Incidental Mutation 'IGL01060:Anks4b'
| ID |
51410 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anks4b
|
| Ensembl Gene |
ENSMUSG00000030909 |
| Gene Name |
ankyrin repeat and sterile alpha motif domain containing 4B |
| Synonyms |
2010013E14Rik, Harp |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119773081-119782939 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119773148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033201]
|
| AlphaFold |
Q8K3X6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033201
AA Change: T3A
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000033201
Gene: ENSMUSG00000030909
AA Change: T3A
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
31 |
60 |
1.03e-2 |
SMART |
|
ANK
|
64 |
93 |
6.3e-7 |
SMART |
|
ANK
|
97 |
126 |
3.69e2 |
SMART |
|
coiled coil region
|
131 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
189 |
N/A |
INTRINSIC |
|
coiled coil region
|
303 |
335 |
N/A |
INTRINSIC |
|
SAM
|
346 |
411 |
6.52e-8 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,247,542 (GRCm39) |
S209T |
probably benign |
Het |
| Ccdc78 |
A |
G |
17: 26,007,806 (GRCm39) |
D281G |
probably damaging |
Het |
| Ccnb3 |
A |
T |
X: 6,846,513 (GRCm39) |
N1362K |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,368,918 (GRCm39) |
N1662S |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,784,537 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
A |
7: 121,769,315 (GRCm39) |
R904W |
probably damaging |
Het |
| Fam120c |
C |
T |
X: 150,252,583 (GRCm39) |
P1045S |
probably benign |
Het |
| Gm12887 |
C |
T |
4: 121,473,610 (GRCm39) |
|
probably benign |
Het |
| Gpld1 |
G |
A |
13: 25,166,549 (GRCm39) |
G627S |
probably damaging |
Het |
| Krt77 |
T |
A |
15: 101,769,315 (GRCm39) |
|
probably benign |
Het |
| Ltf |
A |
T |
9: 110,851,950 (GRCm39) |
|
probably null |
Het |
| Map3k6 |
G |
T |
4: 132,974,613 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,411,242 (GRCm39) |
G1431D |
probably damaging |
Het |
| Plekhm2 |
C |
T |
4: 141,369,956 (GRCm39) |
|
probably null |
Het |
| Popdc2 |
T |
A |
16: 38,194,327 (GRCm39) |
N249K |
probably damaging |
Het |
| Ppm1h |
A |
G |
10: 122,743,476 (GRCm39) |
D400G |
possibly damaging |
Het |
| Rps6ka1 |
A |
T |
4: 133,588,181 (GRCm39) |
S320T |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,793 (GRCm39) |
R42* |
probably null |
Het |
| Sap130 |
T |
C |
18: 31,848,496 (GRCm39) |
L967P |
probably damaging |
Het |
| Smyd2 |
T |
C |
1: 189,629,667 (GRCm39) |
E121G |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,426,413 (GRCm39) |
W144* |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,860,970 (GRCm39) |
V192A |
probably benign |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,802 (GRCm39) |
V114E |
probably damaging |
Het |
| Trim16 |
T |
C |
11: 62,711,530 (GRCm39) |
I67T |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,615,337 (GRCm39) |
D267G |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,720,073 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,447,016 (GRCm39) |
I379F |
probably damaging |
Het |
| Zfp14 |
T |
C |
7: 29,737,510 (GRCm39) |
T492A |
probably damaging |
Het |
|
| Other mutations in Anks4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01830:Anks4b
|
APN |
7 |
119,773,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02490:Anks4b
|
APN |
7 |
119,773,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02820:Anks4b
|
APN |
7 |
119,781,914 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03074:Anks4b
|
APN |
7 |
119,781,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0383:Anks4b
|
UTSW |
7 |
119,782,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0747:Anks4b
|
UTSW |
7 |
119,781,386 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1125:Anks4b
|
UTSW |
7 |
119,781,580 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1192:Anks4b
|
UTSW |
7 |
119,773,289 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3079:Anks4b
|
UTSW |
7 |
119,781,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3080:Anks4b
|
UTSW |
7 |
119,781,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Anks4b
|
UTSW |
7 |
119,781,646 (GRCm39) |
nonsense |
probably null |
|
|
R5954:Anks4b
|
UTSW |
7 |
119,781,396 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6001:Anks4b
|
UTSW |
7 |
119,781,941 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6920:Anks4b
|
UTSW |
7 |
119,782,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Anks4b
|
UTSW |
7 |
119,781,992 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7946:Anks4b
|
UTSW |
7 |
119,781,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7966:Anks4b
|
UTSW |
7 |
119,781,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8755:Anks4b
|
UTSW |
7 |
119,773,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9259:Anks4b
|
UTSW |
7 |
119,773,278 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:Anks4b
|
UTSW |
7 |
119,781,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-06-21 |
Incidental Mutation