Incidental Mutation 'R9759:Khsrp'
| ID |
732919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khsrp
|
| Ensembl Gene |
ENSMUSG00000007670 |
| Gene Name |
KH-type splicing regulatory protein |
| Synonyms |
6330409F21Rik, KSRP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9759 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57328049-57338507 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57332925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 188
(L188P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007814]
[ENSMUST00000210548]
|
| AlphaFold |
Q3U0V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007814
AA Change: L188P
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000007814
Gene: ENSMUSG00000007670
AA Change: L188P
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
G |
T |
13: 119,615,989 (GRCm39) |
W508L |
probably damaging |
Het |
| Abt1 |
G |
T |
13: 23,606,439 (GRCm39) |
Q172K |
probably damaging |
Het |
| Aoah |
C |
A |
13: 21,000,738 (GRCm39) |
H57Q |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,756,242 (GRCm39) |
E34G |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,457,265 (GRCm39) |
R350Q |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,965,944 (GRCm39) |
H1691Y |
probably null |
Het |
| Doc2g |
A |
T |
19: 4,056,571 (GRCm39) |
H319L |
probably benign |
Het |
| Enah |
A |
C |
1: 181,841,911 (GRCm39) |
V6G |
unknown |
Het |
| Fam135b |
T |
G |
15: 71,335,689 (GRCm39) |
T502P |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,562,918 (GRCm39) |
S530P |
possibly damaging |
Het |
| Gm19410 |
A |
G |
8: 36,252,938 (GRCm39) |
R628G |
possibly damaging |
Het |
| Hdac7 |
T |
C |
15: 97,699,989 (GRCm39) |
T614A |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,672,256 (GRCm39) |
L32* |
probably null |
Het |
| Insm2 |
C |
T |
12: 55,647,390 (GRCm39) |
T378M |
possibly damaging |
Het |
| Kctd3 |
G |
A |
1: 188,710,786 (GRCm39) |
T459M |
probably damaging |
Het |
| Kynu |
A |
G |
2: 43,569,881 (GRCm39) |
I388V |
probably benign |
Het |
| Met |
T |
C |
6: 17,555,561 (GRCm39) |
V1090A |
probably damaging |
Het |
| Mier1 |
C |
T |
4: 103,019,725 (GRCm39) |
T483I |
probably benign |
Het |
| Mthfsd |
A |
G |
8: 121,824,615 (GRCm39) |
S297P |
probably benign |
Het |
| P2rx5 |
A |
T |
11: 73,058,341 (GRCm39) |
I259F |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,170,415 (GRCm39) |
L138P |
probably damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,938,546 (GRCm39) |
H575Q |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,492,465 (GRCm39) |
R953H |
probably benign |
Het |
| Sirt1 |
A |
G |
10: 63,156,516 (GRCm39) |
S705P |
probably benign |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Slc46a3 |
T |
C |
5: 147,823,234 (GRCm39) |
T203A |
probably benign |
Het |
| Snta1 |
G |
T |
2: 154,222,889 (GRCm39) |
T278K |
probably benign |
Het |
| Stac3 |
A |
G |
10: 127,344,083 (GRCm39) |
D327G |
possibly damaging |
Het |
| Timm44 |
C |
A |
8: 4,317,707 (GRCm39) |
E205* |
probably null |
Het |
| Timm8a2 |
A |
T |
14: 122,272,216 (GRCm39) |
T40S |
probably damaging |
Het |
| Vmn2r116 |
A |
G |
17: 23,620,360 (GRCm39) |
N698S |
possibly damaging |
Het |
| Zik1 |
A |
C |
7: 10,223,716 (GRCm39) |
C460W |
possibly damaging |
Het |
| Zmynd8 |
A |
C |
2: 165,680,746 (GRCm39) |
I229S |
possibly damaging |
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 |
|
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 |
|
Z1088:Khsrp
|
UTSW |
17 |
57,331,249 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGACCTGGGCTGTTCAAG -3'
(R):5'- GCTGATTTCTGGAGTCTCCC -3'
Sequencing Primer
(F):5'- ACCTGGGCTGTTCAAGATTGAGAG -3'
(R):5'- TTGGCCTCTACGTGCGAGAAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation