Incidental Mutation 'R3872:Klhl1'
| ID |
276637 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl1
|
| Ensembl Gene |
ENSMUSG00000022076 |
| Gene Name |
kelch-like 1 |
| Synonyms |
|
| MMRRC Submission |
040790-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R3872 (G1)
|
| Quality Score |
209 |
|
Status
|
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: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (61/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,045 (GRCm39) |
E1117G |
possibly damaging |
Het |
| Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
| Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
| Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
| Bhmt-ps1 |
T |
C |
4: 26,369,201 (GRCm39) |
|
noncoding transcript |
Het |
| Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
| Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
| Cic |
T |
C |
7: 24,971,124 (GRCm39) |
V285A |
possibly damaging |
Het |
| Col19a1 |
A |
G |
1: 24,614,408 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,890,858 (GRCm39) |
N1812S |
possibly damaging |
Het |
| Cry1 |
T |
C |
10: 84,969,024 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
T |
C |
2: 156,591,267 (GRCm39) |
S818P |
probably benign |
Het |
| Dlx5 |
G |
T |
6: 6,878,209 (GRCm39) |
P274T |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,411,656 (GRCm39) |
K3675R |
possibly damaging |
Het |
| Dpp6 |
A |
G |
5: 27,926,056 (GRCm39) |
Y710C |
probably damaging |
Het |
| Dsc3 |
C |
A |
18: 20,104,565 (GRCm39) |
K587N |
probably damaging |
Het |
| Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
| Epcam |
C |
A |
17: 87,947,354 (GRCm39) |
T36K |
possibly damaging |
Het |
| Epha2 |
T |
C |
4: 141,035,716 (GRCm39) |
W51R |
probably damaging |
Het |
| Eya4 |
A |
T |
10: 23,031,870 (GRCm39) |
I251N |
probably damaging |
Het |
| Fbxo21 |
G |
A |
5: 118,138,394 (GRCm39) |
V447I |
possibly damaging |
Het |
| Firrm |
A |
T |
1: 163,814,533 (GRCm39) |
S137T |
probably damaging |
Het |
| Frg2f1 |
T |
A |
4: 119,388,155 (GRCm39) |
T115S |
possibly damaging |
Het |
| Hecw2 |
A |
T |
1: 53,871,916 (GRCm39) |
|
probably benign |
Het |
| Igfals |
G |
A |
17: 25,100,579 (GRCm39) |
V557I |
possibly damaging |
Het |
| Iqca1 |
A |
T |
1: 90,017,203 (GRCm39) |
Y411N |
probably damaging |
Het |
| Itpa |
T |
G |
2: 130,522,930 (GRCm39) |
S176A |
probably damaging |
Het |
| Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,932,243 (GRCm39) |
H27R |
probably benign |
Het |
| Mia3 |
T |
C |
1: 183,138,342 (GRCm39) |
E791G |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,954,543 (GRCm39) |
K669* |
probably null |
Het |
| Msmo1 |
C |
T |
8: 65,175,497 (GRCm39) |
|
probably null |
Het |
| Muc6 |
T |
C |
7: 141,226,867 (GRCm39) |
T1387A |
probably benign |
Het |
| Myo1g |
C |
T |
11: 6,464,886 (GRCm39) |
V463I |
possibly damaging |
Het |
| Or12d12 |
T |
A |
17: 37,610,870 (GRCm39) |
T148S |
probably benign |
Het |
| Or4f6 |
T |
C |
2: 111,838,668 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or5l13 |
T |
A |
2: 87,779,874 (GRCm39) |
R234S |
probably damaging |
Het |
| Pde10a |
C |
A |
17: 8,975,923 (GRCm39) |
T16K |
possibly damaging |
Het |
| Pfas |
T |
C |
11: 68,891,089 (GRCm39) |
T310A |
probably damaging |
Het |
| Phb2 |
G |
A |
6: 124,693,394 (GRCm39) |
|
probably null |
Het |
| Plin3 |
A |
G |
17: 56,591,181 (GRCm39) |
S200P |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,309,674 (GRCm39) |
E1087* |
probably null |
Het |
| Rnf17 |
G |
T |
14: 56,712,870 (GRCm39) |
R779L |
possibly damaging |
Het |
| Sacs |
C |
T |
14: 61,385,517 (GRCm39) |
T6M |
probably benign |
Het |
| Scfd1 |
A |
G |
12: 51,438,979 (GRCm39) |
Y147C |
probably damaging |
Het |
| Septin1 |
T |
C |
7: 126,814,447 (GRCm39) |
|
probably benign |
Het |
| Septin5 |
A |
G |
16: 18,441,723 (GRCm39) |
L344P |
probably damaging |
Het |
| Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,898,006 (GRCm39) |
D139G |
possibly damaging |
Het |
| Sod3 |
A |
G |
5: 52,525,631 (GRCm39) |
Y110C |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,652,495 (GRCm39) |
V332A |
possibly damaging |
Het |
| Tacc2 |
C |
T |
7: 130,224,152 (GRCm39) |
T279M |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,875,393 (GRCm39) |
E187G |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,727,360 (GRCm39) |
Y48* |
probably null |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r60 |
C |
T |
7: 41,785,878 (GRCm39) |
S227L |
probably benign |
Het |
| Vps33a |
C |
T |
5: 123,669,255 (GRCm39) |
V549I |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,298,868 (GRCm39) |
Y449* |
probably null |
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 |
|
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 |
PCR Primer
(F):5'- GGACTCCACGTAGAAAAGAGTCC -3'
(R):5'- TGAGCTGCAGTTCCTTGGTC -3'
Sequencing Primer
(F):5'- CACGTAGAAAAGAGTCCTGGCG -3'
(R):5'- GTCCACGGTTCATTAAGCATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation