Incidental Mutation 'R2185:Ankra2'
| ID |
237842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankra2
|
| Ensembl Gene |
ENSMUSG00000021661 |
| Gene Name |
ankyrin repeat family A member 2 |
| Synonyms |
|
| MMRRC Submission |
040187-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
R2185 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
98399584-98411262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98402912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 53
(F53S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022164]
[ENSMUST00000040972]
[ENSMUST00000091356]
[ENSMUST00000123924]
[ENSMUST00000150352]
[ENSMUST00000150916]
[ENSMUST00000226100]
|
| AlphaFold |
Q99PE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022164
AA Change: F53S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022164
Gene: ENSMUSG00000021661
AA Change: F53S
| 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 |
probably benign
Transcript: ENSMUST00000040972
|
| SMART Domains |
Protein: ENSMUSP00000048204
Gene: ENSMUSG00000041747
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
31 |
66 |
6.85e1 |
SMART |
|
WD40
|
69 |
108 |
1.66e-5 |
SMART |
|
WD40
|
111 |
150 |
2.82e-8 |
SMART |
|
WD40
|
153 |
193 |
7.33e-7 |
SMART |
|
WD40
|
196 |
233 |
3.9e-2 |
SMART |
|
WD40
|
237 |
276 |
1.39e-7 |
SMART |
|
WD40
|
279 |
317 |
1.7e2 |
SMART |
|
Pfam:UTP15_C
|
343 |
490 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091356
|
| SMART Domains |
Protein: ENSMUSP00000088915
Gene: ENSMUSG00000021661
| 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 damaging
Transcript: ENSMUST00000123924
AA Change: F53S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122701
Gene: ENSMUSG00000021661
AA Change: F53S
| 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: F53S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117508
Gene: ENSMUSG00000021661
AA Change: F53S
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116590
Gene: ENSMUSG00000021661
| 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 |
probably benign
Transcript: ENSMUST00000226100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224842
|
| Meta Mutation Damage Score |
0.3409 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
| Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
| Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
| Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
| Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
| Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
| Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
| Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
| Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
| Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
| Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
| Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
| Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
| Ptov1 |
T |
G |
7: 44,516,707 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
| Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
| Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
| Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
| Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
| Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
| Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
| Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
| Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
possibly 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 |
|
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 |
|
|
R5901:Ankra2
|
UTSW |
13 |
98,407,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ACAAGAGCAGTGTTTGGGTG -3'
(R):5'- GATGACTTTCAAGCTTTTCCTCAAC -3'
Sequencing Primer
(F):5'- CAGGAAAATACTGGATAACACCTTTG -3'
(R):5'- CTCCTGATTCAAAGAAAACAGAATGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation