Incidental Mutation 'R2051:Acacb'
| ID |
226410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acacb
|
| Ensembl Gene |
ENSMUSG00000042010 |
| Gene Name |
acetyl-Coenzyme A carboxylase beta |
| Synonyms |
Acc2, Accb |
| MMRRC Submission |
040058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2051 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114284748-114388822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114383951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 2160
(Q2160L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031583]
[ENSMUST00000102582]
|
| AlphaFold |
E9Q4Z2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031583
AA Change: Q2160L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000031583
Gene: ENSMUSG00000042010
AA Change: Q2160L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
249 |
369 |
2.1e-32 |
PFAM |
|
Pfam:CPSase_L_D2
|
405 |
606 |
3.3e-52 |
PFAM |
|
Pfam:ATP-grasp_4
|
413 |
576 |
2.1e-9 |
PFAM |
|
Biotin_carb_C
|
640 |
747 |
9.54e-26 |
SMART |
|
Pfam:Biotin_lipoyl
|
885 |
951 |
1.9e-17 |
PFAM |
|
Pfam:ACC_central
|
952 |
1678 |
2.2e-290 |
PFAM |
|
Pfam:Carboxyl_trans
|
1770 |
2324 |
2.3e-181 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102582
AA Change: Q2160L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099642
Gene: ENSMUSG00000042010
AA Change: Q2160L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
60 |
N/A |
INTRINSIC |
|
Pfam:CPSase_L_chain
|
249 |
369 |
8.2e-29 |
PFAM |
|
Pfam:CPSase_L_D2
|
405 |
606 |
3.8e-52 |
PFAM |
|
Pfam:ATP-grasp_4
|
409 |
576 |
1.4e-12 |
PFAM |
|
Biotin_carb_C
|
640 |
747 |
9.54e-26 |
SMART |
|
Pfam:Biotin_lipoyl
|
885 |
951 |
9.1e-17 |
PFAM |
|
Pfam:ACC_central
|
952 |
1678 |
2.3e-250 |
PFAM |
|
Pfam:Carboxyl_trans
|
1770 |
2324 |
4.8e-172 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142489
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143276
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria. ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis. There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and overtly normal but exhibit high levels of fatty acid oxidation, as well as reduced fat accumulation in their adipose tissue and liver, and decreased storage of glycogen in their liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,562,447 (GRCm39) |
T98M |
probably damaging |
Het |
| 4932414N04Rik |
G |
T |
2: 68,541,392 (GRCm39) |
K10N |
possibly damaging |
Het |
| Aadat |
T |
A |
8: 60,960,173 (GRCm39) |
S40T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,278,098 (GRCm39) |
I3093V |
probably benign |
Het |
| Acp6 |
G |
T |
3: 97,075,333 (GRCm39) |
S189I |
probably benign |
Het |
| Actr5 |
A |
T |
2: 158,474,213 (GRCm39) |
M339L |
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,111,885 (GRCm39) |
K917* |
probably null |
Het |
| Adgrg5 |
C |
T |
8: 95,668,695 (GRCm39) |
R504C |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,354,246 (GRCm39) |
H188R |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,025,685 (GRCm39) |
C23* |
probably null |
Het |
| Ank3 |
T |
C |
10: 69,733,920 (GRCm39) |
I728T |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,508,642 (GRCm39) |
S1242P |
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,775,509 (GRCm39) |
R84H |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,995,320 (GRCm39) |
D7G |
probably null |
Het |
| Arid4b |
A |
G |
13: 14,362,230 (GRCm39) |
E898G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,680,281 (GRCm39) |
N727S |
probably benign |
Het |
| Baalc |
G |
T |
15: 38,796,629 (GRCm39) |
|
probably benign |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Chpf2 |
G |
T |
5: 24,796,274 (GRCm39) |
V407L |
probably benign |
Het |
| Chrnb3 |
C |
A |
8: 27,876,839 (GRCm39) |
N84K |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,451,221 (GRCm39) |
F2171L |
possibly damaging |
Het |
| Csmd3 |
C |
T |
15: 48,485,389 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
A |
5: 136,361,512 (GRCm39) |
Q138L |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,070,675 (GRCm39) |
N286S |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,716,356 (GRCm39) |
S17G |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,648,941 (GRCm39) |
S221P |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 31,001,080 (GRCm39) |
T2422P |
probably damaging |
Het |
| Enpp1 |
A |
G |
10: 24,587,702 (GRCm39) |
|
probably null |
Het |
| Erbb2 |
T |
C |
11: 98,310,998 (GRCm39) |
C53R |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,622,219 (GRCm39) |
V716A |
probably benign |
Het |
| Fam193a |
T |
A |
5: 34,619,494 (GRCm39) |
D766E |
probably benign |
Het |
| Fbxo43 |
C |
A |
15: 36,162,278 (GRCm39) |
G310W |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,819,785 (GRCm39) |
T2504I |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,587,876 (GRCm39) |
P418L |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,841,539 (GRCm39) |
T313A |
probably damaging |
Het |
| Gm12695 |
T |
A |
4: 96,658,008 (GRCm39) |
R54W |
probably damaging |
Het |
| Gm128 |
T |
C |
3: 95,148,051 (GRCm39) |
D81G |
possibly damaging |
Het |
| Gm21834 |
A |
G |
17: 58,048,763 (GRCm39) |
V151A |
possibly damaging |
Het |
| Grhl1 |
T |
A |
12: 24,636,151 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
C |
T |
13: 118,112,619 (GRCm39) |
T861I |
probably damaging |
Het |
| Herc6 |
C |
A |
6: 57,602,961 (GRCm39) |
Q547K |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,027,474 (GRCm39) |
L699P |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,668,339 (GRCm39) |
D36G |
probably damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,277 (GRCm39) |
S295T |
probably damaging |
Het |
| Krt18 |
T |
C |
15: 101,937,935 (GRCm39) |
V144A |
probably benign |
Het |
| Krtap9-5 |
A |
G |
11: 99,840,030 (GRCm39) |
I244V |
unknown |
Het |
| Leng1 |
T |
G |
7: 3,668,400 (GRCm39) |
N16T |
probably damaging |
Het |
| Lss |
A |
G |
10: 76,367,712 (GRCm39) |
K15E |
possibly damaging |
Het |
| Mastl |
G |
T |
2: 23,022,836 (GRCm39) |
A629E |
possibly damaging |
Het |
| Mavs |
G |
C |
2: 131,082,370 (GRCm39) |
A85P |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,660,536 (GRCm39) |
D678G |
probably damaging |
Het |
| Nsd3 |
T |
G |
8: 26,181,116 (GRCm39) |
S906A |
probably damaging |
Het |
| Nsfl1c |
A |
G |
2: 151,345,002 (GRCm39) |
N118S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,207,451 (GRCm39) |
M1501K |
probably benign |
Het |
| Or4p7 |
C |
T |
2: 88,221,882 (GRCm39) |
T97M |
possibly damaging |
Het |
| Or6n1 |
T |
A |
1: 173,916,785 (GRCm39) |
Y60N |
possibly damaging |
Het |
| Pax8 |
A |
G |
2: 24,326,520 (GRCm39) |
S281P |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,671,655 (GRCm39) |
I433R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,715,720 (GRCm39) |
N117D |
probably damaging |
Het |
| Pfkm |
A |
T |
15: 98,029,573 (GRCm39) |
D728V |
probably benign |
Het |
| Phkb |
T |
C |
8: 86,776,450 (GRCm39) |
|
probably null |
Het |
| Pkp4 |
T |
C |
2: 59,165,248 (GRCm39) |
V704A |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,673,160 (GRCm39) |
S501T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,546,398 (GRCm39) |
E284G |
possibly damaging |
Het |
| Ror1 |
C |
T |
4: 100,265,065 (GRCm39) |
R180* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,586,986 (GRCm39) |
Y2666F |
probably damaging |
Het |
| Sec23a |
C |
A |
12: 59,037,754 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
C |
T |
7: 27,175,694 (GRCm39) |
Q43* |
probably null |
Het |
| Setd2 |
C |
T |
9: 110,379,958 (GRCm39) |
H1258Y |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,232,407 (GRCm39) |
S177P |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,432,289 (GRCm39) |
F86S |
possibly damaging |
Het |
| Slc8a2 |
T |
C |
7: 15,874,940 (GRCm39) |
I396T |
probably damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,765,597 (GRCm39) |
F329S |
probably damaging |
Het |
| Slx4ip |
C |
T |
2: 136,908,125 (GRCm39) |
L161F |
possibly damaging |
Het |
| Sox4 |
A |
G |
13: 29,136,764 (GRCm39) |
S81P |
probably damaging |
Het |
| Ssc4d |
G |
T |
5: 135,999,118 (GRCm39) |
S28R |
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,592,950 (GRCm39) |
G369S |
possibly damaging |
Het |
| Swt1 |
T |
C |
1: 151,248,081 (GRCm39) |
Y836C |
probably damaging |
Het |
| Taar7d |
A |
G |
10: 23,903,904 (GRCm39) |
D262G |
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,212 (GRCm39) |
L327F |
probably benign |
Het |
| Tars1 |
A |
T |
15: 11,393,280 (GRCm39) |
L138* |
probably null |
Het |
| Tbcd |
A |
T |
11: 121,344,496 (GRCm39) |
D75V |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,184,394 (GRCm39) |
I25V |
probably damaging |
Het |
| Tmem132e |
G |
T |
11: 82,331,264 (GRCm39) |
S407I |
probably damaging |
Het |
| Tmem50b |
C |
A |
16: 91,377,180 (GRCm39) |
A95S |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,719,603 (GRCm39) |
I960T |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpcn1 |
G |
C |
5: 120,681,453 (GRCm39) |
P532A |
probably damaging |
Het |
| Tpsb2 |
T |
C |
17: 25,585,539 (GRCm39) |
|
probably benign |
Het |
| Triobp |
C |
A |
15: 78,888,740 (GRCm39) |
H1948Q |
probably damaging |
Het |
| Tshb |
T |
C |
3: 102,684,857 (GRCm39) |
I116V |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,398,950 (GRCm39) |
|
probably null |
Het |
| Usp34 |
A |
T |
11: 23,414,468 (GRCm39) |
T2804S |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,486,016 (GRCm39) |
C493S |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,766 (GRCm39) |
K605R |
possibly damaging |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,792 (GRCm39) |
Y357C |
probably damaging |
Het |
| Zc3h6 |
T |
G |
2: 128,857,538 (GRCm39) |
S686A |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,121,386 (GRCm39) |
P67L |
probably benign |
Het |
| Zyg11a |
T |
C |
4: 108,049,244 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Acacb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Acacb
|
APN |
5 |
114,338,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01291:Acacb
|
APN |
5 |
114,363,931 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01301:Acacb
|
APN |
5 |
114,384,559 (GRCm39) |
missense |
probably benign |
|
|
IGL01633:Acacb
|
APN |
5 |
114,356,919 (GRCm39) |
splice site |
probably benign |
|
|
IGL01736:Acacb
|
APN |
5 |
114,326,503 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL01782:Acacb
|
APN |
5 |
114,338,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01924:Acacb
|
APN |
5 |
114,362,047 (GRCm39) |
splice site |
probably benign |
|
|
IGL01933:Acacb
|
APN |
5 |
114,322,251 (GRCm39) |
splice site |
probably benign |
|
|
IGL02028:Acacb
|
APN |
5 |
114,304,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02045:Acacb
|
APN |
5 |
114,378,721 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02346:Acacb
|
APN |
5 |
114,376,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02421:Acacb
|
APN |
5 |
114,361,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02445:Acacb
|
APN |
5 |
114,383,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02491:Acacb
|
APN |
5 |
114,330,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02598:Acacb
|
APN |
5 |
114,384,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02700:Acacb
|
APN |
5 |
114,356,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02730:Acacb
|
APN |
5 |
114,304,210 (GRCm39) |
splice site |
probably benign |
|
|
IGL03110:Acacb
|
APN |
5 |
114,333,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03125:Acacb
|
APN |
5 |
114,342,866 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03263:Acacb
|
APN |
5 |
114,351,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03324:Acacb
|
APN |
5 |
114,363,915 (GRCm39) |
nonsense |
probably null |
|
|
acetone
|
UTSW |
5 |
114,364,918 (GRCm39) |
nonsense |
probably null |
|
|
anabolism
|
UTSW |
5 |
114,383,281 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
ANU05:Acacb
|
UTSW |
5 |
114,363,931 (GRCm39) |
missense |
probably benign |
0.03 |
|
ANU18:Acacb
|
UTSW |
5 |
114,384,559 (GRCm39) |
missense |
probably benign |
|
|
BB001:Acacb
|
UTSW |
5 |
114,383,281 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
BB011:Acacb
|
UTSW |
5 |
114,383,281 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
I0000:Acacb
|
UTSW |
5 |
114,376,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0001:Acacb
|
UTSW |
5 |
114,342,894 (GRCm39) |
splice site |
probably benign |
|
|
R0219:Acacb
|
UTSW |
5 |
114,371,005 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0234:Acacb
|
UTSW |
5 |
114,347,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0234:Acacb
|
UTSW |
5 |
114,347,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0278:Acacb
|
UTSW |
5 |
114,371,320 (GRCm39) |
nonsense |
probably null |
|
|
R0607:Acacb
|
UTSW |
5 |
114,338,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Acacb
|
UTSW |
5 |
114,367,813 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1116:Acacb
|
UTSW |
5 |
114,349,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1196:Acacb
|
UTSW |
5 |
114,383,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1204:Acacb
|
UTSW |
5 |
114,328,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1387:Acacb
|
UTSW |
5 |
114,338,573 (GRCm39) |
missense |
probably benign |
|
|
R1415:Acacb
|
UTSW |
5 |
114,303,982 (GRCm39) |
missense |
probably benign |
|
|
R1475:Acacb
|
UTSW |
5 |
114,333,313 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1497:Acacb
|
UTSW |
5 |
114,334,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Acacb
|
UTSW |
5 |
114,340,001 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1591:Acacb
|
UTSW |
5 |
114,341,484 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1644:Acacb
|
UTSW |
5 |
114,333,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Acacb
|
UTSW |
5 |
114,328,148 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1783:Acacb
|
UTSW |
5 |
114,347,828 (GRCm39) |
frame shift |
probably null |
|
|
R1784:Acacb
|
UTSW |
5 |
114,347,828 (GRCm39) |
frame shift |
probably null |
|
|
R1834:Acacb
|
UTSW |
5 |
114,373,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Acacb
|
UTSW |
5 |
114,334,770 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1886:Acacb
|
UTSW |
5 |
114,357,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1901:Acacb
|
UTSW |
5 |
114,303,795 (GRCm39) |
nonsense |
probably null |
|
|
R1902:Acacb
|
UTSW |
5 |
114,303,795 (GRCm39) |
nonsense |
probably null |
|
|
R1903:Acacb
|
UTSW |
5 |
114,303,795 (GRCm39) |
nonsense |
probably null |
|
|
R1924:Acacb
|
UTSW |
5 |
114,368,781 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1934:Acacb
|
UTSW |
5 |
114,336,343 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2132:Acacb
|
UTSW |
5 |
114,347,828 (GRCm39) |
frame shift |
probably null |
|
|
R2133:Acacb
|
UTSW |
5 |
114,347,828 (GRCm39) |
frame shift |
probably null |
|
|
R2260:Acacb
|
UTSW |
5 |
114,354,978 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2967:Acacb
|
UTSW |
5 |
114,304,131 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3421:Acacb
|
UTSW |
5 |
114,350,697 (GRCm39) |
splice site |
probably null |
|
|
R3729:Acacb
|
UTSW |
5 |
114,345,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4206:Acacb
|
UTSW |
5 |
114,351,712 (GRCm39) |
missense |
probably benign |
|
|
R4245:Acacb
|
UTSW |
5 |
114,368,845 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4386:Acacb
|
UTSW |
5 |
114,379,982 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4439:Acacb
|
UTSW |
5 |
114,384,557 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4577:Acacb
|
UTSW |
5 |
114,364,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4658:Acacb
|
UTSW |
5 |
114,338,625 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4688:Acacb
|
UTSW |
5 |
114,342,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4720:Acacb
|
UTSW |
5 |
114,367,975 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4898:Acacb
|
UTSW |
5 |
114,370,999 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5044:Acacb
|
UTSW |
5 |
114,304,088 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5070:Acacb
|
UTSW |
5 |
114,384,089 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5294:Acacb
|
UTSW |
5 |
114,380,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Acacb
|
UTSW |
5 |
114,382,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Acacb
|
UTSW |
5 |
114,347,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5531:Acacb
|
UTSW |
5 |
114,342,767 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5542:Acacb
|
UTSW |
5 |
114,333,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5751:Acacb
|
UTSW |
5 |
114,368,893 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5821:Acacb
|
UTSW |
5 |
114,322,167 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5893:Acacb
|
UTSW |
5 |
114,367,912 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5911:Acacb
|
UTSW |
5 |
114,370,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5944:Acacb
|
UTSW |
5 |
114,384,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Acacb
|
UTSW |
5 |
114,364,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6027:Acacb
|
UTSW |
5 |
114,303,661 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6103:Acacb
|
UTSW |
5 |
114,383,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Acacb
|
UTSW |
5 |
114,350,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Acacb
|
UTSW |
5 |
114,338,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6368:Acacb
|
UTSW |
5 |
114,354,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6429:Acacb
|
UTSW |
5 |
114,366,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Acacb
|
UTSW |
5 |
114,330,024 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7138:Acacb
|
UTSW |
5 |
114,345,387 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7241:Acacb
|
UTSW |
5 |
114,383,161 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7254:Acacb
|
UTSW |
5 |
114,347,812 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7396:Acacb
|
UTSW |
5 |
114,351,722 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7439:Acacb
|
UTSW |
5 |
114,333,703 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7484:Acacb
|
UTSW |
5 |
114,356,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7585:Acacb
|
UTSW |
5 |
114,384,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7712:Acacb
|
UTSW |
5 |
114,303,799 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7868:Acacb
|
UTSW |
5 |
114,386,288 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7873:Acacb
|
UTSW |
5 |
114,361,339 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7924:Acacb
|
UTSW |
5 |
114,383,281 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7940:Acacb
|
UTSW |
5 |
114,304,108 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7951:Acacb
|
UTSW |
5 |
114,326,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7960:Acacb
|
UTSW |
5 |
114,368,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7972:Acacb
|
UTSW |
5 |
114,364,918 (GRCm39) |
nonsense |
probably null |
|
|
R8007:Acacb
|
UTSW |
5 |
114,356,935 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8022:Acacb
|
UTSW |
5 |
114,361,915 (GRCm39) |
missense |
probably benign |
|
|
R8030:Acacb
|
UTSW |
5 |
114,371,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Acacb
|
UTSW |
5 |
114,333,297 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8264:Acacb
|
UTSW |
5 |
114,345,427 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8292:Acacb
|
UTSW |
5 |
114,338,555 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8678:Acacb
|
UTSW |
5 |
114,340,032 (GRCm39) |
nonsense |
probably null |
|
|
R8693:Acacb
|
UTSW |
5 |
114,364,844 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8697:Acacb
|
UTSW |
5 |
114,351,441 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8772:Acacb
|
UTSW |
5 |
114,322,179 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8918:Acacb
|
UTSW |
5 |
114,333,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Acacb
|
UTSW |
5 |
114,386,815 (GRCm39) |
splice site |
silent |
|
|
R9044:Acacb
|
UTSW |
5 |
114,373,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9165:Acacb
|
UTSW |
5 |
114,354,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9231:Acacb
|
UTSW |
5 |
114,349,153 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9440:Acacb
|
UTSW |
5 |
114,384,085 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9444:Acacb
|
UTSW |
5 |
114,384,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9562:Acacb
|
UTSW |
5 |
114,371,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9794:Acacb
|
UTSW |
5 |
114,387,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
V1662:Acacb
|
UTSW |
5 |
114,376,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Acacb
|
UTSW |
5 |
114,387,009 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGAATAGCCTGCCCAAG -3'
(R):5'- TGTCCTCTGGAGCCCTAACTAAC -3'
Sequencing Primer
(F):5'- AAGGTCACATGGGCCCTGAG -3'
(R):5'- CTCTGCCAAGACACTGTAGG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation