Incidental Mutation 'R0121:Anxa7'
| ID |
21055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa7
|
| Ensembl Gene |
ENSMUSG00000021814 |
| Gene Name |
annexin A7 |
| Synonyms |
Anx7, synexin |
| MMRRC Submission |
038406-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R0121 (G1)
|
| Quality Score |
167 |
|
Status
|
Validated
(trace)
|
| Chromosome |
14 |
| Chromosomal Location |
20505328-20530201 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20510227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 386
(L386M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153669
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065504]
[ENSMUST00000100844]
[ENSMUST00000224975]
[ENSMUST00000225941]
|
| AlphaFold |
Q07076 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065504
AA Change: L386M
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066035
Gene: ENSMUSG00000021814
AA Change: L386M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
129 |
N/A |
INTRINSIC |
|
ANX
|
177 |
229 |
5.92e-26 |
SMART |
|
ANX
|
249 |
301 |
3.12e-25 |
SMART |
|
ANX
|
333 |
385 |
1.03e-11 |
SMART |
|
ANX
|
408 |
460 |
2e-23 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100844
AA Change: L408M
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098405
Gene: ENSMUSG00000021814
AA Change: L408M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
129 |
N/A |
INTRINSIC |
|
ANX
|
177 |
229 |
5.92e-26 |
SMART |
|
ANX
|
249 |
301 |
3.12e-25 |
SMART |
|
ANX
|
333 |
385 |
1.03e-11 |
SMART |
|
ANX
|
408 |
460 |
2e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224410
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224975
AA Change: L386M
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225941
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226001
|
| Meta Mutation Damage Score |
0.4389 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.8%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3'-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele are viable but exhibit altered Ca2+ signaling and/or homeostasis in cardiomyocytes and glia cells, and changes in erythrocyte shape, osmotic resistance, platelet number and aggregation velocity. Homozygotes for another null allele die at ~E10 with cerebral hemorrhage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,298,945 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
T |
C |
5: 50,183,128 (GRCm39) |
|
probably benign |
Het |
| Ap2b1 |
A |
G |
11: 83,212,793 (GRCm39) |
M58V |
possibly damaging |
Het |
| Arfip2 |
A |
G |
7: 105,285,578 (GRCm39) |
L224P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,251 (GRCm39) |
N373S |
possibly damaging |
Het |
| Asph |
T |
C |
4: 9,635,918 (GRCm39) |
D73G |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,116,909 (GRCm39) |
E236V |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,057,116 (GRCm39) |
S170P |
probably damaging |
Het |
| Atp4a |
C |
G |
7: 30,419,526 (GRCm39) |
R659G |
probably benign |
Het |
| B4galnt3 |
C |
T |
6: 120,191,999 (GRCm39) |
R578H |
probably benign |
Het |
| Ccdc178 |
C |
A |
18: 21,978,081 (GRCm39) |
|
probably null |
Het |
| Ccnh |
T |
A |
13: 85,354,312 (GRCm39) |
M252K |
probably damaging |
Het |
| Clec4b2 |
A |
G |
6: 123,181,131 (GRCm39) |
D172G |
probably benign |
Het |
| Col1a1 |
A |
G |
11: 94,828,895 (GRCm39) |
E79G |
unknown |
Het |
| Csf3r |
A |
G |
4: 125,923,642 (GRCm39) |
N51D |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,974,299 (GRCm39) |
L1489F |
probably damaging |
Het |
| Cyp2b13 |
G |
A |
7: 25,786,010 (GRCm39) |
C309Y |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,001,327 (GRCm39) |
|
probably benign |
Het |
| Edn1 |
A |
G |
13: 42,458,741 (GRCm39) |
T135A |
probably benign |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,561,444 (GRCm39) |
F12L |
probably benign |
Het |
| Foxi2 |
C |
A |
7: 135,013,640 (GRCm39) |
A290E |
probably benign |
Het |
| Gabra6 |
A |
G |
11: 42,205,798 (GRCm39) |
S353P |
probably benign |
Het |
| Gm4847 |
T |
C |
1: 166,469,857 (GRCm39) |
D72G |
probably damaging |
Het |
| Grhl3 |
A |
G |
4: 135,279,860 (GRCm39) |
I398T |
probably damaging |
Het |
| Gtdc1 |
T |
C |
2: 44,455,550 (GRCm39) |
|
probably benign |
Het |
| Kel |
A |
C |
6: 41,678,998 (GRCm39) |
|
probably benign |
Het |
| L3mbtl3 |
C |
T |
10: 26,189,768 (GRCm39) |
D499N |
unknown |
Het |
| Lama1 |
T |
A |
17: 68,105,508 (GRCm39) |
|
probably benign |
Het |
| Mamdc2 |
T |
A |
19: 23,288,223 (GRCm39) |
E605V |
probably benign |
Het |
| Nolc1 |
G |
A |
19: 46,069,817 (GRCm39) |
|
probably benign |
Het |
| Nudt12 |
A |
T |
17: 59,314,634 (GRCm39) |
S317T |
possibly damaging |
Het |
| Optn |
C |
T |
2: 5,028,926 (GRCm39) |
G526R |
probably damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,659 (GRCm39) |
C18S |
probably benign |
Het |
| Or5w20 |
A |
G |
2: 87,727,434 (GRCm39) |
K297R |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,056 (GRCm39) |
K302M |
probably damaging |
Het |
| Or8k38 |
A |
G |
2: 86,488,163 (GRCm39) |
V213A |
probably benign |
Het |
| Pbld1 |
C |
T |
10: 62,907,282 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
T |
G |
13: 27,744,589 (GRCm39) |
N84T |
probably benign |
Het |
| Psph |
T |
A |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
A |
G |
7: 110,088,426 (GRCm39) |
|
probably null |
Het |
| Senp6 |
A |
G |
9: 80,023,952 (GRCm39) |
D405G |
probably benign |
Het |
| Serpinb1a |
T |
A |
13: 33,032,754 (GRCm39) |
|
probably benign |
Het |
| Slc2a9 |
T |
C |
5: 38,556,086 (GRCm39) |
I287V |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,795,321 (GRCm39) |
F1593S |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,776,915 (GRCm39) |
Q727L |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,147,017 (GRCm39) |
E450K |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,795,694 (GRCm39) |
T532I |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,612,630 (GRCm39) |
Q396L |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,294,770 (GRCm39) |
|
probably benign |
Het |
| Twnk |
T |
C |
19: 44,997,704 (GRCm39) |
|
probably benign |
Het |
| Ubac1 |
A |
G |
2: 25,898,871 (GRCm39) |
|
probably null |
Het |
| Ubn2 |
T |
C |
6: 38,429,793 (GRCm39) |
|
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,249 (GRCm39) |
T333S |
possibly damaging |
Het |
|
| Other mutations in Anxa7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Anxa7
|
APN |
14 |
20,508,749 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01137:Anxa7
|
APN |
14 |
20,506,648 (GRCm39) |
nonsense |
probably null |
|
|
IGL01376:Anxa7
|
APN |
14 |
20,510,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01651:Anxa7
|
APN |
14 |
20,506,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Anxa7
|
APN |
14 |
20,506,608 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03078:Anxa7
|
APN |
14 |
20,506,624 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03177:Anxa7
|
APN |
14 |
20,506,654 (GRCm39) |
missense |
probably benign |
0.41 |
|
FR4449:Anxa7
|
UTSW |
14 |
20,519,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
FR4548:Anxa7
|
UTSW |
14 |
20,519,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
FR4737:Anxa7
|
UTSW |
14 |
20,519,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
FR4976:Anxa7
|
UTSW |
14 |
20,519,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
LCD18:Anxa7
|
UTSW |
14 |
20,519,479 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0049:Anxa7
|
UTSW |
14 |
20,512,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Anxa7
|
UTSW |
14 |
20,512,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Anxa7
|
UTSW |
14 |
20,519,566 (GRCm39) |
splice site |
probably null |
|
|
R0330:Anxa7
|
UTSW |
14 |
20,519,566 (GRCm39) |
splice site |
probably null |
|
|
R1416:Anxa7
|
UTSW |
14 |
20,512,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Anxa7
|
UTSW |
14 |
20,514,683 (GRCm39) |
nonsense |
probably null |
|
|
R1701:Anxa7
|
UTSW |
14 |
20,510,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1794:Anxa7
|
UTSW |
14 |
20,521,535 (GRCm39) |
missense |
unknown |
|
|
R1828:Anxa7
|
UTSW |
14 |
20,512,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Anxa7
|
UTSW |
14 |
20,517,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5354:Anxa7
|
UTSW |
14 |
20,514,977 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6547:Anxa7
|
UTSW |
14 |
20,519,461 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6985:Anxa7
|
UTSW |
14 |
20,521,636 (GRCm39) |
missense |
unknown |
|
|
R7226:Anxa7
|
UTSW |
14 |
20,510,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7267:Anxa7
|
UTSW |
14 |
20,519,474 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7811:Anxa7
|
UTSW |
14 |
20,510,254 (GRCm39) |
missense |
probably benign |
|
|
R8550:Anxa7
|
UTSW |
14 |
20,506,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8877:Anxa7
|
UTSW |
14 |
20,517,548 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8936:Anxa7
|
UTSW |
14 |
20,521,495 (GRCm39) |
missense |
unknown |
|
|
R9035:Anxa7
|
UTSW |
14 |
20,510,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAAACAATCCTTTTGGTCGCACC -3'
(R):5'- TGCAGCCACGTTTGACAGATCC -3'
Sequencing Primer
(F):5'- TTGGTCGCACCATCAATCAC -3'
(R):5'- TGATTCTCGCCACAAGGAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation