Incidental Mutation 'R0717:Anxa11'
| ID |
62883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa11
|
| Ensembl Gene |
ENSMUSG00000021866 |
| Gene Name |
annexin A11 |
| Synonyms |
A830099O17Rik, Anx11 |
| MMRRC Submission |
038899-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R0717 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
25842580-25887228 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 25875213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022416]
[ENSMUST00000112364]
|
| AlphaFold |
P97384 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022416
|
| SMART Domains |
Protein: ENSMUSP00000022416
Gene: ENSMUSG00000021866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
175 |
N/A |
INTRINSIC |
|
ANX
|
215 |
267 |
7.18e-25 |
SMART |
|
ANX
|
287 |
339 |
7.57e-24 |
SMART |
|
ANX
|
371 |
423 |
1.35e-20 |
SMART |
|
ANX
|
446 |
498 |
1.89e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112364
|
| SMART Domains |
Protein: ENSMUSP00000107983
Gene: ENSMUSG00000021866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
175 |
N/A |
INTRINSIC |
|
ANX
|
215 |
267 |
7.18e-25 |
SMART |
|
ANX
|
287 |
339 |
7.57e-24 |
SMART |
|
Pfam:Annexin
|
357 |
392 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124704
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184083
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amn1 |
G |
A |
6: 149,084,970 (GRCm39) |
H37Y |
possibly damaging |
Het |
| Arhgap33 |
G |
T |
7: 30,227,774 (GRCm39) |
A475E |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,026,029 (GRCm39) |
N811S |
probably damaging |
Het |
| Cadm1 |
T |
A |
9: 47,721,366 (GRCm39) |
M252K |
probably benign |
Het |
| Cars1 |
T |
C |
7: 143,138,492 (GRCm39) |
R149G |
probably damaging |
Het |
| Ccdc125 |
A |
T |
13: 100,826,866 (GRCm39) |
D241V |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,519,701 (GRCm39) |
P2836S |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,643,259 (GRCm39) |
I1007K |
possibly damaging |
Het |
| Hdhd2 |
G |
A |
18: 77,038,900 (GRCm39) |
A28T |
possibly damaging |
Het |
| Hivep1 |
A |
T |
13: 42,308,422 (GRCm39) |
T221S |
possibly damaging |
Het |
| Lztr1 |
A |
G |
16: 17,333,912 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,406,668 (GRCm39) |
A137V |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,963,356 (GRCm39) |
V1099A |
probably benign |
Het |
| Nox4 |
C |
A |
7: 86,954,098 (GRCm39) |
Y134* |
probably null |
Het |
| Or5k14 |
A |
G |
16: 58,693,133 (GRCm39) |
C127R |
probably damaging |
Het |
| Pde1c |
T |
A |
6: 56,099,997 (GRCm39) |
N681I |
probably damaging |
Het |
| Pon1 |
A |
G |
6: 5,193,674 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
T |
C |
2: 132,223,254 (GRCm39) |
D96G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,723,152 (GRCm39) |
V1280F |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,785,924 (GRCm39) |
D259G |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,655,599 (GRCm39) |
M459K |
probably benign |
Het |
| Tmem201 |
T |
A |
4: 149,803,267 (GRCm39) |
N534Y |
probably damaging |
Het |
| Tspan9 |
A |
T |
6: 127,943,343 (GRCm39) |
|
probably null |
Het |
| Uba7 |
A |
T |
9: 107,854,416 (GRCm39) |
T252S |
probably benign |
Het |
| Ube2e2 |
T |
C |
14: 18,888,435 (GRCm38) |
T3A |
probably benign |
Het |
|
| Other mutations in Anxa11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02194:Anxa11
|
APN |
14 |
25,870,553 (GRCm39) |
missense |
unknown |
|
|
twirl
|
UTSW |
14 |
25,873,158 (GRCm39) |
missense |
unknown |
|
|
R0597:Anxa11
|
UTSW |
14 |
25,874,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0656:Anxa11
|
UTSW |
14 |
25,874,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1087:Anxa11
|
UTSW |
14 |
25,870,603 (GRCm39) |
missense |
unknown |
|
|
R2207:Anxa11
|
UTSW |
14 |
25,874,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Anxa11
|
UTSW |
14 |
25,875,188 (GRCm39) |
nonsense |
probably null |
|
|
R6298:Anxa11
|
UTSW |
14 |
25,873,158 (GRCm39) |
missense |
unknown |
|
|
R6416:Anxa11
|
UTSW |
14 |
25,874,694 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6944:Anxa11
|
UTSW |
14 |
25,875,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7389:Anxa11
|
UTSW |
14 |
25,873,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7760:Anxa11
|
UTSW |
14 |
25,873,251 (GRCm39) |
nonsense |
probably null |
|
|
R8881:Anxa11
|
UTSW |
14 |
25,874,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0005:Anxa11
|
UTSW |
14 |
25,874,714 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Anxa11
|
UTSW |
14 |
25,870,600 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATCCTCCTATCCTTCAAGACGGC -3'
(R):5'- AACTACCAGTTGCTCCTTCTAACGC -3'
Sequencing Primer
(F):5'- ACACGAGTACTGCCTGTGTTAG -3'
(R):5'- AACTGGTCAGTGGGTAACAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation