Incidental Mutation 'R7393:Armc8'
| ID |
573606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc8
|
| Ensembl Gene |
ENSMUSG00000032468 |
| Gene Name |
armadillo repeat containing 8 |
| Synonyms |
1200015K23Rik, Gid5, HSPC056 |
| MMRRC Submission |
045475-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.683)
|
| Stock # |
R7393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99360425-99450952 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99366052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 621
(C621S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035043]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035043
AA Change: C621S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035043
Gene: ENSMUSG00000032468
AA Change: C621S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Abi2 |
T |
C |
1: 60,473,541 (GRCm39) |
M86T |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,725 (GRCm39) |
N255S |
probably benign |
Het |
| Adam4 |
G |
A |
12: 81,466,434 (GRCm39) |
S729L |
probably benign |
Het |
| Adcy1 |
G |
T |
11: 7,087,381 (GRCm39) |
W418C |
probably damaging |
Het |
| Add2 |
T |
A |
6: 86,075,629 (GRCm39) |
Y259* |
probably null |
Het |
| Agl |
A |
T |
3: 116,584,805 (GRCm39) |
C172S |
probably benign |
Het |
| Ankfy1 |
A |
G |
11: 72,629,134 (GRCm39) |
T319A |
possibly damaging |
Het |
| Atp5mj |
A |
G |
12: 111,929,711 (GRCm39) |
V26A |
probably benign |
Het |
| Bbc3 |
A |
G |
7: 16,047,714 (GRCm39) |
D146G |
probably benign |
Het |
| Btnl10 |
T |
C |
11: 58,814,532 (GRCm39) |
L404P |
probably damaging |
Het |
| Cbl |
A |
G |
9: 44,065,485 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
T |
A |
10: 4,464,314 (GRCm39) |
|
probably null |
Het |
| Ccdc91 |
T |
A |
6: 147,435,527 (GRCm39) |
V37E |
possibly damaging |
Het |
| Ces1e |
G |
T |
8: 93,937,045 (GRCm39) |
T343K |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,300,224 (GRCm39) |
F323I |
probably damaging |
Het |
| Clcnkb |
T |
A |
4: 141,136,756 (GRCm39) |
M370L |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,890,755 (GRCm39) |
D364G |
unknown |
Het |
| Ctbp2 |
A |
G |
7: 132,590,021 (GRCm39) |
I381T |
probably benign |
Het |
| Cyp4a29 |
A |
C |
4: 115,099,393 (GRCm39) |
Y38S |
probably damaging |
Het |
| Ddx1 |
T |
C |
12: 13,280,354 (GRCm39) |
D382G |
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
| Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,435,598 (GRCm39) |
D262G |
probably benign |
Het |
| Fnbp4 |
C |
A |
2: 90,609,660 (GRCm39) |
Q1035K |
probably damaging |
Het |
| Gbp11 |
T |
A |
5: 105,475,443 (GRCm39) |
N302Y |
possibly damaging |
Het |
| Gm11554 |
T |
A |
11: 99,694,698 (GRCm39) |
T172S |
unknown |
Het |
| Hamp2 |
A |
T |
7: 30,622,030 (GRCm39) |
M53K |
possibly damaging |
Het |
| Kcnj1 |
A |
G |
9: 32,308,314 (GRCm39) |
D246G |
probably damaging |
Het |
| Kctd20 |
T |
C |
17: 29,182,312 (GRCm39) |
F209L |
probably damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,165 (GRCm39) |
Y148C |
probably damaging |
Het |
| Krtap15-1 |
T |
C |
16: 88,625,985 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
T |
C |
11: 88,095,284 (GRCm39) |
L6P |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo7a |
G |
A |
7: 97,712,906 (GRCm39) |
R1690C |
possibly damaging |
Het |
| Nbas |
T |
C |
12: 13,443,493 (GRCm39) |
S1183P |
probably damaging |
Het |
| Ndufaf4 |
T |
A |
4: 24,903,177 (GRCm39) |
M122K |
probably benign |
Het |
| Nop2 |
C |
A |
6: 125,110,509 (GRCm39) |
S45* |
probably null |
Het |
| Nop56 |
T |
A |
2: 130,116,558 (GRCm39) |
L3Q |
probably benign |
Het |
| Nrp2 |
T |
C |
1: 62,784,583 (GRCm39) |
I244T |
probably damaging |
Het |
| Or4d10c |
T |
A |
19: 12,065,992 (GRCm39) |
T55S |
probably benign |
Het |
| Or51v14 |
A |
G |
7: 103,261,198 (GRCm39) |
S121P |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,527,614 (GRCm39) |
D1941G |
probably benign |
Het |
| Pcyox1l |
T |
C |
18: 61,830,712 (GRCm39) |
K387E |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,306,564 (GRCm39) |
Y306C |
possibly damaging |
Het |
| Ppp1r13b |
G |
A |
12: 111,805,188 (GRCm39) |
P333S |
probably damaging |
Het |
| Rcc2 |
A |
G |
4: 140,444,341 (GRCm39) |
D344G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,181,349 (GRCm39) |
N1810K |
probably damaging |
Het |
| Rfesd |
G |
T |
13: 76,151,149 (GRCm39) |
A90E |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Scg2 |
T |
C |
1: 79,412,948 (GRCm39) |
K552E |
probably damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,667,872 (GRCm39) |
I190V |
probably benign |
Het |
| Sele |
C |
A |
1: 163,881,492 (GRCm39) |
T533K |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,072,170 (GRCm39) |
H339Q |
possibly damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,841,093 (GRCm39) |
S106P |
probably benign |
Het |
| Spidr |
C |
T |
16: 15,964,695 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
A |
T |
1: 74,650,352 (GRCm39) |
K295* |
probably null |
Het |
| Synj1 |
A |
T |
16: 90,748,887 (GRCm39) |
D1056E |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,893,210 (GRCm39) |
S1046P |
probably benign |
Het |
| Ttc27 |
T |
G |
17: 75,077,259 (GRCm39) |
F385V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,774,689 (GRCm39) |
G2164W |
unknown |
Het |
| Ubap1 |
T |
A |
4: 41,379,764 (GRCm39) |
L326* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,154,096 (GRCm39) |
N812S |
probably damaging |
Het |
| Vmn1r160 |
A |
G |
7: 22,570,778 (GRCm39) |
T44A |
possibly damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,574 (GRCm39) |
S139N |
possibly damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,099 (GRCm39) |
I137M |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,805,086 (GRCm39) |
W9R |
probably null |
Het |
| Zfp101 |
T |
C |
17: 33,605,674 (GRCm39) |
N45D |
possibly 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 |
|
|
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 |
|
|
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'- AGACAGACTGATTCTCACAGC -3'
(R):5'- CGATTGCTGTTACCCTGACC -3'
Sequencing Primer
(F):5'- CTGATTCTCACAGCAAGATAGCTCTG -3'
(R):5'- AATGTTAAACTTTATAGCTCCTCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation