Incidental Mutation 'R6829:Khdrbs3'
| ID |
534314 |
| 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 |
044939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6829 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
68800269-68973060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68964810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 249
(V249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022954]
[ENSMUST00000229234]
[ENSMUST00000229683]
[ENSMUST00000230847]
|
| AlphaFold |
Q9R226 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022954
AA Change: V337A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000022954
Gene: ENSMUSG00000022332
AA Change: V337A
| 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: V337A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229683
AA Change: V337A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230847
AA Change: V249A
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam2 |
A |
T |
14: 66,265,446 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
A |
T |
16: 85,666,959 (GRCm39) |
M511K |
possibly damaging |
Het |
| Adcy9 |
A |
G |
16: 4,125,018 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,876,463 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ccdc198 |
A |
G |
14: 49,464,025 (GRCm39) |
*295Q |
probably null |
Het |
| Dcaf1 |
T |
A |
9: 106,715,803 (GRCm39) |
S307T |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Elac2 |
A |
G |
11: 64,880,190 (GRCm39) |
E111G |
probably benign |
Het |
| Fbxw4 |
A |
G |
19: 45,624,813 (GRCm39) |
F57S |
possibly damaging |
Het |
| Gm17655 |
T |
G |
5: 110,194,792 (GRCm39) |
H330P |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,994,576 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
A |
3: 88,787,413 (GRCm39) |
D600E |
possibly damaging |
Het |
| Gsg1l2 |
T |
C |
11: 67,665,684 (GRCm39) |
I84T |
possibly damaging |
Het |
| Igsf9 |
A |
G |
1: 172,323,241 (GRCm39) |
R652G |
probably benign |
Het |
| Il17rd |
C |
T |
14: 26,809,379 (GRCm39) |
R112* |
probably null |
Het |
| Jph1 |
C |
A |
1: 17,074,647 (GRCm39) |
R457L |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,955,980 (GRCm39) |
S43G |
probably benign |
Het |
| Myom2 |
T |
A |
8: 15,172,643 (GRCm39) |
L1190* |
probably null |
Het |
| Or2w1 |
T |
A |
13: 21,317,023 (GRCm39) |
I26N |
possibly damaging |
Het |
| Or4f62 |
G |
C |
2: 111,986,139 (GRCm39) |
|
probably benign |
Het |
| Or5ac16 |
A |
G |
16: 59,021,898 (GRCm39) |
V297A |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,383,613 (GRCm39) |
L285* |
probably null |
Het |
| Pgc |
A |
T |
17: 48,043,706 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
G |
3: 63,604,939 (GRCm39) |
D1655A |
probably damaging |
Het |
| Pnliprp2 |
G |
A |
19: 58,748,305 (GRCm39) |
G29R |
probably benign |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,488 (GRCm39) |
I969T |
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sema7a |
A |
G |
9: 57,868,181 (GRCm39) |
E538G |
probably benign |
Het |
| Slc2a2 |
C |
T |
3: 28,781,590 (GRCm39) |
Q513* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,698,419 (GRCm39) |
Y636C |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,164,438 (GRCm39) |
D248G |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,623,166 (GRCm39) |
|
probably benign |
Het |
| Vmn1r14 |
T |
C |
6: 57,210,536 (GRCm39) |
L38P |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,396,380 (GRCm39) |
S397P |
probably damaging |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,414,540 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,676,915 (GRCm39) |
T2655M |
probably 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 |
|
R0014:Khdrbs3
|
UTSW |
15 |
68,896,684 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCATCTTGTTGCTGATG -3'
(R):5'- CAACAAAGTGGCTTTAAGTTCCATC -3'
Sequencing Primer
(F):5'- CATCTTGTTGCTGATGACATGATC -3'
(R):5'- AGTGGCTTTAAGTTCCATCCATTCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation