Incidental Mutation 'IGL00569:Khsrp'
| ID |
11606 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Khsrp
|
| Ensembl Gene |
ENSMUSG00000007670 |
| Gene Name |
KH-type splicing regulatory protein |
| Synonyms |
6330409F21Rik, KSRP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57328049-57338507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57330092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 646
(T646A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007814]
[ENSMUST00000210548]
|
| AlphaFold |
Q3U0V1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000007814
AA Change: T646A
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
AA Change: T646A
| 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 |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
G |
11: 110,077,875 (GRCm39) |
N1311H |
possibly damaging |
Het |
| Adrm1b |
T |
C |
3: 92,335,707 (GRCm39) |
T332A |
probably benign |
Het |
| Apol8 |
C |
T |
15: 77,634,255 (GRCm39) |
R107H |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,189,343 (GRCm39) |
I98N |
probably damaging |
Het |
| Clps |
T |
A |
17: 28,779,636 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,517,296 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,562,729 (GRCm39) |
F544L |
probably damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,176,912 (GRCm39) |
S218T |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,819,077 (GRCm39) |
*650Q |
probably null |
Het |
| Fxn |
A |
T |
19: 24,244,714 (GRCm39) |
I142N |
probably damaging |
Het |
| Gm10610 |
A |
T |
7: 83,198,778 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa1l |
C |
T |
17: 35,196,441 (GRCm39) |
T160I |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Lilra6 |
A |
G |
7: 3,917,588 (GRCm39) |
S136P |
probably damaging |
Het |
| Lmo7 |
T |
G |
14: 102,124,487 (GRCm39) |
N315K |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,810,790 (GRCm39) |
T147A |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,938,585 (GRCm39) |
E1134G |
possibly damaging |
Het |
| Nek3 |
A |
G |
8: 22,648,722 (GRCm39) |
L103P |
probably damaging |
Het |
| Nudt17 |
G |
T |
3: 96,614,343 (GRCm39) |
P222Q |
probably damaging |
Het |
| Pla2r1 |
G |
T |
2: 60,250,769 (GRCm39) |
T1386K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,738,872 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
C |
1: 152,447,368 (GRCm39) |
S134A |
probably benign |
Het |
| Rnls |
T |
A |
19: 33,145,888 (GRCm39) |
E195V |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,232 (GRCm39) |
N536S |
probably benign |
Het |
| Serinc3 |
G |
T |
2: 163,469,921 (GRCm39) |
P309Q |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,213,329 (GRCm39) |
R528C |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,186 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
T |
A |
4: 12,061,826 (GRCm39) |
I549L |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,174,579 (GRCm39) |
H269N |
possibly damaging |
Het |
| Wdr87-ps |
A |
T |
7: 29,233,565 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Khsrp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1080:Khsrp
|
UTSW |
17 |
57,331,410 (GRCm39) |
frame shift |
probably null |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation