Incidental Mutation 'R0419:Klhl1'
ID |
36949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl1
|
Ensembl Gene |
ENSMUSG00000022076 |
Gene Name |
kelch-like 1 |
Synonyms |
|
MMRRC Submission |
038621-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R0419 (G1)
|
Quality Score |
121 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 96619225 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 224
(R224Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
AlphaFold |
Q9JI74 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022666
AA Change: R224Q
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000022666 Gene: ENSMUSG00000022076 AA Change: R224Q
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
low complexity region
|
107 |
119 |
N/A |
INTRINSIC |
BTB
|
215 |
312 |
1.13e-28 |
SMART |
BACK
|
317 |
418 |
5.03e-34 |
SMART |
Kelch
|
463 |
509 |
8.86e-10 |
SMART |
Kelch
|
510 |
556 |
1.04e-15 |
SMART |
Kelch
|
557 |
603 |
6.76e-15 |
SMART |
Kelch
|
604 |
650 |
2.23e-15 |
SMART |
Kelch
|
651 |
703 |
3.09e-9 |
SMART |
Kelch
|
704 |
750 |
3.43e-16 |
SMART |
|
Meta Mutation Damage Score |
0.1871 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.8%
|
Validation Efficiency |
98% (54/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010] PHENOTYPE: Mice both homozygous and heterozygous for disruption of this gene develop abnormalities in gait and defects in motor coordination with time. Dendritic atrophy of Purkinje cells is also seen. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
T |
C |
8: 13,601,842 (GRCm39) |
|
probably benign |
Het |
5730507C01Rik |
A |
T |
12: 18,583,424 (GRCm39) |
R161S |
possibly damaging |
Het |
Adamts5 |
T |
C |
16: 85,663,530 (GRCm39) |
I735V |
probably benign |
Het |
Arid1a |
G |
T |
4: 133,408,435 (GRCm39) |
P2024Q |
unknown |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
B3galt4 |
T |
C |
17: 34,169,764 (GRCm39) |
Y158C |
probably damaging |
Het |
BC049715 |
A |
G |
6: 136,817,143 (GRCm39) |
T128A |
possibly damaging |
Het |
Btaf1 |
T |
A |
19: 36,922,629 (GRCm39) |
I11N |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,077,485 (GRCm39) |
I496V |
probably damaging |
Het |
Chd8 |
A |
T |
14: 52,441,517 (GRCm39) |
H858Q |
probably benign |
Het |
Chrne |
T |
C |
11: 70,506,549 (GRCm39) |
I324V |
probably benign |
Het |
Clec14a |
T |
C |
12: 58,314,451 (GRCm39) |
I390M |
probably damaging |
Het |
Cpsf3 |
A |
G |
12: 21,347,800 (GRCm39) |
Y207C |
probably damaging |
Het |
Cubn |
A |
C |
2: 13,474,574 (GRCm39) |
I410S |
possibly damaging |
Het |
Cubn |
T |
A |
2: 13,474,575 (GRCm39) |
I410F |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,050,740 (GRCm39) |
E997G |
possibly damaging |
Het |
Emilin1 |
G |
T |
5: 31,072,366 (GRCm39) |
V71F |
probably damaging |
Het |
Esrp2 |
T |
C |
8: 106,861,307 (GRCm39) |
E164G |
probably damaging |
Het |
Fars2 |
A |
G |
13: 36,721,285 (GRCm39) |
T410A |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,903,552 (GRCm39) |
V2981A |
probably damaging |
Het |
Fkbp15 |
G |
A |
4: 62,244,373 (GRCm39) |
T472I |
probably benign |
Het |
Gm6871 |
A |
G |
7: 41,222,869 (GRCm39) |
V73A |
probably benign |
Het |
Gnl2 |
T |
G |
4: 124,947,320 (GRCm39) |
S647R |
probably benign |
Het |
Grb10 |
T |
C |
11: 11,884,207 (GRCm39) |
I500V |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,353,356 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
A |
C |
13: 95,826,207 (GRCm39) |
|
probably null |
Het |
Kcnu1 |
A |
T |
8: 26,427,646 (GRCm39) |
N321I |
probably benign |
Het |
Kif23 |
G |
A |
9: 61,833,687 (GRCm39) |
R519* |
probably null |
Het |
Lama1 |
T |
C |
17: 68,098,605 (GRCm39) |
|
probably null |
Het |
Lamp3 |
T |
C |
16: 19,492,302 (GRCm39) |
Y314C |
probably damaging |
Het |
Lamtor5 |
C |
A |
3: 107,189,227 (GRCm39) |
R88S |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,726,715 (GRCm39) |
A2088E |
probably benign |
Het |
Neo1 |
A |
G |
9: 58,897,463 (GRCm39) |
|
probably benign |
Het |
Ntn4 |
A |
T |
10: 93,518,291 (GRCm39) |
R199S |
probably benign |
Het |
Or5ap2 |
A |
T |
2: 85,680,311 (GRCm39) |
R172* |
probably null |
Het |
Plekho2 |
A |
G |
9: 65,464,334 (GRCm39) |
S172P |
possibly damaging |
Het |
Pmp2 |
T |
C |
3: 10,245,823 (GRCm39) |
Y129C |
probably damaging |
Het |
Prss3b |
T |
C |
6: 41,011,281 (GRCm39) |
N34D |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,270,592 (GRCm39) |
M578K |
possibly damaging |
Het |
Ranbp3 |
C |
T |
17: 57,015,219 (GRCm39) |
T307M |
possibly damaging |
Het |
Serpinb11 |
G |
A |
1: 107,304,590 (GRCm39) |
W185* |
probably null |
Het |
Setdb2 |
A |
T |
14: 59,644,193 (GRCm39) |
|
probably null |
Het |
Sirpb1b |
A |
T |
3: 15,613,656 (GRCm39) |
V75E |
probably damaging |
Het |
Slc13a1 |
A |
T |
6: 24,100,292 (GRCm39) |
L397Q |
probably damaging |
Het |
Slc19a1 |
T |
A |
10: 76,878,742 (GRCm39) |
I355N |
probably damaging |
Het |
Slc51a |
T |
A |
16: 32,295,254 (GRCm39) |
I275F |
possibly damaging |
Het |
Spink14 |
T |
C |
18: 44,164,934 (GRCm39) |
S84P |
probably damaging |
Het |
Stx2 |
A |
G |
5: 129,070,641 (GRCm39) |
|
probably benign |
Het |
Tgfbi |
G |
T |
13: 56,780,006 (GRCm39) |
|
probably benign |
Het |
Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
Upb1 |
T |
C |
10: 75,248,717 (GRCm39) |
V79A |
probably damaging |
Het |
Zdhhc5 |
A |
T |
2: 84,521,587 (GRCm39) |
|
probably null |
Het |
Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
Zfp280d |
T |
C |
9: 72,219,519 (GRCm39) |
V32A |
probably benign |
Het |
|
Other mutations in Klhl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01573:Klhl1
|
APN |
14 |
96,438,640 (GRCm39) |
splice site |
probably benign |
|
IGL02055:Klhl1
|
APN |
14 |
96,517,539 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02110:Klhl1
|
APN |
14 |
96,374,039 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02216:Klhl1
|
APN |
14 |
96,360,658 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02307:Klhl1
|
APN |
14 |
96,438,809 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02538:Klhl1
|
APN |
14 |
96,477,649 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02559:Klhl1
|
APN |
14 |
96,389,396 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02682:Klhl1
|
APN |
14 |
96,438,778 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL03228:Klhl1
|
APN |
14 |
96,477,763 (GRCm39) |
missense |
probably damaging |
1.00 |
LCD18:Klhl1
|
UTSW |
14 |
96,555,166 (GRCm39) |
intron |
probably benign |
|
P0041:Klhl1
|
UTSW |
14 |
96,517,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R0270:Klhl1
|
UTSW |
14 |
96,755,780 (GRCm39) |
start gained |
probably benign |
|
R0938:Klhl1
|
UTSW |
14 |
96,389,476 (GRCm39) |
nonsense |
probably null |
|
R1465:Klhl1
|
UTSW |
14 |
96,477,649 (GRCm39) |
missense |
probably benign |
0.03 |
R1465:Klhl1
|
UTSW |
14 |
96,477,649 (GRCm39) |
missense |
probably benign |
0.03 |
R1590:Klhl1
|
UTSW |
14 |
96,606,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:Klhl1
|
UTSW |
14 |
96,438,647 (GRCm39) |
critical splice donor site |
probably null |
|
R1893:Klhl1
|
UTSW |
14 |
96,477,642 (GRCm39) |
critical splice donor site |
probably null |
|
R1928:Klhl1
|
UTSW |
14 |
96,584,225 (GRCm39) |
missense |
probably benign |
0.02 |
R2272:Klhl1
|
UTSW |
14 |
96,755,344 (GRCm39) |
missense |
probably benign |
0.00 |
R3612:Klhl1
|
UTSW |
14 |
96,619,206 (GRCm39) |
critical splice donor site |
probably null |
|
R3852:Klhl1
|
UTSW |
14 |
96,517,641 (GRCm39) |
missense |
probably benign |
0.12 |
R3872:Klhl1
|
UTSW |
14 |
96,755,615 (GRCm39) |
missense |
probably benign |
0.03 |
R3874:Klhl1
|
UTSW |
14 |
96,755,615 (GRCm39) |
missense |
probably benign |
0.03 |
R3923:Klhl1
|
UTSW |
14 |
96,584,316 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3925:Klhl1
|
UTSW |
14 |
96,584,316 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3926:Klhl1
|
UTSW |
14 |
96,584,316 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4151:Klhl1
|
UTSW |
14 |
96,755,752 (GRCm39) |
start codon destroyed |
probably null |
0.73 |
R4502:Klhl1
|
UTSW |
14 |
96,755,282 (GRCm39) |
missense |
probably benign |
|
R4536:Klhl1
|
UTSW |
14 |
96,374,019 (GRCm39) |
critical splice donor site |
probably null |
|
R4729:Klhl1
|
UTSW |
14 |
96,517,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R4756:Klhl1
|
UTSW |
14 |
96,389,402 (GRCm39) |
missense |
probably benign |
0.39 |
R5001:Klhl1
|
UTSW |
14 |
96,374,046 (GRCm39) |
missense |
probably damaging |
0.96 |
R5022:Klhl1
|
UTSW |
14 |
96,374,142 (GRCm39) |
missense |
probably benign |
0.31 |
R5616:Klhl1
|
UTSW |
14 |
96,755,729 (GRCm39) |
missense |
probably benign |
0.44 |
R5634:Klhl1
|
UTSW |
14 |
96,477,707 (GRCm39) |
missense |
probably damaging |
0.96 |
R5700:Klhl1
|
UTSW |
14 |
96,755,476 (GRCm39) |
missense |
probably benign |
|
R5701:Klhl1
|
UTSW |
14 |
96,438,816 (GRCm39) |
missense |
probably benign |
|
R5934:Klhl1
|
UTSW |
14 |
96,360,651 (GRCm39) |
critical splice donor site |
probably null |
|
R5950:Klhl1
|
UTSW |
14 |
96,477,790 (GRCm39) |
missense |
probably damaging |
0.99 |
R6454:Klhl1
|
UTSW |
14 |
96,517,527 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6496:Klhl1
|
UTSW |
14 |
96,477,652 (GRCm39) |
missense |
probably benign |
0.03 |
R6606:Klhl1
|
UTSW |
14 |
96,360,658 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6644:Klhl1
|
UTSW |
14 |
96,755,354 (GRCm39) |
missense |
probably benign |
|
R6745:Klhl1
|
UTSW |
14 |
96,517,438 (GRCm39) |
critical splice donor site |
probably null |
|
R6919:Klhl1
|
UTSW |
14 |
96,374,030 (GRCm39) |
missense |
probably benign |
0.00 |
R7029:Klhl1
|
UTSW |
14 |
96,755,632 (GRCm39) |
missense |
probably benign |
0.01 |
R7195:Klhl1
|
UTSW |
14 |
96,517,513 (GRCm39) |
missense |
probably benign |
0.08 |
R7467:Klhl1
|
UTSW |
14 |
96,360,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Klhl1
|
UTSW |
14 |
96,584,304 (GRCm39) |
missense |
probably benign |
0.09 |
R7650:Klhl1
|
UTSW |
14 |
96,584,379 (GRCm39) |
missense |
probably damaging |
0.96 |
R7817:Klhl1
|
UTSW |
14 |
96,374,186 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8221:Klhl1
|
UTSW |
14 |
96,517,546 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8444:Klhl1
|
UTSW |
14 |
96,755,326 (GRCm39) |
missense |
probably benign |
|
R8483:Klhl1
|
UTSW |
14 |
96,619,370 (GRCm39) |
missense |
probably benign |
|
R9100:Klhl1
|
UTSW |
14 |
96,584,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
|
Posted On |
2013-05-09 |