Incidental Mutation 'R1192:Anks4b'
ID |
100884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anks4b
|
Ensembl Gene |
ENSMUSG00000030909 |
Gene Name |
ankyrin repeat and sterile alpha motif domain containing 4B |
Synonyms |
2010013E14Rik, Harp |
MMRRC Submission |
039264-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1192 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119773081-119782939 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 119773289 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 50
(I50L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033201]
|
AlphaFold |
Q8K3X6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033201
AA Change: I50L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000033201 Gene: ENSMUSG00000030909 AA Change: I50L
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 |
|
Meta Mutation Damage Score |
0.0793 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
Validation Efficiency |
97% (32/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahrr |
T |
A |
13: 74,362,522 (GRCm39) |
M326L |
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,811,616 (GRCm39) |
T591A |
probably damaging |
Het |
Arhgef3 |
C |
A |
14: 27,101,663 (GRCm39) |
T133N |
probably damaging |
Het |
Arrdc1 |
T |
C |
2: 24,816,152 (GRCm39) |
I284V |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,109,045 (GRCm39) |
F1088S |
possibly damaging |
Het |
Ccdc88a |
T |
A |
11: 29,454,049 (GRCm39) |
D717E |
possibly damaging |
Het |
Cdh22 |
A |
T |
2: 164,977,203 (GRCm39) |
F439I |
probably damaging |
Het |
Creld1 |
G |
T |
6: 113,466,440 (GRCm39) |
C169F |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,186,859 (GRCm39) |
N78I |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,898,497 (GRCm39) |
H1089Q |
probably damaging |
Het |
Eri2 |
G |
T |
7: 119,391,540 (GRCm39) |
D41E |
probably damaging |
Het |
Exosc9 |
C |
T |
3: 36,606,904 (GRCm39) |
|
probably benign |
Het |
Galnt14 |
C |
T |
17: 73,852,133 (GRCm39) |
|
probably benign |
Het |
Gen1 |
C |
T |
12: 11,305,219 (GRCm39) |
G192D |
probably damaging |
Het |
Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
Ints14 |
T |
C |
9: 64,874,045 (GRCm39) |
V99A |
possibly damaging |
Het |
Iqsec1 |
G |
A |
6: 90,648,958 (GRCm39) |
|
probably benign |
Het |
Jarid2 |
G |
T |
13: 45,060,021 (GRCm39) |
R713L |
probably damaging |
Het |
Nans |
T |
C |
4: 46,502,430 (GRCm39) |
|
probably benign |
Het |
Nkiras2 |
T |
C |
11: 100,516,806 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,958,025 (GRCm39) |
D3558E |
probably benign |
Het |
Or6c66 |
C |
T |
10: 129,461,906 (GRCm39) |
S8N |
probably benign |
Het |
Palb2 |
G |
A |
7: 121,727,432 (GRCm39) |
T146M |
probably benign |
Het |
Pcgf3 |
T |
C |
5: 108,634,054 (GRCm39) |
V104A |
probably benign |
Het |
Polr3e |
A |
G |
7: 120,532,531 (GRCm39) |
D189G |
probably benign |
Het |
Rfc1 |
T |
C |
5: 65,451,254 (GRCm39) |
K278R |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Shcbp1l |
T |
A |
1: 153,301,253 (GRCm39) |
I95N |
possibly damaging |
Het |
Shox2 |
G |
A |
3: 66,881,243 (GRCm39) |
Q246* |
probably null |
Het |
Slc16a4 |
G |
C |
3: 107,206,189 (GRCm39) |
E86D |
probably benign |
Het |
Tubgcp2 |
A |
G |
7: 139,609,751 (GRCm39) |
V202A |
probably benign |
Het |
|
Other mutations in Anks4b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01060:Anks4b
|
APN |
7 |
119,773,148 (GRCm39) |
missense |
possibly damaging |
0.69 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTACCCGCTATCACCAAGCAG -3'
(R):5'- ATTCAGCTTACACCAAGGCCGAG -3'
Sequencing Primer
(F):5'- TATCACCAAGCAGCGAGTG -3'
(R):5'- CTGCCTGAGTGACTCCTAAATGG -3'
|
Posted On |
2014-01-15 |