Incidental Mutation 'IGL02108:Klhl14'
ID |
280017 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klhl14
|
Ensembl Gene |
ENSMUSG00000042514 |
Gene Name |
kelch-like 14 |
Synonyms |
printor, 6330403N15Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.655)
|
Stock # |
IGL02108
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
21683434-21787775 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 21690977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 491
(Y491F)
|
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: Y491F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000042015 Gene: ENSMUSG00000042514 AA Change: Y491F
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: Y491F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113755 Gene: ENSMUSG00000042514 AA Change: Y491F
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
C |
8: 56,325,346 (GRCm39) |
I369M |
probably damaging |
Het |
Aff1 |
T |
G |
5: 103,958,975 (GRCm39) |
|
probably null |
Het |
Arid1a |
G |
T |
4: 133,407,827 (GRCm39) |
P2227T |
unknown |
Het |
Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
Auh |
T |
C |
13: 53,043,133 (GRCm39) |
|
probably benign |
Het |
Bptf |
C |
A |
11: 106,965,814 (GRCm39) |
V1012L |
probably benign |
Het |
Cbr1 |
T |
C |
16: 93,407,087 (GRCm39) |
F268L |
probably benign |
Het |
Ccdc190 |
A |
G |
1: 169,761,555 (GRCm39) |
D219G |
probably damaging |
Het |
Ccnb1 |
C |
T |
13: 100,917,665 (GRCm39) |
|
probably null |
Het |
Cdh19 |
G |
T |
1: 110,817,461 (GRCm39) |
S760R |
probably benign |
Het |
Cecr2 |
G |
A |
6: 120,739,519 (GRCm39) |
|
probably null |
Het |
Chid1 |
A |
T |
7: 141,112,841 (GRCm39) |
M1K |
probably null |
Het |
Dzank1 |
T |
C |
2: 144,348,143 (GRCm39) |
T208A |
probably benign |
Het |
Ecm2 |
T |
A |
13: 49,671,920 (GRCm39) |
Y140* |
probably null |
Het |
Enox2 |
A |
G |
X: 48,102,393 (GRCm39) |
L533S |
possibly damaging |
Het |
Fntb |
A |
G |
12: 76,934,631 (GRCm39) |
E167G |
possibly damaging |
Het |
Gpihbp1 |
T |
C |
15: 75,469,461 (GRCm39) |
V92A |
probably benign |
Het |
Grsf1 |
C |
T |
5: 88,813,762 (GRCm39) |
R329Q |
probably benign |
Het |
Gtpbp4 |
T |
A |
13: 9,035,249 (GRCm39) |
D370V |
probably benign |
Het |
H2ac4 |
T |
C |
13: 23,935,207 (GRCm39) |
V31A |
probably benign |
Het |
Lamb3 |
A |
T |
1: 193,014,530 (GRCm39) |
Q563L |
probably damaging |
Het |
Lcn2 |
A |
T |
2: 32,277,617 (GRCm39) |
L124Q |
probably damaging |
Het |
Mbl1 |
T |
C |
14: 40,875,608 (GRCm39) |
S21P |
possibly damaging |
Het |
Myrip |
G |
A |
9: 120,296,631 (GRCm39) |
|
probably null |
Het |
Nmur2 |
T |
C |
11: 55,931,190 (GRCm39) |
T174A |
probably benign |
Het |
Odf1 |
C |
A |
15: 38,226,623 (GRCm39) |
Y174* |
probably null |
Het |
Optn |
A |
G |
2: 5,036,084 (GRCm39) |
V466A |
possibly damaging |
Het |
Or5m12 |
A |
T |
2: 85,734,494 (GRCm39) |
D301E |
possibly damaging |
Het |
Or8b9 |
T |
A |
9: 37,766,234 (GRCm39) |
V40E |
possibly damaging |
Het |
Or8g54 |
A |
T |
9: 39,706,808 (GRCm39) |
I46F |
probably damaging |
Het |
Pde9a |
G |
A |
17: 31,680,667 (GRCm39) |
S316N |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,869,032 (GRCm39) |
I672K |
probably damaging |
Het |
Pklr |
A |
T |
3: 89,044,710 (GRCm39) |
I63F |
probably damaging |
Het |
Plet1 |
T |
C |
9: 50,410,387 (GRCm39) |
|
probably benign |
Het |
Pp2d1 |
T |
A |
17: 53,822,433 (GRCm39) |
D211V |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,542,494 (GRCm39) |
W384R |
probably damaging |
Het |
Prdm11 |
T |
C |
2: 92,806,048 (GRCm39) |
I301V |
probably damaging |
Het |
Prkar1a |
C |
T |
11: 109,558,351 (GRCm39) |
R357C |
probably damaging |
Het |
Ptchd1 |
T |
C |
X: 154,356,548 (GRCm39) |
T886A |
probably damaging |
Het |
Ptpre |
A |
T |
7: 135,260,831 (GRCm39) |
E156V |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,482,478 (GRCm39) |
T1032A |
probably damaging |
Het |
Rras2 |
A |
G |
7: 113,659,623 (GRCm39) |
I47T |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Sh3rf3 |
T |
A |
10: 58,971,650 (GRCm39) |
V826E |
probably damaging |
Het |
Tmem127 |
T |
A |
2: 127,099,026 (GRCm39) |
S132T |
probably damaging |
Het |
Tnrc6c |
C |
A |
11: 117,612,025 (GRCm39) |
P221Q |
probably benign |
Het |
Tstd3 |
A |
T |
4: 21,759,366 (GRCm39) |
|
probably benign |
Het |
Usp46 |
T |
G |
5: 74,189,867 (GRCm39) |
T55P |
probably damaging |
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 |
|
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 |
P0027:Klhl14
|
UTSW |
18 |
21,691,192 (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 |
2015-04-16 |