Incidental Mutation 'R3951:Klhl29'
| ID |
307956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl29
|
| Ensembl Gene |
ENSMUSG00000020627 |
| Gene Name |
kelch-like 29 |
| Synonyms |
Kbtbd9, A230106N14Rik |
| MMRRC Submission |
040828-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R3951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
5127472-5425682 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5190660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 112
(S112C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020958]
[ENSMUST00000218384]
|
| AlphaFold |
Q80T74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020958
AA Change: S112C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020958
Gene: ENSMUSG00000020627
AA Change: S112C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
50 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
205 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
280 |
N/A |
INTRINSIC |
|
BTB
|
329 |
431 |
2.07e-22 |
SMART |
|
BACK
|
436 |
538 |
4.88e-32 |
SMART |
|
Kelch
|
585 |
636 |
5.33e0 |
SMART |
|
Kelch
|
637 |
683 |
5.42e-5 |
SMART |
|
Kelch
|
684 |
730 |
5.42e-5 |
SMART |
|
Kelch
|
731 |
778 |
5.44e-1 |
SMART |
|
Kelch
|
779 |
821 |
2.54e-1 |
SMART |
|
Kelch
|
822 |
870 |
4.01e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218384
AA Change: S112C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.2744 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
All alleles(5) : Targeted, other(2) Gene trapped(3) |
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
C |
10: 100,451,158 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
T |
C |
2: 68,494,747 (GRCm39) |
|
probably null |
Het |
| Akr1c18 |
C |
T |
13: 4,185,284 (GRCm39) |
V283I |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,792 (GRCm39) |
M861L |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,493,105 (GRCm39) |
Y3C |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,470,172 (GRCm39) |
E814G |
probably damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,913,914 (GRCm39) |
Q97R |
probably benign |
Het |
| Dera |
A |
G |
6: 137,814,118 (GRCm39) |
Y100C |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,184,269 (GRCm39) |
D517E |
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,376,353 (GRCm39) |
Y509N |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
| Fkbp8 |
T |
A |
8: 70,985,311 (GRCm39) |
L275Q |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,708 (GRCm39) |
Y510C |
probably damaging |
Het |
| Gda |
T |
C |
19: 21,449,809 (GRCm39) |
T16A |
probably benign |
Het |
| Ggcx |
G |
A |
6: 72,403,541 (GRCm39) |
G363R |
probably benign |
Het |
| Gm527 |
T |
G |
12: 64,970,276 (GRCm39) |
|
probably benign |
Het |
| Hoxb2 |
A |
G |
11: 96,244,001 (GRCm39) |
E204G |
probably damaging |
Het |
| Hsd17b11 |
G |
A |
5: 104,140,803 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,249,249 (GRCm39) |
|
probably benign |
Het |
| Kif16b |
C |
T |
2: 142,549,279 (GRCm39) |
V1079I |
probably benign |
Het |
| Lpcat2 |
G |
T |
8: 93,591,531 (GRCm39) |
M58I |
probably benign |
Het |
| Lrrc8d |
G |
T |
5: 105,962,142 (GRCm39) |
V851F |
probably benign |
Het |
| Ltbp3 |
T |
C |
19: 5,806,029 (GRCm39) |
V929A |
probably damaging |
Het |
| Map3k20 |
T |
G |
2: 72,268,644 (GRCm39) |
I550M |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,769,295 (GRCm39) |
M941V |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,134,556 (GRCm39) |
Y453F |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,163,747 (GRCm39) |
K78E |
probably damaging |
Het |
| Ncor2 |
G |
T |
5: 125,109,320 (GRCm39) |
D1496E |
possibly damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,125 (GRCm39) |
Y135H |
possibly damaging |
Het |
| Ndst1 |
T |
C |
18: 60,830,211 (GRCm39) |
N633S |
probably benign |
Het |
| Nmur2 |
G |
C |
11: 55,931,051 (GRCm39) |
P220R |
probably damaging |
Het |
| Nsd1 |
G |
C |
13: 55,416,267 (GRCm39) |
E1438Q |
probably benign |
Het |
| Or5al7 |
G |
T |
2: 85,992,962 (GRCm39) |
C110* |
probably null |
Het |
| Or5w10 |
T |
C |
2: 87,375,409 (GRCm39) |
T160A |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,822,021 (GRCm39) |
R307S |
probably benign |
Het |
| Or9s23 |
T |
A |
1: 92,501,511 (GRCm39) |
M206K |
possibly damaging |
Het |
| Pom121l2 |
T |
G |
13: 22,166,298 (GRCm39) |
S190A |
probably damaging |
Het |
| Prb1b |
G |
A |
6: 132,289,657 (GRCm39) |
P56S |
unknown |
Het |
| Rtn4ip1 |
T |
A |
10: 43,785,893 (GRCm39) |
|
probably null |
Het |
| Scarb1 |
A |
C |
5: 125,364,475 (GRCm39) |
C85G |
probably damaging |
Het |
| Sh2d4b |
A |
G |
14: 40,594,503 (GRCm39) |
I159T |
probably damaging |
Het |
| Skic3 |
T |
G |
13: 76,278,338 (GRCm39) |
L551V |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,853,125 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
G |
A |
17: 80,731,610 (GRCm39) |
T630I |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,635,732 (GRCm39) |
D517E |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,993 (GRCm39) |
T328A |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,331,817 (GRCm39) |
L776S |
probably damaging |
Het |
| Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
| Tubb3 |
C |
A |
8: 124,148,003 (GRCm39) |
T312N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,405 (GRCm39) |
V277M |
probably damaging |
Het |
| Uhrf2 |
G |
A |
19: 30,057,261 (GRCm39) |
R473Q |
probably damaging |
Het |
| Vmn2r43 |
T |
A |
7: 8,258,319 (GRCm39) |
H298L |
probably benign |
Het |
|
| Other mutations in Klhl29 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Klhl29
|
APN |
12 |
5,190,705 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02639:Klhl29
|
APN |
12 |
5,187,453 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03142:Klhl29
|
APN |
12 |
5,187,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bauxite
|
UTSW |
12 |
5,141,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Kerosene
|
UTSW |
12 |
5,141,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Mineral
|
UTSW |
12 |
5,133,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
tungsten
|
UTSW |
12 |
5,140,995 (GRCm39) |
nonsense |
probably null |
|
|
N/A - 535:Klhl29
|
UTSW |
12 |
5,134,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Klhl29
|
UTSW |
12 |
5,134,354 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0622:Klhl29
|
UTSW |
12 |
5,131,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Klhl29
|
UTSW |
12 |
5,144,883 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0784:Klhl29
|
UTSW |
12 |
5,131,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1157:Klhl29
|
UTSW |
12 |
5,140,650 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1521:Klhl29
|
UTSW |
12 |
5,141,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1535:Klhl29
|
UTSW |
12 |
5,134,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Klhl29
|
UTSW |
12 |
5,143,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Klhl29
|
UTSW |
12 |
5,187,876 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2568:Klhl29
|
UTSW |
12 |
5,141,350 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2883:Klhl29
|
UTSW |
12 |
5,134,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Klhl29
|
UTSW |
12 |
5,140,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5031:Klhl29
|
UTSW |
12 |
5,141,334 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5078:Klhl29
|
UTSW |
12 |
5,143,530 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5410:Klhl29
|
UTSW |
12 |
5,141,366 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5619:Klhl29
|
UTSW |
12 |
5,190,587 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5681:Klhl29
|
UTSW |
12 |
5,140,669 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6028:Klhl29
|
UTSW |
12 |
5,140,995 (GRCm39) |
nonsense |
probably null |
|
|
R6294:Klhl29
|
UTSW |
12 |
5,133,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6394:Klhl29
|
UTSW |
12 |
5,187,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6394:Klhl29
|
UTSW |
12 |
5,144,830 (GRCm39) |
nonsense |
probably null |
|
|
R6475:Klhl29
|
UTSW |
12 |
5,141,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6737:Klhl29
|
UTSW |
12 |
5,260,124 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6781:Klhl29
|
UTSW |
12 |
5,141,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6788:Klhl29
|
UTSW |
12 |
5,134,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7741:Klhl29
|
UTSW |
12 |
5,187,500 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8709:Klhl29
|
UTSW |
12 |
5,140,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Klhl29
|
UTSW |
12 |
5,187,542 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8888:Klhl29
|
UTSW |
12 |
5,187,542 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8954:Klhl29
|
UTSW |
12 |
5,187,542 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8971:Klhl29
|
UTSW |
12 |
5,190,710 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9031:Klhl29
|
UTSW |
12 |
5,140,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9066:Klhl29
|
UTSW |
12 |
5,260,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9432:Klhl29
|
UTSW |
12 |
5,260,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Klhl29
|
UTSW |
12 |
5,190,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9733:Klhl29
|
UTSW |
12 |
5,190,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Klhl29
|
UTSW |
12 |
5,131,152 (GRCm39) |
makesense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTCTGCAGACTCATGGGTC -3'
(R):5'- TGGATACAGGCACTCTTGTG -3'
Sequencing Primer
(F):5'- ACTCATGGGTCAGGGCCTCTAG -3'
(R):5'- CACTCTTGTGCTCTCTCTCTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation