Incidental Mutation 'R7198:Kcnd3'
| ID |
560068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnd3
|
| Ensembl Gene |
ENSMUSG00000040896 |
| Gene Name |
potassium voltage-gated channel, Shal-related family, member 3 |
| Synonyms |
Kv4.3, potassium channel Kv4.3L, potassium channel Kv4.3M |
| MMRRC Submission |
045337-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
105359646-105581318 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105366856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 242
(L242P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079169]
[ENSMUST00000098761]
[ENSMUST00000118360]
|
| AlphaFold |
Q9Z0V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079169
AA Change: L242P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078169
Gene: ENSMUSG00000040896
AA Change: L242P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shal-type
|
3 |
31 |
3.2e-17 |
PFAM |
|
BTB
|
40 |
139 |
1.76e-16 |
SMART |
|
Pfam:Ion_trans
|
182 |
414 |
6.6e-45 |
PFAM |
|
Pfam:Ion_trans_2
|
327 |
408 |
9.5e-15 |
PFAM |
|
Pfam:DUF3399
|
442 |
563 |
4.7e-46 |
PFAM |
|
low complexity region
|
610 |
625 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098761
AA Change: L242P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096357
Gene: ENSMUSG00000040896
AA Change: L242P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shal-type
|
3 |
31 |
7.3e-19 |
PFAM |
|
BTB
|
40 |
139 |
1.76e-16 |
SMART |
|
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
228 |
402 |
1e-31 |
PFAM |
|
Pfam:Ion_trans_2
|
327 |
408 |
8.4e-15 |
PFAM |
|
low complexity region
|
412 |
431 |
N/A |
INTRINSIC |
|
Pfam:DUF3399
|
442 |
545 |
9.5e-52 |
PFAM |
|
low complexity region
|
591 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118360
AA Change: L242P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113436
Gene: ENSMUSG00000040896
AA Change: L242P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shal-type
|
3 |
31 |
3.2e-17 |
PFAM |
|
BTB
|
40 |
139 |
1.76e-16 |
SMART |
|
Pfam:Ion_trans
|
182 |
414 |
6.6e-45 |
PFAM |
|
Pfam:Ion_trans_2
|
327 |
408 |
9.5e-15 |
PFAM |
|
Pfam:DUF3399
|
442 |
563 |
4.7e-46 |
PFAM |
|
low complexity region
|
610 |
625 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9682 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter (null) allele are viable and fertile and exhibit normal cardiac morphology and function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,969,481 (GRCm39) |
S365N |
probably damaging |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,792,550 (GRCm39) |
L526P |
probably benign |
Het |
| Bbs1 |
A |
T |
19: 4,945,043 (GRCm39) |
L376Q |
probably damaging |
Het |
| Bcl9 |
T |
A |
3: 97,112,511 (GRCm39) |
M1315L |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,183 (GRCm39) |
Q837R |
probably damaging |
Het |
| Cct2 |
A |
G |
10: 116,889,029 (GRCm39) |
V490A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,148,378 (GRCm39) |
Y2663C |
possibly damaging |
Het |
| Chit1 |
A |
G |
1: 134,078,229 (GRCm39) |
K346E |
possibly damaging |
Het |
| Chl1 |
A |
G |
6: 103,683,517 (GRCm39) |
Y781C |
probably damaging |
Het |
| Col12a1 |
A |
C |
9: 79,557,314 (GRCm39) |
L1938R |
possibly damaging |
Het |
| Cpxm2 |
T |
A |
7: 131,681,813 (GRCm39) |
N239Y |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,519,330 (GRCm39) |
Y54H |
probably benign |
Het |
| Dclk1 |
A |
C |
3: 55,385,296 (GRCm39) |
D369A |
possibly damaging |
Het |
| Dnai4 |
A |
G |
4: 102,919,610 (GRCm39) |
V498A |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,449,190 (GRCm39) |
N71S |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,642,711 (GRCm39) |
N1111K |
probably benign |
Het |
| Fer |
T |
A |
17: 64,228,683 (GRCm39) |
V186E |
possibly damaging |
Het |
| Gm11042 |
T |
A |
12: 74,361,888 (GRCm39) |
H39L |
unknown |
Het |
| Gm14325 |
A |
G |
2: 177,473,798 (GRCm39) |
I428T |
probably benign |
Het |
| Gm47995 |
A |
G |
1: 151,074,404 (GRCm39) |
E69G |
possibly damaging |
Het |
| Gm6176 |
T |
A |
7: 21,750,596 (GRCm39) |
I112F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,005,710 (GRCm39) |
D769E |
probably benign |
Het |
| Hsdl1 |
C |
T |
8: 120,294,607 (GRCm39) |
V40I |
probably benign |
Het |
| Ipmk |
A |
G |
10: 71,183,882 (GRCm39) |
H34R |
probably damaging |
Het |
| Kdm4d |
T |
C |
9: 14,375,316 (GRCm39) |
M181V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,934,582 (GRCm39) |
I716N |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,784,772 (GRCm39) |
Y305C |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,533,962 (GRCm39) |
V150A |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,634,384 (GRCm39) |
S69T |
probably benign |
Het |
| Meltf |
A |
G |
16: 31,702,617 (GRCm39) |
R115G |
possibly damaging |
Het |
| Msgn1 |
G |
T |
12: 11,258,902 (GRCm39) |
D16E |
probably benign |
Het |
| Mthfd2l |
T |
A |
5: 91,094,705 (GRCm39) |
I58K |
probably damaging |
Het |
| Mup18 |
G |
C |
4: 61,591,573 (GRCm39) |
|
probably null |
Het |
| Nek10 |
T |
A |
14: 14,850,947 (GRCm38) |
W331R |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,881,974 (GRCm39) |
Y148C |
probably damaging |
Het |
| Or4a47 |
T |
C |
2: 89,666,076 (GRCm39) |
Y71C |
probably damaging |
Het |
| Or5h19 |
C |
T |
16: 58,856,456 (GRCm39) |
V215I |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,760 (GRCm39) |
C177S |
probably damaging |
Het |
| Oscp1 |
A |
G |
4: 125,980,459 (GRCm39) |
T325A |
possibly damaging |
Het |
| Pcdha4 |
T |
A |
18: 37,086,613 (GRCm39) |
N265K |
probably damaging |
Het |
| Pigq |
C |
T |
17: 26,153,199 (GRCm39) |
V331I |
probably benign |
Het |
| Plekhg4 |
A |
G |
8: 106,105,329 (GRCm39) |
E598G |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,303,748 (GRCm39) |
T120M |
probably damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,726 (GRCm39) |
T240S |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,723,649 (GRCm39) |
I15F |
probably damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,318 (GRCm39) |
D256E |
unknown |
Het |
| Scaf8 |
T |
A |
17: 3,213,373 (GRCm39) |
M154K |
unknown |
Het |
| Slc27a1 |
T |
C |
8: 72,032,071 (GRCm39) |
V64A |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,237,064 (GRCm39) |
R256* |
probably null |
Het |
| Snx31 |
A |
G |
15: 36,555,455 (GRCm39) |
F31L |
probably benign |
Het |
| Spag17 |
T |
C |
3: 100,002,888 (GRCm39) |
S1871P |
probably benign |
Het |
| Tdpoz4 |
T |
G |
3: 93,704,662 (GRCm39) |
S320A |
probably benign |
Het |
| Tmprss11c |
A |
T |
5: 86,379,691 (GRCm39) |
C406S |
probably damaging |
Het |
| Tnip1 |
G |
A |
11: 54,808,630 (GRCm39) |
A519V |
probably benign |
Het |
| Tssc4 |
T |
A |
7: 142,624,724 (GRCm39) |
|
probably null |
Het |
| Uba3 |
A |
T |
6: 97,182,512 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
GAACAAGTCCACAACAA |
GAACAA |
11: 84,913,681 (GRCm39) |
|
probably null |
Het |
| Wnt11 |
T |
C |
7: 98,496,588 (GRCm39) |
M176T |
possibly damaging |
Het |
| Wrn |
C |
T |
8: 33,814,346 (GRCm39) |
G366D |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,255,807 (GRCm39) |
I793N |
probably damaging |
Het |
| Zfp677 |
T |
G |
17: 21,618,679 (GRCm39) |
C579G |
probably damaging |
Het |
| Zscan4-ps1 |
T |
A |
7: 10,799,626 (GRCm39) |
K421M |
probably damaging |
Het |
|
| Other mutations in Kcnd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02296:Kcnd3
|
APN |
3 |
105,574,317 (GRCm39) |
nonsense |
probably null |
|
|
PIT4498001:Kcnd3
|
UTSW |
3 |
105,566,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0483:Kcnd3
|
UTSW |
3 |
105,366,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Kcnd3
|
UTSW |
3 |
105,566,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Kcnd3
|
UTSW |
3 |
105,575,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1853:Kcnd3
|
UTSW |
3 |
105,367,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Kcnd3
|
UTSW |
3 |
105,366,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Kcnd3
|
UTSW |
3 |
105,574,315 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2106:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2287:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2288:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2316:Kcnd3
|
UTSW |
3 |
105,576,442 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2909:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2924:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2925:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3014:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3016:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3038:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3697:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3698:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3778:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3785:Kcnd3
|
UTSW |
3 |
105,575,541 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3810:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3815:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3819:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3877:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3879:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4300:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4549:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4550:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4571:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4593:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4594:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4625:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4632:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Kcnd3
|
UTSW |
3 |
105,566,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Kcnd3
|
UTSW |
3 |
105,566,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Kcnd3
|
UTSW |
3 |
105,574,244 (GRCm39) |
intron |
probably benign |
|
|
R5849:Kcnd3
|
UTSW |
3 |
105,366,111 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7224:Kcnd3
|
UTSW |
3 |
105,576,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7532:Kcnd3
|
UTSW |
3 |
105,575,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Kcnd3
|
UTSW |
3 |
105,366,933 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7975:Kcnd3
|
UTSW |
3 |
105,366,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Kcnd3
|
UTSW |
3 |
105,366,189 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8823:Kcnd3
|
UTSW |
3 |
105,574,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8986:Kcnd3
|
UTSW |
3 |
105,367,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Kcnd3
|
UTSW |
3 |
105,574,290 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9345:Kcnd3
|
UTSW |
3 |
105,566,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9513:Kcnd3
|
UTSW |
3 |
105,572,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Kcnd3
|
UTSW |
3 |
105,366,886 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCCGTCAGACCATGTG -3'
(R):5'- CTTGAAGATCCTGAAGACACGG -3'
Sequencing Primer
(F):5'- GGCACTGGTCTTCTACTATGTGAC -3'
(R):5'- GATCCTGAAGACACGGAAGACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation