Incidental Mutation 'IGL03098:Kcmf1'
| ID |
452973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcmf1
|
| Ensembl Gene |
ENSMUSG00000055239 |
| Gene Name |
potassium channel modulatory factor 1 |
| Synonyms |
1700094M07Rik, Pmcf, clone DEBT-91 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
IGL03098 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
72818097-72876962 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 72826567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068697]
[ENSMUST00000204598]
[ENSMUST00000204708]
[ENSMUST00000206378]
|
| AlphaFold |
Q80UY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068697
AA Change: M154K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: M154K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_ZZ
|
3 |
48 |
6.05e-14 |
SMART |
|
ZnF_C2H2
|
78 |
101 |
3.16e-3 |
SMART |
|
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
192 |
N/A |
INTRINSIC |
|
coiled coil region
|
224 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
340 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203431
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204598
AA Change: M103K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: M103K
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
27 |
50 |
1.4e-5 |
SMART |
|
Blast:ZnF_C2H2
|
57 |
85 |
9e-6 |
BLAST |
|
low complexity region
|
106 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
173 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
289 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204708
AA Change: M1K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206378
|
| Meta Mutation Damage Score |
0.4669 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
92% (44/48) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit some perinatal and postnatal lethality but mice that survive to adulthood exhibit normal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
T |
C |
7: 119,987,499 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,019,038 (GRCm39) |
Q173R |
probably null |
Het |
| Arhgef19 |
A |
G |
4: 140,974,879 (GRCm39) |
D113G |
possibly damaging |
Het |
| Btbd6 |
A |
G |
12: 112,942,038 (GRCm39) |
E501G |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,584,190 (GRCm39) |
V371A |
probably benign |
Het |
| Cd84 |
G |
T |
1: 171,700,267 (GRCm39) |
R128L |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
T |
18: 20,643,422 (GRCm39) |
|
probably benign |
Het |
| Efnb2 |
A |
T |
8: 8,713,420 (GRCm39) |
|
probably benign |
Het |
| Fam24b |
T |
C |
7: 130,927,977 (GRCm39) |
S71G |
probably benign |
Het |
| Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
| Hgd |
G |
A |
16: 37,436,607 (GRCm39) |
C180Y |
probably benign |
Het |
| Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Letm2 |
T |
A |
8: 26,071,745 (GRCm39) |
T386S |
possibly damaging |
Het |
| Lvrn |
A |
T |
18: 47,014,477 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nid2 |
G |
A |
14: 19,856,006 (GRCm39) |
D1244N |
probably damaging |
Het |
| Nvl |
G |
T |
1: 180,921,471 (GRCm39) |
Q843K |
probably benign |
Het |
| Obi1 |
T |
C |
14: 104,716,253 (GRCm39) |
I707V |
possibly damaging |
Het |
| Or1e30 |
T |
G |
11: 73,678,529 (GRCm39) |
I255S |
probably benign |
Het |
| Pi4ka |
A |
T |
16: 17,143,891 (GRCm39) |
I726N |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,449,567 (GRCm39) |
C209S |
probably damaging |
Het |
| Rgs6 |
A |
T |
12: 83,032,150 (GRCm39) |
I21F |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,410,426 (GRCm39) |
D16G |
probably damaging |
Het |
| Rnmt |
G |
A |
18: 68,439,073 (GRCm39) |
V61M |
probably damaging |
Het |
| Rrs1 |
GCTC |
GC |
1: 9,616,328 (GRCm39) |
|
probably null |
Het |
| Scd4 |
A |
T |
19: 44,321,931 (GRCm39) |
M1L |
possibly damaging |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,668,273 (GRCm39) |
I608T |
probably damaging |
Het |
| Sstr5 |
A |
G |
17: 25,710,251 (GRCm39) |
V326A |
probably benign |
Het |
| Sugct |
T |
C |
13: 17,846,321 (GRCm39) |
D62G |
probably damaging |
Het |
| Thada |
C |
G |
17: 84,641,569 (GRCm39) |
D1306H |
possibly damaging |
Het |
| Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
| Tra2a |
G |
A |
6: 49,225,969 (GRCm39) |
S157L |
probably damaging |
Het |
| Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
| Trim9 |
A |
G |
12: 70,327,467 (GRCm39) |
I390T |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,228,230 (GRCm39) |
V765A |
probably benign |
Het |
| Wdr90 |
C |
A |
17: 26,078,961 (GRCm39) |
|
probably benign |
Het |
| Ybey |
A |
T |
10: 76,304,078 (GRCm39) |
C41* |
probably null |
Het |
|
| Other mutations in Kcmf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02903:Kcmf1
|
APN |
6 |
72,835,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03057:Kcmf1
|
APN |
6 |
72,820,010 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03372:Kcmf1
|
APN |
6 |
72,826,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0080:Kcmf1
|
UTSW |
6 |
72,827,470 (GRCm39) |
splice site |
probably null |
|
|
R0082:Kcmf1
|
UTSW |
6 |
72,827,470 (GRCm39) |
splice site |
probably null |
|
|
R0226:Kcmf1
|
UTSW |
6 |
72,819,935 (GRCm39) |
missense |
probably benign |
|
|
R0402:Kcmf1
|
UTSW |
6 |
72,826,568 (GRCm39) |
start codon destroyed |
probably null |
|
|
R0412:Kcmf1
|
UTSW |
6 |
72,825,224 (GRCm39) |
nonsense |
probably null |
|
|
R0616:Kcmf1
|
UTSW |
6 |
72,827,467 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1087:Kcmf1
|
UTSW |
6 |
72,835,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1383:Kcmf1
|
UTSW |
6 |
72,826,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1533:Kcmf1
|
UTSW |
6 |
72,820,003 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1544:Kcmf1
|
UTSW |
6 |
72,825,212 (GRCm39) |
missense |
probably benign |
|
|
R2355:Kcmf1
|
UTSW |
6 |
72,827,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2380:Kcmf1
|
UTSW |
6 |
72,835,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3103:Kcmf1
|
UTSW |
6 |
72,838,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Kcmf1
|
UTSW |
6 |
72,826,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5450:Kcmf1
|
UTSW |
6 |
72,819,913 (GRCm39) |
nonsense |
probably null |
|
|
R5927:Kcmf1
|
UTSW |
6 |
72,819,988 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6467:Kcmf1
|
UTSW |
6 |
72,820,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7048:Kcmf1
|
UTSW |
6 |
72,826,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Kcmf1
|
UTSW |
6 |
72,825,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7089:Kcmf1
|
UTSW |
6 |
72,819,929 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9046:Kcmf1
|
UTSW |
6 |
72,825,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Kcmf1
|
UTSW |
6 |
72,838,826 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCCACTCAGAAGTAGAAAC -3'
(R):5'- AACTGACTGACCTCGGACTGAC -3'
Sequencing Primer
(F):5'- CACACTTACCAGCTATAGGATCCATG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2017-01-24 |
Incidental Mutation