Incidental Mutation 'R6885:Ksr1'
| ID |
536805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr1
|
| Ensembl Gene |
ENSMUSG00000018334 |
| Gene Name |
kinase suppressor of ras 1 |
| Synonyms |
D11Bhm183e, B-KSR1, D11Bhm184e |
| MMRRC Submission |
045031-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6885 (G1)
|
| Quality Score |
222.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78904266-79037233 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 78938121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000129463]
[ENSMUST00000141409]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
| AlphaFold |
Q61097 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018478
|
| SMART Domains |
Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
| 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 null
Transcript: ENSMUST00000108264
|
| SMART Domains |
Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
| 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 null
Transcript: ENSMUST00000129463
|
| SMART Domains |
Protein: ENSMUSP00000114538
Gene: ENSMUSG00000018334
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KSR1-SAM
|
1 |
46 |
5.9e-13 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000141409
|
| SMART Domains |
Protein: ENSMUSP00000116407
Gene: ENSMUSG00000018334
| 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 null
Transcript: ENSMUST00000208969
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000226282
|
| Meta Mutation Damage Score |
0.9500 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (58/59) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,119,332 (GRCm39) |
I1025M |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,465 (GRCm39) |
T164S |
probably benign |
Het |
| Ankar |
C |
T |
1: 72,682,195 (GRCm39) |
A1239T |
unknown |
Het |
| Aox4 |
A |
T |
1: 58,303,537 (GRCm39) |
S1192C |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 80,159,982 (GRCm39) |
D68G |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,691,919 (GRCm39) |
I228V |
probably benign |
Het |
| Catsper4 |
T |
C |
4: 133,942,460 (GRCm39) |
T231A |
probably benign |
Het |
| Ccl12 |
A |
T |
11: 81,993,523 (GRCm39) |
T54S |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,140,980 (GRCm39) |
|
probably null |
Het |
| Cog5 |
T |
A |
12: 31,944,198 (GRCm39) |
D694E |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,305,208 (GRCm39) |
|
probably benign |
Het |
| Crot |
T |
C |
5: 9,023,635 (GRCm39) |
T418A |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,323,089 (GRCm39) |
P2826L |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,981,598 (GRCm39) |
F1698L |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,124,742 (GRCm39) |
D1019E |
possibly damaging |
Het |
| Eps15 |
A |
G |
4: 109,166,361 (GRCm39) |
N85D |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,706,889 (GRCm39) |
S457P |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 52,965,088 (GRCm39) |
T426I |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,489 (GRCm39) |
S747P |
possibly damaging |
Het |
| Gas7 |
A |
G |
11: 67,574,213 (GRCm39) |
D396G |
probably damaging |
Het |
| Gm5114 |
G |
T |
7: 39,057,580 (GRCm39) |
R680S |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,395,994 (GRCm39) |
L94M |
possibly damaging |
Het |
| Gse1 |
C |
A |
8: 120,956,221 (GRCm39) |
|
probably benign |
Het |
| Hmgb1 |
T |
C |
5: 148,987,471 (GRCm39) |
E26G |
probably benign |
Het |
| Incenp |
C |
T |
19: 9,852,496 (GRCm39) |
R714Q |
unknown |
Het |
| Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
| Lpin2 |
T |
G |
17: 71,522,145 (GRCm39) |
S60A |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,649,927 (GRCm39) |
|
probably null |
Het |
| Mafb |
A |
G |
2: 160,207,939 (GRCm39) |
S220P |
possibly damaging |
Het |
| Maml3 |
TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
3: 51,605,000 (GRCm39) |
|
|
Het |
| Mcmbp |
T |
C |
7: 128,326,833 (GRCm39) |
|
probably null |
Het |
| Or1e30 |
A |
T |
11: 73,677,926 (GRCm39) |
H54L |
possibly damaging |
Het |
| Or4s2 |
A |
G |
2: 88,473,941 (GRCm39) |
T277A |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,096 (GRCm39) |
S29P |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,742,069 (GRCm39) |
T146A |
possibly damaging |
Het |
| Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,392,792 (GRCm39) |
F126Y |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,257 (GRCm39) |
M222T |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,355,693 (GRCm39) |
N37S |
probably benign |
Het |
| Pramel25 |
T |
C |
4: 143,520,103 (GRCm39) |
C116R |
probably damaging |
Het |
| Psme4 |
A |
T |
11: 30,784,307 (GRCm39) |
K961* |
probably null |
Het |
| Rbpj |
T |
C |
5: 53,810,493 (GRCm39) |
W392R |
probably damaging |
Het |
| Reg3a |
T |
A |
6: 78,358,038 (GRCm39) |
|
probably null |
Het |
| Rfc3 |
C |
T |
5: 151,571,749 (GRCm39) |
S85N |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,696 (GRCm39) |
T80A |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,659,985 (GRCm39) |
T195A |
probably damaging |
Het |
| Ska1 |
A |
G |
18: 74,339,910 (GRCm39) |
V12A |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
| Slc26a5 |
A |
T |
5: 22,039,342 (GRCm39) |
V217D |
probably damaging |
Het |
| Slc46a1 |
A |
G |
11: 78,357,805 (GRCm39) |
D286G |
probably benign |
Het |
| Spata2l |
A |
T |
8: 123,962,297 (GRCm39) |
L88Q |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,088,634 (GRCm39) |
Q876P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,914,407 (GRCm39) |
I2377F |
possibly damaging |
Het |
| Thbs4 |
A |
T |
13: 92,899,377 (GRCm39) |
D539E |
probably damaging |
Het |
| Tmem154 |
T |
A |
3: 84,599,813 (GRCm39) |
C162S |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,682,502 (GRCm39) |
E502G |
probably benign |
Het |
| Traf7 |
G |
A |
17: 24,731,266 (GRCm39) |
R257C |
probably benign |
Het |
| Tsc22d2 |
T |
C |
3: 58,323,629 (GRCm39) |
Y174H |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,594,230 (GRCm39) |
E802G |
probably damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,963,042 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vmn2r99 |
T |
A |
17: 19,600,457 (GRCm39) |
S494T |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,568,517 (GRCm39) |
F856L |
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 |
|
|
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 |
|
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'- GGGCCAAGACCCAGTATATTTTC -3'
(R):5'- TTCTAGTCAGAGGCTGTCCG -3'
Sequencing Primer
(F):5'- GACCCAGTATATTTTCTAAACAGCC -3'
(R):5'- TGTCCGAGACAGCAGCTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation