Incidental Mutation 'RF036:Acap3'
ID |
604576 |
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 # |
RF036 (G1)
|
Quality Score |
217.468 |
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) |
G to GGGCTGCATCCTGGGC
at 155989544 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 |
Abca17 |
T |
TCCCTG |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
Adgra3 |
GGCCGC |
GGC |
5: 50,215,983 (GRCm39) |
|
probably benign |
Het |
Blm |
CCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCT |
7: 80,162,662 (GRCm39) |
|
probably null |
Het |
Calhm1 |
C |
CTGTGGCTGTGGG |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
Cdx1 |
CTGCTG |
CTGCTGTTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
Cherp |
ACCTGGACC |
AC |
8: 73,215,888 (GRCm39) |
|
probably null |
Het |
Cherp |
TGGACC |
T |
8: 73,215,891 (GRCm39) |
|
probably null |
Het |
Cyb5r4 |
CAGACACACTGCC |
CAGACACACTGCCTAGGGATGTGATAGACACACTGCC |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
Fam171b |
GCAGC |
GCAGCAACAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TTTT |
TTTTTCTTT |
2: 82,814,707 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
Il2 |
GTGG |
GTGGGGCTTGAATTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
TCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT |
9: 106,447,810 (GRCm39) |
|
probably benign |
Het |
Ivl |
TGCTGCTGCTGCTGC |
T |
3: 92,479,648 (GRCm39) |
|
probably null |
Het |
Kif12 |
C |
CCTCCACCCGGCGGGT |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
Mamld1 |
CAG |
CAGAAG |
X: 70,162,446 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
CAG |
CAGGAG |
X: 70,162,434 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GTGAG |
GTGAGTCAGGCAATGAG |
19: 42,064,553 (GRCm39) |
|
probably null |
Het |
Nefh |
GGGAC |
GGGACGTGGCATCACCTGTGGAC |
11: 4,891,048 (GRCm39) |
|
probably benign |
Het |
Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
Nefh |
TGGCCTC |
TGGCCTCGCCTGGGGACTGGGCCTC |
11: 4,891,036 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
TTAGCAGTGAGGAGCA |
TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
TGAGGAGCAAGCTGAGA |
TGAGGAGCAAGCTGAGATACACGTTAGCAGGGAGGAGCAAGCTGAGA |
2: 119,458,075 (GRCm39) |
|
probably benign |
Het |
Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
Phc1 |
CTTGCTG |
CTTGCTGTTGCTG |
6: 122,300,539 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
TCATGGTCCTGTAGAGCAATGGGGATTC |
TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,774 (GRCm39) |
|
probably benign |
Het |
Rnf144a |
TCTCTCTCTC |
TCTCTCTCTCTCTCTCACTCTCTCTC |
12: 26,364,007 (GRCm39) |
|
probably benign |
Het |
Rnf144a |
CTCTC |
CTCTCTCTCTCTCTCTATCTC |
12: 26,364,012 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
AGAGGAAG |
A |
14: 52,386,998 (GRCm39) |
|
probably null |
Het |
Rsf1 |
CG |
CGATG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Setd1a |
GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,472 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAT |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
Stat1 |
G |
T |
1: 52,191,419 (GRCm39) |
E591D |
probably benign |
Het |
Strn |
CTTACCCCAGTC |
CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC |
17: 78,984,706 (GRCm39) |
|
probably null |
Het |
Tcof1 |
CT |
CTAGT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
AGC |
AGCGGC |
18: 60,968,808 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,028 (GRCm39) |
|
probably benign |
Het |
Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
Usp2 |
ACTTAC |
ACTTACTCATGTGACCCGTTCTTCCCTTAC |
9: 44,000,421 (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 |
|
RF038:Acap3
|
UTSW |
4 |
155,989,549 (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'- TCTGATGGCAGTTCAGATGTTC -3'
(R):5'- TTCATATAAGCCCTGCCTGTG -3'
Sequencing Primer
(F):5'- AGTGGTGGACAGTGTCACC -3'
(R):5'- TGTGCTCACCCCTAGTACAG -3'
|
Posted On |
2019-12-04 |