Incidental Mutation 'R9056:Ksr1'
| ID |
688700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr1
|
| Ensembl Gene |
ENSMUSG00000018334 |
| Gene Name |
kinase suppressor of ras 1 |
| Synonyms |
D11Bhm183e, B-KSR1, D11Bhm184e |
| MMRRC Submission |
068882-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R9056 (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 78918465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 563
(V563A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018478
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
| AlphaFold |
Q61097 |
| PDB Structure |
Solution structure of the cysteine-rich C1 domain of Kinase Suppressor of Ras [SOLUTION NMR]
Solution Structure of the Cysteine-Rich C1 Domain of Kinase Suppressor of Ras [SOLUTION NMR]
Solution NMR Structure of the KSR1 CA1-CA1a domain [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018478
AA Change: V563A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: V563A
| 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 |
possibly damaging
Transcript: ENSMUST00000108264
AA Change: V563A
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: V563A
| 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 benign
Transcript: ENSMUST00000208969
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226282
AA Change: V481A
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,414,921 (GRCm39) |
I3996T |
probably damaging |
Het |
| Adgra1 |
A |
G |
7: 139,432,492 (GRCm39) |
N110S |
probably damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,427,017 (GRCm39) |
T612A |
probably benign |
Het |
| Atp13a4 |
C |
T |
16: 29,290,706 (GRCm39) |
|
probably null |
Het |
| C1rb |
T |
C |
6: 124,553,984 (GRCm39) |
S352P |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,784,216 (GRCm39) |
I671T |
unknown |
Het |
| Cmas |
A |
G |
6: 142,710,105 (GRCm39) |
D116G |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,021,009 (GRCm39) |
V460A |
probably damaging |
Het |
| Cracdl |
G |
A |
1: 37,663,553 (GRCm39) |
R782C |
possibly damaging |
Het |
| Cubn |
T |
G |
2: 13,461,466 (GRCm39) |
D687A |
probably damaging |
Het |
| Cul9 |
A |
C |
17: 46,854,696 (GRCm39) |
V2G |
probably damaging |
Het |
| Elp3 |
T |
C |
14: 65,797,582 (GRCm39) |
Y382C |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,310,249 (GRCm39) |
I443K |
|
Het |
| Fdps |
G |
A |
3: 89,006,639 (GRCm39) |
R84W |
probably benign |
Het |
| Helz |
C |
T |
11: 107,547,019 (GRCm39) |
A1112V |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,380,782 (GRCm39) |
M3553K |
probably benign |
Het |
| Hspa12a |
T |
C |
19: 58,813,720 (GRCm39) |
Y135C |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,849 (GRCm39) |
Y296C |
probably benign |
Het |
| Ifna12 |
T |
G |
4: 88,521,079 (GRCm39) |
E156A |
possibly damaging |
Het |
| Ilf3 |
C |
T |
9: 21,314,434 (GRCm39) |
Q689* |
probably null |
Het |
| Ints1 |
A |
G |
5: 139,760,041 (GRCm39) |
|
probably null |
Het |
| Itga8 |
T |
A |
2: 12,235,019 (GRCm39) |
D413V |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,574,290 (GRCm39) |
L492F |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,774 (GRCm39) |
K825R |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,700,214 (GRCm39) |
I194T |
possibly damaging |
Het |
| Kmo |
A |
G |
1: 175,465,108 (GRCm39) |
R30G |
probably damaging |
Het |
| Krtap19-4 |
C |
A |
16: 88,681,801 (GRCm39) |
G52C |
unknown |
Het |
| Lyn |
A |
T |
4: 3,780,925 (GRCm39) |
M355L |
possibly damaging |
Het |
| Med13 |
A |
T |
11: 86,189,660 (GRCm39) |
L1083* |
probably null |
Het |
| Mfsd13a |
A |
G |
19: 46,354,900 (GRCm39) |
T26A |
probably benign |
Het |
| Mup14 |
T |
C |
4: 61,259,430 (GRCm39) |
I41V |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,804,906 (GRCm39) |
S1466T |
probably benign |
Het |
| Nampt |
T |
C |
12: 32,888,458 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
T |
C |
1: 60,317,885 (GRCm39) |
Y1941H |
probably damaging |
Het |
| Nyap2 |
C |
T |
1: 81,314,314 (GRCm39) |
A670V |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,487,794 (GRCm39) |
Y32C |
probably damaging |
Het |
| Or2aj6 |
A |
G |
16: 19,443,791 (GRCm39) |
S20P |
probably benign |
Het |
| Or4k44 |
T |
C |
2: 111,368,488 (GRCm39) |
I49V |
probably benign |
Het |
| Or4m1 |
T |
C |
14: 50,557,999 (GRCm39) |
I98V |
probably damaging |
Het |
| Or8g31-ps1 |
T |
C |
9: 39,276,416 (GRCm39) |
V187A |
unknown |
Het |
| Pcdh15 |
A |
G |
10: 74,221,731 (GRCm39) |
D677G |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,787,530 (GRCm39) |
S1373T |
probably benign |
Het |
| Ptprj |
T |
C |
2: 90,288,613 (GRCm39) |
D691G |
probably benign |
Het |
| Qpctl |
T |
A |
7: 18,880,961 (GRCm39) |
D157V |
probably damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,810,677 (GRCm39) |
F60L |
possibly damaging |
Het |
| Ripor1 |
T |
A |
8: 106,344,072 (GRCm39) |
L402Q |
possibly damaging |
Het |
| Rptn |
C |
T |
3: 93,304,412 (GRCm39) |
H582Y |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,996,990 (GRCm39) |
Q611L |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,610,817 (GRCm39) |
V4003A |
possibly damaging |
Het |
| Siglech |
T |
A |
7: 55,422,294 (GRCm39) |
W300R |
probably benign |
Het |
| Slc25a51 |
T |
C |
4: 45,399,494 (GRCm39) |
D232G |
probably damaging |
Het |
| Slc6a11 |
T |
A |
6: 114,220,905 (GRCm39) |
C479S |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,127,101 (GRCm39) |
T1970A |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,450,608 (GRCm39) |
G2599V |
probably damaging |
Het |
| Tfpt |
T |
A |
7: 3,627,604 (GRCm39) |
E116V |
probably null |
Het |
| Tmem260 |
T |
A |
14: 48,717,774 (GRCm39) |
V121E |
probably benign |
Het |
| Tmem54 |
T |
C |
4: 129,002,120 (GRCm39) |
F45L |
probably benign |
Het |
| Trim2 |
T |
A |
3: 84,080,128 (GRCm39) |
N631I |
probably damaging |
Het |
| Tshr |
C |
T |
12: 91,474,563 (GRCm39) |
T179I |
probably damaging |
Het |
| Vmn1r40 |
A |
G |
6: 89,691,198 (GRCm39) |
N5S |
probably benign |
Het |
| Vmn2r68 |
A |
G |
7: 84,871,420 (GRCm39) |
V621A |
possibly damaging |
Het |
| Zc2hc1c |
TTTATCC |
T |
12: 85,343,230 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
G |
A |
5: 106,783,944 (GRCm39) |
Q837* |
probably null |
Het |
| Zfp773 |
A |
T |
7: 7,135,989 (GRCm39) |
N202K |
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 |
|
R8991:Ksr1
|
UTSW |
11 |
78,936,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- AGAGCACCACGTTCTCATGC -3'
(R):5'- CTGTGTGTTCAGACAGAGAGGAC -3'
Sequencing Primer
(F):5'- GTTCTCATGCCGCGTCTG -3'
(R):5'- TGGCCAGCACTCCAGGAAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation