Incidental Mutation 'R4502:Klhl1'
| ID |
331874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl1
|
| Ensembl Gene |
ENSMUSG00000022076 |
| Gene Name |
kelch-like 1 |
| Synonyms |
|
| MMRRC Submission |
041754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R4502 (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 96755282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 158
(S158P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
| AlphaFold |
Q9JI74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022666
AA Change: S158P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: S158P
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
A |
C |
3: 20,369,962 (GRCm39) |
Y215D |
probably damaging |
Het |
| Arf5 |
T |
C |
6: 28,425,775 (GRCm39) |
V123A |
possibly damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
G |
9: 53,407,246 (GRCm39) |
V1164A |
possibly damaging |
Het |
| Atp6v0d1 |
A |
G |
8: 106,292,430 (GRCm39) |
C39R |
probably damaging |
Het |
| Bmp8a |
T |
A |
4: 123,236,192 (GRCm39) |
S104C |
probably damaging |
Het |
| Cand1 |
T |
C |
10: 119,052,572 (GRCm39) |
T185A |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,560 (GRCm39) |
E1284G |
probably damaging |
Het |
| Chodl |
A |
G |
16: 78,728,332 (GRCm39) |
S26G |
possibly damaging |
Het |
| Cic |
C |
T |
7: 24,987,892 (GRCm39) |
P620S |
probably damaging |
Het |
| Col3a1 |
T |
C |
1: 45,387,837 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
G |
T |
3: 118,591,186 (GRCm39) |
G225C |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,286,772 (GRCm39) |
V5560M |
probably damaging |
Het |
| Eea1 |
G |
A |
10: 95,875,427 (GRCm39) |
E1233K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,245,740 (GRCm39) |
D1139G |
probably damaging |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Hc |
T |
C |
2: 34,896,264 (GRCm39) |
D1173G |
probably benign |
Het |
| Htr2a |
T |
A |
14: 74,879,428 (GRCm39) |
M19K |
probably benign |
Het |
| Kank4 |
G |
A |
4: 98,665,335 (GRCm39) |
S653L |
possibly damaging |
Het |
| Kcnt2 |
G |
T |
1: 140,435,485 (GRCm39) |
C484F |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Ldb2 |
T |
C |
5: 44,826,749 (GRCm39) |
D62G |
probably damaging |
Het |
| Ldhb |
T |
C |
6: 142,436,183 (GRCm39) |
K329E |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
| Or2p2 |
A |
T |
13: 21,256,916 (GRCm39) |
I185N |
probably damaging |
Het |
| Or5k15 |
T |
C |
16: 58,710,539 (GRCm39) |
I15V |
probably benign |
Het |
| Or6aa1 |
T |
A |
7: 86,044,485 (GRCm39) |
T74S |
possibly damaging |
Het |
| Pi4kb |
T |
A |
3: 94,903,918 (GRCm39) |
H501Q |
probably benign |
Het |
| Ppargc1b |
T |
C |
18: 61,435,750 (GRCm39) |
K910R |
probably benign |
Het |
| Ppp1r12a |
G |
T |
10: 108,085,339 (GRCm39) |
R428I |
probably benign |
Het |
| Rbbp8nl |
G |
T |
2: 179,920,989 (GRCm39) |
T465N |
possibly damaging |
Het |
| Rpl5 |
T |
C |
5: 108,052,723 (GRCm39) |
F223S |
possibly damaging |
Het |
| Scpep1 |
T |
C |
11: 88,835,211 (GRCm39) |
K154R |
probably benign |
Het |
| Sil1 |
T |
C |
18: 35,450,928 (GRCm39) |
Y249C |
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,067,964 (GRCm39) |
L1017Q |
probably damaging |
Het |
| Slc2a9 |
T |
C |
5: 38,556,154 (GRCm39) |
N264S |
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,539,787 (GRCm39) |
M345V |
probably benign |
Het |
| Tdrd5 |
T |
A |
1: 156,128,334 (GRCm39) |
M141L |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,960,259 (GRCm39) |
C182R |
probably damaging |
Het |
| Thap4 |
T |
C |
1: 93,678,709 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,864,560 (GRCm39) |
T558A |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,892,991 (GRCm39) |
R973* |
probably null |
Het |
| Ulk3 |
A |
G |
9: 57,500,512 (GRCm39) |
Y307C |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,912,284 (GRCm39) |
L1001P |
probably damaging |
Het |
| Vmn2r80 |
A |
T |
10: 78,984,764 (GRCm39) |
T39S |
probably benign |
Het |
| Vps33b |
G |
A |
7: 79,937,655 (GRCm39) |
A468T |
possibly damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,363 (GRCm39) |
S130P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,655,079 (GRCm39) |
E730G |
probably benign |
Het |
| Zfp689 |
C |
A |
7: 127,047,925 (GRCm39) |
V36L |
probably benign |
Het |
| Zfp938 |
A |
G |
10: 82,062,105 (GRCm39) |
S172P |
possibly 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 |
|
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 |
|
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'- AGTGCATGTTTGAGCCAATGG -3'
(R):5'- TACTACCAGTTGCCACGAGG -3'
Sequencing Primer
(F):5'- GTTTGAGCCAATGGAAATTAATGAGC -3'
(R):5'- CACGAGGCTGCAGCAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation