Incidental Mutation 'P0027:Klhl14'
ID |
7949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl14
|
Ensembl Gene |
ENSMUSG00000042514 |
Gene Name |
kelch-like 14 |
Synonyms |
printor, 6330403N15Rik |
MMRRC Submission |
038280-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.655)
|
Stock # |
P0027 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
21683434-21787775 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21691192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 446
(Y446C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113755
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049105]
[ENSMUST00000122333]
|
AlphaFold |
Q69ZK5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049105
AA Change: Y446C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042015 Gene: ENSMUSG00000042514 AA Change: Y446C
Domain | Start | End | E-Value | Type |
BTB
|
33 |
183 |
6.57e-25 |
SMART |
BACK
|
191 |
281 |
2.61e-9 |
SMART |
Kelch
|
325 |
374 |
1.63e-1 |
SMART |
Kelch
|
375 |
426 |
3.66e-2 |
SMART |
Kelch
|
427 |
473 |
5.05e-14 |
SMART |
Kelch
|
474 |
520 |
1.79e-5 |
SMART |
Kelch
|
521 |
572 |
3.06e-4 |
SMART |
Kelch
|
573 |
622 |
5.29e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000122333
AA Change: Y446C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113755 Gene: ENSMUSG00000042514 AA Change: Y446C
Domain | Start | End | E-Value | Type |
BTB
|
33 |
183 |
6.57e-25 |
SMART |
BACK
|
191 |
281 |
2.61e-9 |
SMART |
Kelch
|
325 |
374 |
1.63e-1 |
SMART |
Kelch
|
375 |
426 |
3.66e-2 |
SMART |
Kelch
|
427 |
473 |
5.05e-14 |
SMART |
Kelch
|
474 |
520 |
1.79e-5 |
SMART |
Kelch
|
521 |
572 |
3.06e-4 |
SMART |
Kelch
|
573 |
622 |
5.29e-1 |
SMART |
|
Meta Mutation Damage Score |
0.9685 |
Coding Region Coverage |
- 1x: 82.6%
- 3x: 72.9%
- 10x: 45.3%
- 20x: 23.4%
|
Validation Efficiency |
93% (53/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
Ftsj3 |
C |
A |
11: 106,145,634 (GRCm39) |
M66I |
possibly damaging |
Het |
Kdm2a |
C |
T |
19: 4,393,273 (GRCm39) |
|
probably benign |
Het |
Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,941,492 (GRCm39) |
D159G |
probably damaging |
Het |
Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
Myh15 |
C |
T |
16: 48,901,571 (GRCm39) |
T249I |
possibly damaging |
Het |
Nap1l5 |
T |
A |
6: 58,883,810 (GRCm39) |
N48I |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
Phactr4 |
G |
C |
4: 132,098,401 (GRCm39) |
T252R |
probably damaging |
Het |
Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Klhl14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00340:Klhl14
|
APN |
18 |
21,784,921 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01474:Klhl14
|
APN |
18 |
21,690,911 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02005:Klhl14
|
APN |
18 |
21,757,668 (GRCm39) |
nonsense |
probably null |
|
IGL02108:Klhl14
|
APN |
18 |
21,690,977 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02371:Klhl14
|
APN |
18 |
21,785,238 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03354:Klhl14
|
APN |
18 |
21,784,785 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4810001:Klhl14
|
UTSW |
18 |
21,690,880 (GRCm39) |
nonsense |
probably null |
|
R0288:Klhl14
|
UTSW |
18 |
21,698,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R1419:Klhl14
|
UTSW |
18 |
21,785,250 (GRCm39) |
missense |
probably damaging |
0.99 |
R1606:Klhl14
|
UTSW |
18 |
21,698,589 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1771:Klhl14
|
UTSW |
18 |
21,784,677 (GRCm39) |
missense |
probably damaging |
0.97 |
R1928:Klhl14
|
UTSW |
18 |
21,784,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R1966:Klhl14
|
UTSW |
18 |
21,687,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R3624:Klhl14
|
UTSW |
18 |
21,690,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R4541:Klhl14
|
UTSW |
18 |
21,687,696 (GRCm39) |
nonsense |
probably null |
|
R4664:Klhl14
|
UTSW |
18 |
21,687,765 (GRCm39) |
missense |
probably benign |
0.06 |
R4856:Klhl14
|
UTSW |
18 |
21,691,029 (GRCm39) |
splice site |
probably null |
|
R4886:Klhl14
|
UTSW |
18 |
21,691,029 (GRCm39) |
splice site |
probably null |
|
R4893:Klhl14
|
UTSW |
18 |
21,690,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R5393:Klhl14
|
UTSW |
18 |
21,785,051 (GRCm39) |
missense |
probably benign |
0.30 |
R5757:Klhl14
|
UTSW |
18 |
21,687,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5951:Klhl14
|
UTSW |
18 |
21,784,677 (GRCm39) |
missense |
probably damaging |
0.97 |
R5958:Klhl14
|
UTSW |
18 |
21,698,592 (GRCm39) |
missense |
probably damaging |
0.99 |
R7231:Klhl14
|
UTSW |
18 |
21,785,193 (GRCm39) |
missense |
probably damaging |
0.99 |
R7519:Klhl14
|
UTSW |
18 |
21,784,900 (GRCm39) |
missense |
probably benign |
0.36 |
R7527:Klhl14
|
UTSW |
18 |
21,784,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R7573:Klhl14
|
UTSW |
18 |
21,785,211 (GRCm39) |
missense |
probably benign |
0.00 |
R7664:Klhl14
|
UTSW |
18 |
21,687,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R7737:Klhl14
|
UTSW |
18 |
21,691,191 (GRCm39) |
nonsense |
probably null |
|
R8079:Klhl14
|
UTSW |
18 |
21,785,022 (GRCm39) |
missense |
probably benign |
0.39 |
R8889:Klhl14
|
UTSW |
18 |
21,691,220 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8892:Klhl14
|
UTSW |
18 |
21,691,220 (GRCm39) |
missense |
possibly damaging |
0.56 |
T0722:Klhl14
|
UTSW |
18 |
21,691,192 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Klhl14
|
UTSW |
18 |
21,784,998 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Klhl14
|
UTSW |
18 |
21,785,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-11-20 |