Incidental Mutation 'R4001:Klhdc7b'
| ID |
312490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc7b
|
| Ensembl Gene |
ENSMUSG00000091680 |
| Gene Name |
kelch domain containing 7B |
| Synonyms |
EG546648 |
| MMRRC Submission |
040844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R4001 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89269120-89273070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89272187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1023
(N1023S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109314]
[ENSMUST00000166926]
[ENSMUST00000167959]
[ENSMUST00000225666]
|
| AlphaFold |
A0A286YD60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109314
|
| SMART Domains |
Protein: ENSMUSP00000104937
Gene: ENSMUSG00000078938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptonemal_3
|
1 |
86 |
4e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166926
AA Change: N365S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130884
Gene: ENSMUSG00000091680
AA Change: N365S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
Kelch
|
366 |
416 |
1.04e-6 |
SMART |
|
Kelch
|
417 |
461 |
4.9e-3 |
SMART |
|
Kelch
|
462 |
504 |
4.18e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167959
|
| SMART Domains |
Protein: ENSMUSP00000131766
Gene: ENSMUSG00000078938
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaptonemal_3
|
1 |
85 |
6.6e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225666
AA Change: N1023S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6109 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (28/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
A |
8: 111,768,234 (GRCm39) |
H202N |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,428 (GRCm39) |
T94S |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Clip4 |
A |
T |
17: 72,106,071 (GRCm39) |
I85L |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,714,735 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
G |
2: 125,319,415 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,003,476 (GRCm39) |
R25G |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,759 (GRCm39) |
R153* |
probably null |
Het |
| Lpcat4 |
A |
T |
2: 112,070,296 (GRCm39) |
Q3L |
probably benign |
Het |
| Naa16 |
C |
A |
14: 79,580,561 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
T |
14: 123,834,006 (GRCm39) |
N56K |
probably damaging |
Het |
| Obscn |
C |
G |
11: 59,025,395 (GRCm39) |
A412P |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,812 (GRCm39) |
L71P |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,967,104 (GRCm39) |
L415Q |
probably damaging |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Rbms2 |
C |
T |
10: 127,987,169 (GRCm39) |
S13N |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,693,330 (GRCm39) |
L617P |
probably damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,068 (GRCm39) |
V26A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,847,318 (GRCm39) |
L282P |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,131,339 (GRCm39) |
M826T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,269,271 (GRCm39) |
S820P |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,405,533 (GRCm39) |
N353S |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,566 (GRCm39) |
S1562P |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,778,366 (GRCm39) |
V916I |
probably benign |
Het |
|
| Other mutations in Klhdc7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01574:Klhdc7b
|
APN |
15 |
89,271,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02711:Klhdc7b
|
APN |
15 |
89,272,246 (GRCm39) |
nonsense |
probably null |
|
|
R0115:Klhdc7b
|
UTSW |
15 |
89,272,724 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0718:Klhdc7b
|
UTSW |
15 |
89,272,372 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0729:Klhdc7b
|
UTSW |
15 |
89,271,598 (GRCm39) |
nonsense |
probably null |
|
|
R0971:Klhdc7b
|
UTSW |
15 |
89,271,257 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1794:Klhdc7b
|
UTSW |
15 |
89,271,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1815:Klhdc7b
|
UTSW |
15 |
89,271,800 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1893:Klhdc7b
|
UTSW |
15 |
89,271,898 (GRCm39) |
splice site |
probably null |
|
|
R3508:Klhdc7b
|
UTSW |
15 |
89,271,095 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3552:Klhdc7b
|
UTSW |
15 |
89,271,724 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4618:Klhdc7b
|
UTSW |
15 |
89,271,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4727:Klhdc7b
|
UTSW |
15 |
89,271,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Klhdc7b
|
UTSW |
15 |
89,272,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5549:Klhdc7b
|
UTSW |
15 |
89,271,562 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5643:Klhdc7b
|
UTSW |
15 |
89,271,862 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5778:Klhdc7b
|
UTSW |
15 |
89,271,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Klhdc7b
|
UTSW |
15 |
89,271,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5942:Klhdc7b
|
UTSW |
15 |
89,271,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6020:Klhdc7b
|
UTSW |
15 |
89,272,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6653:Klhdc7b
|
UTSW |
15 |
89,271,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6810:Klhdc7b
|
UTSW |
15 |
89,272,559 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7399:Klhdc7b
|
UTSW |
15 |
89,272,847 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7548:Klhdc7b
|
UTSW |
15 |
89,272,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7640:Klhdc7b
|
UTSW |
15 |
89,271,463 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8461:Klhdc7b
|
UTSW |
15 |
89,271,824 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8712:Klhdc7b
|
UTSW |
15 |
89,271,025 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8890:Klhdc7b
|
UTSW |
15 |
89,272,888 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9497:Klhdc7b
|
UTSW |
15 |
89,272,463 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9785:Klhdc7b
|
UTSW |
15 |
89,272,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACCCAGCCTTTATCAGGTG -3'
(R):5'- AGCGCTCCATGCTGTATAG -3'
Sequencing Primer
(F):5'- AGCCTTTATCAGGTGAGCCG -3'
(R):5'- ATGCTGTATAGGCACTCGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation