Incidental Mutation 'R0080:Kcmf1'
| ID |
44237 |
| 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 |
038367-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R0080 (G1)
|
| Quality Score |
167 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
72818097-72876962 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 72827470 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068697]
[ENSMUST00000204598]
[ENSMUST00000204708]
[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: ENSMUST00000203004
|
| 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 null
Transcript: ENSMUST00000204708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206378
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 93.1%
- 20x: 79.7%
|
| Validation Efficiency |
88% (175/200) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC |
10: 95,630,440 (GRCm39) |
|
probably null |
Het |
| Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
| Adgb |
T |
C |
10: 10,253,583 (GRCm39) |
|
probably benign |
Het |
| Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
| Coro7 |
A |
T |
16: 4,448,328 (GRCm39) |
L714Q |
probably damaging |
Het |
| D2hgdh |
A |
G |
1: 93,754,177 (GRCm39) |
Y50C |
probably damaging |
Het |
| Dsg1b |
T |
G |
18: 20,530,424 (GRCm39) |
S360A |
probably damaging |
Het |
| Ednra |
T |
C |
8: 78,401,688 (GRCm39) |
I201V |
probably benign |
Het |
| Ggt6 |
A |
G |
11: 72,328,021 (GRCm39) |
T136A |
possibly damaging |
Het |
| Gnb5 |
A |
T |
9: 75,221,636 (GRCm39) |
E28V |
possibly damaging |
Het |
| Golgb1 |
T |
C |
16: 36,718,973 (GRCm39) |
L293P |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,295 (GRCm39) |
V183A |
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,606,723 (GRCm39) |
S474P |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,487,435 (GRCm39) |
S3477G |
probably benign |
Het |
| Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
| Irx3 |
T |
C |
8: 92,526,954 (GRCm39) |
D250G |
possibly damaging |
Het |
| Jsrp1 |
T |
G |
10: 80,646,349 (GRCm39) |
M70L |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,788,715 (GRCm39) |
V1368A |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nos1 |
G |
T |
5: 118,031,943 (GRCm39) |
C297F |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,955 (GRCm39) |
A176T |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,830,084 (GRCm39) |
I19F |
possibly damaging |
Het |
| Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
| Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
| Pfkfb2 |
A |
T |
1: 130,642,279 (GRCm39) |
S5R |
probably benign |
Het |
| Pign |
G |
T |
1: 105,480,130 (GRCm39) |
A848E |
probably damaging |
Het |
| Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,583,361 (GRCm39) |
K4764N |
probably damaging |
Het |
| Scgb1b19 |
A |
G |
7: 32,987,067 (GRCm39) |
T73A |
probably damaging |
Het |
| Slc35d3 |
T |
C |
10: 19,724,944 (GRCm39) |
E304G |
probably damaging |
Het |
| Snta1 |
A |
G |
2: 154,225,757 (GRCm39) |
V209A |
probably benign |
Het |
| Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
| Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
| Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,452 (GRCm39) |
H123R |
probably benign |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
C |
T |
8: 65,453,251 (GRCm39) |
A333T |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,339 (GRCm39) |
R779S |
probably benign |
Het |
| Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly damaging |
Het |
| Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
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 |
|
|
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'- ACCCTAAAGCACGGCACTGTATG -3'
(R):5'- TCAGCCCTACCGATAGACAACTCTG -3'
Sequencing Primer
(F):5'- CACGGCACTGTATGAAAAGGTC -3'
(R):5'- GATAGACAACTCTGCTGGAAATC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation