Incidental Mutation 'R2299:Ankrd42'
| ID |
245263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd42
|
| Ensembl Gene |
ENSMUSG00000041343 |
| Gene Name |
ankyrin repeat domain 42 |
| Synonyms |
Ikbn, 4933417L02Rik |
| MMRRC Submission |
040298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R2299 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
92230931-92286350 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92239462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 442
(I442T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056106]
[ENSMUST00000118157]
[ENSMUST00000126305]
|
| AlphaFold |
Q3V096 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056106
AA Change: I442T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000061208
Gene: ENSMUSG00000041343
AA Change: I442T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
25 |
54 |
1.1e2 |
SMART |
|
ANK
|
59 |
88 |
7.3e-3 |
SMART |
|
ANK
|
92 |
121 |
6.71e-2 |
SMART |
|
ANK
|
125 |
154 |
1.48e-3 |
SMART |
|
ANK
|
158 |
187 |
2.11e2 |
SMART |
|
ANK
|
191 |
220 |
9.78e-4 |
SMART |
|
ANK
|
263 |
293 |
1.33e2 |
SMART |
|
ANK
|
297 |
326 |
1.22e-4 |
SMART |
|
coiled coil region
|
437 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118157
AA Change: I442T
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113767
Gene: ENSMUSG00000041343
AA Change: I442T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
25 |
54 |
1.1e2 |
SMART |
|
ANK
|
59 |
88 |
7.3e-3 |
SMART |
|
ANK
|
92 |
121 |
6.71e-2 |
SMART |
|
ANK
|
125 |
154 |
1.48e-3 |
SMART |
|
ANK
|
158 |
187 |
2.11e2 |
SMART |
|
ANK
|
191 |
220 |
9.78e-4 |
SMART |
|
ANK
|
263 |
293 |
1.33e2 |
SMART |
|
ANK
|
297 |
326 |
1.22e-4 |
SMART |
|
coiled coil region
|
437 |
489 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
507 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126305
|
| SMART Domains |
Protein: ENSMUSP00000123315
Gene: ENSMUSG00000041343
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
25 |
54 |
1.1e2 |
SMART |
|
ANK
|
59 |
88 |
7.3e-3 |
SMART |
|
ANK
|
92 |
121 |
6.71e-2 |
SMART |
|
ANK
|
125 |
154 |
2.92e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0883 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
| 5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
| Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
| Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
| Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
| Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
| Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
| Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
| H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
| Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
| Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,571 (GRCm39) |
M315V |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
| Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
| Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
| Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
| Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
| Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
| Other mutations in Ankrd42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Ankrd42
|
APN |
7 |
92,233,662 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01151:Ankrd42
|
APN |
7 |
92,254,408 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01444:Ankrd42
|
APN |
7 |
92,259,793 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01933:Ankrd42
|
APN |
7 |
92,254,493 (GRCm39) |
missense |
probably benign |
|
|
IGL03195:Ankrd42
|
APN |
7 |
92,241,066 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03397:Ankrd42
|
APN |
7 |
92,268,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Ankrd42
|
UTSW |
7 |
92,241,067 (GRCm39) |
nonsense |
probably null |
|
|
R0278:Ankrd42
|
UTSW |
7 |
92,280,865 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0839:Ankrd42
|
UTSW |
7 |
92,261,980 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1227:Ankrd42
|
UTSW |
7 |
92,254,508 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1603:Ankrd42
|
UTSW |
7 |
92,268,899 (GRCm39) |
intron |
probably benign |
|
|
R2281:Ankrd42
|
UTSW |
7 |
92,274,981 (GRCm39) |
nonsense |
probably null |
|
|
R2324:Ankrd42
|
UTSW |
7 |
92,273,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2874:Ankrd42
|
UTSW |
7 |
92,254,566 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3940:Ankrd42
|
UTSW |
7 |
92,240,996 (GRCm39) |
splice site |
probably null |
|
|
R4998:Ankrd42
|
UTSW |
7 |
92,273,282 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5579:Ankrd42
|
UTSW |
7 |
92,239,390 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5954:Ankrd42
|
UTSW |
7 |
92,273,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6140:Ankrd42
|
UTSW |
7 |
92,241,036 (GRCm39) |
splice site |
probably null |
|
|
R6924:Ankrd42
|
UTSW |
7 |
92,231,224 (GRCm39) |
unclassified |
probably benign |
|
|
R6944:Ankrd42
|
UTSW |
7 |
92,268,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7096:Ankrd42
|
UTSW |
7 |
92,241,040 (GRCm39) |
nonsense |
probably null |
|
|
R7101:Ankrd42
|
UTSW |
7 |
92,280,752 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7155:Ankrd42
|
UTSW |
7 |
92,241,141 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7410:Ankrd42
|
UTSW |
7 |
92,259,762 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7500:Ankrd42
|
UTSW |
7 |
92,241,080 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7640:Ankrd42
|
UTSW |
7 |
92,268,843 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7737:Ankrd42
|
UTSW |
7 |
92,254,470 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8669:Ankrd42
|
UTSW |
7 |
92,268,881 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8794:Ankrd42
|
UTSW |
7 |
92,263,674 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9646:Ankrd42
|
UTSW |
7 |
92,273,257 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0065:Ankrd42
|
UTSW |
7 |
92,259,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGACAGGATTCAAATTCACCCC -3'
(R):5'- TGGTACCTTCTAGCACACCAC -3'
Sequencing Primer
(F):5'- CTCAAAGCTTACAATTTTAGCCAC -3'
(R):5'- ACCTTCTAGCACACCACATATTTTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation