Incidental Mutation 'R0498:Armc8'
| ID |
40615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
038694-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R0498 (G1)
|
| Quality Score |
212 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99379345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 527
(V527A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035043
AA Change: V527A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: V527A
| 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 |
0.3764 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,718 (GRCm39) |
D220V |
probably benign |
Het |
| Adgrf2 |
A |
G |
17: 43,025,206 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,562,716 (GRCm39) |
V219A |
probably benign |
Het |
| Anapc10 |
A |
G |
8: 80,501,610 (GRCm39) |
D126G |
probably benign |
Het |
| Ap1m2 |
T |
C |
9: 21,207,129 (GRCm39) |
*426W |
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,867,928 (GRCm39) |
I865T |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,913,778 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
C |
2: 59,732,340 (GRCm39) |
|
probably benign |
Het |
| Bpifa5 |
T |
C |
2: 154,009,169 (GRCm39) |
V237A |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 86,088,745 (GRCm39) |
K52I |
possibly damaging |
Het |
| Cacna1g |
T |
C |
11: 94,350,685 (GRCm39) |
I387V |
probably damaging |
Het |
| Cbr4 |
A |
G |
8: 61,948,107 (GRCm39) |
I135V |
probably benign |
Het |
| Ccdc66 |
C |
T |
14: 27,222,197 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
A |
2: 13,449,078 (GRCm39) |
T999M |
probably damaging |
Het |
| Dnai3 |
G |
T |
3: 145,787,119 (GRCm39) |
D305E |
possibly damaging |
Het |
| Dpp8 |
C |
T |
9: 64,953,077 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,390 (GRCm39) |
S966P |
possibly damaging |
Het |
| Erp27 |
T |
C |
6: 136,896,862 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,034,786 (GRCm39) |
I2813L |
probably benign |
Het |
| Fhod1 |
G |
A |
8: 106,056,488 (GRCm39) |
R1101C |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,892,359 (GRCm39) |
S191P |
probably damaging |
Het |
| Izumo4 |
T |
C |
10: 80,540,030 (GRCm39) |
|
probably null |
Het |
| Kalrn |
C |
T |
16: 33,875,261 (GRCm39) |
D104N |
possibly damaging |
Het |
| Kank4 |
A |
T |
4: 98,667,873 (GRCm39) |
D191E |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,077,605 (GRCm39) |
E68G |
probably benign |
Het |
| Kdr |
C |
T |
5: 76,119,798 (GRCm39) |
V654I |
probably benign |
Het |
| Klra1 |
A |
T |
6: 130,349,782 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
T |
A |
5: 23,683,970 (GRCm39) |
Y373* |
probably null |
Het |
| Lepr |
A |
T |
4: 101,602,889 (GRCm39) |
M226L |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,348,417 (GRCm39) |
I800F |
probably benign |
Het |
| Lta4h |
T |
C |
10: 93,307,833 (GRCm39) |
|
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,974,814 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,029,338 (GRCm39) |
R371Q |
probably benign |
Het |
| Mgat4f |
A |
G |
1: 134,318,610 (GRCm39) |
I461V |
possibly damaging |
Het |
| Mme |
A |
G |
3: 63,253,487 (GRCm39) |
I444V |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,938,212 (GRCm39) |
R582Q |
possibly damaging |
Het |
| Mtss1 |
A |
G |
15: 58,817,286 (GRCm39) |
S502P |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,467,441 (GRCm39) |
A232S |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
| Or4k15 |
A |
C |
14: 50,364,750 (GRCm39) |
T239P |
probably damaging |
Het |
| Or8b12 |
G |
A |
9: 37,657,550 (GRCm39) |
G40E |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,746,806 (GRCm39) |
S1335N |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,280,825 (GRCm39) |
F486L |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,235,245 (GRCm39) |
K552R |
possibly damaging |
Het |
| Plekhs1 |
T |
A |
19: 56,469,536 (GRCm39) |
|
probably null |
Het |
| Pprc1 |
C |
T |
19: 46,060,007 (GRCm39) |
Q1514* |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,736,576 (GRCm39) |
T1831A |
possibly damaging |
Het |
| Rnpep |
G |
T |
1: 135,193,090 (GRCm39) |
D455E |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,368,771 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
A |
T |
4: 86,397,133 (GRCm39) |
M135K |
possibly damaging |
Het |
| Serpina12 |
T |
C |
12: 104,002,048 (GRCm39) |
T223A |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,880 (GRCm39) |
F218L |
probably damaging |
Het |
| Serpinb9f |
T |
G |
13: 33,509,990 (GRCm39) |
|
probably benign |
Het |
| Spata33 |
A |
G |
8: 123,948,662 (GRCm39) |
D98G |
probably benign |
Het |
| Stard13 |
T |
A |
5: 150,975,942 (GRCm39) |
Y742F |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,288,910 (GRCm39) |
Y552H |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,336,358 (GRCm39) |
|
probably benign |
Het |
| Tmem161a |
A |
G |
8: 70,633,623 (GRCm39) |
T254A |
probably benign |
Het |
| Tmem30a |
G |
T |
9: 79,681,376 (GRCm39) |
Y264* |
probably null |
Het |
| Tmem87a |
A |
T |
2: 120,224,946 (GRCm39) |
I105K |
probably benign |
Het |
| Tnrc6b |
A |
T |
15: 80,742,920 (GRCm39) |
D51V |
probably damaging |
Het |
| Trgc3 |
T |
A |
13: 19,445,262 (GRCm39) |
M70K |
probably damaging |
Het |
| Trpc4 |
T |
C |
3: 54,198,632 (GRCm39) |
F519L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,539,925 (GRCm39) |
T26027A |
probably damaging |
Het |
| Vmn1r198 |
A |
C |
13: 22,539,144 (GRCm39) |
H121P |
probably damaging |
Het |
| Vps33a |
A |
G |
5: 123,709,024 (GRCm39) |
F64L |
probably benign |
Het |
| Zfp1008 |
T |
C |
13: 62,755,201 (GRCm39) |
N39S |
probably damaging |
Het |
| Zfp994 |
A |
T |
17: 22,419,882 (GRCm39) |
C356S |
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 |
|
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 |
|
|
R5694: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'- TCACCCACCCATGTGAACTTGC -3'
(R):5'- CCTCCAACCCATTGAGAGTTTCCTG -3'
Sequencing Primer
(F):5'- GAACTTGCTTCTCTGCAATGG -3'
(R):5'- GTTCAAATGCCCATGTCAGG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation