Incidental Mutation 'IGL01304:Ksr1'
ID |
73358 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ksr1
|
Ensembl Gene |
ENSMUSG00000018334 |
Gene Name |
kinase suppressor of ras 1 |
Synonyms |
D11Bhm183e, B-KSR1, D11Bhm184e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
IGL01304
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
78904266-79037233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78918468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 562
(Q562R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103899
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
AlphaFold |
Q61097 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018478
AA Change: Q562R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000018478 Gene: ENSMUSG00000018334 AA Change: Q562R
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 damaging
Transcript: ENSMUST00000108264
AA Change: Q562R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103899 Gene: ENSMUSG00000018334 AA Change: Q562R
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 |
noncoding transcript
Transcript: ENSMUST00000143473
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208969
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226282
AA Change: Q480R
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
Coding Region Coverage |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
Aplf |
A |
C |
6: 87,618,882 (GRCm39) |
S421A |
possibly damaging |
Het |
Arnt |
T |
G |
3: 95,355,696 (GRCm39) |
D13E |
probably damaging |
Het |
Asap1 |
T |
C |
15: 64,184,298 (GRCm39) |
E45G |
probably damaging |
Het |
C2cd2l |
T |
C |
9: 44,230,884 (GRCm39) |
N101S |
probably damaging |
Het |
Cby2 |
T |
A |
14: 75,830,085 (GRCm39) |
D36V |
possibly damaging |
Het |
Chmp7 |
G |
A |
14: 69,956,062 (GRCm39) |
P402L |
probably benign |
Het |
Cir1 |
A |
T |
2: 73,118,068 (GRCm39) |
|
probably null |
Het |
Clock |
A |
G |
5: 76,414,202 (GRCm39) |
|
probably null |
Het |
Col18a1 |
T |
G |
10: 76,911,975 (GRCm39) |
|
probably benign |
Het |
Csf2ra |
G |
A |
19: 61,215,271 (GRCm39) |
H115Y |
possibly damaging |
Het |
Cspg5 |
T |
A |
9: 110,085,236 (GRCm39) |
L469H |
probably damaging |
Het |
Dapk2 |
T |
C |
9: 66,139,139 (GRCm39) |
|
probably benign |
Het |
F13a1 |
T |
C |
13: 37,172,852 (GRCm39) |
D176G |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,194,817 (GRCm39) |
E1448G |
probably damaging |
Het |
Gtf2b |
C |
T |
3: 142,487,359 (GRCm39) |
S265L |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,498,675 (GRCm39) |
G4068D |
probably damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Lrif1 |
C |
T |
3: 106,639,049 (GRCm39) |
P20S |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,453,588 (GRCm39) |
T1194A |
possibly damaging |
Het |
Med18 |
C |
A |
4: 132,186,930 (GRCm39) |
A190S |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,151,324 (GRCm39) |
E105K |
probably damaging |
Het |
Mnt |
T |
A |
11: 74,733,011 (GRCm39) |
Y48N |
probably damaging |
Het |
Mpp4 |
A |
C |
1: 59,188,678 (GRCm39) |
|
probably null |
Het |
Or4b1b |
G |
A |
2: 90,112,425 (GRCm39) |
P165S |
possibly damaging |
Het |
Popdc3 |
T |
G |
10: 45,194,005 (GRCm39) |
S269A |
probably benign |
Het |
Ppp6r3 |
A |
T |
19: 3,517,261 (GRCm39) |
M662K |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,617,976 (GRCm39) |
Q945H |
probably damaging |
Het |
Rad52 |
A |
G |
6: 119,895,594 (GRCm39) |
E198G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,216,147 (GRCm39) |
V867A |
possibly damaging |
Het |
Rdh16 |
G |
T |
10: 127,649,365 (GRCm39) |
A274S |
probably benign |
Het |
Slco1a5 |
G |
T |
6: 142,187,876 (GRCm39) |
Q488K |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,635 (GRCm39) |
I47T |
probably benign |
Het |
Snw1 |
T |
C |
12: 87,500,685 (GRCm39) |
D358G |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,404,841 (GRCm39) |
F2878L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,902,771 (GRCm39) |
Y1386C |
probably damaging |
Het |
Tgfb2 |
A |
C |
1: 186,357,670 (GRCm39) |
I435S |
probably damaging |
Het |
Ttc9b |
G |
A |
7: 27,355,410 (GRCm39) |
D227N |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,448 (GRCm39) |
E243G |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,938,119 (GRCm39) |
D563G |
probably damaging |
Het |
Vmn1r77 |
T |
C |
7: 11,775,962 (GRCm39) |
V178A |
probably damaging |
Het |
Zfp316 |
A |
G |
5: 143,240,181 (GRCm39) |
F613L |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,101,980 (GRCm39) |
C450S |
possibly 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 |
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 |
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 |
|
Posted On |
2013-10-07 |