Incidental Mutation 'R5971:Anxa10'
| ID |
470846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa10
|
| Ensembl Gene |
ENSMUSG00000031635 |
| Gene Name |
annexin A10 |
| Synonyms |
|
| MMRRC Submission |
044154-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R5971 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
87% (27/31) |
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 5031439G07Rik |
G |
T |
15: 84,871,863 (GRCm39) |
A4D |
possibly damaging |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,790 (GRCm39) |
V215A |
probably damaging |
Het |
| Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
| Abhd14a |
A |
T |
9: 106,321,065 (GRCm39) |
S97T |
possibly damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Ctnna1 |
T |
C |
18: 35,287,567 (GRCm39) |
V92A |
probably benign |
Het |
| Gcg |
A |
G |
2: 62,306,148 (GRCm39) |
S150P |
probably damaging |
Het |
| Kitl |
G |
A |
10: 99,912,768 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,069,243 (GRCm39) |
V494A |
possibly damaging |
Het |
| Or1ak2 |
G |
A |
2: 36,827,241 (GRCm39) |
V37I |
probably benign |
Het |
| Pik3c2b |
G |
A |
1: 133,002,365 (GRCm39) |
|
probably null |
Het |
| Plagl1 |
G |
A |
10: 13,003,490 (GRCm39) |
G253R |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
| Slc13a1 |
T |
C |
6: 24,133,656 (GRCm39) |
T199A |
probably benign |
Het |
| Spmap2 |
A |
G |
10: 79,420,589 (GRCm39) |
S159P |
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 |
|
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 |
|
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'- AAATTGCAGGACCATCACAGG -3'
(R):5'- CTCAAATCCATTGTCTAGTGTTACC -3'
Sequencing Primer
(F):5'- ACCATCACAGGGAAGTCTATCCTTTG -3'
(R):5'- GAGTGAGTCAAAACCAGACTTATTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation