Incidental Mutation 'R2380:Kcmf1'
ID |
248420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kcmf1
|
Ensembl Gene |
ENSMUSG00000055239 |
Gene Name |
potassium channel modulatory factor 1 |
Synonyms |
1700094M07Rik, Pmcf, clone DEBT-91 |
MMRRC Submission |
040356-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R2380 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72818097-72876962 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 72835755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145559
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068697]
[ENSMUST00000204598]
[ENSMUST00000204708]
[ENSMUST00000206378]
[ENSMUST00000206378]
|
AlphaFold |
Q80UY2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000068697
|
SMART Domains |
Protein: ENSMUSP00000064410 Gene: ENSMUSG00000055239
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: ENSMUST00000203431
|
Predicted Effect |
probably null
Transcript: ENSMUST00000204598
|
SMART Domains |
Protein: ENSMUSP00000144910 Gene: ENSMUSG00000055239
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 benign
Transcript: ENSMUST00000204708
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206378
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206378
|
Meta Mutation Damage Score |
0.9498 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
100% (44/44) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,036 (GRCm39) |
S978P |
possibly damaging |
Het |
Ago3 |
G |
A |
4: 126,262,315 (GRCm39) |
R412C |
probably damaging |
Het |
Ampd3 |
C |
T |
7: 110,399,917 (GRCm39) |
T344M |
probably damaging |
Het |
Arl10 |
G |
T |
13: 54,722,962 (GRCm39) |
V19L |
probably benign |
Het |
Aspm |
C |
T |
1: 139,407,086 (GRCm39) |
A1991V |
probably damaging |
Het |
Axdnd1 |
A |
T |
1: 156,193,221 (GRCm39) |
D655E |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,196,878 (GRCm39) |
H1169R |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,023,586 (GRCm39) |
F942L |
probably damaging |
Het |
Camk2g |
A |
G |
14: 20,789,455 (GRCm39) |
I205T |
probably damaging |
Het |
Cdh5 |
C |
A |
8: 104,852,304 (GRCm39) |
H140N |
possibly damaging |
Het |
Cog8 |
C |
A |
8: 107,782,993 (GRCm39) |
G99W |
probably damaging |
Het |
Csmd1 |
A |
G |
8: 16,240,101 (GRCm39) |
C1104R |
probably damaging |
Het |
Dhrs7c |
G |
A |
11: 67,706,690 (GRCm39) |
V283M |
probably benign |
Het |
Emilin2 |
T |
A |
17: 71,617,219 (GRCm39) |
Q64L |
probably benign |
Het |
Enpp3 |
T |
C |
10: 24,652,770 (GRCm39) |
E729G |
probably benign |
Het |
Fam169a |
T |
A |
13: 97,255,043 (GRCm39) |
|
probably benign |
Het |
Gvin-ps3 |
T |
C |
7: 105,681,374 (GRCm39) |
E627G |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,441,135 (GRCm39) |
M5374L |
probably benign |
Het |
Hsd17b1 |
A |
T |
11: 100,969,289 (GRCm39) |
I8F |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,036,395 (GRCm39) |
E1111G |
probably benign |
Het |
Kdm1b |
T |
A |
13: 47,227,231 (GRCm39) |
F574L |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,842,738 (GRCm39) |
Y908H |
probably damaging |
Het |
Lig1 |
T |
C |
7: 13,037,722 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,801,551 (GRCm39) |
C698* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,113,144 (GRCm39) |
V1216A |
possibly damaging |
Het |
Or52e3 |
A |
T |
7: 102,869,815 (GRCm39) |
T297S |
possibly damaging |
Het |
Or5b109 |
T |
C |
19: 13,212,085 (GRCm39) |
V157A |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,779,741 (GRCm39) |
T279A |
probably damaging |
Het |
Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
Ppp5c |
A |
G |
7: 16,740,040 (GRCm39) |
Y434H |
probably damaging |
Het |
Pwwp2b |
A |
G |
7: 138,835,366 (GRCm39) |
E269G |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,544,124 (GRCm39) |
T299S |
probably benign |
Het |
Skint5 |
G |
A |
4: 113,403,733 (GRCm39) |
T1163I |
unknown |
Het |
Slc35f4 |
A |
G |
14: 49,543,660 (GRCm39) |
|
probably null |
Het |
Smr2l |
T |
G |
5: 88,430,413 (GRCm39) |
M103R |
probably benign |
Het |
Trmt5 |
A |
G |
12: 73,331,888 (GRCm39) |
I4T |
probably benign |
Het |
Ttc7b |
A |
G |
12: 100,321,260 (GRCm39) |
|
probably null |
Het |
Utp6 |
A |
G |
11: 79,826,831 (GRCm39) |
S582P |
possibly damaging |
Het |
Zbtb41 |
T |
C |
1: 139,351,552 (GRCm39) |
S222P |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
IGL03098:Kcmf1
|
UTSW |
6 |
72,826,567 (GRCm39) |
start codon destroyed |
probably null |
|
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 |
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'- ACCCCTGCGTGTATCTTGAAG -3'
(R):5'- CATAGCATATTCGTCACACTCTTG -3'
Sequencing Primer
(F):5'- CCCCTGCGTGTATCTTGAAGAAATG -3'
(R):5'- GAGCATGGGTGATCTCAATGCAATTC -3'
|
Posted On |
2014-11-11 |