Incidental Mutation 'R5746:Ankrd16'
| ID |
445773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd16
|
| Ensembl Gene |
ENSMUSG00000047909 |
| Gene Name |
ankyrin repeat domain 16 |
| Synonyms |
D430029B21Rik, 2810455F06Rik |
| MMRRC Submission |
043199-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R5746 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
11782687-11795140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11789178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 255
(I255K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056108]
[ENSMUST00000133664]
[ENSMUST00000156067]
|
| AlphaFold |
A2AS55 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056108
AA Change: I255K
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: I255K
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
36 |
66 |
1.15e0 |
SMART |
|
ANK
|
70 |
99 |
7.95e-4 |
SMART |
|
ANK
|
103 |
132 |
1.59e-3 |
SMART |
|
ANK
|
136 |
167 |
1.74e0 |
SMART |
|
ANK
|
170 |
200 |
7.71e-2 |
SMART |
|
ANK
|
204 |
233 |
5.01e-1 |
SMART |
|
ANK
|
238 |
268 |
1.37e2 |
SMART |
|
ANK
|
273 |
302 |
7.53e-5 |
SMART |
|
ANK
|
306 |
336 |
4.07e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125024
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128774
AA Change: I25K
|
| SMART Domains |
Protein: ENSMUSP00000121218
Gene: ENSMUSG00000047909
AA Change: I25K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ank_4
|
10 |
65 |
1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133664
|
| SMART Domains |
Protein: ENSMUSP00000115226
Gene: ENSMUSG00000047909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ank
|
1 |
29 |
1.5e-3 |
PFAM |
|
Pfam:Ank_4
|
1 |
51 |
7.3e-11 |
PFAM |
|
Pfam:Ank_2
|
1 |
56 |
8.9e-11 |
PFAM |
|
Pfam:Ank_5
|
18 |
56 |
1.8e-6 |
PFAM |
|
Pfam:Ank
|
30 |
55 |
3e-5 |
PFAM |
|
Pfam:Ank_3
|
30 |
55 |
2.7e-3 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142622
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150320
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156067
|
| SMART Domains |
Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
36 |
66 |
1.15e0 |
SMART |
|
ANK
|
70 |
99 |
7.95e-4 |
SMART |
|
ANK
|
103 |
132 |
1.59e-3 |
SMART |
|
ANK
|
136 |
165 |
9.46e1 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora3 |
A |
G |
3: 105,815,126 (GRCm39) |
E292G |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,606,612 (GRCm39) |
T1187I |
probably damaging |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,698 (GRCm39) |
N328S |
probably benign |
Het |
| Cbln3 |
A |
G |
14: 56,120,601 (GRCm39) |
S144P |
probably damaging |
Het |
| Cdh12 |
T |
A |
15: 21,358,810 (GRCm39) |
L78Q |
probably null |
Het |
| Cpsf1 |
C |
T |
15: 76,484,037 (GRCm39) |
R761H |
probably benign |
Het |
| Cyp2d10 |
T |
G |
15: 82,289,472 (GRCm39) |
E213D |
probably benign |
Het |
| Gba2 |
T |
C |
4: 43,568,465 (GRCm39) |
|
probably null |
Het |
| Glb1l2 |
G |
A |
9: 26,708,086 (GRCm39) |
A29V |
probably benign |
Het |
| Gm11149 |
C |
T |
9: 49,457,494 (GRCm39) |
G393S |
probably damaging |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,544,635 (GRCm39) |
N574S |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,017,427 (GRCm39) |
V1099A |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Ly6g |
A |
T |
15: 75,028,596 (GRCm39) |
N19Y |
possibly damaging |
Het |
| Nexn |
TCTTCCTTC |
TCTTC |
3: 151,948,513 (GRCm39) |
|
probably benign |
Het |
| Nod2 |
T |
C |
8: 89,390,970 (GRCm39) |
S411P |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Ptpn14 |
G |
A |
1: 189,578,610 (GRCm39) |
|
probably null |
Het |
| Smg6 |
G |
A |
11: 75,030,113 (GRCm39) |
G211E |
probably damaging |
Het |
| Stx16 |
G |
A |
2: 173,935,292 (GRCm39) |
G156R |
probably damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,046,184 (GRCm39) |
S440G |
probably damaging |
Het |
| Tpm2 |
A |
G |
4: 43,519,731 (GRCm39) |
V85A |
possibly damaging |
Het |
| Ttf1 |
G |
T |
2: 28,955,754 (GRCm39) |
A373S |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,201,560 (GRCm39) |
T315S |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,331,378 (GRCm39) |
|
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,818 (GRCm39) |
S75G |
probably benign |
Het |
| Zfp994 |
A |
G |
17: 22,420,254 (GRCm39) |
Y232H |
probably damaging |
Het |
|
| Other mutations in Ankrd16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01663:Ankrd16
|
APN |
2 |
11,783,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0280:Ankrd16
|
UTSW |
2 |
11,786,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Ankrd16
|
UTSW |
2 |
11,794,692 (GRCm39) |
missense |
probably benign |
|
|
R1441:Ankrd16
|
UTSW |
2 |
11,783,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1699:Ankrd16
|
UTSW |
2 |
11,789,204 (GRCm39) |
missense |
probably benign |
|
|
R1858:Ankrd16
|
UTSW |
2 |
11,783,407 (GRCm39) |
missense |
probably benign |
|
|
R1944:Ankrd16
|
UTSW |
2 |
11,788,443 (GRCm39) |
splice site |
probably null |
|
|
R2074:Ankrd16
|
UTSW |
2 |
11,794,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2104:Ankrd16
|
UTSW |
2 |
11,784,711 (GRCm39) |
intron |
probably benign |
|
|
R2131:Ankrd16
|
UTSW |
2 |
11,788,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3847:Ankrd16
|
UTSW |
2 |
11,794,619 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3940:Ankrd16
|
UTSW |
2 |
11,789,192 (GRCm39) |
missense |
probably benign |
|
|
R4424:Ankrd16
|
UTSW |
2 |
11,789,215 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4707:Ankrd16
|
UTSW |
2 |
11,783,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Ankrd16
|
UTSW |
2 |
11,789,127 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5026:Ankrd16
|
UTSW |
2 |
11,794,692 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5079:Ankrd16
|
UTSW |
2 |
11,783,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5251:Ankrd16
|
UTSW |
2 |
11,783,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Ankrd16
|
UTSW |
2 |
11,794,545 (GRCm39) |
missense |
probably benign |
|
|
R6932:Ankrd16
|
UTSW |
2 |
11,791,054 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6958:Ankrd16
|
UTSW |
2 |
11,784,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Ankrd16
|
UTSW |
2 |
11,786,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9259:Ankrd16
|
UTSW |
2 |
11,784,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Ankrd16
|
UTSW |
2 |
11,784,629 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATCCTGACAGAGCTGAAGGTG -3'
(R):5'- GGAGTCAAAGATGCCAGAACTCC -3'
Sequencing Primer
(F):5'- GTAGCCAGAGCCTTGACTTGATC -3'
(R):5'- GAACTCCAGAGCTGTCAGTCACTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation