Incidental Mutation 'R1124:Anxa10'
ID |
95976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anxa10
|
Ensembl Gene |
ENSMUSG00000031635 |
Gene Name |
annexin A10 |
Synonyms |
|
MMRRC Submission |
039197-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R1124 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
62510076-62576184 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 62514038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034054
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034052]
[ENSMUST00000034054]
|
AlphaFold |
Q9QZ10 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034052
|
SMART Domains |
Protein: ENSMUSP00000034052 Gene: ENSMUSG00000031635
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 null
Transcript: ENSMUST00000034054
|
SMART Domains |
Protein: ENSMUSP00000034054 Gene: ENSMUSG00000031635
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
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 86.6%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
C |
T |
14: 32,384,039 (GRCm39) |
R642Q |
possibly damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,772,639 (GRCm39) |
T48A |
probably benign |
Het |
Aadacl4fm1 |
A |
G |
4: 144,255,194 (GRCm39) |
T205A |
probably benign |
Het |
Aadacl4fm4 |
T |
C |
4: 144,396,845 (GRCm39) |
S296G |
probably benign |
Het |
Bcl11a |
A |
T |
11: 24,113,928 (GRCm39) |
M424L |
probably damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,809,456 (GRCm39) |
S119P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,071,888 (GRCm39) |
D1033G |
probably benign |
Het |
Ccdc174 |
T |
C |
6: 91,876,561 (GRCm39) |
V466A |
probably benign |
Het |
Dnaaf11 |
T |
A |
15: 66,310,264 (GRCm39) |
T335S |
possibly damaging |
Het |
Drd2 |
T |
C |
9: 49,306,940 (GRCm39) |
Y9H |
probably damaging |
Het |
Fbxw14 |
T |
A |
9: 109,105,236 (GRCm39) |
I310F |
possibly damaging |
Het |
Grm3 |
C |
T |
5: 9,620,297 (GRCm39) |
V316I |
probably benign |
Het |
Gys2 |
A |
G |
6: 142,391,739 (GRCm39) |
Y508H |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,765,063 (GRCm39) |
D2921V |
probably damaging |
Het |
Macrod2 |
A |
G |
2: 140,294,547 (GRCm39) |
K71R |
probably damaging |
Het |
Myh7 |
A |
T |
14: 55,211,327 (GRCm39) |
V1614E |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Or8k23 |
T |
A |
2: 86,186,239 (GRCm39) |
K162N |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,722,731 (GRCm39) |
N87I |
probably benign |
Het |
Pmfbp1 |
A |
G |
8: 110,257,115 (GRCm39) |
|
probably null |
Het |
Rasa4 |
A |
G |
5: 136,134,510 (GRCm39) |
N627S |
probably benign |
Het |
Spata31d1b |
A |
C |
13: 59,864,468 (GRCm39) |
M539L |
probably benign |
Het |
Tbc1d23 |
A |
T |
16: 57,034,525 (GRCm39) |
|
probably null |
Het |
Tnfrsf1b |
A |
T |
4: 144,950,926 (GRCm39) |
L229Q |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,714,758 (GRCm39) |
V443E |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,485,733 (GRCm39) |
V2948L |
probably damaging |
Het |
Vmn1r204 |
A |
T |
13: 22,741,209 (GRCm39) |
Y280F |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmn2r93 |
G |
T |
17: 18,518,710 (GRCm39) |
K56N |
probably benign |
Het |
Xrn1 |
A |
G |
9: 95,885,918 (GRCm39) |
I880V |
probably benign |
Het |
Zfp106 |
C |
T |
2: 120,365,195 (GRCm39) |
G404E |
probably benign |
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 |
|
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 |
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'- GGGAAGGCATTAGTTGTCACCGTC -3'
(R):5'- AGTGTTGCCATCATTCTAAGCCCTG -3'
Sequencing Primer
(F):5'- TGAGGATGAAAGACCATGAAGTATC -3'
(R):5'- TGCAAGGTGATGATGGTGGA -3'
|
Posted On |
2014-01-05 |