Incidental Mutation 'R1005:Anxa6'
| ID |
95654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa6
|
| Ensembl Gene |
ENSMUSG00000018340 |
| Gene Name |
annexin A6 |
| Synonyms |
Anx6, Camb, Cabm, Annexin VI, AnxVI |
| MMRRC Submission |
039115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1005 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54869934-54924271 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 54892044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 304
(M304K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104511
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102727]
[ENSMUST00000108883]
|
| AlphaFold |
P14824 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102727
AA Change: M304K
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099788
Gene: ENSMUSG00000018340
AA Change: M304K
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
37 |
89 |
4.03e-19 |
SMART |
|
ANX
|
109 |
161 |
2.09e-26 |
SMART |
|
ANX
|
193 |
245 |
1.55e-20 |
SMART |
|
ANX
|
268 |
320 |
2.23e-21 |
SMART |
|
ANX
|
380 |
432 |
9.47e-25 |
SMART |
|
ANX
|
452 |
504 |
1.12e-26 |
SMART |
|
ANX
|
535 |
587 |
7.77e-12 |
SMART |
|
ANX
|
610 |
662 |
4.73e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108883
AA Change: M304K
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104511
Gene: ENSMUSG00000018340
AA Change: M304K
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
37 |
89 |
4.03e-19 |
SMART |
|
ANX
|
109 |
161 |
2.09e-26 |
SMART |
|
ANX
|
193 |
245 |
1.55e-20 |
SMART |
|
ANX
|
268 |
320 |
2.23e-21 |
SMART |
|
ANX
|
380 |
432 |
9.47e-25 |
SMART |
|
ANX
|
452 |
504 |
1.12e-26 |
SMART |
|
low complexity region
|
517 |
528 |
N/A |
INTRINSIC |
|
ANX
|
541 |
593 |
7.77e-12 |
SMART |
|
ANX
|
616 |
668 |
4.73e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148298
|
| Meta Mutation Damage Score |
0.4490 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.5%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele have normal immunological development but exhibit altered cardiomyocyte mechanics and intracellular calcium signaling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,155,530 (GRCm39) |
D163G |
probably benign |
Het |
| Adck1 |
G |
A |
12: 88,368,872 (GRCm39) |
V117M |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,104,511 (GRCm39) |
T563A |
probably benign |
Het |
| AW551984 |
G |
A |
9: 39,505,029 (GRCm39) |
Q488* |
probably null |
Het |
| Cbx2 |
A |
G |
11: 118,919,400 (GRCm39) |
R322G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,338,707 (GRCm39) |
T467S |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,796,020 (GRCm39) |
I1252V |
probably benign |
Het |
| Enah |
A |
T |
1: 181,789,495 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,331,007 (GRCm39) |
M185V |
probably benign |
Het |
| Flt1 |
G |
T |
5: 147,618,695 (GRCm39) |
N213K |
probably damaging |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,346 (GRCm39) |
N265S |
probably benign |
Het |
| Gbp2 |
T |
C |
3: 142,336,262 (GRCm39) |
|
probably benign |
Het |
| Gm6871 |
A |
T |
7: 41,195,682 (GRCm39) |
C352S |
probably damaging |
Het |
| Gm9742 |
T |
C |
13: 8,085,251 (GRCm39) |
|
noncoding transcript |
Het |
| Iars1 |
T |
C |
13: 49,840,921 (GRCm39) |
I18T |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,665,551 (GRCm39) |
Y523C |
probably damaging |
Het |
| Klk1b8 |
T |
A |
7: 43,603,758 (GRCm39) |
C198* |
probably null |
Het |
| Mc3r |
A |
G |
2: 172,091,483 (GRCm39) |
H235R |
probably benign |
Het |
| Nr0b2 |
G |
T |
4: 133,280,785 (GRCm39) |
R17L |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,962 (GRCm39) |
F27L |
probably benign |
Het |
| Prl7a1 |
G |
A |
13: 27,826,429 (GRCm39) |
P2L |
possibly damaging |
Het |
| Prrt3 |
G |
A |
6: 113,471,739 (GRCm39) |
A811V |
probably damaging |
Het |
| Rab28 |
A |
G |
5: 41,855,726 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
A |
G |
14: 70,035,726 (GRCm39) |
L115P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,319,547 (GRCm39) |
E599G |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,004,501 (GRCm39) |
|
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,904,116 (GRCm39) |
L7Q |
probably damaging |
Het |
| Slfn5 |
T |
A |
11: 82,850,984 (GRCm39) |
L427H |
probably damaging |
Het |
| Smarcad1 |
C |
T |
6: 65,085,711 (GRCm39) |
H890Y |
probably benign |
Het |
| Snx31 |
A |
G |
15: 36,517,837 (GRCm39) |
|
probably benign |
Het |
| Sptb |
C |
T |
12: 76,648,633 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,622 (GRCm39) |
D262G |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,162,789 (GRCm39) |
M16R |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,742,537 (GRCm39) |
E1385G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,903,403 (GRCm39) |
S47P |
probably benign |
Het |
|
| Other mutations in Anxa6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Anxa6
|
APN |
11 |
54,883,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Anxa6
|
APN |
11 |
54,885,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Anxa6
|
UTSW |
11 |
54,872,588 (GRCm39) |
splice site |
probably null |
|
|
R0374:Anxa6
|
UTSW |
11 |
54,896,654 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0599:Anxa6
|
UTSW |
11 |
54,870,292 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0659:Anxa6
|
UTSW |
11 |
54,874,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0924:Anxa6
|
UTSW |
11 |
54,885,214 (GRCm39) |
splice site |
probably null |
|
|
R0930:Anxa6
|
UTSW |
11 |
54,885,214 (GRCm39) |
splice site |
probably null |
|
|
R1435:Anxa6
|
UTSW |
11 |
54,882,236 (GRCm39) |
missense |
probably benign |
|
|
R2314:Anxa6
|
UTSW |
11 |
54,902,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2850:Anxa6
|
UTSW |
11 |
54,901,852 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4596:Anxa6
|
UTSW |
11 |
54,885,409 (GRCm39) |
splice site |
probably null |
|
|
R5057:Anxa6
|
UTSW |
11 |
54,892,062 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5685:Anxa6
|
UTSW |
11 |
54,887,196 (GRCm39) |
missense |
probably benign |
|
|
R5968:Anxa6
|
UTSW |
11 |
54,885,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6145:Anxa6
|
UTSW |
11 |
54,885,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6268:Anxa6
|
UTSW |
11 |
54,877,903 (GRCm39) |
splice site |
probably null |
|
|
R6818:Anxa6
|
UTSW |
11 |
54,870,326 (GRCm39) |
missense |
probably benign |
|
|
R6864:Anxa6
|
UTSW |
11 |
54,877,011 (GRCm39) |
missense |
probably benign |
|
|
R7224:Anxa6
|
UTSW |
11 |
54,876,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Anxa6
|
UTSW |
11 |
54,875,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7740:Anxa6
|
UTSW |
11 |
54,898,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Anxa6
|
UTSW |
11 |
54,894,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8507:Anxa6
|
UTSW |
11 |
54,904,696 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8676:Anxa6
|
UTSW |
11 |
54,892,108 (GRCm39) |
nonsense |
probably null |
|
|
R8818:Anxa6
|
UTSW |
11 |
54,902,578 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9226:Anxa6
|
UTSW |
11 |
54,885,791 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9227:Anxa6
|
UTSW |
11 |
54,898,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9757:Anxa6
|
UTSW |
11 |
54,885,182 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCCCAAGACAGCATTCTCTGTG -3'
(R):5'- TCAAAGTGAAGGCCACCATCTGC -3'
Sequencing Primer
(F):5'- tctatctatctatccatccctccatc -3'
(R):5'- TGCTAGTGTCTCTTGTCCACG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation