Incidental Mutation 'IGL03025:Rbm6'
ID |
408127 |
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: 0.615)
|
Stock # |
IGL03025
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107650758-107750436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107651918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 903
(D903V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035199]
[ENSMUST00000035201]
[ENSMUST00000181986]
[ENSMUST00000182022]
[ENSMUST00000183032]
[ENSMUST00000182421]
[ENSMUST00000182659]
[ENSMUST00000183248]
[ENSMUST00000182371]
[ENSMUST00000192130]
[ENSMUST00000182304]
|
AlphaFold |
S4R1W5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035199
|
SMART Domains |
Protein: ENSMUSP00000035199 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
RRM
|
99 |
174 |
5.98e-13 |
SMART |
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
RRM
|
232 |
311 |
9.5e-7 |
SMART |
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
low complexity region
|
425 |
446 |
N/A |
INTRINSIC |
Blast:RRM_2
|
483 |
506 |
1e-5 |
BLAST |
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
low complexity region
|
569 |
581 |
N/A |
INTRINSIC |
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
ZnF_C2H2
|
647 |
672 |
5.2e0 |
SMART |
coiled coil region
|
673 |
707 |
N/A |
INTRINSIC |
G_patch
|
741 |
787 |
1.85e-21 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035201
AA Change: D903V
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000035201 Gene: ENSMUSG00000032582 AA Change: D903V
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: ENSMUST00000181993
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182007
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182022
|
SMART Domains |
Protein: ENSMUSP00000138390 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
SCOP:d1h6kx_
|
96 |
137 |
2e-3 |
SMART |
Blast:RRM
|
99 |
137 |
3e-20 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182073
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183032
AA Change: D1035V
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000138400 Gene: ENSMUSG00000032582 AA Change: D1035V
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 |
noncoding transcript
Transcript: ENSMUST00000182518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182421
|
SMART Domains |
Protein: ENSMUSP00000138778 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
59 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182659
|
SMART Domains |
Protein: ENSMUSP00000138379 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
RRM
|
99 |
174 |
5.98e-13 |
SMART |
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
RRM
|
232 |
311 |
9.5e-7 |
SMART |
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
low complexity region
|
425 |
446 |
N/A |
INTRINSIC |
Blast:RRM_2
|
483 |
506 |
1e-5 |
BLAST |
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
low complexity region
|
569 |
581 |
N/A |
INTRINSIC |
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
ZnF_C2H2
|
647 |
672 |
5.2e0 |
SMART |
coiled coil region
|
673 |
707 |
N/A |
INTRINSIC |
G_patch
|
741 |
787 |
1.85e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183248
|
SMART Domains |
Protein: ENSMUSP00000138294 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182371
|
SMART Domains |
Protein: ENSMUSP00000138119 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
SCOP:d1h6kx_
|
96 |
138 |
6e-3 |
SMART |
Blast:RRM
|
99 |
136 |
3e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192130
|
SMART Domains |
Protein: ENSMUSP00000142194 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
SCOP:d1h6kx_
|
96 |
138 |
6e-3 |
SMART |
Blast:RRM
|
99 |
136 |
3e-19 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182304
|
SMART Domains |
Protein: ENSMUSP00000138380 Gene: ENSMUSG00000032580
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
RRM
|
99 |
174 |
5.98e-13 |
SMART |
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
PDB:2LKZ|A
|
231 |
251 |
5e-6 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
C |
2: 151,315,405 (GRCm39) |
N91S |
possibly damaging |
Het |
Adora1 |
T |
C |
1: 134,130,807 (GRCm39) |
Y288C |
probably damaging |
Het |
Avil |
A |
T |
10: 126,849,446 (GRCm39) |
T581S |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,651,868 (GRCm39) |
W92* |
probably null |
Het |
Calr3 |
A |
C |
8: 73,188,735 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,561,222 (GRCm39) |
E181G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,079 (GRCm39) |
N590S |
probably benign |
Het |
Cnga1 |
T |
A |
5: 72,762,756 (GRCm39) |
I253F |
probably benign |
Het |
Cngb3 |
T |
G |
4: 19,283,498 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
T |
A |
2: 104,439,276 (GRCm39) |
Y30N |
possibly damaging |
Het |
Cyp2a12 |
T |
A |
7: 26,730,631 (GRCm39) |
S199T |
probably benign |
Het |
Dlg1 |
A |
G |
16: 31,624,545 (GRCm39) |
I412V |
probably benign |
Het |
Fasn |
C |
T |
11: 120,708,974 (GRCm39) |
V570M |
probably benign |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Frmd5 |
T |
A |
2: 121,383,825 (GRCm39) |
M369L |
probably benign |
Het |
Ftdc2 |
A |
C |
16: 58,458,076 (GRCm39) |
I75S |
probably damaging |
Het |
Gatb |
T |
C |
3: 85,483,181 (GRCm39) |
W63R |
probably damaging |
Het |
Gga1 |
G |
T |
15: 78,772,382 (GRCm39) |
L227F |
probably damaging |
Het |
Itgb1 |
A |
G |
8: 129,449,065 (GRCm39) |
N557S |
possibly damaging |
Het |
Ltf |
T |
C |
9: 110,854,169 (GRCm39) |
V328A |
possibly damaging |
Het |
Nefh |
T |
C |
11: 4,895,289 (GRCm39) |
E300G |
probably damaging |
Het |
Nrip1 |
A |
G |
16: 76,091,353 (GRCm39) |
V68A |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,665 (GRCm39) |
N89D |
probably benign |
Het |
Pcdhb13 |
T |
G |
18: 37,575,817 (GRCm39) |
V65G |
probably damaging |
Het |
Pcdhb4 |
A |
T |
18: 37,443,030 (GRCm39) |
Y780F |
possibly damaging |
Het |
Plcd3 |
C |
T |
11: 102,965,724 (GRCm39) |
E503K |
probably benign |
Het |
Rnf133 |
A |
G |
6: 23,649,134 (GRCm39) |
M265T |
probably benign |
Het |
Sbf1 |
T |
C |
15: 89,173,848 (GRCm39) |
T1775A |
probably damaging |
Het |
Serpina1f |
T |
A |
12: 103,659,805 (GRCm39) |
D159V |
probably damaging |
Het |
Skap1 |
C |
A |
11: 96,593,508 (GRCm39) |
S118R |
probably damaging |
Het |
Slc17a9 |
C |
A |
2: 180,381,609 (GRCm39) |
|
probably null |
Het |
Slc30a5 |
A |
G |
13: 100,950,395 (GRCm39) |
S231P |
probably damaging |
Het |
Stac2 |
A |
G |
11: 97,934,548 (GRCm39) |
F52S |
probably damaging |
Het |
Them7 |
T |
C |
2: 105,128,150 (GRCm39) |
S44P |
probably benign |
Het |
Tnmd |
A |
G |
X: 132,766,162 (GRCm39) |
|
probably benign |
Het |
Trdmt1 |
A |
T |
2: 13,528,246 (GRCm39) |
I105N |
probably damaging |
Het |
Trpc1 |
C |
T |
9: 95,592,313 (GRCm39) |
G554E |
probably damaging |
Het |
Vmn1r37 |
A |
G |
6: 66,708,740 (GRCm39) |
Y85C |
probably benign |
Het |
Zim1 |
T |
C |
7: 6,685,058 (GRCm39) |
T131A |
probably benign |
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 |
IGL01647:Rbm6
|
APN |
9 |
107,730,081 (GRCm39) |
missense |
probably benign |
0.13 |
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 |
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 |
2016-08-02 |