Incidental Mutation 'R5694:Armc8'
| ID |
443827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
043325-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R5694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 99378202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035043
|
| SMART Domains |
Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
| Domain | Start | End | E-Value | Type |
|---|
|
ARM
|
50 |
92 |
1.75e0 |
SMART |
|
ARM
|
94 |
134 |
5.34e0 |
SMART |
|
ARM
|
177 |
217 |
2.04e1 |
SMART |
|
ARM
|
372 |
413 |
3.58e1 |
SMART |
|
Blast:ARM
|
414 |
455 |
7e-17 |
BLAST |
|
ARM
|
457 |
497 |
3.81e-1 |
SMART |
|
ARM
|
500 |
540 |
5.43e1 |
SMART |
|
Blast:ARM
|
542 |
585 |
1e-20 |
BLAST |
|
Blast:ARM
|
633 |
673 |
1e-16 |
BLAST |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
T |
6: 142,546,673 (GRCm39) |
I1353N |
probably damaging |
Het |
| Actr1a |
C |
A |
19: 46,384,157 (GRCm39) |
|
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,065,431 (GRCm39) |
M356K |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,971,736 (GRCm39) |
H7R |
probably benign |
Het |
| Angptl2 |
T |
C |
2: 33,118,628 (GRCm39) |
V134A |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,868,375 (GRCm39) |
D488G |
probably damaging |
Het |
| Cat |
A |
T |
2: 103,303,339 (GRCm39) |
V146E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,027,324 (GRCm39) |
V2144A |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 77,079,701 (GRCm39) |
D15A |
probably benign |
Het |
| Epha10 |
C |
T |
4: 124,796,446 (GRCm39) |
A385V |
unknown |
Het |
| Erg |
C |
A |
16: 95,161,890 (GRCm39) |
E388D |
probably benign |
Het |
| Fbxo10 |
T |
A |
4: 45,035,970 (GRCm39) |
I931F |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,912,353 (GRCm39) |
L673P |
probably damaging |
Het |
| Gm4922 |
A |
C |
10: 18,660,035 (GRCm39) |
I229S |
possibly damaging |
Het |
| Gnptab |
T |
A |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
| Htr7 |
T |
C |
19: 36,034,521 (GRCm39) |
M45V |
probably benign |
Het |
| Hycc1 |
C |
A |
5: 24,196,794 (GRCm39) |
L31F |
probably damaging |
Het |
| Igkv4-51 |
C |
T |
6: 69,658,911 (GRCm39) |
V5M |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,318,730 (GRCm39) |
E156K |
probably damaging |
Het |
| Map3k21 |
A |
G |
8: 126,671,507 (GRCm39) |
T932A |
probably benign |
Het |
| Mapk1 |
T |
G |
16: 16,836,333 (GRCm39) |
D160E |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,910,701 (GRCm39) |
Y479* |
probably null |
Het |
| Meig1 |
T |
A |
2: 3,412,999 (GRCm39) |
K7N |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,985,239 (GRCm39) |
D548E |
possibly damaging |
Het |
| Myo16 |
A |
G |
8: 10,619,606 (GRCm39) |
R1386G |
probably benign |
Het |
| Nphs2 |
T |
C |
1: 156,153,607 (GRCm39) |
S353P |
probably benign |
Het |
| Or12j4 |
T |
C |
7: 140,046,644 (GRCm39) |
F177L |
probably benign |
Het |
| Or8b1 |
T |
A |
9: 38,399,532 (GRCm39) |
I69K |
probably damaging |
Het |
| Pcdha9 |
G |
T |
18: 37,131,425 (GRCm39) |
V165L |
probably benign |
Het |
| Pde3a |
T |
A |
6: 141,196,228 (GRCm39) |
S305T |
possibly damaging |
Het |
| Phf14 |
C |
A |
6: 11,990,124 (GRCm39) |
L718I |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rab44 |
T |
A |
17: 29,364,940 (GRCm39) |
M645K |
unknown |
Het |
| Rab44 |
T |
C |
17: 29,359,474 (GRCm39) |
L554P |
probably damaging |
Het |
| Rnf222 |
A |
G |
11: 68,783,723 (GRCm39) |
T97A |
probably benign |
Het |
| Rnpepl1 |
T |
C |
1: 92,846,663 (GRCm39) |
S522P |
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,825,302 (GRCm39) |
I244V |
probably benign |
Het |
| Serpinb10 |
A |
T |
1: 107,463,187 (GRCm39) |
|
probably null |
Het |
| Siglech |
T |
A |
7: 55,418,404 (GRCm39) |
F124Y |
probably damaging |
Het |
| Smarcc2 |
A |
T |
10: 128,319,996 (GRCm39) |
I790L |
probably benign |
Het |
| Sos2 |
C |
A |
12: 69,637,689 (GRCm39) |
R1007S |
probably damaging |
Het |
| Stk4 |
C |
T |
2: 163,942,484 (GRCm39) |
T372M |
possibly damaging |
Het |
| Tbc1d10c |
A |
T |
19: 4,234,963 (GRCm39) |
L366H |
probably damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,932 (GRCm39) |
T324A |
probably benign |
Het |
| Trim12a |
C |
A |
7: 103,956,450 (GRCm39) |
C30F |
probably damaging |
Het |
| Ttll3 |
G |
A |
6: 113,376,669 (GRCm39) |
V350M |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,218,737 (GRCm39) |
D63E |
probably damaging |
Het |
| Unc5b |
G |
A |
10: 60,609,526 (GRCm39) |
T590I |
probably benign |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
C |
3: 159,545,624 (GRCm39) |
I16L |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,919 (GRCm39) |
I612M |
probably benign |
Het |
| Zfp677 |
C |
A |
17: 21,618,021 (GRCm39) |
D359E |
probably damaging |
Het |
|
| Other mutations in Armc8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Armc8
|
APN |
9 |
99,387,787 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00951:Armc8
|
APN |
9 |
99,387,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01776:Armc8
|
APN |
9 |
99,408,936 (GRCm39) |
splice site |
probably benign |
|
|
IGL02215:Armc8
|
APN |
9 |
99,366,031 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02244:Armc8
|
APN |
9 |
99,365,227 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02610:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02612:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02615:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02619:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02621:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02622:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02623:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02624:Armc8
|
APN |
9 |
99,409,122 (GRCm39) |
splice site |
probably benign |
|
|
Scrambler
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
warthog
|
UTSW |
9 |
99,402,538 (GRCm39) |
missense |
probably benign |
0.02 |
|
D4043:Armc8
|
UTSW |
9 |
99,366,029 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0321:Armc8
|
UTSW |
9 |
99,415,230 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0498:Armc8
|
UTSW |
9 |
99,379,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Armc8
|
UTSW |
9 |
99,387,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Armc8
|
UTSW |
9 |
99,418,211 (GRCm39) |
splice site |
probably benign |
|
|
R1061:Armc8
|
UTSW |
9 |
99,419,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Armc8
|
UTSW |
9 |
99,405,301 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1406:Armc8
|
UTSW |
9 |
99,405,301 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1429:Armc8
|
UTSW |
9 |
99,418,260 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1432:Armc8
|
UTSW |
9 |
99,405,185 (GRCm39) |
splice site |
probably benign |
|
|
R1538:Armc8
|
UTSW |
9 |
99,387,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1606:Armc8
|
UTSW |
9 |
99,419,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1817:Armc8
|
UTSW |
9 |
99,418,312 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1866:Armc8
|
UTSW |
9 |
99,418,333 (GRCm39) |
missense |
probably benign |
|
|
R2015:Armc8
|
UTSW |
9 |
99,365,158 (GRCm39) |
nonsense |
probably null |
|
|
R2143:Armc8
|
UTSW |
9 |
99,387,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2251:Armc8
|
UTSW |
9 |
99,384,653 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2842:Armc8
|
UTSW |
9 |
99,387,734 (GRCm39) |
missense |
probably benign |
|
|
R3010:Armc8
|
UTSW |
9 |
99,369,966 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3709:Armc8
|
UTSW |
9 |
99,402,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4440:Armc8
|
UTSW |
9 |
99,366,087 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4865:Armc8
|
UTSW |
9 |
99,408,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5492:Armc8
|
UTSW |
9 |
99,409,184 (GRCm39) |
nonsense |
probably null |
|
|
R5606:Armc8
|
UTSW |
9 |
99,418,315 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5639:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5693:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5698:Armc8
|
UTSW |
9 |
99,417,873 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5700:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5701:Armc8
|
UTSW |
9 |
99,378,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5735:Armc8
|
UTSW |
9 |
99,379,447 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6314:Armc8
|
UTSW |
9 |
99,417,937 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7034:Armc8
|
UTSW |
9 |
99,366,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7036:Armc8
|
UTSW |
9 |
99,366,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7393:Armc8
|
UTSW |
9 |
99,366,052 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7395:Armc8
|
UTSW |
9 |
99,415,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7937:Armc8
|
UTSW |
9 |
99,418,272 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8130:Armc8
|
UTSW |
9 |
99,433,600 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8373:Armc8
|
UTSW |
9 |
99,409,152 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8734:Armc8
|
UTSW |
9 |
99,402,538 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9098:Armc8
|
UTSW |
9 |
99,387,362 (GRCm39) |
nonsense |
probably null |
|
|
R9255:Armc8
|
UTSW |
9 |
99,379,441 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9358:Armc8
|
UTSW |
9 |
99,450,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9463:Armc8
|
UTSW |
9 |
99,378,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Armc8
|
UTSW |
9 |
99,379,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGAGATGGGTCAGTACATG -3'
(R):5'- AGATCTTGATCAGCTGCATGAG -3'
Sequencing Primer
(F):5'- AGATGGGTCAGTACATGTGGCATG -3'
(R):5'- TGATCAGCTGCATGAGACCCTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation