Incidental Mutation 'IGL02194:Anxa11'
ID |
284004 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Anxa11
|
Ensembl Gene |
ENSMUSG00000021866 |
Gene Name |
annexin A11 |
Synonyms |
A830099O17Rik, Anx11 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
IGL02194
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
25842580-25887228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25870553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 39
(D39G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022416]
[ENSMUST00000112364]
|
AlphaFold |
P97384 |
Predicted Effect |
unknown
Transcript: ENSMUST00000022416
AA Change: D39G
|
SMART Domains |
Protein: ENSMUSP00000022416 Gene: ENSMUSG00000021866 AA Change: D39G
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 |
unknown
Transcript: ENSMUST00000112364
AA Change: D39G
|
SMART Domains |
Protein: ENSMUSP00000107983 Gene: ENSMUSG00000021866 AA Change: D39G
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 |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
Other mutations in Anxa11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R0717:Anxa11
|
UTSW |
14 |
25,875,213 (GRCm39) |
splice site |
probably null |
|
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 |
|
|
Posted On |
2015-04-16 |