Incidental Mutation 'IGL02957:Kcnh5'
| ID |
365196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kcnh5
|
| Ensembl Gene |
ENSMUSG00000034402 |
| Gene Name |
potassium voltage-gated channel, subfamily H (eag-related), member 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
74943994-75224106 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75054439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 502
(S502G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042299]
|
| AlphaFold |
Q920E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042299
AA Change: S502G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000046864
Gene: ENSMUSG00000034402
AA Change: S502G
| Domain | Start | End | E-Value | Type |
|---|
|
PAS
|
14 |
86 |
8.97e0 |
SMART |
|
PAC
|
92 |
134 |
6.64e-7 |
SMART |
|
Pfam:Ion_trans
|
214 |
479 |
1.2e-37 |
PFAM |
|
Pfam:Ion_trans_2
|
390 |
473 |
5e-14 |
PFAM |
|
cNMP
|
550 |
668 |
2.48e-15 |
SMART |
|
low complexity region
|
710 |
717 |
N/A |
INTRINSIC |
|
coiled coil region
|
907 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
953 |
968 |
N/A |
INTRINSIC |
|
| 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 voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a targeted gene disruption display thigmotaxis and abnormal startle reflex. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,509,945 (GRCm39) |
D262G |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,469,701 (GRCm39) |
M405K |
probably damaging |
Het |
| Abtb3 |
C |
T |
10: 85,467,150 (GRCm39) |
|
probably benign |
Het |
| Ahcyl1 |
G |
T |
3: 107,574,958 (GRCm39) |
Q462K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,623,652 (GRCm39) |
T20A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,634,068 (GRCm39) |
Y594N |
possibly damaging |
Het |
| Crtc2 |
C |
T |
3: 90,169,840 (GRCm39) |
P412L |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,716,472 (GRCm39) |
R373* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,840,197 (GRCm39) |
D1277G |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,339,333 (GRCm39) |
V3058E |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,028 (GRCm39) |
L481P |
probably benign |
Het |
| Fbxw7 |
A |
T |
3: 84,883,544 (GRCm39) |
T573S |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,791,272 (GRCm39) |
Y844* |
probably null |
Het |
| Fcrl2 |
C |
A |
3: 87,169,501 (GRCm39) |
V13F |
possibly damaging |
Het |
| Gbx2 |
T |
G |
1: 89,858,375 (GRCm39) |
S35R |
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,049 (GRCm39) |
L86S |
probably benign |
Het |
| Hebp1 |
C |
T |
6: 135,114,990 (GRCm39) |
G157D |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,064,338 (GRCm39) |
V560L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,285 (GRCm39) |
I632T |
probably damaging |
Het |
| Kcnab2 |
A |
T |
4: 152,520,326 (GRCm39) |
S5T |
possibly damaging |
Het |
| Lpcat2 |
T |
A |
8: 93,602,212 (GRCm39) |
Y224* |
probably null |
Het |
| Mcrip2 |
A |
G |
17: 26,087,499 (GRCm39) |
V24A |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,814,842 (GRCm39) |
K493E |
possibly damaging |
Het |
| Myl7 |
A |
G |
11: 5,847,137 (GRCm39) |
S139P |
possibly damaging |
Het |
| Npepps |
C |
T |
11: 97,133,478 (GRCm39) |
R268H |
probably damaging |
Het |
| Oas1c |
C |
T |
5: 120,943,478 (GRCm39) |
W18* |
probably null |
Het |
| Or10ak7 |
G |
T |
4: 118,791,316 (GRCm39) |
T241N |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,968,112 (GRCm39) |
|
probably benign |
Het |
| Pate14 |
G |
T |
9: 36,549,146 (GRCm39) |
T38K |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,376,304 (GRCm39) |
W989R |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,505,384 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
T |
C |
17: 56,007,009 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ppme1 |
A |
T |
7: 99,987,647 (GRCm39) |
I103K |
possibly damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,124,168 (GRCm39) |
H281R |
probably benign |
Het |
| Prep |
T |
C |
10: 45,002,126 (GRCm39) |
V427A |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,803,454 (GRCm39) |
D451G |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,534,104 (GRCm39) |
|
probably benign |
Het |
| Ramacl |
A |
T |
13: 67,056,277 (GRCm39) |
|
probably benign |
Het |
| Rrm2 |
A |
G |
12: 24,758,440 (GRCm39) |
N32S |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,382,291 (GRCm39) |
L752P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,107,143 (GRCm39) |
I429N |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,445,057 (GRCm39) |
M284L |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,934 (GRCm39) |
|
probably benign |
Het |
| Tcta |
G |
A |
9: 108,182,531 (GRCm39) |
S91F |
possibly damaging |
Het |
| Traf3ip2 |
A |
T |
10: 39,530,406 (GRCm39) |
T517S |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,737 (GRCm39) |
S99P |
probably damaging |
Het |
| Vmn2r8 |
G |
A |
5: 108,950,091 (GRCm39) |
T252M |
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,130,372 (GRCm39) |
|
probably benign |
Het |
| Yipf1 |
A |
G |
4: 107,193,347 (GRCm39) |
T78A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,755 (GRCm39) |
Y233F |
probably benign |
Het |
|
| Other mutations in Kcnh5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Kcnh5
|
APN |
12 |
74,944,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00675:Kcnh5
|
APN |
12 |
75,160,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00688:Kcnh5
|
APN |
12 |
74,945,171 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00721:Kcnh5
|
APN |
12 |
75,054,450 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00793:Kcnh5
|
APN |
12 |
75,161,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00802:Kcnh5
|
APN |
12 |
75,054,399 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL00920:Kcnh5
|
APN |
12 |
75,023,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01595:Kcnh5
|
APN |
12 |
74,945,101 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01642:Kcnh5
|
APN |
12 |
75,011,943 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01675:Kcnh5
|
APN |
12 |
75,161,274 (GRCm39) |
nonsense |
probably null |
|
|
IGL01733:Kcnh5
|
APN |
12 |
75,011,966 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02006:Kcnh5
|
APN |
12 |
74,944,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02075:Kcnh5
|
APN |
12 |
75,134,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02148:Kcnh5
|
APN |
12 |
74,944,426 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02155:Kcnh5
|
APN |
12 |
75,223,312 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02304:Kcnh5
|
APN |
12 |
75,023,471 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0305:Kcnh5
|
UTSW |
12 |
75,161,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0470:Kcnh5
|
UTSW |
12 |
75,161,188 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0553:Kcnh5
|
UTSW |
12 |
75,184,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0557:Kcnh5
|
UTSW |
12 |
75,161,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Kcnh5
|
UTSW |
12 |
75,012,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0697:Kcnh5
|
UTSW |
12 |
75,023,305 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0699:Kcnh5
|
UTSW |
12 |
75,023,305 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1512:Kcnh5
|
UTSW |
12 |
75,166,711 (GRCm39) |
missense |
probably benign |
|
|
R1728:Kcnh5
|
UTSW |
12 |
75,184,465 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1739:Kcnh5
|
UTSW |
12 |
75,161,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Kcnh5
|
UTSW |
12 |
75,184,465 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1956:Kcnh5
|
UTSW |
12 |
74,944,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1957:Kcnh5
|
UTSW |
12 |
74,944,358 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2155:Kcnh5
|
UTSW |
12 |
74,945,230 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2185:Kcnh5
|
UTSW |
12 |
75,177,705 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2237:Kcnh5
|
UTSW |
12 |
75,054,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2239:Kcnh5
|
UTSW |
12 |
75,054,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2483:Kcnh5
|
UTSW |
12 |
75,161,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Kcnh5
|
UTSW |
12 |
75,161,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Kcnh5
|
UTSW |
12 |
75,134,350 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3835:Kcnh5
|
UTSW |
12 |
74,945,044 (GRCm39) |
missense |
probably benign |
|
|
R4681:Kcnh5
|
UTSW |
12 |
75,054,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4728:Kcnh5
|
UTSW |
12 |
75,054,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Kcnh5
|
UTSW |
12 |
75,011,925 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5127:Kcnh5
|
UTSW |
12 |
74,944,858 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5267:Kcnh5
|
UTSW |
12 |
75,134,190 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5535:Kcnh5
|
UTSW |
12 |
75,177,681 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5590:Kcnh5
|
UTSW |
12 |
75,023,463 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5684:Kcnh5
|
UTSW |
12 |
75,184,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Kcnh5
|
UTSW |
12 |
74,945,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6123:Kcnh5
|
UTSW |
12 |
75,134,365 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6545:Kcnh5
|
UTSW |
12 |
75,054,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Kcnh5
|
UTSW |
12 |
75,054,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Kcnh5
|
UTSW |
12 |
75,161,219 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7161:Kcnh5
|
UTSW |
12 |
74,944,483 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7437:Kcnh5
|
UTSW |
12 |
75,184,417 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7557:Kcnh5
|
UTSW |
12 |
75,054,399 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7566:Kcnh5
|
UTSW |
12 |
75,161,166 (GRCm39) |
nonsense |
probably null |
|
|
R7591:Kcnh5
|
UTSW |
12 |
75,054,541 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7781:Kcnh5
|
UTSW |
12 |
75,023,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7816:Kcnh5
|
UTSW |
12 |
75,023,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Kcnh5
|
UTSW |
12 |
74,944,633 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8390:Kcnh5
|
UTSW |
12 |
75,134,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Kcnh5
|
UTSW |
12 |
75,023,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Kcnh5
|
UTSW |
12 |
74,944,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9064:Kcnh5
|
UTSW |
12 |
75,177,727 (GRCm39) |
nonsense |
probably null |
|
|
R9283:Kcnh5
|
UTSW |
12 |
75,023,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Kcnh5
|
UTSW |
12 |
75,023,488 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9552:Kcnh5
|
UTSW |
12 |
75,023,334 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9576:Kcnh5
|
UTSW |
12 |
74,944,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9627:Kcnh5
|
UTSW |
12 |
75,160,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9645:Kcnh5
|
UTSW |
12 |
75,134,191 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9650:Kcnh5
|
UTSW |
12 |
75,023,293 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1088:Kcnh5
|
UTSW |
12 |
75,012,069 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1088:Kcnh5
|
UTSW |
12 |
74,944,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Kcnh5
|
UTSW |
12 |
75,161,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnh5
|
UTSW |
12 |
75,054,571 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2015-12-18 |
Incidental Mutation