Incidental Mutation 'R7565:Rps6ka5'
ID |
585393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rps6ka5
|
Ensembl Gene |
ENSMUSG00000021180 |
Gene Name |
ribosomal protein S6 kinase, polypeptide 5 |
Synonyms |
3110005L17Rik, MSK1, 6330404E13Rik |
MMRRC Submission |
045710-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7565 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
100514692-100691693 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100582342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 177
(I177F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043599]
[ENSMUST00000222731]
|
AlphaFold |
Q8C050 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043599
AA Change: I177F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000042987 Gene: ENSMUSG00000021180 AA Change: I177F
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
S_TKc
|
48 |
317 |
1.08e-101 |
SMART |
S_TK_X
|
318 |
378 |
2.45e-13 |
SMART |
S_TKc
|
425 |
751 |
1.1e-75 |
SMART |
low complexity region
|
812 |
832 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221246
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222347
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222403
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222731
AA Change: I177F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.6989 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a mutant allele exhibit altered response to cocaine including decreased hyperlocomotor activity and sensitization at a lower dose. Mice homozygous for a kinase dead allele exhibit altered experience-dependent synaptic plasticity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9830107B12Rik |
T |
A |
17: 48,452,750 (GRCm39) |
Y63F |
possibly damaging |
Het |
Abi1 |
A |
T |
2: 22,836,596 (GRCm39) |
I421N |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,993,520 (GRCm39) |
I4935V |
probably benign |
Het |
Atg12 |
A |
C |
18: 46,867,551 (GRCm39) |
V131G |
probably damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG |
3: 95,795,456 (GRCm39) |
|
probably benign |
Het |
BC028528 |
CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT |
3: 95,795,450 (GRCm39) |
|
probably benign |
Het |
Bcl3 |
C |
T |
7: 19,546,419 (GRCm39) |
V139I |
probably damaging |
Het |
Bloc1s4 |
T |
A |
5: 36,905,689 (GRCm39) |
M101L |
probably benign |
Het |
Bmp6 |
C |
T |
13: 38,530,233 (GRCm39) |
Q109* |
probably null |
Het |
Cabyr |
C |
T |
18: 12,877,656 (GRCm39) |
T28I |
possibly damaging |
Het |
Catsper3 |
T |
C |
13: 55,932,538 (GRCm39) |
S22P |
probably benign |
Het |
Catsperg2 |
A |
T |
7: 29,412,406 (GRCm39) |
C395S |
probably null |
Het |
Cd101 |
T |
C |
3: 100,926,108 (GRCm39) |
T208A |
probably benign |
Het |
Chaf1a |
A |
G |
17: 56,371,148 (GRCm39) |
S678G |
probably benign |
Het |
Chrna2 |
A |
C |
14: 66,388,484 (GRCm39) |
I500L |
probably benign |
Het |
Cln6 |
C |
T |
9: 62,758,039 (GRCm39) |
T266I |
possibly damaging |
Het |
Col17a1 |
T |
A |
19: 47,659,963 (GRCm39) |
T330S |
possibly damaging |
Het |
Cyp2d40 |
A |
G |
15: 82,644,975 (GRCm39) |
V225A |
unknown |
Het |
Dnah10 |
A |
G |
5: 124,876,095 (GRCm39) |
N2645D |
probably damaging |
Het |
Dph5 |
T |
A |
3: 115,686,446 (GRCm39) |
V74D |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,000,435 (GRCm39) |
I586L |
probably damaging |
Het |
Elane |
G |
A |
10: 79,722,879 (GRCm39) |
R95Q |
probably benign |
Het |
Fbxw17 |
A |
G |
13: 50,587,398 (GRCm39) |
T453A |
probably damaging |
Het |
Fpr3 |
C |
A |
17: 18,191,227 (GRCm39) |
T166K |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,191,063 (GRCm39) |
I2724T |
probably benign |
Het |
Fsip2 |
C |
T |
2: 82,779,856 (GRCm39) |
R201C |
probably damaging |
Het |
Gm14496 |
A |
G |
2: 181,642,630 (GRCm39) |
N767S |
probably damaging |
Het |
Gm14496 |
T |
A |
2: 181,633,050 (GRCm39) |
F11Y |
possibly damaging |
Het |
Hyal4 |
T |
A |
6: 24,765,933 (GRCm39) |
M429K |
possibly damaging |
Het |
Itgad |
A |
T |
7: 127,782,187 (GRCm39) |
T208S |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,329,862 (GRCm39) |
L1552R |
probably benign |
Het |
Kcp |
C |
T |
6: 29,499,186 (GRCm39) |
C292Y |
probably damaging |
Het |
Kdr |
T |
C |
5: 76,109,503 (GRCm39) |
K958R |
probably damaging |
Het |
Klhl22 |
T |
A |
16: 17,607,148 (GRCm39) |
W485R |
probably damaging |
Het |
Ldhb |
T |
A |
6: 142,438,245 (GRCm39) |
I271F |
possibly damaging |
Het |
Lmo7 |
A |
G |
14: 102,122,737 (GRCm39) |
R309G |
probably damaging |
Het |
Marco |
C |
A |
1: 120,402,395 (GRCm39) |
C517F |
probably damaging |
Het |
Mpdz |
G |
A |
4: 81,221,891 (GRCm39) |
T1423I |
probably benign |
Het |
Ncoa2 |
T |
C |
1: 13,218,600 (GRCm39) |
S1410G |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,292,091 (GRCm39) |
N283S |
probably damaging |
Het |
Nlrp14 |
T |
A |
7: 106,781,094 (GRCm39) |
L97* |
probably null |
Het |
Olfm3 |
T |
G |
3: 114,916,393 (GRCm39) |
S442A |
probably damaging |
Het |
Or10p1 |
A |
G |
10: 129,444,029 (GRCm39) |
V107A |
possibly damaging |
Het |
Or14j10 |
T |
C |
17: 37,935,392 (GRCm39) |
I45V |
probably damaging |
Het |
Or2ag12 |
T |
C |
7: 106,277,333 (GRCm39) |
Y120C |
probably damaging |
Het |
Or5a1 |
T |
A |
19: 12,097,375 (GRCm39) |
S234C |
probably benign |
Het |
Or5an10 |
T |
C |
19: 12,276,212 (GRCm39) |
T95A |
probably benign |
Het |
Pank4 |
G |
A |
4: 155,065,007 (GRCm39) |
V769I |
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,216,336 (GRCm39) |
D1065N |
probably damaging |
Het |
Ppp1r12a |
G |
A |
10: 108,104,501 (GRCm39) |
S911N |
probably benign |
Het |
Prdx6b |
A |
G |
2: 80,123,334 (GRCm39) |
T48A |
probably damaging |
Het |
Pttg1ip |
A |
G |
10: 77,432,870 (GRCm39) |
K166E |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,078,987 (GRCm39) |
D9G |
|
Het |
Rpl13a |
C |
T |
7: 44,776,466 (GRCm39) |
G69S |
probably benign |
Het |
Rttn |
C |
A |
18: 89,078,603 (GRCm39) |
A1343E |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,575,539 (GRCm39) |
V4820I |
possibly damaging |
Het |
Slc12a7 |
A |
G |
13: 73,938,891 (GRCm39) |
I223V |
possibly damaging |
Het |
Slc9a3 |
G |
A |
13: 74,305,813 (GRCm39) |
V277M |
probably damaging |
Het |
Spata13 |
A |
T |
14: 60,989,298 (GRCm39) |
Y988F |
probably damaging |
Het |
Spata31e2 |
A |
T |
1: 26,724,351 (GRCm39) |
N276K |
probably benign |
Het |
Spo11 |
A |
G |
2: 172,833,864 (GRCm39) |
I329V |
possibly damaging |
Het |
Tcp11l2 |
A |
T |
10: 84,422,998 (GRCm39) |
D63V |
probably damaging |
Het |
Tdrd3 |
G |
A |
14: 87,744,029 (GRCm39) |
W659* |
probably null |
Het |
Thnsl2 |
T |
C |
6: 71,118,311 (GRCm39) |
D39G |
probably benign |
Het |
Thumpd1 |
A |
T |
7: 119,316,085 (GRCm39) |
L288* |
probably null |
Het |
Tram1l1 |
T |
C |
3: 124,115,556 (GRCm39) |
Y239H |
probably damaging |
Het |
Usp38 |
T |
A |
8: 81,708,601 (GRCm39) |
E992D |
probably damaging |
Het |
Usp45 |
A |
G |
4: 21,784,790 (GRCm39) |
T159A |
probably benign |
Het |
Vmn1r218 |
C |
T |
13: 23,320,830 (GRCm39) |
T59I |
probably benign |
Het |
Vmn2r70 |
T |
C |
7: 85,214,499 (GRCm39) |
I218V |
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,183,488 (GRCm39) |
I461V |
probably benign |
Het |
Ydjc |
T |
C |
16: 16,964,869 (GRCm39) |
L8P |
probably damaging |
Het |
Yme1l1 |
A |
T |
2: 23,050,232 (GRCm39) |
N21I |
possibly damaging |
Het |
Zfhx4 |
T |
C |
3: 5,455,426 (GRCm39) |
L1140P |
probably benign |
Het |
|
Other mutations in Rps6ka5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01072:Rps6ka5
|
APN |
12 |
100,540,157 (GRCm39) |
missense |
probably benign |
|
IGL01450:Rps6ka5
|
APN |
12 |
100,519,250 (GRCm39) |
splice site |
probably benign |
|
IGL01586:Rps6ka5
|
APN |
12 |
100,537,173 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01743:Rps6ka5
|
APN |
12 |
100,541,892 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02995:Rps6ka5
|
APN |
12 |
100,540,258 (GRCm39) |
intron |
probably benign |
|
IGL03051:Rps6ka5
|
APN |
12 |
100,582,250 (GRCm39) |
splice site |
probably null |
|
IGL03190:Rps6ka5
|
APN |
12 |
100,524,907 (GRCm39) |
splice site |
probably benign |
|
chard
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
Ramp
|
UTSW |
12 |
100,541,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
zwiebel
|
UTSW |
12 |
100,644,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R0055:Rps6ka5
|
UTSW |
12 |
100,644,839 (GRCm39) |
missense |
probably damaging |
0.97 |
R0055:Rps6ka5
|
UTSW |
12 |
100,644,839 (GRCm39) |
missense |
probably damaging |
0.97 |
R0067:Rps6ka5
|
UTSW |
12 |
100,582,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R0212:Rps6ka5
|
UTSW |
12 |
100,519,428 (GRCm39) |
splice site |
probably null |
|
R0761:Rps6ka5
|
UTSW |
12 |
100,537,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R0893:Rps6ka5
|
UTSW |
12 |
100,540,697 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1237:Rps6ka5
|
UTSW |
12 |
100,541,964 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1254:Rps6ka5
|
UTSW |
12 |
100,585,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R1447:Rps6ka5
|
UTSW |
12 |
100,544,084 (GRCm39) |
missense |
probably benign |
0.02 |
R1611:Rps6ka5
|
UTSW |
12 |
100,537,111 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2086:Rps6ka5
|
UTSW |
12 |
100,585,874 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2129:Rps6ka5
|
UTSW |
12 |
100,644,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R2298:Rps6ka5
|
UTSW |
12 |
100,517,713 (GRCm39) |
missense |
probably damaging |
0.99 |
R2432:Rps6ka5
|
UTSW |
12 |
100,520,664 (GRCm39) |
missense |
probably damaging |
0.98 |
R4378:Rps6ka5
|
UTSW |
12 |
100,564,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R4394:Rps6ka5
|
UTSW |
12 |
100,547,578 (GRCm39) |
missense |
probably damaging |
0.97 |
R4461:Rps6ka5
|
UTSW |
12 |
100,537,123 (GRCm39) |
missense |
probably damaging |
0.99 |
R4584:Rps6ka5
|
UTSW |
12 |
100,547,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Rps6ka5
|
UTSW |
12 |
100,620,546 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4706:Rps6ka5
|
UTSW |
12 |
100,564,144 (GRCm39) |
splice site |
probably null |
|
R4706:Rps6ka5
|
UTSW |
12 |
100,547,578 (GRCm39) |
missense |
probably damaging |
0.97 |
R4707:Rps6ka5
|
UTSW |
12 |
100,564,144 (GRCm39) |
splice site |
probably null |
|
R4966:Rps6ka5
|
UTSW |
12 |
100,519,325 (GRCm39) |
missense |
probably benign |
0.01 |
R5059:Rps6ka5
|
UTSW |
12 |
100,520,634 (GRCm39) |
missense |
probably damaging |
0.96 |
R5404:Rps6ka5
|
UTSW |
12 |
100,582,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R5660:Rps6ka5
|
UTSW |
12 |
100,585,839 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5678:Rps6ka5
|
UTSW |
12 |
100,691,135 (GRCm39) |
missense |
unknown |
|
R5992:Rps6ka5
|
UTSW |
12 |
100,541,509 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6104:Rps6ka5
|
UTSW |
12 |
100,519,407 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6163:Rps6ka5
|
UTSW |
12 |
100,562,179 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6390:Rps6ka5
|
UTSW |
12 |
100,537,251 (GRCm39) |
missense |
probably damaging |
0.99 |
R6599:Rps6ka5
|
UTSW |
12 |
100,564,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R6653:Rps6ka5
|
UTSW |
12 |
100,517,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R6693:Rps6ka5
|
UTSW |
12 |
100,540,088 (GRCm39) |
missense |
probably benign |
0.11 |
R7009:Rps6ka5
|
UTSW |
12 |
100,585,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R7157:Rps6ka5
|
UTSW |
12 |
100,547,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R7196:Rps6ka5
|
UTSW |
12 |
100,562,123 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7510:Rps6ka5
|
UTSW |
12 |
100,582,327 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7800:Rps6ka5
|
UTSW |
12 |
100,524,824 (GRCm39) |
missense |
probably damaging |
0.97 |
R7843:Rps6ka5
|
UTSW |
12 |
100,519,408 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8009:Rps6ka5
|
UTSW |
12 |
100,544,048 (GRCm39) |
missense |
probably damaging |
0.97 |
R8057:Rps6ka5
|
UTSW |
12 |
100,540,055 (GRCm39) |
critical splice donor site |
probably null |
|
R8292:Rps6ka5
|
UTSW |
12 |
100,644,791 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8324:Rps6ka5
|
UTSW |
12 |
100,524,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8428:Rps6ka5
|
UTSW |
12 |
100,541,500 (GRCm39) |
nonsense |
probably null |
|
R8913:Rps6ka5
|
UTSW |
12 |
100,520,595 (GRCm39) |
missense |
|
|
R9711:Rps6ka5
|
UTSW |
12 |
100,540,250 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCACTCAAGCAGTCTCATATTTG -3'
(R):5'- TACATTTGGAGAGCCTGGGG -3'
Sequencing Primer
(F):5'- GCAGTCTCATATTTGAATAAGCCTGC -3'
(R):5'- GAAGCCAGCCCCTGAGC -3'
|
Posted On |
2019-10-17 |