Incidental Mutation 'R6454:Klhl1'
| ID |
519499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl1
|
| Ensembl Gene |
ENSMUSG00000022076 |
| Gene Name |
kelch-like 1 |
| Synonyms |
|
| MMRRC Submission |
044590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R6454 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96517527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 383
(M383K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
| AlphaFold |
Q9JI74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022666
AA Change: M383K
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: M383K
| 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 |
0.6410 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
G |
T |
8: 44,079,845 (GRCm39) |
N126K |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,270,294 (GRCm39) |
T1469I |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,290 (GRCm39) |
T93A |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,245,948 (GRCm39) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,035,952 (GRCm39) |
I1405F |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,403 (GRCm39) |
S100P |
probably damaging |
Het |
| Creld2 |
T |
A |
15: 88,707,274 (GRCm39) |
C197* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 15,971,150 (GRCm39) |
F3055Y |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,880,590 (GRCm39) |
E3843D |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,611,270 (GRCm39) |
S3799P |
probably damaging |
Het |
| Dpp9 |
A |
T |
17: 56,513,808 (GRCm39) |
L102Q |
probably damaging |
Het |
| Eipr1 |
T |
G |
12: 28,914,761 (GRCm39) |
I305S |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Faf1 |
G |
T |
4: 109,699,531 (GRCm39) |
A359S |
probably benign |
Het |
| Fam13b |
A |
G |
18: 34,590,715 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,638,015 (GRCm39) |
N363I |
probably damaging |
Het |
| Grm8 |
T |
G |
6: 27,363,775 (GRCm39) |
H580P |
possibly damaging |
Het |
| Itih5 |
T |
C |
2: 10,245,479 (GRCm39) |
F523L |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,759,557 (GRCm39) |
T38S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,241,191 (GRCm39) |
M856K |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nlrp9c |
G |
A |
7: 26,085,199 (GRCm39) |
R127C |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,044,722 (GRCm39) |
I1548T |
possibly damaging |
Het |
| Nphs2 |
T |
A |
1: 156,146,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,863,136 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
G |
6: 96,142,609 (GRCm39) |
H145P |
possibly damaging |
Het |
| Odf2l |
C |
A |
3: 144,859,181 (GRCm39) |
Q517K |
possibly damaging |
Het |
| Omd |
A |
T |
13: 49,743,345 (GRCm39) |
I132F |
probably damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,130 (GRCm39) |
*312Q |
probably null |
Het |
| Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,395 (GRCm39) |
N93Y |
probably benign |
Het |
| Or9g19 |
A |
G |
2: 85,600,717 (GRCm39) |
K191E |
probably benign |
Het |
| Otog |
A |
G |
7: 45,955,241 (GRCm39) |
N544D |
probably damaging |
Het |
| Ovol3 |
A |
G |
7: 29,934,800 (GRCm39) |
Y29H |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,515,353 (GRCm39) |
K97E |
possibly damaging |
Het |
| Pcdhb19 |
G |
T |
18: 37,632,322 (GRCm39) |
V706L |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,268,208 (GRCm39) |
R588C |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,587,986 (GRCm39) |
V1062L |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,827 (GRCm39) |
F127L |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,220,456 (GRCm39) |
I476F |
probably damaging |
Het |
| Rnf5 |
A |
C |
17: 34,821,283 (GRCm39) |
C47W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,538,910 (GRCm39) |
M517K |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,948,796 (GRCm39) |
T188M |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,041 (GRCm39) |
T40A |
possibly damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,431 (GRCm39) |
I77F |
probably damaging |
Het |
| Spem2 |
A |
G |
11: 69,708,254 (GRCm39) |
L237P |
probably damaging |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Tent5b |
A |
G |
4: 133,207,720 (GRCm39) |
D37G |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,938 (GRCm39) |
T749S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,533,866 (GRCm39) |
K2291E |
probably damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,525,801 (GRCm39) |
M294V |
probably damaging |
Het |
| Tmem35b |
T |
C |
4: 127,022,811 (GRCm39) |
*138R |
probably null |
Het |
| Tpst1 |
A |
G |
5: 130,130,892 (GRCm39) |
K121E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,261 (GRCm39) |
V51D |
possibly damaging |
Het |
| Tshr |
C |
A |
12: 91,505,323 (GRCm39) |
Q754K |
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,723,023 (GRCm39) |
M157K |
probably damaging |
Het |
| Ube2g2 |
T |
G |
10: 77,470,580 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
T |
G |
5: 87,388,836 (GRCm39) |
D459A |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,960,851 (GRCm39) |
Y858* |
probably null |
Het |
| Usp35 |
A |
T |
7: 96,960,767 (GRCm39) |
N886K |
probably damaging |
Het |
| Wdr33 |
T |
C |
18: 31,963,028 (GRCm39) |
V125A |
possibly damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,986,310 (GRCm39) |
T506I |
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 |
|
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 |
|
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'- GAGATTTAGATCTATGATCCTTCACCC -3'
(R):5'- TTTGCCAGCTACACAGGAG -3'
Sequencing Primer
(F):5'- TAGATCTATGATCCTTCACCCATAAC -3'
(R):5'- CAGGAGTGAATTTATGCCAAGATC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation