Incidental Mutation 'U24488:Ksr1'
| ID |
509884 |
| Institutional Source |
Beutler Lab
|
| 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: 0.124)
|
| Stock # |
U24488 (G0')
|
| Quality Score |
139.008 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
78904266-79037233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78938267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 42
(I42F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000129463]
[ENSMUST00000141409]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
| AlphaFold |
Q61097 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018478
AA Change: I124F
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: I124F
| 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: I124F
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: I124F
| 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: I4F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114538
Gene: ENSMUSG00000018334
AA Change: I4F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KSR1-SAM
|
1 |
46 |
5.9e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141409
AA Change: I42F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116407
Gene: ENSMUSG00000018334
AA Change: I42F
| 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 damaging
Transcript: ENSMUST00000208969
AA Change: I49F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226282
AA Change: I42F
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,580,772 (GRCm39) |
Y922C |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,235,673 (GRCm39) |
T1185A |
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,022,537 (GRCm39) |
N72S |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,579,954 (GRCm39) |
E567V |
probably damaging |
Het |
| Chmp1b |
T |
A |
18: 67,338,945 (GRCm39) |
L125Q |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,927 (GRCm39) |
N438K |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,211,694 (GRCm39) |
G345C |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,573,795 (GRCm39) |
T2091M |
probably damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,108,204 (GRCm39) |
H342L |
possibly damaging |
Het |
| Dnah10 |
G |
A |
5: 124,891,044 (GRCm39) |
D3212N |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,374,648 (GRCm39) |
T1447I |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,695,349 (GRCm39) |
S540P |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,437 (GRCm39) |
H120L |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,940,653 (GRCm39) |
S433P |
probably damaging |
Het |
| Fundc1 |
G |
T |
X: 17,434,342 (GRCm39) |
A64E |
probably damaging |
Het |
| Garin2 |
A |
T |
12: 78,761,811 (GRCm39) |
K158N |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,302,534 (GRCm39) |
E933G |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hoxb3 |
C |
A |
11: 96,235,456 (GRCm39) |
Q128K |
probably benign |
Het |
| Il6st |
C |
T |
13: 112,631,168 (GRCm39) |
T369M |
possibly damaging |
Het |
| Itk |
A |
C |
11: 46,228,971 (GRCm39) |
M403R |
probably damaging |
Het |
| Katnip |
A |
T |
7: 125,369,853 (GRCm39) |
D147V |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,039,639 (GRCm39) |
Q17R |
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,610,604 (GRCm39) |
I28T |
possibly damaging |
Het |
| Kit |
A |
T |
5: 75,783,674 (GRCm39) |
R384* |
probably null |
Het |
| Lhcgr |
T |
A |
17: 89,079,513 (GRCm39) |
|
probably null |
Het |
| Lrrc36 |
C |
T |
8: 106,176,384 (GRCm39) |
H253Y |
probably benign |
Het |
| Mad1l1 |
T |
A |
5: 140,300,840 (GRCm39) |
N19Y |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,950,230 (GRCm39) |
L1022* |
probably null |
Het |
| Mical3 |
T |
G |
6: 120,978,457 (GRCm39) |
Q225P |
possibly damaging |
Het |
| Minar1 |
C |
A |
9: 89,485,100 (GRCm39) |
G99V |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,876,895 (GRCm39) |
M182K |
unknown |
Het |
| Nepro |
A |
G |
16: 44,554,949 (GRCm39) |
T342A |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,117,653 (GRCm39) |
D459V |
possibly damaging |
Het |
| Nrcam |
C |
T |
12: 44,584,042 (GRCm39) |
P39S |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
| Ostm1 |
A |
G |
10: 42,555,227 (GRCm39) |
D83G |
possibly damaging |
Het |
| Otoa |
A |
T |
7: 120,717,763 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,143,040 (GRCm39) |
I824T |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,061,930 (GRCm39) |
R2534H |
probably benign |
Het |
| Plin2 |
A |
G |
4: 86,580,314 (GRCm39) |
V60A |
probably damaging |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,724 (GRCm39) |
L367P |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,005,182 (GRCm39) |
N912D |
probably damaging |
Het |
| Slc25a21 |
G |
T |
12: 56,785,282 (GRCm39) |
N198K |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 61,877,002 (GRCm39) |
D5G |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,028,815 (GRCm39) |
V438A |
probably benign |
Het |
| Tmem37 |
T |
C |
1: 119,995,684 (GRCm39) |
Y131C |
probably benign |
Het |
| Top2a |
A |
C |
11: 98,913,252 (GRCm39) |
M60R |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,162,963 (GRCm39) |
T1015I |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,171 (GRCm39) |
I19F |
probably benign |
Het |
| Vmn1r230 |
A |
C |
17: 21,067,014 (GRCm39) |
I68L |
probably benign |
Het |
| Vmn2r45 |
A |
C |
7: 8,475,361 (GRCm39) |
C556G |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,356 (GRCm39) |
I742T |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,813,198 (GRCm39) |
K960E |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,900,405 (GRCm39) |
V87E |
probably damaging |
Het |
| Wiz |
C |
T |
17: 32,606,649 (GRCm39) |
E29K |
probably damaging |
Het |
| Wnk3 |
C |
T |
X: 149,992,456 (GRCm39) |
T298I |
probably damaging |
Het |
| Yif1b |
A |
C |
7: 28,943,594 (GRCm39) |
Q56P |
probably benign |
Het |
| Zbtb25 |
A |
G |
12: 76,396,014 (GRCm39) |
W403R |
probably benign |
Het |
| Zcrb1 |
A |
T |
15: 93,285,515 (GRCm39) |
S155R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,453 (GRCm39) |
I150K |
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 |
|
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 |
|
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 |
|
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'- TATCCCAAGGTCGACTCTGG -3'
(R):5'- AAAGGTGGCACTCTGCTCAG -3'
Sequencing Primer
(F):5'- GACTCTGGCAGAAGTCCCATCTC -3'
(R):5'- AGCTGCTGTCTCTGACCAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation