Incidental Mutation 'R4349:Rbm25'
| ID |
328447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm25
|
| Ensembl Gene |
ENSMUSG00000010608 |
| Gene Name |
RNA binding motif protein 25 |
| Synonyms |
2610015J01Rik, A130095G20Rik, 2600011C06Rik |
| MMRRC Submission |
041104-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83678990-83729901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83721947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 711
(D711G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048155]
[ENSMUST00000181983]
[ENSMUST00000182450]
|
| AlphaFold |
B2RY56 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048155
AA Change: D711G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: D711G
| 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 benign
Transcript: ENSMUST00000181983
|
| SMART Domains |
Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
| 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: ENSMUST00000182450
|
| SMART Domains |
Protein: ENSMUSP00000138416
Gene: ENSMUSG00000010608
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183181
|
| Meta Mutation Damage Score |
0.5693 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,562,827 (GRCm39) |
R276L |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,053 (GRCm39) |
S248P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
| Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,122,926 (GRCm39) |
V517M |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
| Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
| Pacsin1 |
G |
A |
17: 27,925,978 (GRCm39) |
V107I |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
| Skint10 |
T |
C |
4: 112,626,968 (GRCm39) |
*113W |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,552 (GRCm39) |
C557S |
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 |
|
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 |
|
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'- GGAAATATGTTTGCACCTTTTGAGG -3'
(R):5'- CCCAGACATTTGACAGGCAG -3'
Sequencing Primer
(F):5'- TGCACCTTTTGAGGGATGG -3'
(R):5'- TTGACAGGCAGTATGCTACTCACAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation