Incidental Mutation 'R1403:Acsf2'
| ID |
160457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsf2
|
| Ensembl Gene |
ENSMUSG00000076435 |
| Gene Name |
acyl-CoA synthetase family member 2 |
| Synonyms |
|
| MMRRC Submission |
039465-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1403 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94447928-94492697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 94453700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 420
(N420K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040418]
[ENSMUST00000103164]
|
| AlphaFold |
Q8VCW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040418
|
| SMART Domains |
Protein: ENSMUSP00000047844
Gene: ENSMUSG00000039084
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
LRRNT
|
21 |
54 |
1.7e-7 |
SMART |
|
LRR_TYP
|
73 |
96 |
9.58e-3 |
SMART |
|
LRR_TYP
|
97 |
120 |
1.45e-2 |
SMART |
|
LRR_TYP
|
121 |
144 |
1.69e-3 |
SMART |
|
LRR_TYP
|
145 |
168 |
6.42e-4 |
SMART |
|
LRR
|
170 |
192 |
2.2e1 |
SMART |
|
LRR
|
193 |
216 |
2.14e1 |
SMART |
|
LRR_TYP
|
217 |
240 |
4.17e-3 |
SMART |
|
LRR
|
245 |
265 |
2.27e2 |
SMART |
|
LRR
|
266 |
289 |
3.36e1 |
SMART |
|
LRRCT
|
299 |
346 |
1.1e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103164
AA Change: N420K
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: N420K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
78 |
516 |
3.9e-100 |
PFAM |
|
Pfam:AMP-binding_C
|
524 |
599 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131808
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.5%
- 10x: 88.5%
- 20x: 65.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
| Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
| Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
| Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
| Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
| Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,267,411 (GRCm39) |
L2042F |
possibly damaging |
Het |
| Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
| Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
| Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
| Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
| Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
| Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
| Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
| Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
| Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
| Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
| Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
| Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
Het |
|
| Other mutations in Acsf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Acsf2
|
APN |
11 |
94,461,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02218:Acsf2
|
APN |
11 |
94,492,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02602:Acsf2
|
APN |
11 |
94,461,291 (GRCm39) |
splice site |
probably benign |
|
|
Citrus
|
UTSW |
11 |
94,462,476 (GRCm39) |
missense |
probably benign |
0.11 |
|
Cocktail
|
UTSW |
11 |
94,461,211 (GRCm39) |
missense |
probably benign |
0.06 |
|
limonene
|
UTSW |
11 |
94,453,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Acsf2
|
UTSW |
11 |
94,460,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0194:Acsf2
|
UTSW |
11 |
94,452,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1400:Acsf2
|
UTSW |
11 |
94,461,142 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1403:Acsf2
|
UTSW |
11 |
94,453,700 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1512:Acsf2
|
UTSW |
11 |
94,452,224 (GRCm39) |
splice site |
probably benign |
|
|
R2007:Acsf2
|
UTSW |
11 |
94,462,466 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2271:Acsf2
|
UTSW |
11 |
94,449,699 (GRCm39) |
nonsense |
probably null |
|
|
R3610:Acsf2
|
UTSW |
11 |
94,452,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4447:Acsf2
|
UTSW |
11 |
94,460,185 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4717:Acsf2
|
UTSW |
11 |
94,450,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4857:Acsf2
|
UTSW |
11 |
94,460,164 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4974:Acsf2
|
UTSW |
11 |
94,460,155 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5090:Acsf2
|
UTSW |
11 |
94,462,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5185:Acsf2
|
UTSW |
11 |
94,453,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5732:Acsf2
|
UTSW |
11 |
94,460,768 (GRCm39) |
unclassified |
probably benign |
|
|
R5797:Acsf2
|
UTSW |
11 |
94,462,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5872:Acsf2
|
UTSW |
11 |
94,463,975 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6350:Acsf2
|
UTSW |
11 |
94,449,156 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6903:Acsf2
|
UTSW |
11 |
94,450,417 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6912:Acsf2
|
UTSW |
11 |
94,461,206 (GRCm39) |
missense |
probably benign |
|
|
R7336:Acsf2
|
UTSW |
11 |
94,462,476 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7531:Acsf2
|
UTSW |
11 |
94,464,057 (GRCm39) |
splice site |
probably null |
|
|
R8026:Acsf2
|
UTSW |
11 |
94,453,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8231:Acsf2
|
UTSW |
11 |
94,452,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8355:Acsf2
|
UTSW |
11 |
94,461,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8486:Acsf2
|
UTSW |
11 |
94,460,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8525:Acsf2
|
UTSW |
11 |
94,463,446 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8956:Acsf2
|
UTSW |
11 |
94,461,211 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9288:Acsf2
|
UTSW |
11 |
94,464,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9481:Acsf2
|
UTSW |
11 |
94,464,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9564:Acsf2
|
UTSW |
11 |
94,463,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9620:Acsf2
|
UTSW |
11 |
94,463,412 (GRCm39) |
nonsense |
probably null |
|
|
R9671:Acsf2
|
UTSW |
11 |
94,460,802 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9742:Acsf2
|
UTSW |
11 |
94,463,963 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTGGGAAAAGAAGAATCCATGCTC -3'
(R):5'- AGCTGCACTTCTGGCTTCTGAC -3'
Sequencing Primer
(F):5'- gctctccctgcttcagcc -3'
(R):5'- GGCTTCTGACCTCTGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation