Incidental Mutation 'R2355:Kcmf1'
| ID |
246865 |
| 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 |
040337-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R2355 (G1)
|
| Quality Score |
211 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
72818097-72876962 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72827466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 58
(I58N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068697]
[ENSMUST00000204598]
[ENSMUST00000204708]
[ENSMUST00000206378]
|
| AlphaFold |
Q80UY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068697
AA Change: I109N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: I109N
| 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: I58N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: I58N
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
| Ahcyl1 |
A |
G |
3: 107,577,533 (GRCm39) |
S296P |
probably damaging |
Het |
| Alas1 |
A |
G |
9: 106,113,673 (GRCm39) |
V524A |
probably damaging |
Het |
| Amn |
C |
A |
12: 111,238,246 (GRCm39) |
D53E |
probably damaging |
Het |
| Bbof1 |
A |
G |
12: 84,470,223 (GRCm39) |
E33G |
probably damaging |
Het |
| Ccdc149 |
T |
C |
5: 52,578,114 (GRCm39) |
E106G |
probably damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,479,560 (GRCm39) |
S226T |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,801,350 (GRCm39) |
S698I |
possibly damaging |
Het |
| Chst2 |
A |
G |
9: 95,288,148 (GRCm39) |
L66P |
probably damaging |
Het |
| Cps1 |
C |
T |
1: 67,195,383 (GRCm39) |
P268L |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
A |
T |
5: 146,036,622 (GRCm39) |
M275L |
probably benign |
Het |
| Ddx41 |
T |
G |
13: 55,682,113 (GRCm39) |
M232L |
probably benign |
Het |
| Dnah6 |
C |
A |
6: 73,133,404 (GRCm39) |
A1068S |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,621,661 (GRCm39) |
I1155V |
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,567,565 (GRCm39) |
V611I |
probably damaging |
Het |
| Epyc |
A |
G |
10: 97,512,875 (GRCm39) |
Y243C |
probably damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,226,570 (GRCm39) |
Q568* |
probably null |
Het |
| Gm5930 |
A |
G |
14: 44,573,918 (GRCm39) |
S105P |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,389,810 (GRCm39) |
D2032G |
probably benign |
Het |
| Gps2 |
AGTGCT |
A |
11: 69,806,207 (GRCm39) |
|
probably null |
Het |
| H2-DMb1 |
A |
G |
17: 34,376,289 (GRCm39) |
Y136C |
probably damaging |
Het |
| Il12b |
A |
G |
11: 44,301,039 (GRCm39) |
E185G |
probably benign |
Het |
| Kat7 |
A |
C |
11: 95,182,407 (GRCm39) |
I231R |
probably benign |
Het |
| Lmf2 |
A |
T |
15: 89,235,966 (GRCm39) |
V646E |
possibly damaging |
Het |
| Lmo7 |
A |
G |
14: 102,126,121 (GRCm39) |
Q409R |
probably damaging |
Het |
| Lmod1 |
T |
A |
1: 135,292,253 (GRCm39) |
H369Q |
probably benign |
Het |
| M1ap |
G |
A |
6: 82,933,484 (GRCm39) |
A13T |
probably benign |
Het |
| Mapk8ip2 |
G |
T |
15: 89,343,168 (GRCm39) |
V637L |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,599,316 (GRCm39) |
V570L |
probably benign |
Het |
| Mfsd1 |
T |
A |
3: 67,508,668 (GRCm39) |
N449K |
probably damaging |
Het |
| Or56a5 |
A |
T |
7: 104,793,020 (GRCm39) |
M166K |
probably benign |
Het |
| Or5b24 |
T |
C |
19: 12,912,383 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or5d18 |
T |
A |
2: 87,865,379 (GRCm39) |
I35F |
probably damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,711 (GRCm39) |
C238Y |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,169 (GRCm39) |
S516R |
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,701,194 (GRCm39) |
M549I |
possibly damaging |
Het |
| Ppl |
A |
G |
16: 4,912,361 (GRCm39) |
V740A |
probably benign |
Het |
| Rabgef1 |
C |
T |
5: 130,240,928 (GRCm39) |
T349M |
probably benign |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,109 (GRCm39) |
C344R |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,611,455 (GRCm39) |
Q172R |
possibly damaging |
Het |
| Smg9 |
G |
A |
7: 24,119,546 (GRCm39) |
|
probably null |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
A |
T |
9: 97,241,293 (GRCm39) |
N646K |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,896,735 (GRCm39) |
I1181V |
probably benign |
Het |
| Vwa5b1 |
C |
A |
4: 138,319,221 (GRCm39) |
|
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 |
|
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 |
|
|
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'- CACGGCACTGTATGAAAAGG -3'
(R):5'- TACCGATAGACAACTCTGCTGG -3'
Sequencing Primer
(F):5'- CGGCACTGTATGAAAAGGTCAAAC -3'
(R):5'- GATAGACAACTCTGCTGGAAATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation