Incidental Mutation 'R0660:Armcx2'
| ID |
61821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Armcx2
|
| Ensembl Gene |
ENSMUSG00000033436 |
| Gene Name |
armadillo repeat containing, X-linked 2 |
| Synonyms |
3230401N03Rik |
| MMRRC Submission |
038845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R0660 (G1)
|
| Quality Score |
96 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
133704894-133709970 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 133706385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 416
(T416I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035559]
[ENSMUST00000113193]
[ENSMUST00000119010]
[ENSMUST00000168264]
|
| AlphaFold |
Q6A058 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035559
AA Change: T416I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049147
Gene: ENSMUSG00000033436
AA Change: T416I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
143 |
179 |
7.15e-5 |
PROSPERO |
|
internal_repeat_1
|
176 |
196 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
234 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
296 |
316 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
324 |
354 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
360 |
395 |
7.15e-5 |
PROSPERO |
|
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
507 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
527 |
778 |
4.8e-108 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113193
AA Change: T416I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108818
Gene: ENSMUSG00000033436
AA Change: T416I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
143 |
179 |
7.15e-5 |
PROSPERO |
|
internal_repeat_1
|
176 |
196 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
234 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
296 |
316 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
324 |
354 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
360 |
395 |
7.15e-5 |
PROSPERO |
|
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
507 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
527 |
778 |
4.8e-108 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119010
AA Change: T416I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112507
Gene: ENSMUSG00000033436
AA Change: T416I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
143 |
179 |
7.15e-5 |
PROSPERO |
|
internal_repeat_1
|
176 |
196 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
234 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
296 |
316 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
324 |
354 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
360 |
395 |
7.15e-5 |
PROSPERO |
|
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
507 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
527 |
778 |
7.9e-109 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141322
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150814
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168264
AA Change: T416I
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127305
Gene: ENSMUSG00000033436
AA Change: T416I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
143 |
179 |
7.15e-5 |
PROSPERO |
|
internal_repeat_1
|
176 |
196 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
234 |
249 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
294 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
296 |
316 |
1.38e-5 |
PROSPERO |
|
low complexity region
|
324 |
354 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
360 |
395 |
7.15e-5 |
PROSPERO |
|
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
507 |
N/A |
INTRINSIC |
|
Pfam:Arm_2
|
527 |
778 |
4.8e-108 |
PFAM |
|
| Meta Mutation Damage Score |
0.0796 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
T |
C |
17: 48,473,759 (GRCm39) |
I53V |
probably benign |
Het |
| Abtb3 |
G |
A |
10: 85,224,234 (GRCm39) |
A348T |
possibly damaging |
Het |
| Actr3 |
T |
A |
1: 125,336,304 (GRCm39) |
I129L |
probably benign |
Het |
| Aspm |
T |
A |
1: 139,385,502 (GRCm39) |
M382K |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,544,458 (GRCm39) |
S1243P |
probably damaging |
Het |
| Cenpp |
C |
T |
13: 49,618,173 (GRCm39) |
R244Q |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,198,621 (GRCm39) |
S1444P |
probably damaging |
Het |
| Fmo4 |
T |
C |
1: 162,637,417 (GRCm39) |
N25S |
probably benign |
Het |
| Ipo8 |
A |
T |
6: 148,701,711 (GRCm39) |
L466I |
probably benign |
Het |
| Or5p6 |
T |
C |
7: 107,630,822 (GRCm39) |
T243A |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,572,269 (GRCm39) |
|
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,024,182 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sars1 |
G |
A |
3: 108,338,789 (GRCm39) |
L247F |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,467 (GRCm39) |
I515V |
probably benign |
Het |
| Tanc1 |
A |
T |
2: 59,674,228 (GRCm39) |
K1778* |
probably null |
Het |
| Zkscan3 |
A |
T |
13: 21,572,630 (GRCm39) |
I167N |
probably damaging |
Het |
|
| Other mutations in Armcx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02382:Armcx2
|
APN |
X |
133,706,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0662:Armcx2
|
UTSW |
X |
133,706,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3870:Armcx2
|
UTSW |
X |
133,707,048 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGTGTCAGTCCACCCAGATTC -3'
(R):5'- TACCTGGCAGAACAGTCCAGTCTC -3'
Sequencing Primer
(F):5'- CCGGAATCTCTGCTAGGAAG -3'
(R):5'- CAGTACAGTATTCTGGGGCAGC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation