Incidental Mutation 'RF039:Acap3'
| ID |
604704 |
| 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: 0.132)
|
| Stock # |
RF039 (G1)
|
| Quality Score |
214.458 |
|
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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
GGCGGC |
GGCGGCTGCGGC |
18: 36,693,971 (GRCm39) |
|
probably benign |
Het |
| Camkv |
CGCTGCTGC |
CGC |
9: 107,825,059 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
GCA |
G |
7: 105,083,893 (GRCm39) |
|
probably null |
Het |
| Cd276 |
G |
A |
9: 58,442,787 (GRCm39) |
R223C |
probably damaging |
Het |
| Cdx1 |
CTGCTG |
CTGCTGATGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTTCT |
17: 46,811,780 (GRCm39) |
|
probably benign |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGTCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
CTAAAAAAACAAAACA |
C |
11: 29,702,551 (GRCm39) |
|
probably benign |
Het |
| Eps8 |
C |
CTCAT |
6: 137,494,068 (GRCm39) |
|
probably null |
Het |
| Exd2 |
CACAGCCA |
C |
12: 80,522,715 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,610 (GRCm39) |
|
probably benign |
Het |
| Gm10718 |
ATTTTCAGTTTCCTCGCCATATTCCAGGTCCTACAGTGTGCATTTCTCATTTTTCACGTTTTTCAGT |
ATTTTCAGT |
9: 3,024,385 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,122 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTG |
GTGTTTTTG |
19: 11,489,146 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GG |
GGTGATGGAGCTTG |
7: 67,875,924 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGTTGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
GGC |
GGCCTCCAACCGGCCAGC |
4: 63,089,662 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG |
AGGAGGAGGAG |
4: 98,625,026 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG |
14: 75,184,989 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
ACCAATCACCAAC |
ACCAATCACCAACTGTTCCCTCGCCTCTGTTTCCCCCCCAATCACCAAC |
11: 58,281,057 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,432 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGAAG |
X: 70,162,446 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CCAGC |
CCAGCCCCAGCTCCAGCTCCAGCTCCAGCTACAGC |
2: 121,136,785 (GRCm39) |
|
probably benign |
Het |
| Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
| Nalf2 |
CCG |
CCGCCGGCG |
X: 98,864,978 (GRCm39) |
|
probably benign |
Het |
| Nefh |
AGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
AGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,007 (GRCm39) |
|
probably benign |
Het |
| Or4k41 |
G |
A |
2: 111,279,896 (GRCm39) |
G137D |
not run |
Het |
| Pdcd11 |
GGAGGAGA |
G |
19: 47,101,894 (GRCm39) |
|
probably null |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTTAACATC |
7: 16,695,369 (GRCm39) |
|
probably benign |
Het |
| Prp2 |
AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,464 (GRCm39) |
|
probably benign |
Het |
| Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
| Rassf6 |
TCATGGTCCTGTAGAGCAATGGGGATTC |
TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,774 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGTTCCTGTAGAGCAATGGGGTTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCCCCATGATCACTGTGCTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TC |
TCATCGTGATCACCATGGTCACCATGATCACTGTGGAC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
| Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
GCGATCCTCCCCAGTCCCGCAAGGCCA |
GCGATCCTCCCCAGGCCCGCAAGGCCACCGATCCTCCCCAGTCCCGCAAGGCCA |
5: 77,164,249 (GRCm39) |
|
probably benign |
Het |
| Strn |
TTACCCC |
TTACCCCTGGCCGTGCTCCCTTACCCCAGTCCGTGCGCCCGTACCCC |
17: 78,984,707 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
CGGAGGAGG |
CGG |
19: 38,825,401 (GRCm39) |
|
probably benign |
Het |
| Tent4a |
GACA |
G |
13: 69,681,973 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGAAG |
17: 48,097,020 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
CAG |
CAGTAG |
17: 48,097,035 (GRCm39) |
|
probably null |
Het |
| Thbs1 |
TGACCTTAG |
TG |
2: 117,953,346 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
9: 45,239,762 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAAACCCAGGACTCCCTGTGCCCAACGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CAGGACTCCCTGTGCCCAACGG |
CAGGACTCCCTGTGCCCAACGGAACAACCCAAGGACTCCCTGTGCCCAACGG |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
C |
T |
4: 25,280,628 (GRCm39) |
R73Q |
possibly damaging |
Het |
| Yipf3 |
AGAGGA |
AGA |
17: 46,559,898 (GRCm39) |
|
probably benign |
Het |
| Zc3h4 |
TGACATGCACCCTGACATGCACCCAGACATGCACCCCGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA |
TGACATGCACCCTGACATGCACCCCGACATGCACCCCGACATGCACCCTGACATGCA |
7: 16,163,543 (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 |
|
|
RF038: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'- CTCTGATGGCAGTTCAGATGTTC -3'
(R):5'- TCATATAAGCCCTGCCTGTG -3'
Sequencing Primer
(F):5'- AGTGGTGGACAGTGTCACC -3'
(R):5'- TGTGCTCACCCCTAGTACAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation