Incidental Mutation 'R3706:Anxa10'
| ID |
271773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa10
|
| Ensembl Gene |
ENSMUSG00000031635 |
| Gene Name |
annexin A10 |
| Synonyms |
|
| MMRRC Submission |
040699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R3706 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
62510076-62576184 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62517321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 167
(K167M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034052]
[ENSMUST00000034054]
|
| AlphaFold |
Q9QZ10 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034052
AA Change: K187M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034052
Gene: ENSMUSG00000031635
AA Change: K187M
| 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 damaging
Transcript: ENSMUST00000034054
AA Change: K167M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034054
Gene: ENSMUSG00000031635
AA Change: K167M
| 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 |
0.3623 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
| Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,663,843 (GRCm39) |
Y461* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
| Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
| Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
C |
A |
9: 77,887,119 (GRCm39) |
A170E |
probably null |
Het |
| Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
| Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,578,008 (GRCm39) |
I138N |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Immt |
T |
C |
6: 71,839,346 (GRCm39) |
M226T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
| Mettl2 |
T |
A |
11: 105,030,552 (GRCm39) |
I376N |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,476 (GRCm39) |
L2Q |
probably benign |
Het |
| Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
| Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
| Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,290 (GRCm39) |
I458V |
probably 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 |
|
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 |
|
R6079: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'- GCAGAGCTTTATTCTGTTGCAG -3'
(R):5'- TATTCCACAGGCAAACAGGGAG -3'
Sequencing Primer
(F):5'- GACGTAATTCAGTACAGTAATTGGC -3'
(R):5'- CAGGCAAACAGGGAGGAAGGATAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation