Incidental Mutation 'R6353:Asnsd1'
ID |
512276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Asnsd1
|
Ensembl Gene |
ENSMUSG00000026095 |
Gene Name |
asparagine synthetase domain containing 1 |
Synonyms |
2210409M21Rik |
MMRRC Submission |
044505-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.175)
|
Stock # |
R6353 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
53383776-53391911 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53386938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 230
(I230V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027264]
[ENSMUST00000123519]
[ENSMUST00000144660]
[ENSMUST00000147021]
[ENSMUST00000154402]
|
AlphaFold |
Q8BFS9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027264
AA Change: I230V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027264 Gene: ENSMUSG00000026095 AA Change: I230V
Domain | Start | End | E-Value | Type |
Pfam:GATase_7
|
59 |
162 |
2.4e-8 |
PFAM |
Pfam:Asn_synthase
|
305 |
388 |
6.9e-7 |
PFAM |
Pfam:Asn_synthase
|
505 |
619 |
2.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123519
|
SMART Domains |
Protein: ENSMUSP00000139025 Gene: ENSMUSG00000026095
Domain | Start | End | E-Value | Type |
Pfam:Asn_synthase
|
2 |
120 |
4.5e-42 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136468
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144660
AA Change: I230V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139404 Gene: ENSMUSG00000099913 AA Change: I230V
Domain | Start | End | E-Value | Type |
Pfam:GATase_7
|
59 |
162 |
1.4e-8 |
PFAM |
Pfam:Asn_synthase
|
304 |
565 |
5.6e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147021
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154402
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
Cnot10 |
A |
G |
9: 114,426,614 (GRCm39) |
L646P |
probably damaging |
Het |
Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
Gask1b |
A |
T |
3: 79,848,647 (GRCm39) |
R464S |
probably damaging |
Het |
Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
Or8b44 |
T |
C |
9: 38,410,112 (GRCm39) |
I49T |
probably benign |
Het |
Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
Rpap1 |
G |
T |
2: 119,607,377 (GRCm39) |
|
probably null |
Het |
Rrp8 |
G |
A |
7: 105,383,325 (GRCm39) |
R314* |
probably null |
Het |
Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
Tmeff2 |
T |
C |
1: 51,220,985 (GRCm39) |
V320A |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
Uxs1 |
T |
C |
1: 43,836,410 (GRCm39) |
I122V |
probably damaging |
Het |
Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
probably benign |
Het |
|
Other mutations in Asnsd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00555:Asnsd1
|
APN |
1 |
53,385,787 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00595:Asnsd1
|
APN |
1 |
53,386,647 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00705:Asnsd1
|
APN |
1 |
53,387,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01089:Asnsd1
|
APN |
1 |
53,387,436 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01747:Asnsd1
|
APN |
1 |
53,387,254 (GRCm39) |
nonsense |
probably null |
|
IGL02274:Asnsd1
|
APN |
1 |
53,386,734 (GRCm39) |
missense |
probably benign |
|
R2021:Asnsd1
|
UTSW |
1 |
53,386,386 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2022:Asnsd1
|
UTSW |
1 |
53,386,386 (GRCm39) |
missense |
possibly damaging |
0.53 |
R2126:Asnsd1
|
UTSW |
1 |
53,386,476 (GRCm39) |
missense |
probably benign |
0.00 |
R2174:Asnsd1
|
UTSW |
1 |
53,386,760 (GRCm39) |
missense |
probably benign |
0.44 |
R4120:Asnsd1
|
UTSW |
1 |
53,387,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R4435:Asnsd1
|
UTSW |
1 |
53,387,232 (GRCm39) |
splice site |
probably null |
|
R4464:Asnsd1
|
UTSW |
1 |
53,391,686 (GRCm39) |
splice site |
probably null |
|
R4499:Asnsd1
|
UTSW |
1 |
53,387,129 (GRCm39) |
missense |
probably benign |
|
R4622:Asnsd1
|
UTSW |
1 |
53,387,378 (GRCm39) |
missense |
probably benign |
0.13 |
R5090:Asnsd1
|
UTSW |
1 |
53,391,563 (GRCm39) |
unclassified |
probably benign |
|
R5832:Asnsd1
|
UTSW |
1 |
53,386,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R5891:Asnsd1
|
UTSW |
1 |
53,387,136 (GRCm39) |
missense |
probably benign |
0.00 |
R6215:Asnsd1
|
UTSW |
1 |
53,387,187 (GRCm39) |
splice site |
probably null |
|
R6217:Asnsd1
|
UTSW |
1 |
53,387,187 (GRCm39) |
missense |
probably benign |
0.02 |
R6405:Asnsd1
|
UTSW |
1 |
53,387,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R6913:Asnsd1
|
UTSW |
1 |
53,387,390 (GRCm39) |
missense |
probably damaging |
0.99 |
R7217:Asnsd1
|
UTSW |
1 |
53,387,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R7570:Asnsd1
|
UTSW |
1 |
53,387,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R7589:Asnsd1
|
UTSW |
1 |
53,387,126 (GRCm39) |
missense |
probably benign |
0.00 |
R7716:Asnsd1
|
UTSW |
1 |
53,386,902 (GRCm39) |
missense |
probably benign |
0.05 |
R8314:Asnsd1
|
UTSW |
1 |
53,385,814 (GRCm39) |
missense |
probably damaging |
0.98 |
R8351:Asnsd1
|
UTSW |
1 |
53,386,172 (GRCm39) |
critical splice donor site |
probably null |
|
R8990:Asnsd1
|
UTSW |
1 |
53,385,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Asnsd1
|
UTSW |
1 |
53,383,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATAAGATGCGTCTCTTGACTG -3'
(R):5'- AGACCAGTGGCAAGAAGTTCC -3'
Sequencing Primer
(F):5'- CTCTTGACTGAAACATTGAGGATGGC -3'
(R):5'- TGGCAAGAAGTTCCAGCATCTG -3'
|
Posted On |
2018-04-27 |