Incidental Mutation 'R6079:Anxa10'
| ID |
482858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa10
|
| Ensembl Gene |
ENSMUSG00000031635 |
| Gene Name |
annexin A10 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6079 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
62510076-62576184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 62530960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 83
(M83I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034052]
[ENSMUST00000034054]
|
| AlphaFold |
Q9QZ10 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034052
AA Change: M83I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034052
Gene: ENSMUSG00000031635
AA Change: M83I
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
34 |
86 |
6.71e-16 |
SMART |
|
ANX
|
106 |
158 |
8.13e-15 |
SMART |
|
ANX
|
198 |
241 |
5.48e-2 |
SMART |
|
ANX
|
264 |
316 |
6.51e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034054
AA Change: M83I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000034054
Gene: ENSMUSG00000031635
AA Change: M83I
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
34 |
86 |
6.71e-16 |
SMART |
|
ANX
|
106 |
161 |
2.38e-1 |
SMART |
|
ANX
|
178 |
221 |
5.48e-2 |
SMART |
|
ANX
|
244 |
296 |
6.51e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210799
|
| Meta Mutation Damage Score |
0.0786 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| 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. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Litter sizes from crosses of females that are either homozygous or heterozygous for a null allele contain fewer pups than wild-type females, indicating a dominant maternal effect on embryonic lethality. Embryos of homozygous null females die between E4.5 and E12.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
| Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
| Atp2b4 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
1: 133,629,440 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,220,576 (GRCm39) |
F485S |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
| Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,531,580 (GRCm39) |
F11I |
probably benign |
Het |
| Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
| Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
| Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
| Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,506,896 (GRCm39) |
D83G |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,955,255 (GRCm39) |
C603R |
possibly damaging |
Het |
| Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
| Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
|
| Other mutations in Anxa10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01977:Anxa10
|
APN |
8 |
62,529,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Anxa10
|
APN |
8 |
62,549,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0687:Anxa10
|
UTSW |
8 |
62,545,606 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0826:Anxa10
|
UTSW |
8 |
62,529,318 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Anxa10
|
UTSW |
8 |
62,531,001 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0945:Anxa10
|
UTSW |
8 |
62,513,279 (GRCm39) |
splice site |
probably benign |
|
|
R1124:Anxa10
|
UTSW |
8 |
62,514,038 (GRCm39) |
splice site |
probably null |
|
|
R1647:Anxa10
|
UTSW |
8 |
62,545,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2877:Anxa10
|
UTSW |
8 |
62,513,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Anxa10
|
UTSW |
8 |
62,517,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Anxa10
|
UTSW |
8 |
62,516,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5109:Anxa10
|
UTSW |
8 |
62,516,093 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5554:Anxa10
|
UTSW |
8 |
62,514,080 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5971:Anxa10
|
UTSW |
8 |
62,530,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6134:Anxa10
|
UTSW |
8 |
62,530,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Anxa10
|
UTSW |
8 |
62,514,051 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6901:Anxa10
|
UTSW |
8 |
62,549,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7428:Anxa10
|
UTSW |
8 |
62,545,543 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8683:Anxa10
|
UTSW |
8 |
62,510,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Anxa10
|
UTSW |
8 |
62,527,580 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9276:Anxa10
|
UTSW |
8 |
62,549,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Anxa10
|
UTSW |
8 |
62,545,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Anxa10
|
UTSW |
8 |
62,545,540 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Anxa10
|
UTSW |
8 |
62,516,104 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTGCAGGACCATCACAGGG -3'
(R):5'- CTCAAATCCATTGTCTAGTGTTACC -3'
Sequencing Primer
(F):5'- ACCATCACAGGGAAGTCTATCCTTTG -3'
(R):5'- GAGTGAGTCAAAACCAGACTTATTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation