Incidental Mutation 'IGL01140:Kcnab3'
| ID |
52375 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnab3
|
| Ensembl Gene |
ENSMUSG00000018470 |
| Gene Name |
potassium voltage-gated channel, shaker-related subfamily, beta member 3 |
| Synonyms |
Kcnab4, C330022D06Rik, mKv(beta)4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01140
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
69217084-69223867 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69220705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 145
(K145R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018614]
[ENSMUST00000060956]
[ENSMUST00000102601]
[ENSMUST00000102602]
[ENSMUST00000108662]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018614
AA Change: K145R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018614
Gene: ENSMUSG00000018470
AA Change: K145R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
65 |
N/A |
INTRINSIC |
|
Pfam:Aldo_ket_red
|
92 |
396 |
1.6e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060956
|
| SMART Domains |
Protein: ENSMUSP00000050153
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
109 |
2.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102601
|
| SMART Domains |
Protein: ENSMUSP00000099661
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102602
|
| SMART Domains |
Protein: ENSMUSP00000099662
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
137 |
1.4e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108662
|
| SMART Domains |
Protein: ENSMUSP00000104302
Gene: ENSMUSG00000049299
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sybindin
|
3 |
127 |
2.2e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140555
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142328
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
All alleles(3) : Targeted(3)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
A |
G |
5: 90,672,726 (GRCm39) |
E187G |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,256,317 (GRCm39) |
V205A |
probably damaging |
Het |
| Atg16l1 |
A |
G |
1: 87,702,575 (GRCm39) |
I279V |
probably benign |
Het |
| Atp2b2 |
C |
T |
6: 113,766,932 (GRCm39) |
V436I |
possibly damaging |
Het |
| Cald1 |
T |
A |
6: 34,739,196 (GRCm39) |
S640T |
possibly damaging |
Het |
| Cdc23 |
A |
G |
18: 34,769,385 (GRCm39) |
Y460H |
probably benign |
Het |
| Cenpk |
T |
A |
13: 104,372,742 (GRCm39) |
|
probably benign |
Het |
| Ctss |
A |
G |
3: 95,446,036 (GRCm39) |
E52G |
probably damaging |
Het |
| Cuzd1 |
A |
T |
7: 130,913,523 (GRCm39) |
C365S |
probably damaging |
Het |
| Cyp2c55 |
T |
C |
19: 39,007,093 (GRCm39) |
L163P |
probably benign |
Het |
| Cyp4f37 |
T |
C |
17: 32,848,027 (GRCm39) |
S182P |
probably benign |
Het |
| Flt4 |
G |
T |
11: 49,525,770 (GRCm39) |
E740* |
probably null |
Het |
| Galntl6 |
T |
A |
8: 58,411,356 (GRCm39) |
R291S |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,124,694 (GRCm39) |
V568I |
probably benign |
Het |
| Ift70a1 |
A |
G |
2: 75,810,259 (GRCm39) |
V608A |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,109,928 (GRCm39) |
V2183A |
probably benign |
Het |
| Lrmda |
C |
T |
14: 22,646,585 (GRCm39) |
A75V |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,815,258 (GRCm39) |
E282G |
probably damaging |
Het |
| Muc19 |
A |
T |
15: 91,783,593 (GRCm39) |
|
noncoding transcript |
Het |
| Mug1 |
A |
G |
6: 121,859,693 (GRCm39) |
T1231A |
probably benign |
Het |
| Nkpd1 |
A |
G |
7: 19,257,387 (GRCm39) |
T389A |
possibly damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,336 (GRCm39) |
*358Q |
probably null |
Het |
| Nup160 |
G |
T |
2: 90,530,909 (GRCm39) |
M522I |
possibly damaging |
Het |
| Obsl1 |
T |
A |
1: 75,466,400 (GRCm39) |
|
probably benign |
Het |
| Or4m1 |
T |
A |
14: 50,557,732 (GRCm39) |
I187F |
probably damaging |
Het |
| Or5ak24 |
T |
C |
2: 85,260,484 (GRCm39) |
T230A |
probably benign |
Het |
| Or5b119 |
G |
A |
19: 13,457,151 (GRCm39) |
T137I |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,005,070 (GRCm39) |
P341S |
probably benign |
Het |
| Papola |
C |
A |
12: 105,775,856 (GRCm39) |
C7* |
probably null |
Het |
| Pld1 |
C |
A |
3: 28,132,386 (GRCm39) |
L525I |
probably benign |
Het |
| Prom2 |
T |
C |
2: 127,373,125 (GRCm39) |
|
probably benign |
Het |
| Psmb5 |
G |
A |
14: 54,855,264 (GRCm39) |
T62I |
possibly damaging |
Het |
| Sag |
A |
G |
1: 87,751,086 (GRCm39) |
E184G |
probably benign |
Het |
| Slc16a10 |
T |
C |
10: 39,952,921 (GRCm39) |
Y191C |
probably damaging |
Het |
| Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
| Ssx2ip |
A |
G |
3: 146,133,598 (GRCm39) |
Y231C |
probably benign |
Het |
| Trib1 |
A |
G |
15: 59,523,476 (GRCm39) |
Y170C |
probably damaging |
Het |
| Trmt10a |
G |
A |
3: 137,862,459 (GRCm39) |
|
probably benign |
Het |
| Troap |
G |
T |
15: 98,980,027 (GRCm39) |
Q402H |
probably damaging |
Het |
| Vmn2r70 |
G |
A |
7: 85,214,379 (GRCm39) |
Q258* |
probably null |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zmym1 |
A |
G |
4: 126,943,435 (GRCm39) |
F318L |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,745,672 (GRCm39) |
S589P |
probably benign |
Het |
|
| Other mutations in Kcnab3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00841:Kcnab3
|
APN |
11 |
69,222,129 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01642:Kcnab3
|
APN |
11 |
69,221,256 (GRCm39) |
missense |
probably benign |
|
|
IGL02589:Kcnab3
|
APN |
11 |
69,222,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
H8786:Kcnab3
|
UTSW |
11 |
69,219,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Kcnab3
|
UTSW |
11 |
69,221,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0046:Kcnab3
|
UTSW |
11 |
69,221,053 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2247:Kcnab3
|
UTSW |
11 |
69,221,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3771:Kcnab3
|
UTSW |
11 |
69,219,389 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4725:Kcnab3
|
UTSW |
11 |
69,221,294 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4927:Kcnab3
|
UTSW |
11 |
69,217,572 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6237:Kcnab3
|
UTSW |
11 |
69,219,401 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7164:Kcnab3
|
UTSW |
11 |
69,222,184 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7676:Kcnab3
|
UTSW |
11 |
69,217,553 (GRCm39) |
missense |
probably benign |
|
|
R7880:Kcnab3
|
UTSW |
11 |
69,222,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Kcnab3
|
UTSW |
11 |
69,218,990 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9255:Kcnab3
|
UTSW |
11 |
69,222,337 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation