Incidental Mutation 'R8154:Rbm25'
| ID |
633216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm25
|
| Ensembl Gene |
ENSMUSG00000010608 |
| Gene Name |
RNA binding motif protein 25 |
| Synonyms |
2610015J01Rik, A130095G20Rik, 2600011C06Rik |
| MMRRC Submission |
067580-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8154 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83678990-83729901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83691205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 47
(M47V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138572
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048155]
[ENSMUST00000181983]
[ENSMUST00000182004]
[ENSMUST00000182036]
[ENSMUST00000182347]
[ENSMUST00000182450]
[ENSMUST00000182618]
[ENSMUST00000182633]
[ENSMUST00000183154]
|
| AlphaFold |
B2RY56 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000048155
AA Change: M47V
|
| SMART Domains |
Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: M47V
| 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 |
unknown
Transcript: ENSMUST00000181983
AA Change: M47V
|
| SMART Domains |
Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: M47V
| 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 |
unknown
Transcript: ENSMUST00000182004
AA Change: M47V
|
| SMART Domains |
Protein: ENSMUSP00000138573
Gene: ENSMUSG00000010608
AA Change: M47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182036
AA Change: M47V
|
| SMART Domains |
Protein: ENSMUSP00000138565
Gene: ENSMUSG00000010608
AA Change: M47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
|
RRM
|
88 |
160 |
2.52e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182347
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182450
AA Change: M47V
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138416
Gene: ENSMUSG00000010608
AA Change: M47V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182618
AA Change: M66V
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138665
Gene: ENSMUSG00000010608
AA Change: M66V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
63 |
N/A |
INTRINSIC |
|
RRM
|
107 |
172 |
3.44e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182633
AA Change: M66V
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138625
Gene: ENSMUSG00000010608
AA Change: M66V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183154
AA Change: M66V
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138669
Gene: ENSMUSG00000010608
AA Change: M66V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
63 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0775 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810037I17Rik |
G |
T |
3: 122,718,142 (GRCm39) |
G12C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,424 (GRCm39) |
I600N |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,756,902 (GRCm39) |
P357T |
probably damaging |
Het |
| Bmyc |
T |
A |
2: 25,597,346 (GRCm39) |
S137T |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,987,654 (GRCm39) |
M168K |
possibly damaging |
Het |
| Card11 |
T |
G |
5: 140,886,732 (GRCm39) |
K339T |
probably damaging |
Het |
| Ccdc149 |
C |
T |
5: 52,542,446 (GRCm39) |
|
probably null |
Het |
| Ccr9 |
T |
C |
9: 123,608,896 (GRCm39) |
S193P |
probably benign |
Het |
| Cracd |
A |
T |
5: 76,989,644 (GRCm39) |
E62D |
unknown |
Het |
| Csf2rb |
A |
G |
15: 78,224,642 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,281,434 (GRCm39) |
E576G |
probably damaging |
Het |
| Cyp4a30b |
A |
G |
4: 115,315,493 (GRCm39) |
N238S |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,517,740 (GRCm39) |
T375K |
possibly damaging |
Het |
| Espnl |
C |
T |
1: 91,252,921 (GRCm39) |
H217Y |
possibly damaging |
Het |
| Exoc4 |
T |
C |
6: 33,887,473 (GRCm39) |
S754P |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,507 (GRCm39) |
D189G |
probably benign |
Het |
| Gle1 |
T |
A |
2: 29,828,619 (GRCm39) |
|
probably null |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gtf2i |
A |
T |
5: 134,280,721 (GRCm39) |
F583L |
probably benign |
Het |
| Heatr9 |
T |
A |
11: 83,402,703 (GRCm39) |
Y532F |
possibly damaging |
Het |
| Hic2 |
C |
T |
16: 17,076,344 (GRCm39) |
S391L |
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,656,652 (GRCm39) |
V905A |
probably damaging |
Het |
| Inpp5f |
T |
G |
7: 128,265,991 (GRCm39) |
W211G |
possibly damaging |
Het |
| Katnip |
T |
C |
7: 125,412,802 (GRCm39) |
L382P |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,361,822 (GRCm39) |
Y1123F |
possibly damaging |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
| Lmod3 |
T |
A |
6: 97,224,941 (GRCm39) |
K293N |
probably damaging |
Het |
| Luzp1 |
T |
C |
4: 136,269,195 (GRCm39) |
S473P |
possibly damaging |
Het |
| Lzic |
T |
A |
4: 149,573,141 (GRCm39) |
F98I |
probably damaging |
Het |
| Map4k4 |
T |
G |
1: 40,060,302 (GRCm39) |
Y1030* |
probably null |
Het |
| Miga1 |
A |
G |
3: 152,026,337 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
T |
C |
17: 13,130,608 (GRCm39) |
E167G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,144,200 (GRCm39) |
E1190G |
probably damaging |
Het |
| Ngef |
C |
T |
1: 87,468,482 (GRCm39) |
M92I |
probably benign |
Het |
| Nlrc4 |
T |
A |
17: 74,752,904 (GRCm39) |
Y493F |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,763 (GRCm39) |
C213G |
probably benign |
Het |
| Otud7a |
C |
A |
7: 63,407,612 (GRCm39) |
F638L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,651,620 (GRCm39) |
|
probably null |
Het |
| Pcdhgb1 |
A |
G |
18: 37,815,596 (GRCm39) |
I696V |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,304,948 (GRCm39) |
F1745S |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,813,600 (GRCm39) |
V199M |
probably damaging |
Het |
| Prrc2b |
C |
T |
2: 32,108,689 (GRCm39) |
A1637V |
probably benign |
Het |
| Rab3il1 |
A |
T |
19: 10,004,936 (GRCm39) |
M57L |
possibly damaging |
Het |
| Rbl2 |
A |
G |
8: 91,833,825 (GRCm39) |
D885G |
probably damaging |
Het |
| Rd3l |
T |
A |
12: 111,946,638 (GRCm39) |
H46L |
probably benign |
Het |
| Scn5a |
C |
G |
9: 119,391,611 (GRCm39) |
R27P |
possibly damaging |
Het |
| Set |
T |
A |
2: 29,959,100 (GRCm39) |
V99D |
probably benign |
Het |
| Sh3tc1 |
T |
A |
5: 35,875,696 (GRCm39) |
I138F |
probably damaging |
Het |
| Slf2 |
T |
A |
19: 44,923,596 (GRCm39) |
S137T |
possibly damaging |
Het |
| Smg8 |
A |
T |
11: 86,976,063 (GRCm39) |
M506K |
possibly damaging |
Het |
| Stpg2 |
G |
A |
3: 139,014,938 (GRCm39) |
V368M |
probably damaging |
Het |
| Trav16d-dv11 |
T |
C |
14: 53,284,999 (GRCm39) |
V25A |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,776,210 (GRCm39) |
Y1718C |
probably damaging |
Het |
| Vrk1 |
A |
G |
12: 106,036,793 (GRCm39) |
K360E |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,017 (GRCm39) |
H1419Q |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,802,366 (GRCm39) |
F94L |
probably damaging |
Het |
| Zc2hc1c |
T |
C |
12: 85,336,946 (GRCm39) |
L201P |
probably benign |
Het |
| Zfp638 |
C |
T |
6: 83,954,391 (GRCm39) |
R1499W |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,897,157 (GRCm39) |
L589Q |
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 |
|
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 |
|
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'- ATACGCCCCGTCCTATGCC -3'
(R):5'- AGGCATTTCCTAAATCTTAATCTTCCC -3'
Sequencing Primer
(F):5'- ATGCCTTACTTTCATGTGGATGC -3'
(R):5'- AGCTAGCTAAGGAGACTCTTGTCC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation