Incidental Mutation 'R5799:Accsl'
| ID |
447383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Accsl
|
| Ensembl Gene |
ENSMUSG00000075023 |
| Gene Name |
1-aminocyclopropane-1-carboxylate synthase (inactive)-like |
| Synonyms |
|
| MMRRC Submission |
043388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5799 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
93685706-93699502 bp(-) (GRCm39) |
| Type of Mutation |
splice site (1472 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 93694748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099690]
[ENSMUST00000133562]
[ENSMUST00000143033]
|
| AlphaFold |
Q3UX83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099690
AA Change: I207V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097281
Gene: ENSMUSG00000075023
AA Change: I207V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
Pfam:Aminotran_1_2
|
190 |
568 |
6.9e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128995
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129248
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000133562
|
| SMART Domains |
Protein: ENSMUSP00000120924
Gene: ENSMUSG00000075023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141561
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000143033
|
| SMART Domains |
Protein: ENSMUSP00000118053
Gene: ENSMUSG00000075023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3015 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
89% (51/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
T |
1: 130,668,908 (GRCm39) |
Q92* |
probably null |
Het |
| Ahnak2 |
T |
C |
12: 112,745,365 (GRCm39) |
|
probably benign |
Het |
| Alcam |
T |
C |
16: 52,130,212 (GRCm39) |
D46G |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,218,247 (GRCm39) |
S57P |
probably damaging |
Het |
| Atg14 |
A |
T |
14: 47,784,752 (GRCm39) |
V314D |
possibly damaging |
Het |
| C230029F24Rik |
C |
T |
1: 49,377,307 (GRCm39) |
|
noncoding transcript |
Het |
| Calcr |
A |
T |
6: 3,707,592 (GRCm39) |
I236N |
probably benign |
Het |
| Cass4 |
G |
A |
2: 172,258,107 (GRCm39) |
G35E |
probably damaging |
Het |
| Chmp6 |
T |
C |
11: 119,807,517 (GRCm39) |
I120T |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,684,919 (GRCm39) |
|
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,004,631 (GRCm39) |
M1K |
probably null |
Het |
| Ddhd2 |
T |
A |
8: 26,238,629 (GRCm39) |
L328F |
probably damaging |
Het |
| Defa40 |
T |
A |
8: 21,740,359 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
A |
G |
10: 77,887,860 (GRCm39) |
D123G |
possibly damaging |
Het |
| Eea1 |
T |
A |
10: 95,838,810 (GRCm39) |
V287E |
possibly damaging |
Het |
| Efcc1 |
A |
G |
6: 87,708,164 (GRCm39) |
N97S |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,369,262 (GRCm39) |
S118P |
probably benign |
Het |
| Ext2 |
G |
T |
2: 93,642,317 (GRCm39) |
T184K |
probably benign |
Het |
| Fam186a |
G |
A |
15: 99,864,705 (GRCm39) |
Q42* |
probably null |
Het |
| Gbp2 |
A |
T |
3: 142,337,843 (GRCm39) |
I320L |
probably benign |
Het |
| Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
| H2-Q5 |
T |
C |
17: 35,613,115 (GRCm39) |
M5T |
unknown |
Het |
| Jak3 |
C |
T |
8: 72,131,344 (GRCm39) |
L70F |
probably damaging |
Het |
| Lhpp |
G |
A |
7: 132,307,364 (GRCm39) |
V254M |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,030,184 (GRCm39) |
V387E |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,755,093 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
C |
T |
5: 105,629,208 (GRCm39) |
S518L |
probably benign |
Het |
| Narf |
T |
C |
11: 121,135,480 (GRCm39) |
Y111H |
probably damaging |
Het |
| Ncf4 |
A |
G |
15: 78,135,177 (GRCm39) |
K78R |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,330,601 (GRCm39) |
C1118* |
probably null |
Het |
| Nubp2 |
A |
G |
17: 25,104,772 (GRCm39) |
V23A |
probably damaging |
Het |
| Or4l1 |
A |
T |
14: 50,166,497 (GRCm39) |
F168Y |
probably damaging |
Het |
| Or6c219 |
A |
T |
10: 129,781,780 (GRCm39) |
D50E |
possibly damaging |
Het |
| Or8g55 |
T |
C |
9: 39,785,392 (GRCm39) |
S274P |
possibly damaging |
Het |
| Pdzd7 |
G |
A |
19: 45,025,428 (GRCm39) |
P356S |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,056,070 (GRCm39) |
V984A |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,516,925 (GRCm39) |
S3334P |
probably damaging |
Het |
| Senp7 |
G |
A |
16: 55,959,468 (GRCm39) |
|
probably null |
Het |
| Slc25a3 |
A |
C |
10: 90,957,903 (GRCm39) |
Y50D |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc38a2 |
A |
T |
15: 96,592,970 (GRCm39) |
S163T |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,610,922 (GRCm39) |
C4* |
probably null |
Het |
| Taf1a |
A |
G |
1: 183,177,272 (GRCm39) |
D50G |
possibly damaging |
Het |
| Taf6l |
A |
T |
19: 8,759,995 (GRCm39) |
Y106N |
possibly damaging |
Het |
| Taf7l2 |
T |
C |
10: 115,948,674 (GRCm39) |
E284G |
probably damaging |
Het |
| Tbx20 |
G |
A |
9: 24,636,816 (GRCm39) |
Q424* |
probably null |
Het |
| Tex10 |
A |
G |
4: 48,433,295 (GRCm39) |
V829A |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,257,474 (GRCm39) |
|
probably benign |
Het |
| Tnfsf10 |
G |
T |
3: 27,389,742 (GRCm39) |
V268F |
probably damaging |
Het |
| Trrap |
A |
G |
5: 144,767,755 (GRCm39) |
T2571A |
probably benign |
Het |
|
| Other mutations in Accsl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02336:Accsl
|
APN |
2 |
93,696,253 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02511:Accsl
|
APN |
2 |
93,692,111 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03248:Accsl
|
APN |
2 |
93,693,129 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03338:Accsl
|
APN |
2 |
93,686,092 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0323:Accsl
|
UTSW |
2 |
93,691,425 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0449:Accsl
|
UTSW |
2 |
93,696,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1172:Accsl
|
UTSW |
2 |
93,696,589 (GRCm39) |
splice site |
probably benign |
|
|
R1173:Accsl
|
UTSW |
2 |
93,696,589 (GRCm39) |
splice site |
probably benign |
|
|
R1175:Accsl
|
UTSW |
2 |
93,696,589 (GRCm39) |
splice site |
probably benign |
|
|
R1752:Accsl
|
UTSW |
2 |
93,688,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Accsl
|
UTSW |
2 |
93,689,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Accsl
|
UTSW |
2 |
93,689,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2878:Accsl
|
UTSW |
2 |
93,689,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4472:Accsl
|
UTSW |
2 |
93,694,337 (GRCm39) |
splice site |
probably null |
|
|
R4472:Accsl
|
UTSW |
2 |
93,694,336 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5400:Accsl
|
UTSW |
2 |
93,689,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5502:Accsl
|
UTSW |
2 |
93,687,289 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5610:Accsl
|
UTSW |
2 |
93,692,118 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5636:Accsl
|
UTSW |
2 |
93,699,370 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6376:Accsl
|
UTSW |
2 |
93,687,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Accsl
|
UTSW |
2 |
93,696,488 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7311:Accsl
|
UTSW |
2 |
93,696,160 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7564:Accsl
|
UTSW |
2 |
93,688,501 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7731:Accsl
|
UTSW |
2 |
93,691,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7835:Accsl
|
UTSW |
2 |
93,696,329 (GRCm39) |
nonsense |
probably null |
|
|
R8184:Accsl
|
UTSW |
2 |
93,686,086 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8305:Accsl
|
UTSW |
2 |
93,696,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8824:Accsl
|
UTSW |
2 |
93,693,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8868:Accsl
|
UTSW |
2 |
93,696,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8954:Accsl
|
UTSW |
2 |
93,688,299 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9172:Accsl
|
UTSW |
2 |
93,691,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9473:Accsl
|
UTSW |
2 |
93,686,092 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9513:Accsl
|
UTSW |
2 |
93,699,498 (GRCm39) |
unclassified |
probably benign |
|
|
Z1088:Accsl
|
UTSW |
2 |
93,696,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACATACGAGGCTAGGC -3'
(R):5'- ACACCAGTTGAACTATGTTGTGGC -3'
Sequencing Primer
(F):5'- TCACTGCATACCTGTTAGACGAC -3'
(R):5'- AACTATGTTGTGGCATGGTGAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation