Incidental Mutation 'R7195:Klhl1'
| ID |
559882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl1
|
| Ensembl Gene |
ENSMUSG00000022076 |
| Gene Name |
kelch-like 1 |
| Synonyms |
|
| MMRRC Submission |
045336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R7195 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96517513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 388
(Y388N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
| AlphaFold |
Q9JI74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022666
AA Change: Y388N
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: Y388N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
C |
11: 58,179,242 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,332,088 (GRCm39) |
D1400G |
probably benign |
Het |
| Actl11 |
A |
T |
9: 107,806,069 (GRCm39) |
K131* |
probably null |
Het |
| Adam39 |
A |
T |
8: 41,277,812 (GRCm39) |
R68* |
probably null |
Het |
| Akap7 |
A |
T |
10: 25,147,405 (GRCm39) |
N108K |
probably damaging |
Het |
| Arhgef10l |
C |
A |
4: 140,338,721 (GRCm39) |
A14S |
probably benign |
Het |
| Ccdc141 |
T |
G |
2: 76,879,927 (GRCm39) |
N632T |
probably benign |
Het |
| Ccm2 |
T |
C |
11: 6,546,302 (GRCm39) |
S435P |
probably damaging |
Het |
| Cd36 |
A |
G |
5: 18,019,187 (GRCm39) |
L178P |
probably damaging |
Het |
| Cd7 |
T |
C |
11: 120,929,075 (GRCm39) |
I59V |
probably benign |
Het |
| Cds2 |
T |
A |
2: 132,135,204 (GRCm39) |
S32T |
probably benign |
Het |
| Cep19 |
A |
G |
16: 31,925,904 (GRCm39) |
D104G |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,510,753 (GRCm39) |
P68S |
unknown |
Het |
| Col20a1 |
A |
G |
2: 180,649,024 (GRCm39) |
H1011R |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,504,463 (GRCm39) |
D1864V |
|
Het |
| D7Ertd443e |
A |
G |
7: 133,896,851 (GRCm39) |
V513A |
probably damaging |
Het |
| Egfr |
C |
T |
11: 16,818,162 (GRCm39) |
P228L |
probably damaging |
Het |
| Fam243 |
C |
T |
16: 92,118,037 (GRCm39) |
V84M |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,131 (GRCm39) |
R97G |
probably damaging |
Het |
| Flt1 |
C |
T |
5: 147,540,386 (GRCm39) |
V768M |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,288,050 (GRCm39) |
N96Y |
probably damaging |
Het |
| Gm7168 |
T |
A |
17: 14,169,622 (GRCm39) |
Y330N |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,424,203 (GRCm39) |
N683S |
unknown |
Het |
| Ice2 |
C |
T |
9: 69,335,782 (GRCm39) |
P922S |
possibly damaging |
Het |
| Iglv2 |
A |
G |
16: 19,079,260 (GRCm39) |
V81A |
not run |
Het |
| Irs1 |
A |
G |
1: 82,265,177 (GRCm39) |
I1013T |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,621,432 (GRCm39) |
S832P |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,348,601 (GRCm39) |
S2698L |
unknown |
Het |
| Map4k4 |
T |
C |
1: 40,058,829 (GRCm39) |
Y1008H |
possibly damaging |
Het |
| Mdn1 |
G |
T |
4: 32,701,823 (GRCm39) |
G1519W |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,809 (GRCm39) |
D653E |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,208,733 (GRCm39) |
E48G |
probably damaging |
Het |
| Nup188 |
G |
A |
2: 30,231,842 (GRCm39) |
|
probably null |
Het |
| Or1p1b |
G |
T |
11: 74,130,394 (GRCm39) |
M1I |
probably null |
Het |
| Or3a4 |
T |
A |
11: 73,945,223 (GRCm39) |
M121L |
probably damaging |
Het |
| Or4c110 |
G |
A |
2: 88,832,075 (GRCm39) |
L186F |
|
Het |
| Or51a39 |
A |
G |
7: 102,362,873 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or55b4 |
A |
T |
7: 102,133,574 (GRCm39) |
V251D |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,123,840 (GRCm39) |
N65S |
probably damaging |
Het |
| Oxct1 |
T |
C |
15: 4,158,383 (GRCm39) |
V439A |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,341 (GRCm39) |
G13W |
probably damaging |
Het |
| Pex11g |
A |
G |
8: 3,509,237 (GRCm39) |
V230A |
probably benign |
Het |
| Pop1 |
C |
T |
15: 34,510,525 (GRCm39) |
S439L |
probably damaging |
Het |
| Ptpn9 |
T |
A |
9: 56,929,533 (GRCm39) |
H83Q |
probably benign |
Het |
| Qrfp |
C |
T |
2: 31,698,704 (GRCm39) |
R76H |
probably benign |
Het |
| Slc30a3 |
A |
G |
5: 31,246,139 (GRCm39) |
V197A |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,047 (GRCm39) |
N591D |
possibly damaging |
Het |
| Sp4 |
G |
T |
12: 118,263,807 (GRCm39) |
Q80K |
possibly damaging |
Het |
| Spock1 |
C |
T |
13: 58,055,316 (GRCm39) |
G29D |
possibly damaging |
Het |
| Sprr1a |
G |
T |
3: 92,391,674 (GRCm39) |
P109Q |
probably damaging |
Het |
| Suz12 |
T |
A |
11: 79,904,309 (GRCm39) |
F239L |
probably damaging |
Het |
| Tbx3 |
A |
G |
5: 119,813,648 (GRCm39) |
Y248C |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,266,637 (GRCm39) |
L217P |
probably damaging |
Het |
| Ubxn11 |
A |
C |
4: 133,853,726 (GRCm39) |
I398L |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,884 (GRCm39) |
S40T |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,023,900 (GRCm39) |
S894G |
probably benign |
Het |
| Vmn2r65 |
A |
G |
7: 84,592,347 (GRCm39) |
|
probably null |
Het |
| Vps13c |
G |
A |
9: 67,853,107 (GRCm39) |
G2400D |
possibly damaging |
Het |
| Vps8 |
T |
C |
16: 21,275,032 (GRCm39) |
Y197H |
probably damaging |
Het |
| Wdr91 |
T |
C |
6: 34,866,209 (GRCm39) |
N486D |
possibly damaging |
Het |
| Wwp1 |
A |
G |
4: 19,627,908 (GRCm39) |
I695T |
possibly damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,382,547 (GRCm39) |
D133G |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,335,200 (GRCm39) |
I307V |
unknown |
Het |
| Zfp933 |
G |
A |
4: 147,910,636 (GRCm39) |
T320I |
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 |
|
|
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 |
|
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 |
|
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'- AGATCTATGATCCTTCACCCATAAC -3'
(R):5'- TTTCTCTGAGATGCTTTGCCAG -3'
Sequencing Primer
(F):5'- ACCTCATTAAACTCAGAAAATGCTG -3'
(R):5'- TTTGCCAGCTACACAGGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation