Incidental Mutation 'R3000:Khdrbs1'
| ID |
257248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khdrbs1
|
| Ensembl Gene |
ENSMUSG00000028790 |
| Gene Name |
KH domain containing, RNA binding, signal transduction associated 1 |
| Synonyms |
p62, Sam68 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.705)
|
| Stock # |
R3000 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129596957-129636096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129619456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 228
(H228Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066257]
[ENSMUST00000129342]
|
| AlphaFold |
Q60749 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066257
AA Change: H228Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: H228Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
KH
|
154 |
252 |
6.91e-11 |
SMART |
|
low complexity region
|
281 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
351 |
N/A |
INTRINSIC |
|
Pfam:Sam68-YY
|
366 |
415 |
1.8e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129342
AA Change: H228Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: H228Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
94 |
N/A |
INTRINSIC |
|
KH
|
154 |
252 |
6.91e-11 |
SMART |
|
low complexity region
|
281 |
316 |
N/A |
INTRINSIC |
|
low complexity region
|
326 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
364 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
397 |
N/A |
INTRINSIC |
|
PDB:3QHE|D
|
398 |
419 |
3e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139281
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3'-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous mutation of this gene protects mice from age-related bone loss and the formation of fatty bone marrow. Males are infertile and females do not care for young. Some die at birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
G |
8: 23,609,447 (GRCm39) |
K1364E |
probably damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,307,755 (GRCm39) |
N331K |
probably damaging |
Het |
| Bco2 |
C |
A |
9: 50,450,229 (GRCm39) |
D324Y |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,915,342 (GRCm39) |
*211R |
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Lrfn1 |
G |
A |
7: 28,166,832 (GRCm39) |
G742E |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,609,273 (GRCm39) |
D377E |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Mcoln3 |
T |
A |
3: 145,839,662 (GRCm39) |
I338N |
possibly damaging |
Het |
| Mep1b |
G |
A |
18: 21,226,361 (GRCm39) |
G408S |
probably damaging |
Het |
| Pdlim5 |
C |
A |
3: 142,017,892 (GRCm39) |
Q125H |
probably damaging |
Het |
| Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,460 (GRCm39) |
R4000H |
probably damaging |
Het |
| Ripor3 |
A |
T |
2: 167,833,100 (GRCm39) |
Y357N |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,670,033 (GRCm39) |
D1679E |
probably benign |
Het |
| Stac3 |
C |
T |
10: 127,344,016 (GRCm39) |
R305C |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,459,393 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
T |
C |
9: 119,781,320 (GRCm39) |
Y498H |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,273,263 (GRCm39) |
F239S |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,360,949 (GRCm39) |
L173Q |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,714 (GRCm39) |
N2982K |
probably damaging |
Het |
|
| Other mutations in Khdrbs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01731:Khdrbs1
|
APN |
4 |
129,619,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01801:Khdrbs1
|
APN |
4 |
129,635,574 (GRCm39) |
missense |
probably benign |
|
|
IGL03163:Khdrbs1
|
APN |
4 |
129,619,508 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1163:Khdrbs1
|
UTSW |
4 |
129,619,379 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1350:Khdrbs1
|
UTSW |
4 |
129,614,545 (GRCm39) |
missense |
probably benign |
|
|
R2059:Khdrbs1
|
UTSW |
4 |
129,619,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Khdrbs1
|
UTSW |
4 |
129,613,830 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2518:Khdrbs1
|
UTSW |
4 |
129,614,540 (GRCm39) |
missense |
probably benign |
|
|
R3552:Khdrbs1
|
UTSW |
4 |
129,614,584 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4402:Khdrbs1
|
UTSW |
4 |
129,635,889 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4623:Khdrbs1
|
UTSW |
4 |
129,614,635 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5138:Khdrbs1
|
UTSW |
4 |
129,635,647 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5384:Khdrbs1
|
UTSW |
4 |
129,635,729 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5863:Khdrbs1
|
UTSW |
4 |
129,616,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5897:Khdrbs1
|
UTSW |
4 |
129,614,448 (GRCm39) |
missense |
probably benign |
|
|
R6018:Khdrbs1
|
UTSW |
4 |
129,613,887 (GRCm39) |
missense |
probably benign |
|
|
R6153:Khdrbs1
|
UTSW |
4 |
129,609,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6185:Khdrbs1
|
UTSW |
4 |
129,636,068 (GRCm39) |
start gained |
probably benign |
|
|
R6377:Khdrbs1
|
UTSW |
4 |
129,635,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6983:Khdrbs1
|
UTSW |
4 |
129,614,635 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAACCTTGGCACACTG -3'
(R):5'- AGGACTTGCTTTACTTCCCTTAAGG -3'
Sequencing Primer
(F):5'- TTGGCACACTGAACAAAAGC -3'
(R):5'- TCCCTTTGACCTACAGGT -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation