Incidental Mutation 'R6140:Ankrd42'
| ID |
501853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd42
|
| Ensembl Gene |
ENSMUSG00000041343 |
| Gene Name |
ankyrin repeat domain 42 |
| Synonyms |
Ikbn, 4933417L02Rik |
| MMRRC Submission |
044287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R6140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
92230931-92286350 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 92241036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056106]
[ENSMUST00000118157]
[ENSMUST00000126305]
|
| AlphaFold |
Q3V096 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056106
|
| SMART Domains |
Protein: ENSMUSP00000061208
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 |
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 null
Transcript: ENSMUST00000118157
|
| SMART Domains |
Protein: ENSMUSP00000113767
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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
| Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
| Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
| Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
| Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
| Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
| Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
| Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
| Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
| Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
| Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
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 |
|
|
R2299:Ankrd42
|
UTSW |
7 |
92,239,462 (GRCm39) |
missense |
probably benign |
0.33 |
|
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 |
|
|
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'- CTGGGCTGACAACACTACATTG -3'
(R):5'- GTGCTGCCATCTAAATTATGTTCCC -3'
Sequencing Primer
(F):5'- GTCTGTCCTAGAACTCAGAGATCTG -3'
(R):5'- CTAAATTATGTTCCCATTTAACTGCC -3'
|
| Posted On |
2017-12-04 |
Incidental Mutation