Incidental Mutation 'IGL03163:Khdrbs1'
| ID |
411522 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.655)
|
| Stock # |
IGL03163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
129596957-129636096 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129619508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 211
(E211G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066257]
[ENSMUST00000129342]
|
| AlphaFold |
Q60749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066257
AA Change: E211G
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066516
Gene: ENSMUSG00000028790
AA Change: E211G
| 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 benign
Transcript: ENSMUST00000129342
AA Change: E211G
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115402
Gene: ENSMUSG00000028790
AA Change: E211G
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
| Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
| Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
| Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
| Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
| Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
| Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
| Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
| Lonrf1 |
T |
C |
8: 36,697,484 (GRCm39) |
D500G |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
| Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
| Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
| Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
| Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
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 |
|
|
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 |
|
|
R3000:Khdrbs1
|
UTSW |
4 |
129,619,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation