Incidental Mutation 'R4533:Kcmf1'
ID |
333194 |
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 |
041773-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.965)
|
Stock # |
R4533 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
72818097-72876962 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72826574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 152
(R152C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064410
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068697]
[ENSMUST00000204598]
[ENSMUST00000204708]
[ENSMUST00000206378]
|
AlphaFold |
Q80UY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068697
AA Change: R152C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000064410 Gene: ENSMUSG00000055239 AA Change: R152C
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 benign
Transcript: ENSMUST00000204598
AA Change: R101C
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000144910 Gene: ENSMUSG00000055239 AA Change: R101C
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 benign
Transcript: ENSMUST00000206378
|
Meta Mutation Damage Score |
0.3657 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (54/54) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
A |
G |
9: 90,062,761 (GRCm39) |
Y405C |
probably damaging |
Het |
Ago3 |
A |
T |
4: 126,239,356 (GRCm39) |
S832T |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,929,798 (GRCm39) |
E561G |
possibly damaging |
Het |
Art5 |
T |
C |
7: 101,747,545 (GRCm39) |
H78R |
probably benign |
Het |
Blvra |
T |
A |
2: 126,932,304 (GRCm39) |
|
probably null |
Het |
Ccdc171 |
A |
G |
4: 83,575,579 (GRCm39) |
T488A |
possibly damaging |
Het |
Crtc3 |
A |
T |
7: 80,239,543 (GRCm39) |
M603K |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,981,037 (GRCm39) |
|
probably null |
Het |
Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
Gm7356 |
A |
C |
17: 14,221,672 (GRCm39) |
I119R |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,449,392 (GRCm39) |
D1963E |
probably benign |
Het |
Ighv1-37 |
A |
T |
12: 114,860,147 (GRCm39) |
V21D |
probably damaging |
Het |
Itga3 |
T |
G |
11: 94,948,119 (GRCm39) |
Q602P |
probably benign |
Het |
Lin54 |
T |
C |
5: 100,633,262 (GRCm39) |
I141V |
possibly damaging |
Het |
Mast1 |
T |
A |
8: 85,647,990 (GRCm39) |
H497L |
probably damaging |
Het |
Mrpl44 |
T |
C |
1: 79,753,971 (GRCm39) |
F41S |
possibly damaging |
Het |
Myo18b |
T |
C |
5: 112,840,891 (GRCm39) |
R2301G |
probably damaging |
Het |
Nek1 |
A |
T |
8: 61,460,247 (GRCm39) |
M58L |
possibly damaging |
Het |
Or4k15c |
T |
C |
14: 50,321,156 (GRCm39) |
|
probably null |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
P3h3 |
A |
G |
6: 124,831,371 (GRCm39) |
V338A |
possibly damaging |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Pcdha7 |
T |
C |
18: 37,108,460 (GRCm39) |
V495A |
possibly damaging |
Het |
Plcb3 |
T |
C |
19: 6,933,640 (GRCm39) |
E895G |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,516,057 (GRCm39) |
E770G |
probably damaging |
Het |
Ptchd3 |
C |
T |
11: 121,727,257 (GRCm39) |
S377F |
probably damaging |
Het |
Ptprj |
C |
T |
2: 90,270,299 (GRCm39) |
D1266N |
probably damaging |
Het |
Raly |
A |
T |
2: 154,707,853 (GRCm39) |
E291V |
probably damaging |
Het |
Rnf217 |
C |
A |
10: 31,484,759 (GRCm39) |
C141F |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,083,714 (GRCm39) |
M914V |
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,997,547 (GRCm39) |
T1035A |
probably damaging |
Het |
Tex14 |
C |
T |
11: 87,427,655 (GRCm39) |
R36* |
probably null |
Het |
Tiparp |
A |
G |
3: 65,453,768 (GRCm39) |
D172G |
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
Uap1 |
A |
T |
1: 169,970,994 (GRCm39) |
I466N |
probably damaging |
Het |
Ubr1 |
T |
C |
2: 120,772,963 (GRCm39) |
T426A |
possibly damaging |
Het |
Vmn1r77 |
T |
A |
7: 11,775,756 (GRCm39) |
H177Q |
probably benign |
Het |
Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
Vwc2l |
G |
A |
1: 70,921,298 (GRCm39) |
C151Y |
probably damaging |
Het |
Wdr12 |
T |
C |
1: 60,117,354 (GRCm39) |
Y414C |
probably benign |
Het |
Zfp609 |
A |
C |
9: 65,610,890 (GRCm39) |
V691G |
probably benign |
Het |
Zmiz1 |
T |
C |
14: 25,646,084 (GRCm39) |
Y254H |
probably damaging |
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 |
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 |
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'- AGAGCCTGAGGAACTGACTGAC -3'
Sequencing Primer
(F):5'- CACACTTACCAGCTATAGGATCCATG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2015-08-18 |