Incidental Mutation 'R4090:Ksr1'
| ID |
317572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ksr1
|
| Ensembl Gene |
ENSMUSG00000018334 |
| Gene Name |
kinase suppressor of ras 1 |
| Synonyms |
D11Bhm183e, B-KSR1, D11Bhm184e |
| MMRRC Submission |
040983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R4090 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78904266-79037233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78918303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 535
(E535G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018478]
[ENSMUST00000108264]
[ENSMUST00000208969]
[ENSMUST00000226282]
|
| AlphaFold |
Q61097 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018478
AA Change: E617G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: E617G
| 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: E617G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: E617G
| 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: E535G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2188 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,141,378 (GRCm39) |
K268E |
probably damaging |
Het |
| Arhgef2 |
G |
C |
3: 88,551,185 (GRCm39) |
R765P |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,972,349 (GRCm39) |
K840E |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,175,506 (GRCm39) |
R245G |
possibly damaging |
Het |
| Cd36 |
A |
G |
5: 17,990,718 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
| Cplane1 |
T |
A |
15: 8,241,842 (GRCm39) |
|
probably null |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
| Fam83f |
A |
T |
15: 80,576,393 (GRCm39) |
N348I |
possibly damaging |
Het |
| Gja8 |
A |
G |
3: 96,826,468 (GRCm39) |
V398A |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm12789 |
A |
T |
4: 101,845,526 (GRCm39) |
T72S |
possibly damaging |
Het |
| Gm1988 |
A |
G |
7: 38,820,292 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21370 |
A |
G |
13: 120,488,489 (GRCm39) |
V20A |
probably benign |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hsd17b13 |
T |
A |
5: 104,113,720 (GRCm39) |
S245C |
probably benign |
Het |
| Htr1f |
T |
C |
16: 64,746,324 (GRCm39) |
K323E |
probably benign |
Het |
| Igkc |
T |
C |
6: 70,703,442 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
A |
T |
5: 135,161,381 (GRCm39) |
E433D |
probably benign |
Het |
| Npc1 |
T |
C |
18: 12,331,219 (GRCm39) |
|
probably null |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1e29 |
A |
G |
11: 73,667,667 (GRCm39) |
L162P |
probably damaging |
Het |
| Or6y1 |
A |
G |
1: 174,276,500 (GRCm39) |
T104A |
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,768,398 (GRCm39) |
I159T |
probably benign |
Het |
| Pcdha3 |
A |
G |
18: 37,081,504 (GRCm39) |
R749G |
probably benign |
Het |
| Ppme1 |
A |
T |
7: 99,997,044 (GRCm39) |
N122K |
possibly damaging |
Het |
| Rasal1 |
G |
A |
5: 120,813,674 (GRCm39) |
V657M |
possibly damaging |
Het |
| Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
| Rragd |
C |
T |
4: 33,007,155 (GRCm39) |
T161M |
probably damaging |
Het |
| Slurp1 |
T |
C |
15: 74,598,724 (GRCm39) |
H89R |
possibly damaging |
Het |
| Snap23 |
A |
G |
2: 120,416,061 (GRCm39) |
I42V |
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Taar8a |
T |
A |
10: 23,953,062 (GRCm39) |
V222E |
probably damaging |
Het |
| Tmem171 |
A |
T |
13: 98,829,096 (GRCm39) |
V18D |
probably damaging |
Het |
| Topors |
T |
C |
4: 40,260,794 (GRCm39) |
D830G |
unknown |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Tubg1 |
T |
A |
11: 101,015,364 (GRCm39) |
M270K |
possibly damaging |
Het |
| Vmn1r188 |
T |
C |
13: 22,272,772 (GRCm39) |
V242A |
probably benign |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,720 (GRCm39) |
I91N |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,239,412 (GRCm39) |
M384L |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,030,679 (GRCm39) |
E205G |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zfp398 |
T |
A |
6: 47,843,159 (GRCm39) |
C272S |
probably damaging |
Het |
| Zfp975 |
A |
G |
7: 42,312,298 (GRCm39) |
V105A |
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 |
|
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 |
|
|
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'- AGAAACGATGCTTCATCTTTGCC -3'
(R):5'- AGCGTTTACCTGCAAGAGTGG -3'
Sequencing Primer
(F):5'- GATGCTTCATCTTTGCCTTTCTTCG -3'
(R):5'- TTTACCTGCAAGAGTGGGACATCC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation