Incidental Mutation 'R4151:Klhl1'
| ID |
314917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl1
|
| Ensembl Gene |
ENSMUSG00000022076 |
| Gene Name |
kelch-like 1 |
| Synonyms |
|
| MMRRC Submission |
040861-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R4151 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
96342695-96756525 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to C
at 96755752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 1
(M1R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022666]
|
| AlphaFold |
Q9JI74 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022666
AA Change: M1R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022666
Gene: ENSMUSG00000022076
AA Change: M1R
| 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: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano10 |
C |
T |
9: 122,090,601 (GRCm39) |
W237* |
probably null |
Het |
| Armc9 |
C |
T |
1: 86,092,497 (GRCm39) |
T87M |
probably damaging |
Het |
| Astn2 |
C |
T |
4: 65,647,557 (GRCm39) |
|
probably null |
Het |
| Atxn7l1 |
G |
A |
12: 33,414,481 (GRCm39) |
V506M |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,920,914 (GRCm39) |
N36D |
probably benign |
Het |
| Cfap45 |
T |
A |
1: 172,359,788 (GRCm39) |
I96N |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,745,134 (GRCm39) |
V66D |
probably damaging |
Het |
| Dnajb6 |
C |
G |
5: 29,961,234 (GRCm39) |
L118V |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,309,485 (GRCm39) |
S44P |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,763 (GRCm39) |
H20R |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,836,254 (GRCm39) |
S695R |
possibly damaging |
Het |
| Eif3g |
T |
C |
9: 20,806,429 (GRCm39) |
D220G |
probably benign |
Het |
| Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
| Gata2 |
T |
A |
6: 88,176,620 (GRCm39) |
H26Q |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,834,056 (GRCm39) |
I434T |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,360 (GRCm39) |
E246G |
probably damaging |
Het |
| Ints10 |
T |
A |
8: 69,247,250 (GRCm39) |
|
probably null |
Het |
| Kdr |
G |
T |
5: 76,117,761 (GRCm39) |
A664E |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,881,424 (GRCm39) |
F71Y |
probably benign |
Het |
| Madd |
C |
A |
2: 90,973,428 (GRCm39) |
R1410L |
probably benign |
Het |
| Magi2 |
T |
C |
5: 19,432,290 (GRCm39) |
S2P |
probably damaging |
Het |
| Map4k3 |
T |
C |
17: 80,951,963 (GRCm39) |
K228R |
probably damaging |
Het |
| Mrpl43 |
A |
G |
19: 44,994,175 (GRCm39) |
L148P |
possibly damaging |
Het |
| Msi2 |
G |
C |
11: 88,608,870 (GRCm39) |
S16C |
probably damaging |
Het |
| Myo1e |
G |
T |
9: 70,204,633 (GRCm39) |
G78* |
probably null |
Het |
| Notch2 |
T |
C |
3: 98,054,387 (GRCm39) |
L2350S |
possibly damaging |
Het |
| Nptn |
G |
T |
9: 58,550,825 (GRCm39) |
S168I |
probably benign |
Het |
| Nsmce2 |
A |
G |
15: 59,473,214 (GRCm39) |
T244A |
probably benign |
Het |
| Or5aq6 |
C |
T |
2: 86,923,514 (GRCm39) |
V76I |
probably benign |
Het |
| Ostn |
T |
A |
16: 27,140,152 (GRCm39) |
S22T |
probably benign |
Het |
| Plekhb2 |
T |
G |
1: 34,903,564 (GRCm39) |
F102V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,634,637 (GRCm39) |
D3594G |
probably benign |
Het |
| Psmd6 |
G |
C |
14: 14,120,157 (GRCm38) |
L61V |
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,592,938 (GRCm39) |
P573S |
probably damaging |
Het |
| Rfk |
A |
C |
19: 17,372,672 (GRCm39) |
I65L |
probably benign |
Het |
| Rnf141 |
A |
T |
7: 110,436,406 (GRCm39) |
D7E |
probably benign |
Het |
| Shank2 |
A |
T |
7: 143,608,565 (GRCm39) |
K153M |
probably damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,071,359 (GRCm39) |
I31F |
probably benign |
Het |
| Slco3a1 |
G |
T |
7: 74,009,586 (GRCm39) |
A243E |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,838,847 (GRCm39) |
T73I |
probably benign |
Het |
| Sufu |
G |
A |
19: 46,438,411 (GRCm39) |
|
probably null |
Het |
| Sync |
C |
T |
4: 129,187,519 (GRCm39) |
Q184* |
probably null |
Het |
| Tnfrsf25 |
G |
T |
4: 152,204,258 (GRCm39) |
A376S |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 98,989,407 (GRCm39) |
I765N |
probably damaging |
Het |
| Ube2d2b |
A |
T |
5: 107,978,747 (GRCm39) |
K133* |
probably null |
Het |
| Ulk3 |
C |
T |
9: 57,499,650 (GRCm39) |
S217L |
possibly damaging |
Het |
| Upf2 |
C |
A |
2: 5,966,516 (GRCm39) |
Q379K |
unknown |
Het |
| Vegfc |
T |
A |
8: 54,530,824 (GRCm39) |
L4Q |
unknown |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,147 (GRCm39) |
I708N |
probably 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 |
|
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'- TTTTGAGCAGCCGACTCTGG -3'
(R):5'- TTCGATCTAGACCGGAGCTTC -3'
Sequencing Primer
(F):5'- GCTAGGACCCCAGTGCTCAAAG -3'
(R):5'- TCTGCAGAGCGCTCAAGGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation