Incidental Mutation 'IGL01614:Rbm25'
ID |
92323 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbm25
|
Ensembl Gene |
ENSMUSG00000010608 |
Gene Name |
RNA binding motif protein 25 |
Synonyms |
2610015J01Rik, A130095G20Rik, 2600011C06Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01614
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
83678990-83729901 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 83706341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 229
(D229Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048155]
[ENSMUST00000181983]
[ENSMUST00000182036]
[ENSMUST00000182450]
[ENSMUST00000182633]
|
AlphaFold |
B2RY56 |
Predicted Effect |
unknown
Transcript: ENSMUST00000048155
AA Change: D229Y
|
SMART Domains |
Protein: ENSMUSP00000048470 Gene: ENSMUSG00000010608 AA Change: D229Y
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
RRM
|
88 |
160 |
2.52e-11 |
SMART |
low complexity region
|
234 |
241 |
N/A |
INTRINSIC |
coiled coil region
|
270 |
351 |
N/A |
INTRINSIC |
coiled coil region
|
382 |
549 |
N/A |
INTRINSIC |
low complexity region
|
556 |
606 |
N/A |
INTRINSIC |
low complexity region
|
616 |
625 |
N/A |
INTRINSIC |
PWI
|
758 |
831 |
2.79e-38 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000181983
AA Change: D229Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138572 Gene: ENSMUSG00000010608 AA Change: D229Y
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
RRM
|
88 |
160 |
2.52e-11 |
SMART |
internal_repeat_1
|
187 |
203 |
3e-5 |
PROSPERO |
low complexity region
|
234 |
241 |
N/A |
INTRINSIC |
internal_repeat_1
|
258 |
274 |
3e-5 |
PROSPERO |
coiled coil region
|
382 |
549 |
N/A |
INTRINSIC |
low complexity region
|
556 |
571 |
N/A |
INTRINSIC |
low complexity region
|
575 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182036
|
SMART Domains |
Protein: ENSMUSP00000138565 Gene: ENSMUSG00000010608
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
RRM
|
88 |
160 |
2.52e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182255
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182450
|
SMART Domains |
Protein: ENSMUSP00000138416 Gene: ENSMUSG00000010608
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000182633
|
SMART Domains |
Protein: ENSMUSP00000138625 Gene: ENSMUSG00000010608
Domain | Start | End | E-Value | Type |
low complexity region
|
29 |
63 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183242
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183282
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
A |
17: 43,735,362 (GRCm39) |
S143T |
possibly damaging |
Het |
Arhgap32 |
G |
T |
9: 32,171,801 (GRCm39) |
S1527I |
probably damaging |
Het |
Atp8a2 |
A |
G |
14: 60,282,437 (GRCm39) |
V128A |
probably damaging |
Het |
Bpi |
T |
C |
2: 158,113,866 (GRCm39) |
F255L |
probably damaging |
Het |
Clptm1 |
A |
T |
7: 19,371,625 (GRCm39) |
D269E |
probably benign |
Het |
Cyria |
T |
C |
12: 12,411,574 (GRCm39) |
|
probably null |
Het |
E2f7 |
T |
C |
10: 110,595,839 (GRCm39) |
V63A |
probably damaging |
Het |
Eif4e1b |
T |
A |
13: 54,934,729 (GRCm39) |
I184N |
probably damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,996 (GRCm39) |
L401Q |
probably damaging |
Het |
Gm7808 |
G |
A |
9: 19,839,442 (GRCm39) |
|
probably benign |
Het |
Hdac5 |
G |
A |
11: 102,090,854 (GRCm39) |
T741I |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,172,507 (GRCm39) |
T522A |
probably benign |
Het |
Lama5 |
A |
C |
2: 179,822,657 (GRCm39) |
F2832V |
probably damaging |
Het |
Ltk |
A |
C |
2: 119,583,968 (GRCm39) |
L230R |
probably damaging |
Het |
Mettl14 |
A |
T |
3: 123,167,609 (GRCm39) |
|
probably benign |
Het |
Myom1 |
T |
C |
17: 71,433,173 (GRCm39) |
F1507L |
possibly damaging |
Het |
Nsd3 |
T |
A |
8: 26,156,095 (GRCm39) |
I554K |
possibly damaging |
Het |
Or1j12 |
T |
G |
2: 36,342,636 (GRCm39) |
I13S |
probably benign |
Het |
Or1o1 |
G |
A |
17: 37,716,529 (GRCm39) |
C30Y |
probably benign |
Het |
Or51a43 |
C |
T |
7: 103,717,576 (GRCm39) |
V221I |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,741 (GRCm39) |
I140N |
possibly damaging |
Het |
Prr14 |
T |
A |
7: 127,074,305 (GRCm39) |
L279H |
probably damaging |
Het |
Sdk2 |
T |
C |
11: 113,684,684 (GRCm39) |
K1926E |
probably damaging |
Het |
Slc25a23 |
C |
T |
17: 57,352,579 (GRCm39) |
R435Q |
probably null |
Het |
Srebf2 |
A |
G |
15: 82,063,054 (GRCm39) |
N457S |
probably benign |
Het |
Stac2 |
T |
C |
11: 97,943,774 (GRCm39) |
D12G |
probably benign |
Het |
Tal1 |
A |
C |
4: 114,920,325 (GRCm39) |
|
probably null |
Het |
Usp25 |
G |
A |
16: 76,874,005 (GRCm39) |
R527Q |
probably damaging |
Het |
|
Other mutations in Rbm25 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02095:Rbm25
|
APN |
12 |
83,718,748 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02227:Rbm25
|
APN |
12 |
83,719,527 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02454:Rbm25
|
APN |
12 |
83,707,096 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02704:Rbm25
|
APN |
12 |
83,689,500 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02726:Rbm25
|
APN |
12 |
83,719,626 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03384:Rbm25
|
APN |
12 |
83,706,297 (GRCm39) |
missense |
probably benign |
0.28 |
Complexities
|
UTSW |
12 |
83,724,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0380:Rbm25
|
UTSW |
12 |
83,707,130 (GRCm39) |
missense |
probably benign |
0.02 |
R0829:Rbm25
|
UTSW |
12 |
83,707,150 (GRCm39) |
splice site |
probably benign |
|
R1330:Rbm25
|
UTSW |
12 |
83,724,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R1346:Rbm25
|
UTSW |
12 |
83,691,167 (GRCm39) |
splice site |
probably benign |
|
R1518:Rbm25
|
UTSW |
12 |
83,715,219 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1566:Rbm25
|
UTSW |
12 |
83,721,828 (GRCm39) |
missense |
probably damaging |
0.98 |
R1660:Rbm25
|
UTSW |
12 |
83,714,924 (GRCm39) |
unclassified |
probably benign |
|
R1809:Rbm25
|
UTSW |
12 |
83,719,501 (GRCm39) |
splice site |
probably benign |
|
R2213:Rbm25
|
UTSW |
12 |
83,722,856 (GRCm39) |
missense |
probably benign |
0.00 |
R2336:Rbm25
|
UTSW |
12 |
83,698,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R2943:Rbm25
|
UTSW |
12 |
83,707,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R3971:Rbm25
|
UTSW |
12 |
83,721,982 (GRCm39) |
missense |
probably benign |
0.03 |
R4349:Rbm25
|
UTSW |
12 |
83,721,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R4740:Rbm25
|
UTSW |
12 |
83,691,181 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4987:Rbm25
|
UTSW |
12 |
83,724,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R5205:Rbm25
|
UTSW |
12 |
83,719,643 (GRCm39) |
missense |
probably benign |
0.03 |
R5579:Rbm25
|
UTSW |
12 |
83,715,281 (GRCm39) |
missense |
probably benign |
0.41 |
R5603:Rbm25
|
UTSW |
12 |
83,710,990 (GRCm39) |
nonsense |
probably null |
|
R5909:Rbm25
|
UTSW |
12 |
83,728,362 (GRCm39) |
missense |
probably damaging |
0.97 |
R5930:Rbm25
|
UTSW |
12 |
83,724,640 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5982:Rbm25
|
UTSW |
12 |
83,718,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R6233:Rbm25
|
UTSW |
12 |
83,706,200 (GRCm39) |
missense |
probably benign |
0.24 |
R6275:Rbm25
|
UTSW |
12 |
83,691,206 (GRCm39) |
missense |
probably damaging |
0.98 |
R6282:Rbm25
|
UTSW |
12 |
83,722,863 (GRCm39) |
missense |
probably damaging |
0.98 |
R7156:Rbm25
|
UTSW |
12 |
83,710,965 (GRCm39) |
missense |
unknown |
|
R7188:Rbm25
|
UTSW |
12 |
83,710,772 (GRCm39) |
missense |
unknown |
|
R7217:Rbm25
|
UTSW |
12 |
83,710,991 (GRCm39) |
missense |
unknown |
|
R7403:Rbm25
|
UTSW |
12 |
83,722,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R7508:Rbm25
|
UTSW |
12 |
83,719,651 (GRCm39) |
missense |
probably damaging |
0.99 |
R7703:Rbm25
|
UTSW |
12 |
83,721,864 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8004:Rbm25
|
UTSW |
12 |
83,721,166 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8154:Rbm25
|
UTSW |
12 |
83,691,205 (GRCm39) |
missense |
unknown |
|
R8444:Rbm25
|
UTSW |
12 |
83,711,025 (GRCm39) |
missense |
unknown |
|
Z1176:Rbm25
|
UTSW |
12 |
83,719,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2013-12-09 |