Incidental Mutation 'R5901:Ankra2'
ID |
456341 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankra2
|
Ensembl Gene |
ENSMUSG00000021661 |
Gene Name |
ankyrin repeat family A member 2 |
Synonyms |
|
MMRRC Submission |
043239-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.275)
|
Stock # |
R5901 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
98399584-98411262 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98407644 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 38
(E38G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022164]
[ENSMUST00000091356]
[ENSMUST00000123924]
[ENSMUST00000150352]
[ENSMUST00000150916]
[ENSMUST00000226100]
|
AlphaFold |
Q99PE2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022164
AA Change: E198G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022164 Gene: ENSMUSG00000021661 AA Change: E198G
Domain | Start | End | E-Value | Type |
ANK
|
180 |
209 |
1.45e-6 |
SMART |
ANK
|
213 |
242 |
1.05e-3 |
SMART |
ANK
|
246 |
275 |
1.76e-5 |
SMART |
Blast:ANK
|
279 |
308 |
1e-7 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091356
AA Change: E38G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000088915 Gene: ENSMUSG00000021661 AA Change: E38G
Domain | Start | End | E-Value | Type |
ANK
|
20 |
49 |
1.45e-6 |
SMART |
ANK
|
53 |
82 |
1.05e-3 |
SMART |
ANK
|
86 |
115 |
1.76e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123924
AA Change: E198G
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000122701 Gene: ENSMUSG00000021661 AA Change: E198G
Domain | Start | End | E-Value | Type |
ANK
|
180 |
209 |
1.45e-6 |
SMART |
ANK
|
213 |
242 |
1.05e-3 |
SMART |
ANK
|
246 |
275 |
1.76e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150352
AA Change: E198G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117508 Gene: ENSMUSG00000021661 AA Change: E198G
Domain | Start | End | E-Value | Type |
ANK
|
180 |
209 |
1.45e-6 |
SMART |
ANK
|
213 |
242 |
1.05e-3 |
SMART |
ANK
|
246 |
275 |
1.76e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150916
AA Change: E38G
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000116590 Gene: ENSMUSG00000021661 AA Change: E38G
Domain | Start | End | E-Value | Type |
ANK
|
20 |
49 |
1.45e-6 |
SMART |
ANK
|
53 |
82 |
1.05e-3 |
SMART |
ANK
|
86 |
115 |
1.76e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155629
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223606
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226100
AA Change: E38G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
T |
A |
11: 99,728,163 (GRCm39) |
S227C |
unknown |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adamts15 |
C |
T |
9: 30,813,786 (GRCm39) |
R793H |
probably damaging |
Het |
Aqp8 |
G |
A |
7: 123,061,807 (GRCm39) |
C8Y |
probably damaging |
Het |
Atg9b |
A |
G |
5: 24,597,017 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
A |
G |
6: 83,735,339 (GRCm39) |
E469G |
possibly damaging |
Het |
B4gat1 |
T |
A |
19: 5,089,241 (GRCm39) |
Y79* |
probably null |
Het |
BB019430 |
T |
A |
10: 58,540,014 (GRCm39) |
|
noncoding transcript |
Het |
Calhm3 |
T |
C |
19: 47,146,052 (GRCm39) |
Y51C |
probably damaging |
Het |
Ccr2 |
C |
T |
9: 123,906,239 (GRCm39) |
T173I |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,885,538 (GRCm39) |
D359G |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,566,639 (GRCm39) |
E1022G |
possibly damaging |
Het |
Drd2 |
T |
A |
9: 49,318,259 (GRCm39) |
C400* |
probably null |
Het |
Efcab7 |
T |
A |
4: 99,766,941 (GRCm39) |
H495Q |
probably damaging |
Het |
Faim |
T |
C |
9: 98,874,195 (GRCm39) |
V29A |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,526,326 (GRCm39) |
S350P |
probably damaging |
Het |
Fbxw16 |
T |
C |
9: 109,270,285 (GRCm39) |
E152G |
probably benign |
Het |
Kif17 |
T |
C |
4: 138,025,643 (GRCm39) |
|
probably null |
Het |
Kif24 |
A |
T |
4: 41,428,604 (GRCm39) |
S119T |
probably damaging |
Het |
Ly6k |
A |
T |
15: 74,670,429 (GRCm39) |
S38T |
probably benign |
Het |
Mapk10 |
A |
G |
5: 103,061,158 (GRCm39) |
S430P |
probably damaging |
Het |
Megf10 |
G |
A |
18: 57,410,180 (GRCm39) |
A654T |
probably benign |
Het |
Mlph |
T |
C |
1: 90,867,536 (GRCm39) |
L450P |
probably damaging |
Het |
Otof |
T |
C |
5: 30,532,323 (GRCm39) |
D1603G |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,116,771 (GRCm39) |
S1580P |
possibly damaging |
Het |
Rad54b |
G |
A |
4: 11,595,919 (GRCm39) |
R232H |
possibly damaging |
Het |
Sar1b |
C |
T |
11: 51,670,576 (GRCm39) |
T40I |
possibly damaging |
Het |
Scyl2 |
C |
T |
10: 89,496,124 (GRCm39) |
S242N |
probably benign |
Het |
Sema4b |
A |
G |
7: 79,874,715 (GRCm39) |
N702D |
possibly damaging |
Het |
Slc16a11 |
A |
G |
11: 70,107,172 (GRCm39) |
I394V |
probably benign |
Het |
Stard9 |
A |
C |
2: 120,531,851 (GRCm39) |
T2703P |
probably damaging |
Het |
Stat5b |
A |
T |
11: 100,695,733 (GRCm39) |
L83Q |
possibly damaging |
Het |
Tas2r119 |
T |
A |
15: 32,177,932 (GRCm39) |
V166D |
possibly damaging |
Het |
Tmem117 |
T |
A |
15: 94,612,839 (GRCm39) |
I125N |
probably benign |
Het |
Tmem39a |
T |
C |
16: 38,393,568 (GRCm39) |
I89T |
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,178,565 (GRCm39) |
H3272Q |
probably damaging |
Het |
Vmn1r7 |
T |
C |
6: 57,001,591 (GRCm39) |
E223G |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,603,796 (GRCm39) |
V658A |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,343,410 (GRCm39) |
T1884S |
possibly damaging |
Het |
Xkr4 |
A |
T |
1: 3,286,901 (GRCm39) |
F430I |
probably damaging |
Het |
Yae1d1 |
A |
G |
13: 18,164,200 (GRCm39) |
M1T |
probably null |
Het |
Zfand4 |
T |
C |
6: 116,265,084 (GRCm39) |
V183A |
probably damaging |
Het |
|
Other mutations in Ankra2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02168:Ankra2
|
APN |
13 |
98,409,882 (GRCm39) |
splice site |
probably benign |
|
IGL02807:Ankra2
|
APN |
13 |
98,408,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03030:Ankra2
|
APN |
13 |
98,409,881 (GRCm39) |
splice site |
probably benign |
|
R0068:Ankra2
|
UTSW |
13 |
98,409,891 (GRCm39) |
nonsense |
probably null |
|
R0068:Ankra2
|
UTSW |
13 |
98,409,891 (GRCm39) |
nonsense |
probably null |
|
R0302:Ankra2
|
UTSW |
13 |
98,408,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Ankra2
|
UTSW |
13 |
98,402,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Ankra2
|
UTSW |
13 |
98,408,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Ankra2
|
UTSW |
13 |
98,407,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R2185:Ankra2
|
UTSW |
13 |
98,402,912 (GRCm39) |
missense |
probably damaging |
0.99 |
R2230:Ankra2
|
UTSW |
13 |
98,407,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R2232:Ankra2
|
UTSW |
13 |
98,407,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R3898:Ankra2
|
UTSW |
13 |
98,410,317 (GRCm39) |
missense |
probably benign |
0.13 |
R4605:Ankra2
|
UTSW |
13 |
98,402,742 (GRCm39) |
intron |
probably benign |
|
R4855:Ankra2
|
UTSW |
13 |
98,409,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:Ankra2
|
UTSW |
13 |
98,405,005 (GRCm39) |
critical splice donor site |
probably null |
|
R6478:Ankra2
|
UTSW |
13 |
98,404,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Ankra2
|
UTSW |
13 |
98,402,882 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Ankra2
|
UTSW |
13 |
98,408,785 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGCAAACGAAATTCAGCCTG -3'
(R):5'- TTTCACGTGGGATTCCATTGC -3'
Sequencing Primer
(F):5'- AGCCTGTTGAACTTCACTGAG -3'
(R):5'- GGATTCCATTGCTTTCCTGGCTAG -3'
|
Posted On |
2017-02-15 |