Incidental Mutation 'R5316:Klhl7'
| ID |
405821 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl7
|
| Ensembl Gene |
ENSMUSG00000028986 |
| Gene Name |
kelch-like 7 |
| Synonyms |
SBBI26, Klhl6, 2700038B03Rik, D5Ertd363e |
| MMRRC Submission |
042899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.590)
|
| Stock # |
R5316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24305603-24365790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24332748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 102
(A102V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030841]
[ENSMUST00000163409]
[ENSMUST00000200116]
|
| AlphaFold |
Q8BUL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030841
AA Change: A102V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000030841
Gene: ENSMUSG00000028986
AA Change: A102V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
|
BTB
|
44 |
141 |
7.49e-29 |
SMART |
|
BACK
|
146 |
248 |
8.42e-36 |
SMART |
|
Kelch
|
337 |
382 |
7.5e0 |
SMART |
|
Kelch
|
383 |
430 |
1.97e-7 |
SMART |
|
Kelch
|
431 |
481 |
2.25e-11 |
SMART |
|
Kelch
|
482 |
528 |
4.4e-5 |
SMART |
|
Blast:Kelch
|
529 |
576 |
1e-25 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163409
AA Change: A102V
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129461
Gene: ENSMUSG00000028986
AA Change: A102V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
|
BTB
|
44 |
141 |
7.49e-29 |
SMART |
|
BACK
|
146 |
248 |
8.42e-36 |
SMART |
|
Kelch
|
337 |
382 |
7.5e0 |
SMART |
|
Kelch
|
383 |
430 |
1.97e-7 |
SMART |
|
Kelch
|
431 |
470 |
4.1e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199530
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200116
AA Change: A102V
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143000
Gene: ENSMUSG00000028986
AA Change: A102V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
|
BTB
|
44 |
141 |
4.7e-31 |
SMART |
|
BACK
|
146 |
248 |
6.3e-40 |
SMART |
|
Pfam:Kelch_1
|
325 |
365 |
2.4e-4 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
| Agap2 |
G |
A |
10: 126,918,296 (GRCm39) |
|
probably null |
Het |
| Apol10a |
A |
G |
15: 77,372,729 (GRCm39) |
T122A |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,895,750 (GRCm39) |
A458D |
possibly damaging |
Het |
| Cd80 |
C |
T |
16: 38,294,239 (GRCm39) |
Q41* |
probably null |
Het |
| Cmss1 |
T |
G |
16: 57,122,638 (GRCm39) |
K252T |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,255,779 (GRCm39) |
D122G |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,096,598 (GRCm39) |
D841V |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,262,929 (GRCm39) |
Q4549K |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,967,286 (GRCm39) |
I5275M |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,775,083 (GRCm39) |
L711P |
probably damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,867,385 (GRCm39) |
N78I |
probably damaging |
Het |
| H1f1 |
C |
T |
13: 23,948,085 (GRCm39) |
|
probably benign |
Het |
| Htra3 |
T |
C |
5: 35,821,420 (GRCm39) |
D319G |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,161,750 (GRCm39) |
Y304C |
probably damaging |
Het |
| Kat2a |
G |
T |
11: 100,602,996 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Lamb3 |
A |
G |
1: 193,012,501 (GRCm39) |
H426R |
probably benign |
Het |
| Lemd3 |
C |
A |
10: 120,788,161 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
A |
C |
10: 76,306,760 (GRCm39) |
D291A |
possibly damaging |
Het |
| Micos13 |
G |
A |
17: 56,916,649 (GRCm39) |
S7L |
possibly damaging |
Het |
| Mme |
C |
G |
3: 63,276,375 (GRCm39) |
F717L |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,169,806 (GRCm39) |
K171* |
probably null |
Het |
| Naip6 |
T |
C |
13: 100,420,290 (GRCm39) |
N1327D |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,981 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,383,670 (GRCm39) |
M480K |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,110,984 (GRCm39) |
L33Q |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,641,067 (GRCm39) |
V496E |
probably damaging |
Het |
| Rbms2 |
G |
A |
10: 127,981,606 (GRCm39) |
P81L |
probably damaging |
Het |
| Scara5 |
T |
C |
14: 65,927,264 (GRCm39) |
S54P |
possibly damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,184,814 (GRCm39) |
D523G |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,813 (GRCm39) |
A747S |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,998,296 (GRCm39) |
D1075N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,193,992 (GRCm39) |
D1064G |
possibly damaging |
Het |
| Vat1l |
G |
A |
8: 115,011,088 (GRCm39) |
V279I |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,410 (GRCm39) |
K156E |
probably damaging |
Het |
|
| Other mutations in Klhl7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02135:Klhl7
|
APN |
5 |
24,346,279 (GRCm39) |
nonsense |
probably null |
|
|
IGL03149:Klhl7
|
APN |
5 |
24,364,687 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0433:Klhl7
|
UTSW |
5 |
24,332,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1301:Klhl7
|
UTSW |
5 |
24,364,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Klhl7
|
UTSW |
5 |
24,354,108 (GRCm39) |
splice site |
probably null |
|
|
R2143:Klhl7
|
UTSW |
5 |
24,305,861 (GRCm39) |
missense |
probably benign |
|
|
R2144:Klhl7
|
UTSW |
5 |
24,305,861 (GRCm39) |
missense |
probably benign |
|
|
R2145:Klhl7
|
UTSW |
5 |
24,305,861 (GRCm39) |
missense |
probably benign |
|
|
R3409:Klhl7
|
UTSW |
5 |
24,343,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3410:Klhl7
|
UTSW |
5 |
24,343,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3411:Klhl7
|
UTSW |
5 |
24,343,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4927:Klhl7
|
UTSW |
5 |
24,346,185 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5284:Klhl7
|
UTSW |
5 |
24,364,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5400:Klhl7
|
UTSW |
5 |
24,331,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6644:Klhl7
|
UTSW |
5 |
24,354,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Klhl7
|
UTSW |
5 |
24,343,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7567:Klhl7
|
UTSW |
5 |
24,331,844 (GRCm39) |
missense |
probably benign |
|
|
R7658:Klhl7
|
UTSW |
5 |
24,346,284 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8312:Klhl7
|
UTSW |
5 |
24,339,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8431:Klhl7
|
UTSW |
5 |
24,343,473 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8827:Klhl7
|
UTSW |
5 |
24,363,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9163:Klhl7
|
UTSW |
5 |
24,364,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9746:Klhl7
|
UTSW |
5 |
24,331,818 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0067:Klhl7
|
UTSW |
5 |
24,346,293 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCTCAATTCAACAGGTGCTAC -3'
(R):5'- ACTGTGAAGTGTACTCTCCTATG -3'
Sequencing Primer
(F):5'- ATAACAGTCCTAGTGGTCACTGTG -3'
(R):5'- GAAGTGTACTCTCCTATGACATTAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation