Incidental Mutation 'R2943:Rbm25'
| ID |
255833 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2943 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
83678990-83729901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83707415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 276
(I276T)
|
| 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: I276T
|
| SMART Domains |
Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: I276T
| 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: I276T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: I276T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anln |
A |
G |
9: 22,267,342 (GRCm39) |
|
probably null |
Het |
| Aqp12 |
A |
T |
1: 92,934,387 (GRCm39) |
D88V |
probably damaging |
Het |
| Armc5 |
A |
C |
7: 127,839,752 (GRCm39) |
N357H |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,992,067 (GRCm39) |
T222K |
probably damaging |
Het |
| Carmil2 |
C |
T |
8: 106,419,564 (GRCm39) |
H815Y |
probably benign |
Het |
| Chrna9 |
T |
C |
5: 66,134,438 (GRCm39) |
Y430H |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,288,004 (GRCm39) |
D83G |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,499,870 (GRCm39) |
D203G |
probably damaging |
Het |
| Galnt6 |
G |
T |
15: 100,612,160 (GRCm39) |
|
probably null |
Het |
| Gsdmc |
C |
T |
15: 63,675,501 (GRCm39) |
V105I |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,935,847 (GRCm39) |
D1509G |
possibly damaging |
Het |
| Lrp10 |
C |
T |
14: 54,707,302 (GRCm39) |
|
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,325,697 (GRCm39) |
L97H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,842,382 (GRCm39) |
L495P |
possibly damaging |
Het |
| Or52s19 |
A |
G |
7: 103,007,658 (GRCm39) |
C248R |
probably damaging |
Het |
| Pank4 |
G |
A |
4: 155,055,931 (GRCm39) |
V319I |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,284,489 (GRCm39) |
N365D |
probably damaging |
Het |
| Pot1b |
A |
T |
17: 55,981,058 (GRCm39) |
S319T |
probably benign |
Het |
| Reg1 |
T |
A |
6: 78,405,128 (GRCm39) |
L117Q |
possibly damaging |
Het |
| Ripor3 |
T |
C |
2: 167,825,681 (GRCm39) |
H759R |
possibly damaging |
Het |
| Rph3al |
A |
T |
11: 75,725,714 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
A |
C |
10: 81,334,706 (GRCm39) |
L256R |
probably damaging |
Het |
| Sstr4 |
T |
C |
2: 148,238,085 (GRCm39) |
V232A |
probably damaging |
Het |
| Tor3a |
G |
A |
1: 156,501,665 (GRCm39) |
P71S |
probably benign |
Het |
| Zfp804a |
C |
A |
2: 82,066,223 (GRCm39) |
Q65K |
probably damaging |
Het |
|
| Other mutations in Rbm25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Rbm25
|
APN |
12 |
83,706,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCACTAACTGCCAGATATGTG -3'
(R):5'- GAGAACAATTAGCAATGGCCAC -3'
Sequencing Primer
(F):5'- ACTTCCAAGTTGGTGGGT -3'
(R):5'- AGCAATGGCCACTATTAAATATGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation