Incidental Mutation 'IGL03010:Rps6kc1'
| ID |
407739 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rps6kc1
|
| Ensembl Gene |
ENSMUSG00000089872 |
| Gene Name |
ribosomal protein S6 kinase polypeptide 1 |
| Synonyms |
B130003F20Rik, RPK118 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03010
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
190505076-190645207 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 190643803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 19
(E19*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125010
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061611]
[ENSMUST00000159066]
[ENSMUST00000159367]
[ENSMUST00000159624]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000061611
AA Change: E19*
|
| SMART Domains |
Protein: ENSMUSP00000061769
Gene: ENSMUSG00000089872
AA Change: E19*
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
9 |
128 |
1.26e-13 |
SMART |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
MIT
|
235 |
313 |
1.12e-20 |
SMART |
|
low complexity region
|
317 |
332 |
N/A |
INTRINSIC |
|
SCOP:d1apme_
|
347 |
417 |
2e-5 |
SMART |
|
low complexity region
|
443 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
863 |
1046 |
4.4e-26 |
PFAM |
|
Pfam:Pkinase_Tyr
|
876 |
1032 |
5.5e-10 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159066
AA Change: E19*
|
| SMART Domains |
Protein: ENSMUSP00000124558
Gene: ENSMUSG00000089872
AA Change: E19*
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
9 |
116 |
1.36e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159367
AA Change: E19*
|
| SMART Domains |
Protein: ENSMUSP00000124383
Gene: ENSMUSG00000089872
AA Change: E19*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PX
|
9 |
50 |
4e-22 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159624
AA Change: E19*
|
| SMART Domains |
Protein: ENSMUSP00000125010
Gene: ENSMUSG00000089872
AA Change: E19*
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
9 |
128 |
1.26e-13 |
SMART |
|
low complexity region
|
160 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
211 |
N/A |
INTRINSIC |
|
Pfam:MIT
|
238 |
299 |
6.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162500
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Adamts4 |
T |
C |
1: 171,078,985 (GRCm39) |
C202R |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,876,390 (GRCm39) |
D409G |
probably benign |
Het |
| Atp6v1b2 |
T |
C |
8: 69,558,534 (GRCm39) |
I334T |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,670,375 (GRCm39) |
Y119* |
probably null |
Het |
| Cct2 |
T |
C |
10: 116,894,019 (GRCm39) |
D245G |
probably damaging |
Het |
| Ercc2 |
A |
G |
7: 19,125,491 (GRCm39) |
K486E |
possibly damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,508 (GRCm39) |
S273G |
possibly damaging |
Het |
| Fbxw24 |
T |
A |
9: 109,452,678 (GRCm39) |
I106L |
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,361,742 (GRCm39) |
I303T |
probably damaging |
Het |
| Habp2 |
T |
C |
19: 56,299,655 (GRCm39) |
|
probably null |
Het |
| Haus3 |
T |
A |
5: 34,323,631 (GRCm39) |
E326D |
probably benign |
Het |
| Hdac7 |
C |
T |
15: 97,691,810 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
A |
19: 36,593,002 (GRCm39) |
D722E |
probably benign |
Het |
| Il20ra |
G |
T |
10: 19,624,960 (GRCm39) |
G80W |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,935,118 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 42,213,618 (GRCm39) |
S65P |
possibly damaging |
Het |
| Lypd2 |
A |
G |
15: 74,606,102 (GRCm39) |
I12T |
probably benign |
Het |
| Nat2 |
T |
A |
8: 67,954,664 (GRCm39) |
L258Q |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,688 (GRCm39) |
|
probably benign |
Het |
| Or2y1b |
T |
A |
11: 49,208,973 (GRCm39) |
V200E |
probably damaging |
Het |
| Or5ac24 |
A |
G |
16: 59,165,135 (GRCm39) |
|
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,843 (GRCm39) |
C94F |
probably damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,221,777 (GRCm39) |
D692E |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,371,262 (GRCm39) |
H134N |
probably damaging |
Het |
| Prmt8 |
T |
C |
6: 127,706,498 (GRCm39) |
T98A |
probably benign |
Het |
| Rrp8 |
A |
G |
7: 105,383,598 (GRCm39) |
S223P |
probably benign |
Het |
| Septin10 |
G |
A |
10: 59,006,777 (GRCm39) |
|
probably benign |
Het |
| Serpinb7 |
T |
C |
1: 107,379,741 (GRCm39) |
|
probably benign |
Het |
| Spaca6 |
C |
A |
17: 18,058,667 (GRCm39) |
Q72K |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,233,419 (GRCm39) |
H712R |
probably benign |
Het |
| Spg11 |
C |
A |
2: 121,918,801 (GRCm39) |
A943S |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,134,360 (GRCm39) |
S298P |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,565,432 (GRCm39) |
I28265T |
probably damaging |
Het |
| Usp33 |
G |
T |
3: 152,074,233 (GRCm39) |
V360F |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,175,038 (GRCm39) |
T550A |
possibly damaging |
Het |
| Zscan4d |
A |
T |
7: 10,897,070 (GRCm39) |
V128D |
probably damaging |
Het |
|
| Other mutations in Rps6kc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Rps6kc1
|
APN |
1 |
190,505,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Rps6kc1
|
APN |
1 |
190,515,822 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01331:Rps6kc1
|
APN |
1 |
190,532,549 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01551:Rps6kc1
|
APN |
1 |
190,505,837 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01665:Rps6kc1
|
APN |
1 |
190,643,854 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02178:Rps6kc1
|
APN |
1 |
190,604,033 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02550:Rps6kc1
|
APN |
1 |
190,604,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02986:Rps6kc1
|
APN |
1 |
190,566,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Rps6kc1
|
APN |
1 |
190,603,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Rps6kc1
|
APN |
1 |
190,532,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Rps6kc1
|
APN |
1 |
190,604,026 (GRCm39) |
missense |
probably benign |
|
|
IGL03386:Rps6kc1
|
APN |
1 |
190,531,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0184:Rps6kc1
|
UTSW |
1 |
190,531,290 (GRCm39) |
missense |
probably null |
1.00 |
|
R0280:Rps6kc1
|
UTSW |
1 |
190,541,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0482:Rps6kc1
|
UTSW |
1 |
190,531,627 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0651:Rps6kc1
|
UTSW |
1 |
190,531,693 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0785:Rps6kc1
|
UTSW |
1 |
190,541,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1398:Rps6kc1
|
UTSW |
1 |
190,532,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1428:Rps6kc1
|
UTSW |
1 |
190,530,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Rps6kc1
|
UTSW |
1 |
190,531,672 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1536:Rps6kc1
|
UTSW |
1 |
190,603,965 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1709:Rps6kc1
|
UTSW |
1 |
190,532,533 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2060:Rps6kc1
|
UTSW |
1 |
190,542,305 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2153:Rps6kc1
|
UTSW |
1 |
190,530,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Rps6kc1
|
UTSW |
1 |
190,631,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Rps6kc1
|
UTSW |
1 |
190,631,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4177:Rps6kc1
|
UTSW |
1 |
190,532,616 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4231:Rps6kc1
|
UTSW |
1 |
190,541,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4401:Rps6kc1
|
UTSW |
1 |
190,532,155 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4402:Rps6kc1
|
UTSW |
1 |
190,530,802 (GRCm39) |
intron |
probably benign |
|
|
R4785:Rps6kc1
|
UTSW |
1 |
190,482,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4810:Rps6kc1
|
UTSW |
1 |
190,541,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4858:Rps6kc1
|
UTSW |
1 |
190,532,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Rps6kc1
|
UTSW |
1 |
190,530,891 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4976:Rps6kc1
|
UTSW |
1 |
190,530,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5134:Rps6kc1
|
UTSW |
1 |
190,505,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Rps6kc1
|
UTSW |
1 |
190,515,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Rps6kc1
|
UTSW |
1 |
190,531,663 (GRCm39) |
missense |
probably benign |
|
|
R5952:Rps6kc1
|
UTSW |
1 |
190,617,617 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5979:Rps6kc1
|
UTSW |
1 |
190,532,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Rps6kc1
|
UTSW |
1 |
190,482,381 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7024:Rps6kc1
|
UTSW |
1 |
190,532,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7192:Rps6kc1
|
UTSW |
1 |
190,532,556 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7423:Rps6kc1
|
UTSW |
1 |
190,531,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Rps6kc1
|
UTSW |
1 |
190,532,254 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7718:Rps6kc1
|
UTSW |
1 |
190,604,022 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7783:Rps6kc1
|
UTSW |
1 |
190,505,851 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7794:Rps6kc1
|
UTSW |
1 |
190,515,825 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7972:Rps6kc1
|
UTSW |
1 |
190,531,321 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9236:Rps6kc1
|
UTSW |
1 |
190,532,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9370:Rps6kc1
|
UTSW |
1 |
190,531,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9586:Rps6kc1
|
UTSW |
1 |
190,514,774 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9756:Rps6kc1
|
UTSW |
1 |
190,604,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation