Incidental Mutation 'R0711:Ksr1'
| ID |
62750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr1
|
| Ensembl Gene |
ENSMUSG00000018334 |
| Gene Name |
kinase suppressor of ras 1 |
| Synonyms |
D11Bhm183e, B-KSR1, D11Bhm184e |
| MMRRC Submission |
038894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R0711 (G1)
|
| Quality Score |
156 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78904266-79037233 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 78929073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
| AlphaFold |
Q61097 |
| Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000208969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226282
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (91/91) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,773,986 (GRCm39) |
D1058E |
probably damaging |
Het |
| 4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
| Afdn |
C |
T |
17: 14,072,698 (GRCm39) |
P874S |
probably damaging |
Het |
| Ankrd6 |
G |
A |
4: 32,815,326 (GRCm39) |
A391V |
probably damaging |
Het |
| Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,657,508 (GRCm39) |
M1839I |
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,726,226 (GRCm39) |
|
probably null |
Het |
| Chid1 |
C |
T |
7: 141,076,590 (GRCm39) |
V325I |
probably benign |
Het |
| Cnn3 |
T |
A |
3: 121,243,633 (GRCm39) |
D31E |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,559,317 (GRCm39) |
P1857L |
probably damaging |
Het |
| Cpeb1 |
T |
A |
7: 81,001,618 (GRCm39) |
R430W |
probably benign |
Het |
| Daw1 |
T |
C |
1: 83,169,059 (GRCm39) |
|
probably benign |
Het |
| Dcaf13 |
A |
G |
15: 39,001,484 (GRCm39) |
Y264C |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,064,585 (GRCm39) |
I2666V |
probably damaging |
Het |
| Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,501,692 (GRCm39) |
F1833I |
probably damaging |
Het |
| Efhd2 |
C |
T |
4: 141,587,183 (GRCm39) |
A200T |
probably damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Gkn2 |
T |
C |
6: 87,350,401 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
T |
16: 36,739,152 (GRCm39) |
Q2497L |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,196 (GRCm39) |
M245K |
probably damaging |
Het |
| Iars2 |
A |
T |
1: 185,054,585 (GRCm39) |
|
probably benign |
Het |
| Icosl |
T |
A |
10: 77,909,775 (GRCm39) |
V240D |
probably damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,709 (GRCm39) |
M262T |
probably benign |
Het |
| Ing3 |
G |
T |
6: 21,971,236 (GRCm39) |
E336* |
probably null |
Het |
| Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
| Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
| Mdfi |
A |
T |
17: 48,143,855 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,192,179 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
C |
T |
17: 88,294,112 (GRCm39) |
R956C |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,774,664 (GRCm39) |
E670G |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,509,018 (GRCm39) |
D266G |
probably damaging |
Het |
| Or51ai2 |
G |
A |
7: 103,587,024 (GRCm39) |
A146T |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,899,447 (GRCm39) |
N54K |
probably benign |
Het |
| Pde8b |
C |
G |
13: 95,244,325 (GRCm39) |
S143T |
possibly damaging |
Het |
| Pias4 |
G |
T |
10: 80,993,364 (GRCm39) |
|
probably benign |
Het |
| Prkca |
A |
G |
11: 107,872,480 (GRCm39) |
Y427H |
probably benign |
Het |
| Psg25 |
G |
A |
7: 18,263,485 (GRCm39) |
Q113* |
probably null |
Het |
| Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,938,756 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
| Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
| Serpinb9f |
T |
A |
13: 33,511,904 (GRCm39) |
W136R |
probably damaging |
Het |
| Skic3 |
C |
T |
13: 76,331,010 (GRCm39) |
P1480L |
probably damaging |
Het |
| Skint10 |
C |
A |
4: 112,573,102 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
C |
6: 6,117,128 (GRCm39) |
T196A |
probably damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,052,230 (GRCm39) |
H33R |
probably damaging |
Het |
| Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,987,251 (GRCm39) |
Y819N |
probably damaging |
Het |
| Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
| Tmco3 |
T |
A |
8: 13,342,039 (GRCm39) |
N104K |
probably damaging |
Het |
| Tmem200c |
A |
G |
17: 69,149,249 (GRCm39) |
T611A |
probably damaging |
Het |
| Tmem202 |
T |
G |
9: 59,432,655 (GRCm39) |
Y24S |
probably damaging |
Het |
| Tpp1 |
A |
G |
7: 105,398,626 (GRCm39) |
L230P |
probably damaging |
Het |
| Trim56 |
C |
T |
5: 137,141,846 (GRCm39) |
E557K |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,790,309 (GRCm39) |
L3590F |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
| Vcp |
G |
C |
4: 42,986,201 (GRCm39) |
A297G |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,603,234 (GRCm39) |
H861Q |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,599,751 (GRCm39) |
I536T |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,698 (GRCm39) |
N170S |
probably benign |
Het |
| Zfp87 |
G |
A |
13: 74,524,544 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- ACTCTGATGTGACAGGAGGCCAAG -3'
(R):5'- AGAACTGCTAGATCCGAGGGTGTG -3'
Sequencing Primer
(F):5'- CAGGAGGCCAAGAATGAAATAAC -3'
(R):5'- TGCCCACTGATGCGGATTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation