Incidental Mutation 'R4541:Klhl14'
| ID |
333556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl14
|
| Ensembl Gene |
ENSMUSG00000042514 |
| Gene Name |
kelch-like 14 |
| Synonyms |
printor, 6330403N15Rik |
| MMRRC Submission |
041777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.655)
|
| Stock # |
R4541 (G1)
|
| Quality Score |
104 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
21683434-21787775 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 21687696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 575
(Y575*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049105]
[ENSMUST00000122333]
|
| AlphaFold |
Q69ZK5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049105
AA Change: Y575*
|
| SMART Domains |
Protein: ENSMUSP00000042015
Gene: ENSMUSG00000042514
AA Change: Y575*
| 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 null
Transcript: ENSMUST00000122333
AA Change: Y575*
|
| SMART Domains |
Protein: ENSMUSP00000113755
Gene: ENSMUSG00000042514
AA Change: Y575*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,769,676 (GRCm39) |
P73S |
probably benign |
Het |
| 4930533L02Rik |
G |
A |
7: 124,917,750 (GRCm39) |
|
noncoding transcript |
Het |
| Acot4 |
A |
T |
12: 84,090,022 (GRCm39) |
I240F |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,878,496 (GRCm39) |
V10A |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccnb3 |
T |
C |
X: 6,875,308 (GRCm39) |
T424A |
probably benign |
Het |
| Cd8a |
A |
T |
6: 71,350,856 (GRCm39) |
D107V |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,805,648 (GRCm39) |
M278I |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,736,454 (GRCm39) |
V1346I |
probably benign |
Het |
| Clic5 |
C |
T |
17: 44,552,956 (GRCm39) |
T70M |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,934 (GRCm39) |
|
noncoding transcript |
Het |
| Ddhd1 |
G |
A |
14: 45,860,313 (GRCm39) |
R140* |
probably null |
Het |
| Evpl |
T |
G |
11: 116,123,470 (GRCm39) |
I301L |
probably benign |
Het |
| Glul |
T |
A |
1: 153,778,782 (GRCm39) |
Y30* |
probably null |
Het |
| Itgad |
A |
T |
7: 127,797,287 (GRCm39) |
H878L |
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,402,536 (GRCm39) |
I301T |
probably damaging |
Het |
| Mrps2 |
G |
T |
2: 28,358,412 (GRCm39) |
|
probably benign |
Het |
| Mymx |
GCC |
GC |
17: 45,912,519 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,551,229 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,171,706 (GRCm39) |
|
noncoding transcript |
Het |
| Or10g9b |
A |
C |
9: 39,917,589 (GRCm39) |
S219A |
possibly damaging |
Het |
| Or4f15 |
A |
G |
2: 111,813,981 (GRCm39) |
I146T |
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,629,612 (GRCm39) |
M438I |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,258,082 (GRCm39) |
D1199N |
probably damaging |
Het |
| Pmpca |
T |
G |
2: 26,280,201 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
G |
T |
2: 11,288,623 (GRCm39) |
M525I |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,520 (GRCm39) |
|
probably null |
Het |
| Sco1 |
G |
T |
11: 66,943,668 (GRCm39) |
A50S |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,046,037 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,112,849 (GRCm39) |
V148A |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,239,473 (GRCm39) |
R96S |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,222 (GRCm39) |
I919N |
probably damaging |
Het |
| Tcea1 |
T |
C |
1: 4,963,659 (GRCm39) |
L233P |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,884 (GRCm39) |
M1T |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,224 (GRCm39) |
T223A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,896,719 (GRCm39) |
Y243H |
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,025,907 (GRCm39) |
N584I |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,216,192 (GRCm39) |
C7R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,533 (GRCm39) |
M12K |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,490,881 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
G |
7: 27,625,829 (GRCm39) |
V14L |
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 |
|
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 |
|
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'- GATGATGTCACTGGGTGATCAG -3'
(R):5'- AGAAGTAGCCTCAAATGGACTG -3'
Sequencing Primer
(F):5'- TGTCACTGGGTGATCAGGAAAG -3'
(R):5'- TAGCCTCAAATGGACTGTGGAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation