Incidental Mutation 'R3874:Klhl1'
ID |
276751 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl1
|
Ensembl Gene |
ENSMUSG00000022076 |
Gene Name |
kelch-like 1 |
Synonyms |
|
MMRRC Submission |
040792-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
R3874 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96755615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 47
(F47L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
AlphaFold |
Q9JI74 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022666
AA Change: F47L
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000022666 Gene: ENSMUSG00000022076 AA Change: F47L
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 |
0.0896 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130213A22Rik |
C |
A |
11: 69,012,301 (GRCm39) |
G26* |
probably null |
Het |
Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
Acox2 |
A |
G |
14: 8,248,061 (GRCm38) |
I407T |
probably benign |
Het |
Adam8 |
T |
C |
7: 139,567,520 (GRCm39) |
N408D |
probably damaging |
Het |
Adgre1 |
A |
T |
17: 57,708,925 (GRCm39) |
T39S |
probably benign |
Het |
Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
Arid1b |
T |
A |
17: 5,386,790 (GRCm39) |
|
probably null |
Het |
Atp2c2 |
A |
G |
8: 120,462,035 (GRCm39) |
I303V |
possibly damaging |
Het |
Bpifc |
C |
T |
10: 85,827,118 (GRCm39) |
V144I |
probably benign |
Het |
Camk4 |
A |
G |
18: 33,291,907 (GRCm39) |
E189G |
possibly damaging |
Het |
Casz1 |
A |
G |
4: 149,024,046 (GRCm39) |
|
probably benign |
Het |
Ccdc134 |
T |
C |
15: 82,015,643 (GRCm39) |
V41A |
possibly damaging |
Het |
Chrd |
A |
T |
16: 20,557,660 (GRCm39) |
T753S |
probably damaging |
Het |
Cracd |
A |
G |
5: 76,988,739 (GRCm39) |
D30G |
probably damaging |
Het |
Cyb561a3 |
T |
C |
19: 10,562,735 (GRCm39) |
V125A |
probably benign |
Het |
D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,410,842 (GRCm39) |
F1687S |
probably damaging |
Het |
Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
Dnai2 |
G |
T |
11: 114,623,781 (GRCm39) |
G15W |
probably damaging |
Het |
Dsg1c |
A |
G |
18: 20,410,109 (GRCm39) |
I526V |
probably benign |
Het |
Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
Gli1 |
A |
T |
10: 127,166,088 (GRCm39) |
V1055E |
probably damaging |
Het |
Hand2 |
G |
T |
8: 57,775,011 (GRCm39) |
A24S |
probably benign |
Het |
Helb |
T |
C |
10: 119,941,942 (GRCm39) |
I249V |
probably benign |
Het |
Hspa4l |
G |
A |
3: 40,727,074 (GRCm39) |
V492M |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,266,660 (GRCm39) |
I1916T |
probably damaging |
Het |
Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
Kcnu1 |
T |
A |
8: 26,375,345 (GRCm39) |
L353H |
probably damaging |
Het |
Klhl13 |
T |
C |
X: 23,151,415 (GRCm39) |
D21G |
probably benign |
Het |
Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
Krt9 |
C |
T |
11: 100,081,675 (GRCm39) |
V285I |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,146 (GRCm39) |
R344G |
possibly damaging |
Het |
Mier2 |
G |
T |
10: 79,377,631 (GRCm39) |
P439T |
possibly damaging |
Het |
Mppe1 |
T |
A |
18: 67,358,957 (GRCm39) |
|
probably null |
Het |
Nedd4l |
G |
A |
18: 65,300,606 (GRCm39) |
A243T |
probably benign |
Het |
Notch4 |
T |
A |
17: 34,797,043 (GRCm39) |
C934* |
probably null |
Het |
Nsmce3 |
C |
T |
7: 64,521,916 (GRCm39) |
D251N |
probably damaging |
Het |
Or10a49 |
C |
T |
7: 108,468,335 (GRCm39) |
V9M |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
Or3a10 |
A |
G |
11: 73,935,525 (GRCm39) |
C192R |
probably damaging |
Het |
Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,470 (GRCm39) |
I164T |
probably benign |
Het |
Pdzd7 |
T |
C |
19: 45,034,067 (GRCm39) |
T6A |
probably benign |
Het |
Picalm |
T |
A |
7: 89,838,427 (GRCm39) |
F493Y |
probably damaging |
Het |
Prl7d1 |
A |
G |
13: 27,900,651 (GRCm39) |
M1T |
probably null |
Het |
Prl8a1 |
T |
C |
13: 27,759,441 (GRCm39) |
K199E |
possibly damaging |
Het |
Rims1 |
C |
T |
1: 22,498,740 (GRCm39) |
R764H |
probably damaging |
Het |
Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
Rufy2 |
T |
C |
10: 62,833,916 (GRCm39) |
L294P |
probably damaging |
Het |
Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
Slc22a30 |
G |
T |
19: 8,314,213 (GRCm39) |
T491K |
probably benign |
Het |
Slc35b3 |
T |
C |
13: 39,127,044 (GRCm39) |
N20D |
possibly damaging |
Het |
Slc5a4a |
T |
C |
10: 76,017,489 (GRCm39) |
F429L |
probably benign |
Het |
Sulf1 |
T |
C |
1: 12,887,636 (GRCm39) |
I270T |
probably damaging |
Het |
Tmem51 |
T |
C |
4: 141,759,059 (GRCm39) |
T230A |
probably damaging |
Het |
Tnc |
T |
A |
4: 63,926,947 (GRCm39) |
I860F |
probably damaging |
Het |
Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
Ttn |
T |
G |
2: 76,584,443 (GRCm39) |
T22222P |
probably damaging |
Het |
Uroc1 |
A |
T |
6: 90,338,494 (GRCm39) |
K652* |
probably null |
Het |
Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
Vmn2r120 |
A |
T |
17: 57,831,954 (GRCm39) |
F278L |
probably benign |
Het |
Vmn2r7 |
A |
G |
3: 64,627,032 (GRCm39) |
F86L |
possibly damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,315,856 (GRCm39) |
I70K |
possibly damaging |
Het |
Vps13a |
C |
T |
19: 16,722,317 (GRCm39) |
A332T |
probably benign |
Het |
Zfp568 |
T |
A |
7: 29,722,821 (GRCm39) |
C589S |
probably damaging |
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 |
|
R0419:Klhl1
|
UTSW |
14 |
96,619,225 (GRCm39) |
missense |
probably benign |
0.30 |
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 |
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 |
PCR Primer
(F):5'- CTCCACGTAGAAAAGAGTCCTGG -3'
(R):5'- TGAGCTGCAGTTCCTTGGTC -3'
Sequencing Primer
(F):5'- AAAGAGTCCTGGCGGGC -3'
(R):5'- GTCCACGGTTCATTAAGCATG -3'
|
Posted On |
2015-04-06 |