Incidental Mutation 'R0014:Khdrbs3'
| ID |
7981 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khdrbs3
|
| Ensembl Gene |
ENSMUSG00000022332 |
| Gene Name |
KH domain containing, RNA binding, signal transduction associated 3 |
| Synonyms |
Etle, SLM-2, T-STAR, Salp |
| MMRRC Submission |
038309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0014 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
68800269-68973060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68896684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 115
(T115A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022954]
[ENSMUST00000229234]
[ENSMUST00000229683]
[ENSMUST00000230073]
[ENSMUST00000230847]
|
| AlphaFold |
Q9R226 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022954
AA Change: T203A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: T203A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2XA6|B
|
2 |
27 |
2e-7 |
PDB |
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
KH
|
54 |
152 |
8.92e-5 |
SMART |
|
Pfam:Sam68-YY
|
266 |
320 |
3.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229234
AA Change: T203A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229683
AA Change: T203A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230073
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230847
AA Change: T115A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0580 |
| Coding Region Coverage |
- 1x: 75.1%
- 3x: 61.1%
- 10x: 30.7%
- 20x: 14.1%
|
| Validation Efficiency |
90% (62/69) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no detectable spatial memory deficits. Males sire slightly smaller litters than control males. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
C |
T |
12: 21,386,645 (GRCm39) |
E445K |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,250,547 (GRCm39) |
V399A |
possibly damaging |
Het |
| Ankrd52 |
C |
A |
10: 128,222,321 (GRCm39) |
T583K |
probably benign |
Het |
| Ccr5 |
T |
C |
9: 123,924,658 (GRCm39) |
F87S |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,568,712 (GRCm39) |
C10* |
probably null |
Het |
| Cngb3 |
T |
C |
4: 19,396,685 (GRCm39) |
I346T |
probably benign |
Het |
| Degs1l |
T |
C |
1: 180,882,696 (GRCm39) |
F153L |
possibly damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,775,221 (GRCm39) |
T358K |
probably damaging |
Het |
| Dnai3 |
T |
C |
3: 145,787,178 (GRCm39) |
|
probably null |
Het |
| Dpyd |
T |
C |
3: 118,935,584 (GRCm39) |
S670P |
probably damaging |
Het |
| Epc2 |
A |
T |
2: 49,412,537 (GRCm39) |
K172* |
probably null |
Het |
| Exog |
T |
C |
9: 119,281,344 (GRCm39) |
I218T |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,417 (GRCm39) |
N154I |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,165,603 (GRCm39) |
Y108* |
probably null |
Het |
| Fhad1 |
A |
T |
4: 141,655,719 (GRCm39) |
L795Q |
probably damaging |
Het |
| Fyttd1 |
G |
A |
16: 32,725,924 (GRCm39) |
R175Q |
probably damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,496 (GRCm39) |
C395S |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,291,642 (GRCm39) |
N716D |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,947,168 (GRCm39) |
D347G |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,304 (GRCm39) |
L163P |
probably damaging |
Het |
| Hmox2 |
T |
A |
16: 4,582,897 (GRCm39) |
L210Q |
probably damaging |
Het |
| Lrrk2 |
T |
C |
15: 91,686,248 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
A |
C |
2: 155,279,963 (GRCm39) |
S18A |
possibly damaging |
Het |
| Neb |
G |
A |
2: 52,177,168 (GRCm39) |
A1391V |
probably damaging |
Het |
| Nek6 |
T |
C |
2: 38,448,856 (GRCm39) |
|
probably benign |
Het |
| Pclo |
C |
T |
5: 14,730,465 (GRCm39) |
|
probably benign |
Het |
| Pex1 |
G |
A |
5: 3,676,141 (GRCm39) |
|
probably benign |
Het |
| Pi4kb |
T |
G |
3: 94,906,208 (GRCm39) |
I612S |
probably damaging |
Het |
| Pitx2 |
T |
G |
3: 129,012,148 (GRCm39) |
S193A |
possibly damaging |
Het |
| Psma8 |
A |
G |
18: 14,859,587 (GRCm39) |
I86V |
possibly damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,364,065 (GRCm39) |
L426P |
probably damaging |
Het |
| Tut1 |
T |
A |
19: 8,939,811 (GRCm39) |
L265Q |
possibly damaging |
Het |
| Zfp458 |
A |
G |
13: 67,406,154 (GRCm39) |
V95A |
possibly damaging |
Het |
|
| Other mutations in Khdrbs3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02333:Khdrbs3
|
APN |
15 |
68,921,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02756:Khdrbs3
|
APN |
15 |
68,896,685 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL03303:Khdrbs3
|
APN |
15 |
68,896,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0066:Khdrbs3
|
UTSW |
15 |
68,866,886 (GRCm39) |
splice site |
probably benign |
|
|
R0487:Khdrbs3
|
UTSW |
15 |
68,889,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1500:Khdrbs3
|
UTSW |
15 |
68,800,635 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1871:Khdrbs3
|
UTSW |
15 |
68,921,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2002:Khdrbs3
|
UTSW |
15 |
68,885,328 (GRCm39) |
intron |
probably benign |
|
|
R2111:Khdrbs3
|
UTSW |
15 |
68,896,673 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2191:Khdrbs3
|
UTSW |
15 |
68,964,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2290:Khdrbs3
|
UTSW |
15 |
68,901,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Khdrbs3
|
UTSW |
15 |
68,896,544 (GRCm39) |
splice site |
probably benign |
|
|
R2940:Khdrbs3
|
UTSW |
15 |
68,921,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3418:Khdrbs3
|
UTSW |
15 |
68,921,224 (GRCm39) |
splice site |
probably benign |
|
|
R5770:Khdrbs3
|
UTSW |
15 |
68,921,312 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5885:Khdrbs3
|
UTSW |
15 |
68,896,547 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6829:Khdrbs3
|
UTSW |
15 |
68,964,810 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7288:Khdrbs3
|
UTSW |
15 |
68,921,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9215:Khdrbs3
|
UTSW |
15 |
68,964,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9732:Khdrbs3
|
UTSW |
15 |
68,885,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Khdrbs3
|
UTSW |
15 |
68,889,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Khdrbs3
|
UTSW |
15 |
68,800,680 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-11-20 |
Incidental Mutation