Incidental Mutation 'R8991:Ksr1'
| ID |
684420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr1
|
| Ensembl Gene |
ENSMUSG00000018334 |
| Gene Name |
kinase suppressor of ras 1 |
| Synonyms |
D11Bhm183e, B-KSR1, D11Bhm184e |
| MMRRC Submission |
068716-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R8991 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78904266-79037233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78936014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 117
(S117P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000129463]
[ENSMUST00000141409]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
| AlphaFold |
Q61097 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018478
AA Change: S199P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: S199P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
31 |
N/A |
INTRINSIC |
|
Pfam:KSR1-SAM
|
39 |
166 |
2.7e-41 |
PFAM |
|
low complexity region
|
271 |
278 |
N/A |
INTRINSIC |
|
C1
|
334 |
377 |
5.48e-8 |
SMART |
|
low complexity region
|
429 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
563 |
827 |
2.3e-48 |
PFAM |
|
Pfam:Pkinase
|
563 |
828 |
1.5e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108264
AA Change: S199P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: S199P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
31 |
N/A |
INTRINSIC |
|
Pfam:KSR1-SAM
|
39 |
166 |
8.9e-51 |
PFAM |
|
low complexity region
|
271 |
278 |
N/A |
INTRINSIC |
|
C1
|
334 |
377 |
5.48e-8 |
SMART |
|
low complexity region
|
429 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
563 |
637 |
1e-6 |
PFAM |
|
Pfam:Pkinase_Tyr
|
563 |
637 |
2e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129463
AA Change: S79P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114538
Gene: ENSMUSG00000018334
AA Change: S79P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KSR1-SAM
|
1 |
46 |
5.9e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141409
AA Change: S117P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000116407
Gene: ENSMUSG00000018334
AA Change: S117P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KSR1-SAM
|
35 |
84 |
1.6e-12 |
PFAM |
|
low complexity region
|
189 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208969
AA Change: S124P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226282
AA Change: S117P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,232 (GRCm39) |
K54I |
probably damaging |
Het |
| Ankrd34b |
T |
A |
13: 92,575,725 (GRCm39) |
I319K |
probably benign |
Het |
| Art2b |
G |
A |
7: 101,229,590 (GRCm39) |
A103V |
probably damaging |
Het |
| Atmin |
T |
G |
8: 117,679,665 (GRCm39) |
F126C |
probably damaging |
Het |
| Cc2d1b |
A |
T |
4: 108,482,143 (GRCm39) |
N139I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,200,987 (GRCm39) |
Y794C |
probably damaging |
Het |
| Cic |
T |
A |
7: 24,988,885 (GRCm39) |
V1829D |
probably damaging |
Het |
| Cnep1r1 |
G |
A |
8: 88,856,447 (GRCm39) |
R99Q |
unknown |
Het |
| Cpq |
G |
C |
15: 33,213,353 (GRCm39) |
R124P |
probably damaging |
Het |
| Crtc3 |
A |
T |
7: 80,327,191 (GRCm39) |
V45D |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,036,143 (GRCm39) |
S297A |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,777,506 (GRCm39) |
S3681T |
probably damaging |
Het |
| Dock8 |
T |
C |
19: 25,165,731 (GRCm39) |
Y1872H |
possibly damaging |
Het |
| Fbn2 |
T |
A |
18: 58,239,395 (GRCm39) |
Q558L |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,676,491 (GRCm39) |
V580A |
probably benign |
Het |
| Fscn3 |
C |
T |
6: 28,434,472 (GRCm39) |
T349I |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,815,370 (GRCm39) |
V3701A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,496,347 (GRCm39) |
V3913A |
probably benign |
Het |
| Htt |
G |
A |
5: 35,063,062 (GRCm39) |
G2898D |
probably damaging |
Het |
| Ighv3-4 |
T |
G |
12: 114,217,266 (GRCm39) |
E108D |
probably benign |
Het |
| Irx5 |
G |
T |
8: 93,087,135 (GRCm39) |
E356* |
probably null |
Het |
| Kcnh6 |
A |
G |
11: 105,909,971 (GRCm39) |
I499V |
possibly damaging |
Het |
| Kcnj10 |
T |
A |
1: 172,196,963 (GRCm39) |
I159N |
probably damaging |
Het |
| Kcnmb4 |
T |
A |
10: 116,282,238 (GRCm39) |
H153L |
probably benign |
Het |
| Klhl8 |
T |
C |
5: 104,018,404 (GRCm39) |
N409S |
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,059,244 (GRCm39) |
V327E |
probably damaging |
Het |
| Mrc2 |
C |
A |
11: 105,229,740 (GRCm39) |
H724Q |
probably benign |
Het |
| Mtf2 |
T |
A |
5: 108,248,805 (GRCm39) |
F372L |
probably benign |
Het |
| Nipbl |
A |
T |
15: 8,320,997 (GRCm39) |
D2703E |
probably damaging |
Het |
| Nova1 |
T |
C |
12: 46,863,800 (GRCm39) |
Y50C |
unknown |
Het |
| Ofcc1 |
T |
A |
13: 40,296,277 (GRCm39) |
Y519F |
probably benign |
Het |
| Or2aj5 |
T |
A |
16: 19,424,511 (GRCm39) |
K301N |
probably damaging |
Het |
| Or4f54 |
T |
C |
2: 111,123,348 (GRCm39) |
I245T |
probably damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,682 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4p19 |
A |
C |
2: 88,242,723 (GRCm39) |
M93R |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,719,325 (GRCm39) |
A1154V |
unknown |
Het |
| Phrf1 |
A |
G |
7: 140,823,671 (GRCm39) |
D4G |
unknown |
Het |
| Ppp4r3b |
A |
T |
11: 29,123,306 (GRCm39) |
M1L |
probably damaging |
Het |
| Prmt7 |
A |
G |
8: 106,943,874 (GRCm39) |
|
probably null |
Het |
| Retnlg |
A |
G |
16: 48,694,038 (GRCm39) |
T65A |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,911,896 (GRCm39) |
N1763D |
probably benign |
Het |
| Scn7a |
A |
G |
2: 66,514,588 (GRCm39) |
F1062S |
possibly damaging |
Het |
| Scube3 |
A |
C |
17: 28,383,027 (GRCm39) |
K402Q |
probably damaging |
Het |
| Skic2 |
T |
A |
17: 35,059,166 (GRCm39) |
D1067V |
probably damaging |
Het |
| Slc25a22 |
C |
A |
7: 141,013,871 (GRCm39) |
D30Y |
probably damaging |
Het |
| Smim17 |
A |
T |
7: 6,427,720 (GRCm39) |
Q2L |
possibly damaging |
Het |
| Son |
G |
T |
16: 91,453,366 (GRCm39) |
M704I |
probably benign |
Het |
| Son |
C |
T |
16: 91,453,608 (GRCm39) |
S785F |
possibly damaging |
Het |
| Tnfrsf21 |
G |
A |
17: 43,396,299 (GRCm39) |
V528M |
probably benign |
Het |
| Tnks1bp1 |
T |
C |
2: 84,894,290 (GRCm39) |
S1406P |
probably benign |
Het |
| Trim21 |
A |
T |
7: 102,212,908 (GRCm39) |
V130E |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,289,295 (GRCm39) |
I94F |
probably benign |
Het |
| Tubb4a |
C |
T |
17: 57,388,169 (GRCm39) |
V286I |
probably benign |
Het |
| Vmn1r180 |
T |
A |
7: 23,652,076 (GRCm39) |
S80T |
probably benign |
Het |
| Vmn2r114 |
A |
C |
17: 23,529,286 (GRCm39) |
I272S |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,234,033 (GRCm39) |
Y726* |
probably null |
Het |
| Zdhhc16 |
T |
C |
19: 41,926,465 (GRCm39) |
F83L |
probably damaging |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
|
| Other mutations in Ksr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Ksr1
|
APN |
11 |
78,918,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01304:Ksr1
|
APN |
11 |
78,918,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Ksr1
|
APN |
11 |
78,927,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01928:Ksr1
|
APN |
11 |
78,935,665 (GRCm39) |
splice site |
probably null |
|
|
IGL02025:Ksr1
|
APN |
11 |
78,912,276 (GRCm39) |
splice site |
probably null |
|
|
IGL02176:Ksr1
|
APN |
11 |
78,911,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02374:Ksr1
|
APN |
11 |
78,919,317 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02511:Ksr1
|
APN |
11 |
78,936,046 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02563:Ksr1
|
APN |
11 |
78,935,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02662:Ksr1
|
APN |
11 |
78,927,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02823:Ksr1
|
APN |
11 |
78,912,229 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02879:Ksr1
|
APN |
11 |
78,965,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
julius
|
UTSW |
11 |
78,927,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0096:Ksr1
|
UTSW |
11 |
78,929,073 (GRCm39) |
splice site |
probably benign |
|
|
R0096:Ksr1
|
UTSW |
11 |
78,929,073 (GRCm39) |
splice site |
probably benign |
|
|
R0364:Ksr1
|
UTSW |
11 |
78,919,851 (GRCm39) |
splice site |
probably benign |
|
|
R0479:Ksr1
|
UTSW |
11 |
78,916,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Ksr1
|
UTSW |
11 |
78,935,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0711:Ksr1
|
UTSW |
11 |
78,929,073 (GRCm39) |
splice site |
probably benign |
|
|
R0743:Ksr1
|
UTSW |
11 |
78,912,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0884:Ksr1
|
UTSW |
11 |
78,912,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1272:Ksr1
|
UTSW |
11 |
79,036,904 (GRCm39) |
nonsense |
probably null |
|
|
R1739:Ksr1
|
UTSW |
11 |
78,938,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Ksr1
|
UTSW |
11 |
78,927,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1885:Ksr1
|
UTSW |
11 |
78,911,204 (GRCm39) |
missense |
probably null |
|
|
R1886:Ksr1
|
UTSW |
11 |
78,911,204 (GRCm39) |
missense |
probably null |
|
|
R2118:Ksr1
|
UTSW |
11 |
78,936,019 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2127:Ksr1
|
UTSW |
11 |
78,924,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Ksr1
|
UTSW |
11 |
78,936,007 (GRCm39) |
splice site |
probably null |
|
|
R4090:Ksr1
|
UTSW |
11 |
78,918,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Ksr1
|
UTSW |
11 |
78,965,186 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4854:Ksr1
|
UTSW |
11 |
78,918,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Ksr1
|
UTSW |
11 |
78,911,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Ksr1
|
UTSW |
11 |
78,929,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Ksr1
|
UTSW |
11 |
78,950,545 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6199:Ksr1
|
UTSW |
11 |
78,911,267 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6346:Ksr1
|
UTSW |
11 |
78,910,490 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6377:Ksr1
|
UTSW |
11 |
78,927,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6885:Ksr1
|
UTSW |
11 |
78,938,121 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7016:Ksr1
|
UTSW |
11 |
78,918,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Ksr1
|
UTSW |
11 |
79,036,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8984:Ksr1
|
UTSW |
11 |
78,931,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9056:Ksr1
|
UTSW |
11 |
78,918,465 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9077:Ksr1
|
UTSW |
11 |
78,927,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Ksr1
|
UTSW |
11 |
78,911,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9308:Ksr1
|
UTSW |
11 |
78,918,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9447:Ksr1
|
UTSW |
11 |
78,909,159 (GRCm39) |
missense |
unknown |
|
|
R9455:Ksr1
|
UTSW |
11 |
78,911,602 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9511:Ksr1
|
UTSW |
11 |
78,924,094 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
U24488:Ksr1
|
UTSW |
11 |
78,938,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ksr1
|
UTSW |
11 |
78,935,705 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Ksr1
|
UTSW |
11 |
78,918,426 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Ksr1
|
UTSW |
11 |
78,911,577 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGATTCGGTTTCCCAGCTG -3'
(R):5'- TAATGGTGTTACCTCCGTCAC -3'
Sequencing Primer
(F):5'- AGCAGCTGGAAGACCTTGC -3'
(R):5'- CGGTGTCATGCTCTCCCATAGTAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation