Incidental Mutation 'IGL03390:Rimklb'
ID |
421037 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rimklb
|
Ensembl Gene |
ENSMUSG00000040649 |
Gene Name |
ribosomal modification protein rimK-like family member B |
Synonyms |
4931417E21Rik, 4933426K21Rik, NAAGS |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03390
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
122424255-122464021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 122433280 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 347
(S347N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068242]
[ENSMUST00000146274]
[ENSMUST00000204731]
|
AlphaFold |
Q80WS1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068242
AA Change: S347N
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000064467 Gene: ENSMUSG00000040649 AA Change: S347N
Domain | Start | End | E-Value | Type |
low complexity region
|
71 |
83 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
111 |
283 |
7.4e-13 |
PFAM |
Pfam:ATP-grasp_3
|
112 |
283 |
2.6e-9 |
PFAM |
Pfam:RimK
|
112 |
303 |
6.9e-45 |
PFAM |
Pfam:GSH-S_ATP
|
131 |
269 |
5e-14 |
PFAM |
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119780
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135320
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146274
|
SMART Domains |
Protein: ENSMUSP00000138104 Gene: ENSMUSG00000040649
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
54 |
225 |
6.7e-13 |
PFAM |
Pfam:ATP-grasp_3
|
55 |
226 |
1.1e-9 |
PFAM |
Pfam:RimK
|
55 |
242 |
6.7e-43 |
PFAM |
Pfam:GSH-S_ATP
|
72 |
212 |
1.3e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204731
AA Change: S290N
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144770 Gene: ENSMUSG00000040649 AA Change: S290N
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
26 |
N/A |
INTRINSIC |
Pfam:ATP-grasp_4
|
54 |
226 |
5e-13 |
PFAM |
Pfam:ATP-grasp_3
|
55 |
226 |
1.7e-9 |
PFAM |
Pfam:RimK
|
55 |
246 |
4.5e-45 |
PFAM |
Pfam:GSH-S_ATP
|
74 |
212 |
3.6e-14 |
PFAM |
low complexity region
|
280 |
297 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
A |
G |
8: 125,566,564 (GRCm39) |
|
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,359,997 (GRCm39) |
Y1127C |
probably damaging |
Het |
Cdnf |
T |
A |
2: 3,524,863 (GRCm39) |
L134* |
probably null |
Het |
Col11a1 |
A |
G |
3: 113,883,902 (GRCm39) |
D257G |
unknown |
Het |
Cthrc1 |
T |
A |
15: 38,940,529 (GRCm39) |
I44N |
probably benign |
Het |
Dlec1 |
T |
C |
9: 118,952,288 (GRCm39) |
Y545H |
probably benign |
Het |
Drosha |
T |
G |
15: 12,885,069 (GRCm39) |
|
probably null |
Het |
Ebf2 |
A |
G |
14: 67,661,558 (GRCm39) |
N562S |
probably benign |
Het |
Fem1b |
G |
A |
9: 62,704,246 (GRCm39) |
A338V |
probably benign |
Het |
Gga3 |
A |
T |
11: 115,477,820 (GRCm39) |
|
probably null |
Het |
Gm7247 |
A |
T |
14: 51,760,914 (GRCm39) |
H161L |
probably benign |
Het |
Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
Inpp5a |
T |
G |
7: 139,105,664 (GRCm39) |
V213G |
probably benign |
Het |
Kcns3 |
T |
C |
12: 11,141,233 (GRCm39) |
T489A |
probably benign |
Het |
Kifc3 |
G |
A |
8: 95,835,241 (GRCm39) |
A211V |
probably damaging |
Het |
Krt71 |
T |
C |
15: 101,642,987 (GRCm39) |
D507G |
possibly damaging |
Het |
Lama5 |
T |
C |
2: 179,849,011 (GRCm39) |
Y224C |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,386,857 (GRCm39) |
L2421P |
unknown |
Het |
Mtch2 |
C |
T |
2: 90,689,894 (GRCm39) |
T205I |
probably benign |
Het |
Or1o11 |
T |
C |
17: 37,757,255 (GRCm39) |
V281A |
probably benign |
Het |
Prkdc |
T |
A |
16: 15,488,490 (GRCm39) |
C537* |
probably null |
Het |
Prl2a1 |
T |
C |
13: 27,985,699 (GRCm39) |
V5A |
probably benign |
Het |
Prob1 |
T |
C |
18: 35,787,192 (GRCm39) |
Y354C |
probably benign |
Het |
Rnase2a |
T |
C |
14: 51,492,945 (GRCm39) |
D140G |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,787,302 (GRCm39) |
P1017S |
probably benign |
Het |
Slc3a1 |
A |
G |
17: 85,340,205 (GRCm39) |
D209G |
probably damaging |
Het |
Sntn |
T |
A |
14: 13,682,205 (GRCm38) |
|
probably benign |
Het |
Tal2 |
G |
T |
4: 53,785,994 (GRCm39) |
L58F |
probably damaging |
Het |
Trim39 |
T |
C |
17: 36,571,463 (GRCm39) |
K432E |
probably damaging |
Het |
Trmt5 |
A |
T |
12: 73,329,501 (GRCm39) |
M219K |
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,182,767 (GRCm39) |
I311L |
possibly damaging |
Het |
Wfdc17 |
A |
T |
11: 83,595,611 (GRCm39) |
|
probably benign |
Het |
Zbtb6 |
T |
G |
2: 37,319,584 (GRCm39) |
I115L |
probably damaging |
Het |
Zfp750 |
A |
T |
11: 121,402,770 (GRCm39) |
C659* |
probably null |
Het |
|
Other mutations in Rimklb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00898:Rimklb
|
APN |
6 |
122,433,590 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL01674:Rimklb
|
APN |
6 |
122,436,129 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03401:Rimklb
|
APN |
6 |
122,441,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R0234:Rimklb
|
UTSW |
6 |
122,433,292 (GRCm39) |
missense |
probably benign |
0.00 |
R0234:Rimklb
|
UTSW |
6 |
122,433,292 (GRCm39) |
missense |
probably benign |
0.00 |
R0479:Rimklb
|
UTSW |
6 |
122,441,175 (GRCm39) |
splice site |
probably benign |
|
R0488:Rimklb
|
UTSW |
6 |
122,437,934 (GRCm39) |
missense |
probably benign |
0.13 |
R1843:Rimklb
|
UTSW |
6 |
122,440,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R2887:Rimklb
|
UTSW |
6 |
122,449,657 (GRCm39) |
missense |
probably benign |
|
R4674:Rimklb
|
UTSW |
6 |
122,433,242 (GRCm39) |
nonsense |
probably null |
|
R4746:Rimklb
|
UTSW |
6 |
122,449,591 (GRCm39) |
nonsense |
probably null |
|
R4755:Rimklb
|
UTSW |
6 |
122,433,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R4888:Rimklb
|
UTSW |
6 |
122,441,051 (GRCm39) |
splice site |
probably null |
|
R6174:Rimklb
|
UTSW |
6 |
122,433,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R7041:Rimklb
|
UTSW |
6 |
122,436,176 (GRCm39) |
nonsense |
probably null |
|
R7170:Rimklb
|
UTSW |
6 |
122,429,697 (GRCm39) |
missense |
probably benign |
|
R9638:Rimklb
|
UTSW |
6 |
122,433,558 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2016-08-02 |