Incidental Mutation 'RF038:Acap3'
| ID |
604660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acap3
|
| Ensembl Gene |
ENSMUSG00000029033 |
| Gene Name |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
| Synonyms |
Centb5, Kiaa1716-hp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
RF038 (G1)
|
| Quality Score |
217.68 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155976332-155991708 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
GCATCCTGGGCTGCT to GCATCCTGGGCTGCTTCATCCTGGGCTGCT
at 155989549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079031]
[ENSMUST00000105584]
|
| AlphaFold |
Q6NXL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079031
|
| SMART Domains |
Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
31 |
N/A |
INTRINSIC |
|
PH
|
265 |
361 |
6.35e-16 |
SMART |
|
low complexity region
|
377 |
391 |
N/A |
INTRINSIC |
|
ArfGap
|
399 |
521 |
4.62e-56 |
SMART |
|
low complexity region
|
554 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
601 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
650 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
686 |
N/A |
INTRINSIC |
|
ANK
|
696 |
725 |
3.91e-3 |
SMART |
|
ANK
|
729 |
758 |
2.43e1 |
SMART |
|
low complexity region
|
781 |
796 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105584
|
| SMART Domains |
Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BAR_3
|
3 |
236 |
4.1e-95 |
PFAM |
|
PH
|
269 |
365 |
6.35e-16 |
SMART |
|
low complexity region
|
381 |
395 |
N/A |
INTRINSIC |
|
ArfGap
|
403 |
525 |
4.62e-56 |
SMART |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
621 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
690 |
N/A |
INTRINSIC |
|
ANK
|
700 |
729 |
3.91e-3 |
SMART |
|
ANK
|
733 |
762 |
2.43e1 |
SMART |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
813 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005L19Rik |
TGT |
TGTAGCTGCGGT |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
CTCTTC |
CTC |
17: 36,274,093 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCAGC |
19: 5,475,254 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GCG |
GCGACG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
CTGCTG |
CTGCTGGTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACACACACACTGCGCAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
| Dbr1 |
GAGGAG |
GAGGAGAAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
| Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTGGAAGTGGTGG |
GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG |
7: 30,466,619 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CTC |
CTCATC |
2: 130,612,664 (GRCm39) |
|
probably null |
Het |
| Enah |
TGGCGGCGG |
TGG |
1: 181,749,500 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
ACCCACTCCTGGTGT |
ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT |
17: 23,981,138 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
| Fscb |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,343 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
| Garin5a |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,149,946 (GRCm39) |
|
probably null |
Het |
| Gas1 |
AG |
AGATG |
13: 60,324,344 (GRCm39) |
|
probably benign |
Het |
| Gas1 |
CGAGGA |
CGAGGAGGA |
13: 60,324,342 (GRCm39) |
|
probably benign |
Het |
| Gm15155 |
CAAAAA |
CAAAAACAAAAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
| Habp4 |
TGAGG |
TG |
13: 64,309,976 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
CACAGCTGCAG |
CACAGCTGCAGCAGCAGCGACAGCTGCAG |
4: 59,610,648 (GRCm39) |
|
probably benign |
Het |
| Il2 |
CTT |
CTTCAAGTGGGGATT |
3: 37,179,970 (GRCm39) |
|
probably null |
Het |
| Irag2 |
TG |
TGAGCACATCG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,607 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CA |
CAACCAAA |
1: 83,019,849 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAGCCACAGCCACCACAGCCACAGCCACCA |
CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA |
1: 83,019,978 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
CATCTTGATGCCGTCCAA |
C |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
CAG |
CAGGAG |
X: 70,162,452 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,027 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTCACCTGGGGACTTGGC |
CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC |
11: 4,891,040 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,018 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,019 (GRCm39) |
|
probably benign |
Het |
| Pabpc6 |
AGCTGC |
AGC |
17: 9,887,044 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTTTTT |
TTTTTTTTGTTTTT |
15: 44,421,899 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
TGTAGAGCAATGGGGATTC |
TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC |
5: 90,756,783 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
GCAATGGGGATTC |
GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC |
5: 90,756,789 (GRCm39) |
|
probably benign |
Het |
| Rbm12 |
CAGGTATTGCGGGACC |
CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
| Sbp |
AAGATG |
AAGATGCTGACAACACAGATG |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
| Supt20 |
TTCAGCA |
TTCAGCATCAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
TCCCAGAGATCCCC |
TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
AGC |
AGCGGC |
17: 48,097,030 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTCCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCA |
CAGCACCAGAAGCA |
8: 109,682,733 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Acap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Acap3
|
APN |
4 |
155,986,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01815:Acap3
|
APN |
4 |
155,986,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Acap3
|
APN |
4 |
155,989,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Acap3
|
APN |
4 |
155,986,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Acap3
|
APN |
4 |
155,976,867 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03124:Acap3
|
APN |
4 |
155,989,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03052:Acap3
|
UTSW |
4 |
155,987,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4514001:Acap3
|
UTSW |
4 |
155,987,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0207:Acap3
|
UTSW |
4 |
155,983,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Acap3
|
UTSW |
4 |
155,986,785 (GRCm39) |
nonsense |
probably null |
|
|
R1110:Acap3
|
UTSW |
4 |
155,989,856 (GRCm39) |
splice site |
probably null |
|
|
R1387:Acap3
|
UTSW |
4 |
155,983,937 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1475:Acap3
|
UTSW |
4 |
155,987,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Acap3
|
UTSW |
4 |
155,980,631 (GRCm39) |
splice site |
probably benign |
|
|
R2136:Acap3
|
UTSW |
4 |
155,981,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Acap3
|
UTSW |
4 |
155,990,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2218:Acap3
|
UTSW |
4 |
155,988,319 (GRCm39) |
splice site |
probably null |
|
|
R2897:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
|
R2898:Acap3
|
UTSW |
4 |
155,987,916 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2898:Acap3
|
UTSW |
4 |
155,989,388 (GRCm39) |
splice site |
probably null |
|
|
R3008:Acap3
|
UTSW |
4 |
155,990,139 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4170:Acap3
|
UTSW |
4 |
155,984,458 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4193:Acap3
|
UTSW |
4 |
155,986,234 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4822:Acap3
|
UTSW |
4 |
155,986,908 (GRCm39) |
intron |
probably benign |
|
|
R4882:Acap3
|
UTSW |
4 |
155,990,112 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5482:Acap3
|
UTSW |
4 |
155,984,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Acap3
|
UTSW |
4 |
155,981,076 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5769:Acap3
|
UTSW |
4 |
155,986,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5943:Acap3
|
UTSW |
4 |
155,983,879 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6236:Acap3
|
UTSW |
4 |
155,989,664 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6259:Acap3
|
UTSW |
4 |
155,980,575 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6790:Acap3
|
UTSW |
4 |
155,987,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Acap3
|
UTSW |
4 |
155,988,306 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7352:Acap3
|
UTSW |
4 |
155,990,168 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7442:Acap3
|
UTSW |
4 |
155,990,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8722:Acap3
|
UTSW |
4 |
155,990,415 (GRCm39) |
makesense |
probably null |
|
|
R8810:Acap3
|
UTSW |
4 |
155,990,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Acap3
|
UTSW |
4 |
155,990,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9182:Acap3
|
UTSW |
4 |
155,989,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Acap3
|
UTSW |
4 |
155,990,145 (GRCm39) |
missense |
probably benign |
0.07 |
|
RF008:Acap3
|
UTSW |
4 |
155,989,555 (GRCm39) |
small insertion |
probably benign |
|
|
RF010:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Acap3
|
UTSW |
4 |
155,989,553 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Acap3
|
UTSW |
4 |
155,989,559 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Acap3
|
UTSW |
4 |
155,989,548 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Acap3
|
UTSW |
4 |
155,989,544 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Acap3
|
UTSW |
4 |
155,989,549 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Acap3
|
UTSW |
4 |
155,989,557 (GRCm39) |
small insertion |
probably benign |
|
|
Z1176:Acap3
|
UTSW |
4 |
155,989,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acap3
|
UTSW |
4 |
155,989,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGATGTTCTTGCCTTCGG -3'
(R):5'- GCACACGTAGGTATGCAGTC -3'
Sequencing Primer
(F):5'- AGTGGTGGACAGTGTCACC -3'
(R):5'- GCAGTCTTGTTTTTCATATAAGCCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation