Incidental Mutation 'R6654:Armc6'
| ID |
526557 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armc6
|
| Ensembl Gene |
ENSMUSG00000002343 |
| Gene Name |
armadillo repeat containing 6 |
| Synonyms |
2410153K17Rik |
| MMRRC Submission |
044775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R6654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70672822-70687099 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70684025 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 9
(E9G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019679]
[ENSMUST00000093458]
[ENSMUST00000130319]
[ENSMUST00000131489]
[ENSMUST00000145078]
[ENSMUST00000164403]
|
| AlphaFold |
Q8BNU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019679
AA Change: E9G
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000019679
Gene: ENSMUSG00000002343
AA Change: E9G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UTG
|
14 |
77 |
2e-26 |
BLAST |
|
ARM
|
140 |
182 |
8.74e1 |
SMART |
|
ARM
|
184 |
226 |
3.64e-7 |
SMART |
|
ARM
|
237 |
280 |
6.01e0 |
SMART |
|
ARM
|
281 |
323 |
1.13e-3 |
SMART |
|
ARM
|
324 |
366 |
8.3e-2 |
SMART |
|
ARM
|
368 |
410 |
1.06e1 |
SMART |
|
Blast:ARM
|
438 |
468 |
3e-9 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093458
|
| SMART Domains |
Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130319
AA Change: E9G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116811
Gene: ENSMUSG00000002343
AA Change: E9G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UTG
|
14 |
78 |
8e-30 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131489
|
| SMART Domains |
Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135931
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145078
|
| SMART Domains |
Protein: ENSMUSP00000114403
Gene: ENSMUSG00000036054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164403
|
| SMART Domains |
Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ddc |
A |
T |
11: 11,830,452 (GRCm39) |
I64N |
probably damaging |
Het |
| Exd1 |
T |
A |
2: 119,355,198 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
C |
A |
1: 166,457,956 (GRCm39) |
G466C |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,785,427 (GRCm39) |
D316G |
possibly damaging |
Het |
| Gsta4 |
T |
C |
9: 78,116,381 (GRCm39) |
F197L |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,056,486 (GRCm39) |
Y649H |
probably damaging |
Het |
| Kif16b |
T |
C |
2: 142,543,197 (GRCm39) |
|
probably benign |
Het |
| Krtap12-1 |
T |
C |
10: 77,556,537 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,927,457 (GRCm39) |
S537N |
probably damaging |
Het |
| Med12l |
G |
T |
3: 59,169,713 (GRCm39) |
G1626W |
probably damaging |
Het |
| Mfng |
T |
A |
15: 78,643,539 (GRCm39) |
T223S |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,550 (GRCm39) |
T321A |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,123,322 (GRCm39) |
I672V |
possibly damaging |
Het |
| Nbas |
C |
T |
12: 13,533,875 (GRCm39) |
Q1837* |
probably null |
Het |
| Nlrc4 |
G |
A |
17: 74,752,523 (GRCm39) |
A620V |
possibly damaging |
Het |
| Nubpl |
T |
A |
12: 52,357,516 (GRCm39) |
V310E |
probably damaging |
Het |
| Or4p21 |
T |
G |
2: 88,277,016 (GRCm39) |
T89P |
possibly damaging |
Het |
| Or5aq6 |
A |
G |
2: 86,923,394 (GRCm39) |
S116P |
probably benign |
Het |
| P2ry12 |
A |
G |
3: 59,125,441 (GRCm39) |
L78P |
probably damaging |
Het |
| Pira1 |
A |
T |
7: 3,738,928 (GRCm39) |
S560T |
probably benign |
Het |
| Pkd1l3 |
T |
G |
8: 110,350,915 (GRCm39) |
S587A |
probably benign |
Het |
| Potefam1 |
T |
A |
2: 111,002,229 (GRCm39) |
M154L |
unknown |
Het |
| Prkacb |
A |
G |
3: 146,456,298 (GRCm39) |
V145A |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,946,833 (GRCm39) |
E1256G |
probably benign |
Het |
| Rsph4a |
A |
G |
10: 33,788,988 (GRCm39) |
Q611R |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,891,941 (GRCm39) |
D1903G |
possibly damaging |
Het |
| Tmem39b |
A |
T |
4: 129,580,619 (GRCm39) |
V291D |
probably damaging |
Het |
| Unc79 |
A |
C |
12: 103,045,307 (GRCm39) |
K685Q |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,045,308 (GRCm39) |
K685I |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r112 |
G |
T |
17: 22,822,450 (GRCm39) |
S376I |
possibly damaging |
Het |
| Zfp850 |
A |
T |
7: 27,684,640 (GRCm39) |
C35* |
probably null |
Het |
| Zfp974 |
A |
G |
7: 27,625,828 (GRCm39) |
V14A |
probably damaging |
Het |
|
| Other mutations in Armc6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02251:Armc6
|
APN |
8 |
70,677,870 (GRCm39) |
nonsense |
probably null |
|
|
IGL03090:Armc6
|
APN |
8 |
70,684,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1449:Armc6
|
UTSW |
8 |
70,677,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1557:Armc6
|
UTSW |
8 |
70,678,098 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1689:Armc6
|
UTSW |
8 |
70,682,187 (GRCm39) |
missense |
probably benign |
|
|
R3054:Armc6
|
UTSW |
8 |
70,677,799 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4368:Armc6
|
UTSW |
8 |
70,677,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7726:Armc6
|
UTSW |
8 |
70,675,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Armc6
|
UTSW |
8 |
70,673,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Armc6
|
UTSW |
8 |
70,675,192 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCACGTCACTACTGTG -3'
(R):5'- AGTGCCCTAAGTGCCCATTTC -3'
Sequencing Primer
(F):5'- ACAGCACGTCACTACTGTGTTAGG -3'
(R):5'- TGGTAGCAAGGCTTTACCCACAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation