Incidental Mutation 'IGL01647:Rbm6'
| ID |
102710 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm6
|
| Ensembl Gene |
ENSMUSG00000032582 |
| Gene Name |
RNA binding motif protein 6 |
| Synonyms |
NY-LU-12, g16, Def-3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
IGL01647
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
107650758-107750436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107730081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 189
(E189G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035201]
[ENSMUST00000181986]
[ENSMUST00000183032]
[ENSMUST00000183035]
[ENSMUST00000195883]
[ENSMUST00000195866]
|
| AlphaFold |
S4R1W5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035201
AA Change: E57G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: E57G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
4 |
42 |
2.66e-5 |
PROSPERO |
|
low complexity region
|
61 |
87 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
106 |
157 |
2.66e-5 |
PROSPERO |
|
RRM
|
325 |
400 |
2.67e-2 |
SMART |
|
Blast:ZnF_RBZ
|
406 |
430 |
2e-11 |
BLAST |
|
RRM
|
522 |
601 |
1.32e-1 |
SMART |
|
low complexity region
|
748 |
765 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
818 |
843 |
4.34e0 |
SMART |
|
low complexity region
|
864 |
876 |
N/A |
INTRINSIC |
|
G_patch
|
912 |
958 |
7.87e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182301
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183032
AA Change: E189G
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: E189G
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
43 |
119 |
2.42e-5 |
PROSPERO |
|
internal_repeat_2
|
46 |
164 |
3.18e-5 |
PROSPERO |
|
internal_repeat_1
|
121 |
189 |
2.42e-5 |
PROSPERO |
|
low complexity region
|
193 |
219 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
224 |
319 |
3.18e-5 |
PROSPERO |
|
RRM
|
457 |
532 |
2.67e-2 |
SMART |
|
Blast:ZnF_RBZ
|
538 |
562 |
2e-9 |
BLAST |
|
RRM
|
654 |
733 |
1.32e-1 |
SMART |
|
low complexity region
|
880 |
897 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
950 |
975 |
4.34e0 |
SMART |
|
low complexity region
|
996 |
1008 |
N/A |
INTRINSIC |
|
G_patch
|
1044 |
1090 |
7.87e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183035
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192474
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195883
|
| SMART Domains |
Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_RBZ
|
24 |
48 |
9e-12 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195866
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
A |
2: 35,266,097 (GRCm39) |
D191V |
probably damaging |
Het |
| Adcy6 |
T |
C |
15: 98,498,156 (GRCm39) |
D382G |
probably damaging |
Het |
| Arhgef33 |
A |
T |
17: 80,672,695 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
A |
G |
5: 21,851,091 (GRCm39) |
|
probably benign |
Het |
| Bcas1 |
T |
A |
2: 170,191,172 (GRCm39) |
Q586L |
probably damaging |
Het |
| Bltp3b |
T |
C |
10: 89,609,982 (GRCm39) |
|
probably null |
Het |
| Ccdc88a |
A |
C |
11: 29,454,321 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
A |
2: 155,825,296 (GRCm39) |
C1057S |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,688,087 (GRCm39) |
M14K |
probably benign |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,868,593 (GRCm39) |
Y1463H |
possibly damaging |
Het |
| Garin3 |
G |
T |
11: 46,296,224 (GRCm39) |
E199* |
probably null |
Het |
| Gck |
A |
T |
11: 5,854,472 (GRCm39) |
M251K |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,525,570 (GRCm39) |
P14S |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,230,275 (GRCm39) |
K748* |
probably null |
Het |
| Kif15 |
T |
A |
9: 122,792,536 (GRCm39) |
|
probably benign |
Het |
| Ly6g6f |
A |
G |
17: 35,299,817 (GRCm39) |
|
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,517,146 (GRCm39) |
G358R |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,307,801 (GRCm39) |
|
probably benign |
Het |
| Or5m3b |
C |
T |
2: 85,872,441 (GRCm39) |
P261S |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,688,477 (GRCm39) |
I107F |
possibly damaging |
Het |
| Pcnt |
T |
A |
10: 76,205,835 (GRCm39) |
K2506* |
probably null |
Het |
| Pgc |
G |
T |
17: 48,043,329 (GRCm39) |
G226W |
probably damaging |
Het |
| Pip5k1a |
C |
T |
3: 94,981,383 (GRCm39) |
V82M |
probably damaging |
Het |
| Plk3 |
A |
G |
4: 116,987,554 (GRCm39) |
V466A |
probably damaging |
Het |
| Prss44 |
C |
A |
9: 110,643,745 (GRCm39) |
Q130K |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,152 (GRCm39) |
Y66C |
probably damaging |
Het |
| Rtn4r |
G |
T |
16: 17,969,190 (GRCm39) |
R206L |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,600,366 (GRCm39) |
G4613E |
probably damaging |
Het |
| Sema5a |
T |
G |
15: 32,417,587 (GRCm39) |
L19R |
possibly damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,957,653 (GRCm39) |
T139A |
possibly damaging |
Het |
| Slco2a1 |
T |
G |
9: 102,947,495 (GRCm39) |
S265A |
possibly damaging |
Het |
| Smad4 |
A |
G |
18: 73,773,544 (GRCm39) |
|
probably benign |
Het |
| St13 |
C |
T |
15: 81,255,708 (GRCm39) |
R240Q |
probably damaging |
Het |
| Tcea3 |
A |
C |
4: 136,002,087 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,600 (GRCm39) |
Y92C |
probably damaging |
Het |
| Wnt8b |
A |
T |
19: 44,499,704 (GRCm39) |
D151V |
probably damaging |
Het |
| Zfp426 |
T |
A |
9: 20,389,453 (GRCm39) |
M1L |
possibly damaging |
Het |
|
| Other mutations in Rbm6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Rbm6
|
APN |
9 |
107,665,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01872:Rbm6
|
APN |
9 |
107,660,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02402:Rbm6
|
APN |
9 |
107,730,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03024:Rbm6
|
APN |
9 |
107,664,567 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03025:Rbm6
|
APN |
9 |
107,651,918 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
FR4737:Rbm6
|
UTSW |
9 |
107,659,954 (GRCm39) |
frame shift |
probably null |
|
|
G1Funyon:Rbm6
|
UTSW |
9 |
107,729,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Rbm6
|
UTSW |
9 |
107,665,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Rbm6
|
UTSW |
9 |
107,724,488 (GRCm39) |
nonsense |
probably null |
|
|
R1666:Rbm6
|
UTSW |
9 |
107,669,055 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1927:Rbm6
|
UTSW |
9 |
107,730,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Rbm6
|
UTSW |
9 |
107,729,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2262:Rbm6
|
UTSW |
9 |
107,668,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2439:Rbm6
|
UTSW |
9 |
107,656,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Rbm6
|
UTSW |
9 |
107,669,197 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2878:Rbm6
|
UTSW |
9 |
107,729,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Rbm6
|
UTSW |
9 |
107,724,446 (GRCm39) |
intron |
probably benign |
|
|
R4783:Rbm6
|
UTSW |
9 |
107,730,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Rbm6
|
UTSW |
9 |
107,664,551 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5205:Rbm6
|
UTSW |
9 |
107,665,542 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5253:Rbm6
|
UTSW |
9 |
107,729,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Rbm6
|
UTSW |
9 |
107,655,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5356:Rbm6
|
UTSW |
9 |
107,729,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Rbm6
|
UTSW |
9 |
107,655,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Rbm6
|
UTSW |
9 |
107,664,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6564:Rbm6
|
UTSW |
9 |
107,710,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6887:Rbm6
|
UTSW |
9 |
107,729,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6978:Rbm6
|
UTSW |
9 |
107,729,774 (GRCm39) |
splice site |
probably null |
|
|
R7139:Rbm6
|
UTSW |
9 |
107,730,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Rbm6
|
UTSW |
9 |
107,730,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Rbm6
|
UTSW |
9 |
107,668,244 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7397:Rbm6
|
UTSW |
9 |
107,729,718 (GRCm39) |
missense |
probably benign |
|
|
R7590:Rbm6
|
UTSW |
9 |
107,668,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7829:Rbm6
|
UTSW |
9 |
107,729,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Rbm6
|
UTSW |
9 |
107,729,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8405:Rbm6
|
UTSW |
9 |
107,730,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8784:Rbm6
|
UTSW |
9 |
107,665,337 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8935:Rbm6
|
UTSW |
9 |
107,677,945 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9036:Rbm6
|
UTSW |
9 |
107,660,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Rbm6
|
UTSW |
9 |
107,669,089 (GRCm39) |
nonsense |
probably null |
|
|
R9227:Rbm6
|
UTSW |
9 |
107,664,498 (GRCm39) |
missense |
probably benign |
|
|
R9276:Rbm6
|
UTSW |
9 |
107,660,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9482:Rbm6
|
UTSW |
9 |
107,669,208 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9656:Rbm6
|
UTSW |
9 |
107,656,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1191:Rbm6
|
UTSW |
9 |
107,655,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-01-21 |
Incidental Mutation