Incidental Mutation 'R1419:Klhl14'
| ID |
160011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl14
|
| Ensembl Gene |
ENSMUSG00000042514 |
| Gene Name |
kelch-like 14 |
| Synonyms |
printor, 6330403N15Rik |
| MMRRC Submission |
039475-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.714)
|
| Stock # |
R1419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
21683434-21787775 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21785250 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 59
(R59L)
|
| 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: R59L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: R59L
| 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: R59L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: R59L
| 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 |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,974,125 (GRCm39) |
M894K |
probably benign |
Het |
| Ablim1 |
C |
A |
19: 57,123,065 (GRCm39) |
C173F |
probably damaging |
Het |
| Abtb2 |
G |
T |
2: 103,539,765 (GRCm39) |
R710L |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,111,485 (GRCm39) |
T1144A |
possibly damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,938,516 (GRCm39) |
V92D |
probably damaging |
Het |
| Ash1l |
T |
G |
3: 88,892,204 (GRCm39) |
M1361R |
probably damaging |
Het |
| Atm |
A |
C |
9: 53,368,789 (GRCm39) |
N2337K |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,555,215 (GRCm39) |
E316G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,671 (GRCm39) |
Y858C |
probably damaging |
Het |
| Enc1 |
G |
T |
13: 97,382,692 (GRCm39) |
G401C |
probably damaging |
Het |
| Gata6 |
T |
C |
18: 11,064,706 (GRCm39) |
V506A |
probably benign |
Het |
| Gm16380 |
C |
T |
9: 53,791,471 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b8 |
G |
A |
17: 34,246,617 (GRCm39) |
R89C |
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,847,531 (GRCm39) |
N322Y |
probably damaging |
Het |
| Igsf9 |
T |
A |
1: 172,325,578 (GRCm39) |
V1082E |
probably damaging |
Het |
| Katnal2 |
A |
T |
18: 77,065,128 (GRCm39) |
L481Q |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,417,710 (GRCm39) |
T713A |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,978,711 (GRCm39) |
T230A |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,035,038 (GRCm39) |
C213R |
probably damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,397,717 (GRCm39) |
M178L |
probably benign |
Het |
| Myof |
T |
C |
19: 37,890,359 (GRCm39) |
E1971G |
probably damaging |
Het |
| Naa10 |
A |
G |
X: 72,961,522 (GRCm39) |
V133A |
probably damaging |
Het |
| Nlrp4g |
G |
A |
9: 124,349,434 (GRCm38) |
|
noncoding transcript |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,182,120 (GRCm39) |
I1047V |
probably benign |
Het |
| Or4a15 |
T |
C |
2: 89,193,666 (GRCm39) |
T36A |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,640 (GRCm39) |
F260I |
probably benign |
Het |
| Or5al1 |
A |
G |
2: 85,989,773 (GRCm39) |
*314Q |
probably null |
Het |
| Paip1 |
A |
G |
13: 119,593,553 (GRCm39) |
D189G |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,400,151 (GRCm39) |
F624L |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,943,454 (GRCm39) |
P1899H |
probably damaging |
Het |
| Rpa3 |
T |
A |
6: 8,257,720 (GRCm39) |
E47D |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,064,457 (GRCm39) |
T826A |
possibly damaging |
Het |
| Snai2 |
C |
T |
16: 14,526,044 (GRCm39) |
H232Y |
possibly damaging |
Het |
| Spint5 |
T |
C |
2: 164,557,331 (GRCm39) |
S23P |
possibly damaging |
Het |
| St8sia2 |
G |
A |
7: 73,616,742 (GRCm39) |
Q78* |
probably null |
Het |
| Tktl2 |
A |
G |
8: 66,965,690 (GRCm39) |
N416S |
probably damaging |
Het |
| Tm7sf3 |
T |
A |
6: 146,505,475 (GRCm39) |
I494F |
possibly damaging |
Het |
| Trf |
C |
T |
9: 103,103,307 (GRCm39) |
V119M |
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 |
|
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGTTGGCTGTGTAGAGGTATTCAAG -3'
(R):5'- TTGCTGCCAAGAGAGAAGCCTG -3'
Sequencing Primer
(F):5'- TATTCAAGCACTAGGCGCAG -3'
(R):5'- accacaccacaccccac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation