
C |
T |
12: 75,679,943 (GRCm39) |
E104K |
probably benign |
Het |
| Zbtb1 |
G |
T |
12: 76,433,784 (GRCm39) |
R590L |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,677,920 (GRCm39) |
D2990G |
possibly damaging |
Het |
| Zfp710 |
G |
A |
7: 79,731,609 (GRCm39) |
G262D |
probably damaging |
Het |
|
| Other mutations in Asphd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02388:Asphd1
|
APN |
7 |
126,545,884 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02675:Asphd1
|
APN |
7 |
126,546,006 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03133:Asphd1
|
APN |
7 |
126,547,452 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03197:Asphd1
|
APN |
7 |
126,545,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Asphd1
|
UTSW |
7 |
126,547,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
BB012:Asphd1
|
UTSW |
7 |
126,547,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1572:Asphd1
|
UTSW |
7 |
126,548,271 (GRCm39) |
missense |
probably benign |
|
|
R4871:Asphd1
|
UTSW |
7 |
126,547,747 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4952:Asphd1
|
UTSW |
7 |
126,547,857 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5261:Asphd1
|
UTSW |
7 |
126,545,287 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5504:Asphd1
|
UTSW |
7 |
126,545,350 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6254:Asphd1
|
UTSW |
7 |
126,548,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7068:Asphd1
|
UTSW |
7 |
126,547,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7250:Asphd1
|
UTSW |
7 |
126,545,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Asphd1
|
UTSW |
7 |
126,548,001 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7925:Asphd1
|
UTSW |
7 |
126,547,628 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8306:Asphd1
|
UTSW |
7 |
126,547,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Asphd1
|
UTSW |
7 |
126,547,974 (GRCm39) |
missense |
|
|
|
Z1176:Asphd1
|
UTSW |
7 |
126,547,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGGAGCTCCACGTCATG -3'
(R):5'- ATCATGTTTCCATGGCCACTG -3'
Sequencing Primer
(F):5'- TCCACGTCATGCCTCTGGG -3'
(R):5'- GCCCTTACTATGCTCCTCGGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation