Incidental Mutation 'IGL02371:Klhl14'
| ID |
290937 |
| 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 # |
IGL02371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
21683434-21787775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21785238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 63
(S63F)
|
| 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: S63F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: S63F
| 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: S63F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: S63F
| 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 |
noncoding transcript
Transcript: ENSMUST00000132729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144487
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
T |
C |
10: 18,522,287 (GRCm39) |
T580A |
probably benign |
Het |
| Casp2 |
T |
A |
6: 42,244,902 (GRCm39) |
D100E |
probably benign |
Het |
| Cd1d1 |
C |
A |
3: 86,906,188 (GRCm39) |
R29L |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cyct |
A |
G |
2: 76,184,434 (GRCm39) |
*106R |
probably null |
Het |
| Enam |
A |
G |
5: 88,650,668 (GRCm39) |
I726V |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,405,383 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
T |
C |
1: 68,329,453 (GRCm39) |
D632G |
probably benign |
Het |
| Fam217a |
T |
C |
13: 35,095,384 (GRCm39) |
N125S |
possibly damaging |
Het |
| Fbxo32 |
A |
T |
15: 58,044,860 (GRCm39) |
|
probably benign |
Het |
| Foxa1 |
T |
C |
12: 57,589,486 (GRCm39) |
T245A |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,042,452 (GRCm39) |
V395A |
probably benign |
Het |
| Gimap5 |
A |
T |
6: 48,729,937 (GRCm39) |
N169I |
probably damaging |
Het |
| Itgav |
A |
G |
2: 83,600,397 (GRCm39) |
M266V |
probably damaging |
Het |
| Lpp |
G |
A |
16: 24,580,361 (GRCm39) |
A26T |
probably damaging |
Het |
| Lrrc17 |
T |
C |
5: 21,765,994 (GRCm39) |
Y159H |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,591,450 (GRCm39) |
S233T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,676,860 (GRCm39) |
|
probably benign |
Het |
| Nrf1 |
A |
T |
6: 30,118,990 (GRCm39) |
I382F |
possibly damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,362 (GRCm39) |
F171Y |
probably damaging |
Het |
| Or1m1 |
G |
T |
9: 18,666,000 (GRCm39) |
S310R |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
| Pde9a |
T |
A |
17: 31,639,259 (GRCm39) |
V63D |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,595,427 (GRCm39) |
N484K |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,105,691 (GRCm39) |
|
probably null |
Het |
| Pot1b |
A |
G |
17: 56,002,092 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Ptchd4 |
G |
A |
17: 42,627,865 (GRCm39) |
G109S |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,904,527 (GRCm39) |
N119S |
probably benign |
Het |
| Rbm22 |
C |
T |
18: 60,705,028 (GRCm39) |
|
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,661,414 (GRCm39) |
S480R |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,275,535 (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 |
|
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 |
Incidental Mutation