Incidental Mutation 'R5735:Armc8'
| ID |
451659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
043349-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R5735 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 99379447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
[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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
C |
A |
13: 70,984,337 (GRCm39) |
D109Y |
possibly damaging |
Het |
| Atg4b |
G |
T |
1: 93,701,519 (GRCm39) |
G71V |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,042,601 (GRCm39) |
M54L |
probably benign |
Het |
| Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
| Bnc2 |
A |
C |
4: 84,210,908 (GRCm39) |
L487R |
probably damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,539 (GRCm39) |
S141P |
probably benign |
Het |
| Carmil2 |
G |
A |
8: 106,424,663 (GRCm39) |
G1361D |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,560 (GRCm39) |
I1907V |
probably benign |
Het |
| Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
| Cfap73 |
T |
A |
5: 120,770,671 (GRCm39) |
Q33L |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,837,856 (GRCm39) |
|
probably null |
Het |
| Cmtm2a |
A |
T |
8: 105,019,418 (GRCm39) |
I57N |
probably damaging |
Het |
| Col6a2 |
T |
A |
10: 76,435,727 (GRCm39) |
D836V |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,321,643 (GRCm39) |
V3839A |
possibly damaging |
Het |
| Enpp1 |
A |
T |
10: 24,530,817 (GRCm39) |
F546L |
possibly damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,940,290 (GRCm39) |
T507A |
probably damaging |
Het |
| Erg28 |
C |
T |
12: 85,862,926 (GRCm39) |
E129K |
probably benign |
Het |
| Erlec1 |
A |
T |
11: 30,900,591 (GRCm39) |
N153K |
probably benign |
Het |
| Fam234a |
T |
C |
17: 26,432,679 (GRCm39) |
E490G |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,003,725 (GRCm39) |
R1815C |
probably damaging |
Het |
| Galnt1 |
T |
G |
18: 24,397,577 (GRCm39) |
I226S |
possibly damaging |
Het |
| Ifnl2 |
T |
A |
7: 28,209,614 (GRCm39) |
I58F |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,245,572 (GRCm39) |
N554D |
probably benign |
Het |
| Kcna10 |
A |
G |
3: 107,102,394 (GRCm39) |
I342V |
probably benign |
Het |
| Kif6 |
G |
A |
17: 50,139,210 (GRCm39) |
E561K |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lpar2 |
G |
T |
8: 70,276,385 (GRCm39) |
R58L |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 140,260,809 (GRCm39) |
T27A |
possibly damaging |
Het |
| Mfsd2a |
A |
T |
4: 122,843,120 (GRCm39) |
V387D |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,050,262 (GRCm39) |
T231S |
probably benign |
Het |
| Or4a70 |
A |
T |
2: 89,323,812 (GRCm39) |
N281K |
probably damaging |
Het |
| Or52n5 |
A |
T |
7: 104,587,966 (GRCm39) |
T78S |
probably benign |
Het |
| Or5aq1b |
A |
T |
2: 86,901,756 (GRCm39) |
C241S |
probably damaging |
Het |
| Or8h10 |
A |
G |
2: 86,809,044 (GRCm39) |
V32A |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,160,024 (GRCm39) |
I432F |
probably damaging |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Pomt1 |
G |
A |
2: 32,133,517 (GRCm39) |
G218R |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,055,837 (GRCm39) |
L183* |
probably null |
Het |
| Pramel22 |
A |
T |
4: 143,381,205 (GRCm39) |
C273S |
probably damaging |
Het |
| Prdm5 |
C |
T |
6: 65,904,974 (GRCm39) |
T157I |
possibly damaging |
Het |
| Psen2 |
T |
A |
1: 180,068,491 (GRCm39) |
E54V |
probably benign |
Het |
| Ptpn13 |
C |
A |
5: 103,702,686 (GRCm39) |
H1217Q |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,376,484 (GRCm39) |
S1306P |
probably damaging |
Het |
| Ptpru |
G |
T |
4: 131,565,401 (GRCm39) |
P23T |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,434,057 (GRCm39) |
E626G |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,312,622 (GRCm39) |
M1191K |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,314,803 (GRCm39) |
N1086I |
probably benign |
Het |
| Sgms2 |
A |
T |
3: 131,129,866 (GRCm39) |
M174K |
probably damaging |
Het |
| Skor1 |
T |
A |
9: 63,053,346 (GRCm39) |
I180F |
probably damaging |
Het |
| Slit2 |
T |
G |
5: 48,416,958 (GRCm39) |
C1003W |
probably damaging |
Het |
| Tbc1d2b |
T |
A |
9: 90,104,462 (GRCm39) |
Q560L |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,598,530 (GRCm39) |
I51V |
probably benign |
Het |
| Tmem203 |
T |
C |
2: 25,146,085 (GRCm39) |
V135A |
probably benign |
Het |
| Tns1 |
T |
C |
1: 73,967,138 (GRCm39) |
T1212A |
probably benign |
Het |
| Trgv5 |
T |
G |
13: 19,376,695 (GRCm39) |
H47Q |
probably benign |
Het |
| Trim2 |
G |
A |
3: 84,075,029 (GRCm39) |
A697V |
probably damaging |
Het |
| Ubxn4 |
T |
C |
1: 128,186,677 (GRCm39) |
S37P |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,600,716 (GRCm39) |
I671M |
possibly damaging |
Het |
| Vmn2r94 |
G |
T |
17: 18,464,066 (GRCm39) |
S741R |
probably damaging |
Het |
| Vwce |
C |
A |
19: 10,624,431 (GRCm39) |
D414E |
probably benign |
Het |
| Zfp397 |
T |
C |
18: 24,093,249 (GRCm39) |
S245P |
possibly damaging |
Het |
| Zfp747l1 |
G |
T |
7: 126,984,579 (GRCm39) |
H174Q |
possibly damaging |
Het |
| Zfp809 |
T |
A |
9: 22,150,227 (GRCm39) |
Y241* |
probably null |
Het |
| Zfp995 |
C |
T |
17: 22,101,010 (GRCm39) |
C29Y |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,400,161 (GRCm39) |
E209G |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,320,147 (GRCm39) |
D1066G |
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 |
|
|
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 |
|
|
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'- TGCCAAGCACTGCATTGAG -3'
(R):5'- TGTTCAAATGCCCATGTCAGG -3'
Sequencing Primer
(F):5'- CACTGCATTGAGCTCAGATGGAATC -3'
(R):5'- CCCATGTCAGGAAGTGGTTATATTCC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation