Incidental Mutation 'R1080:Khsrp'
| ID |
85847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khsrp
|
| Ensembl Gene |
ENSMUSG00000007670 |
| Gene Name |
KH-type splicing regulatory protein |
| Synonyms |
6330409F21Rik, KSRP |
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
156 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57328049-57338507 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GTCATT to GT
at 57331410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007814]
[ENSMUST00000210548]
|
| AlphaFold |
Q3U0V1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000007814
|
| SMART Domains |
Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
69 |
N/A |
INTRINSIC |
|
KH
|
144 |
214 |
1.46e-18 |
SMART |
|
KH
|
233 |
305 |
2.46e-16 |
SMART |
|
KH
|
322 |
392 |
7.87e-15 |
SMART |
|
KH
|
424 |
497 |
3.29e-17 |
SMART |
|
low complexity region
|
498 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
579 |
N/A |
INTRINSIC |
|
Pfam:DUF1897
|
610 |
636 |
1.8e-8 |
PFAM |
|
Pfam:DUF1897
|
666 |
688 |
8.5e-10 |
PFAM |
|
low complexity region
|
691 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
717 |
727 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210548
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased susceptibility to HSV-1 infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Khsrp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00569:Khsrp
|
APN |
17 |
57,330,092 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0973:Khsrp
|
UTSW |
17 |
57,332,576 (GRCm39) |
missense |
probably benign |
|
|
R0973:Khsrp
|
UTSW |
17 |
57,332,576 (GRCm39) |
missense |
probably benign |
|
|
R0974:Khsrp
|
UTSW |
17 |
57,332,576 (GRCm39) |
missense |
probably benign |
|
|
R0975:Khsrp
|
UTSW |
17 |
57,334,066 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1561:Khsrp
|
UTSW |
17 |
57,332,639 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1686:Khsrp
|
UTSW |
17 |
57,332,597 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2133:Khsrp
|
UTSW |
17 |
57,334,832 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2134:Khsrp
|
UTSW |
17 |
57,331,410 (GRCm39) |
frame shift |
probably null |
|
|
R4133:Khsrp
|
UTSW |
17 |
57,332,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4819:Khsrp
|
UTSW |
17 |
57,330,360 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5213:Khsrp
|
UTSW |
17 |
57,331,366 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5372:Khsrp
|
UTSW |
17 |
57,331,292 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6246:Khsrp
|
UTSW |
17 |
57,332,324 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R6528:Khsrp
|
UTSW |
17 |
57,330,543 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7071:Khsrp
|
UTSW |
17 |
57,332,386 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7141:Khsrp
|
UTSW |
17 |
57,332,602 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8282:Khsrp
|
UTSW |
17 |
57,331,123 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9393:Khsrp
|
UTSW |
17 |
57,330,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9759:Khsrp
|
UTSW |
17 |
57,332,925 (GRCm39) |
missense |
probably benign |
0.25 |
|
Z1088:Khsrp
|
UTSW |
17 |
57,331,249 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTTGGACCACGATGAGTGAAGG -3'
(R):5'- TCACATGGAGTCAGCAAATTCGAGG -3'
Sequencing Primer
(F):5'- CAGAGCATTGGGGACTCAC -3'
(R):5'- GCAAATTCGAGGAACTGATCTCTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation