Incidental Mutation 'R5950:Klhl1'
ID |
472409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl1
|
Ensembl Gene |
ENSMUSG00000022076 |
Gene Name |
kelch-like 1 |
Synonyms |
|
MMRRC Submission |
044140-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R5950 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96477790 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 426
(D426V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
AlphaFold |
Q9JI74 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022666
AA Change: D426V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022666 Gene: ENSMUSG00000022076 AA Change: D426V
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 |
0.1820 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
93% (75/81) |
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 |
Abca15 |
G |
A |
7: 119,981,879 (GRCm39) |
G1065R |
probably damaging |
Het |
Acox2 |
A |
T |
14: 8,255,793 (GRCm38) |
Y113N |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,365,849 (GRCm39) |
|
probably benign |
Het |
Atf6 |
C |
T |
1: 170,662,448 (GRCm39) |
G271R |
probably damaging |
Het |
Bnip5 |
T |
A |
17: 29,124,729 (GRCm39) |
Q256L |
possibly damaging |
Het |
Cct8l1 |
C |
A |
5: 25,722,741 (GRCm39) |
F485L |
probably benign |
Het |
Cdk5r2 |
A |
G |
1: 74,894,561 (GRCm39) |
E102G |
probably damaging |
Het |
Celsr1 |
A |
T |
15: 85,916,701 (GRCm39) |
V424E |
probably damaging |
Het |
Ces1h |
T |
C |
8: 94,089,587 (GRCm39) |
T271A |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,300,210 (GRCm39) |
I1738T |
probably damaging |
Het |
Cntnap3 |
G |
A |
13: 64,935,583 (GRCm39) |
L427F |
probably damaging |
Het |
Crybg3 |
T |
C |
16: 59,313,934 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
A |
G |
1: 86,948,830 (GRCm39) |
D589G |
probably damaging |
Het |
Dlg1 |
A |
G |
16: 31,484,401 (GRCm39) |
R10G |
probably damaging |
Het |
Dnajc1 |
A |
C |
2: 18,311,752 (GRCm39) |
|
probably benign |
Het |
Dpy19l2 |
T |
A |
9: 24,492,430 (GRCm39) |
T723S |
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,671,586 (GRCm39) |
N764Y |
probably damaging |
Het |
Dst |
G |
T |
1: 34,301,141 (GRCm39) |
R3654L |
probably damaging |
Het |
Dynlt5 |
T |
G |
4: 102,861,447 (GRCm39) |
L147R |
probably damaging |
Het |
Evl |
C |
T |
12: 108,641,812 (GRCm39) |
T198I |
probably benign |
Het |
Hectd2 |
A |
G |
19: 36,574,639 (GRCm39) |
|
probably benign |
Het |
Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
Igsf5 |
T |
C |
16: 96,174,072 (GRCm39) |
V34A |
probably benign |
Het |
Ikzf2 |
A |
T |
1: 69,722,403 (GRCm39) |
N41K |
probably damaging |
Het |
Kif6 |
G |
T |
17: 50,022,116 (GRCm39) |
A339S |
probably damaging |
Het |
Knop1 |
A |
C |
7: 118,452,557 (GRCm39) |
V54G |
probably damaging |
Het |
Lama4 |
T |
A |
10: 38,906,444 (GRCm39) |
V270D |
probably benign |
Het |
Lnx2 |
A |
G |
5: 146,961,160 (GRCm39) |
|
probably null |
Het |
Lrp5 |
A |
T |
19: 3,652,333 (GRCm39) |
V1179E |
probably benign |
Het |
Lrpprc |
T |
G |
17: 85,047,598 (GRCm39) |
D878A |
possibly damaging |
Het |
Lrrc14 |
A |
T |
15: 76,599,510 (GRCm39) |
|
probably benign |
Het |
Ltbp1 |
A |
T |
17: 75,580,865 (GRCm39) |
D660V |
probably damaging |
Het |
Macf1 |
C |
G |
4: 123,333,229 (GRCm39) |
|
probably null |
Het |
Map3k21 |
C |
A |
8: 126,668,499 (GRCm39) |
T695K |
possibly damaging |
Het |
Mcm3ap |
T |
A |
10: 76,324,253 (GRCm39) |
D895E |
possibly damaging |
Het |
Mink1 |
T |
A |
11: 70,500,412 (GRCm39) |
D779E |
possibly damaging |
Het |
Mkrn3 |
T |
C |
7: 62,069,467 (GRCm39) |
E108G |
probably damaging |
Het |
Mtcl3 |
T |
C |
10: 29,019,644 (GRCm39) |
|
probably benign |
Het |
Nars1 |
A |
G |
18: 64,643,556 (GRCm39) |
V141A |
possibly damaging |
Het |
Or8g34 |
T |
C |
9: 39,373,633 (GRCm39) |
V299A |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,255,690 (GRCm39) |
Y572N |
probably benign |
Het |
Pcnx3 |
A |
C |
19: 5,717,186 (GRCm39) |
M1599R |
possibly damaging |
Het |
Pitx2 |
A |
G |
3: 129,012,169 (GRCm39) |
S180G |
probably damaging |
Het |
Pkd2l1 |
A |
C |
19: 44,140,529 (GRCm39) |
V608G |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,396,361 (GRCm39) |
D1961G |
probably benign |
Het |
Pxylp1 |
T |
C |
9: 96,721,179 (GRCm39) |
T109A |
probably damaging |
Het |
Rai1 |
T |
A |
11: 60,078,419 (GRCm39) |
C828S |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,785,050 (GRCm39) |
T737S |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,640,190 (GRCm39) |
V235A |
probably damaging |
Het |
Sfxn1 |
A |
T |
13: 54,245,306 (GRCm39) |
T134S |
probably benign |
Het |
Skint1 |
A |
G |
4: 111,876,532 (GRCm39) |
Y151C |
probably benign |
Het |
Slc11a1 |
G |
T |
1: 74,416,335 (GRCm39) |
W54L |
probably benign |
Het |
Slc49a3 |
A |
T |
5: 108,593,351 (GRCm39) |
H162Q |
probably damaging |
Het |
Synpo2l |
T |
A |
14: 20,716,003 (GRCm39) |
Q191L |
probably benign |
Het |
Tank |
A |
G |
2: 61,483,913 (GRCm39) |
|
probably benign |
Het |
Terb1 |
A |
T |
8: 105,215,117 (GRCm39) |
|
probably null |
Het |
Trdc |
T |
C |
14: 54,381,768 (GRCm39) |
|
probably benign |
Het |
Tsen34 |
A |
G |
7: 3,697,787 (GRCm39) |
I63V |
probably null |
Het |
Ust |
T |
C |
10: 8,123,865 (GRCm39) |
H257R |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,472,652 (GRCm39) |
Q23R |
probably benign |
Het |
Wdr93 |
A |
T |
7: 79,423,179 (GRCm39) |
H481L |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,341,664 (GRCm39) |
T1302A |
possibly damaging |
Het |
Zc3h6 |
C |
A |
2: 128,839,710 (GRCm39) |
Y174* |
probably null |
Het |
Zcchc7 |
T |
G |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
Zfp472 |
T |
A |
17: 33,196,481 (GRCm39) |
H185Q |
possibly damaging |
Het |
Zfp523 |
C |
A |
17: 28,421,532 (GRCm39) |
P66H |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,192,881 (GRCm39) |
L57Q |
probably damaging |
Het |
Zik1 |
G |
A |
7: 10,224,498 (GRCm39) |
Q200* |
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 |
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 |
|
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'- ATGGGTTAATGGAGATCTAGAGTCAC -3'
(R):5'- ATGTCAAGACTTTTAGGTTCACCC -3'
Sequencing Primer
(F):5'- GGAGATCTAGAGTCACATACCTTTG -3'
(R):5'- GTTTATTAACTGCAACAATCCCCC -3'
|
Posted On |
2017-03-31 |