Incidental Mutation 'R2336:Rbm25'
| ID |
246560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm25
|
| Ensembl Gene |
ENSMUSG00000010608 |
| Gene Name |
RNA binding motif protein 25 |
| Synonyms |
2610015J01Rik, A130095G20Rik, 2600011C06Rik |
| MMRRC Submission |
040323-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2336 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83678990-83729901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83698192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 172
(W172R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138565
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048155]
[ENSMUST00000181983]
[ENSMUST00000182036]
[ENSMUST00000182450]
[ENSMUST00000182618]
[ENSMUST00000182633]
|
| AlphaFold |
B2RY56 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000048155
AA Change: W172R
|
| SMART Domains |
Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: W172R
| 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: W172R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: W172R
| 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 |
noncoding transcript
Transcript: ENSMUST00000182032
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182036
AA Change: W172R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138565
Gene: ENSMUSG00000010608
AA Change: W172R
| 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 |
possibly damaging
Transcript: ENSMUST00000182450
AA Change: N152K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138416
Gene: ENSMUSG00000010608
AA Change: N152K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182618
|
| SMART Domains |
Protein: ENSMUSP00000138665
Gene: ENSMUSG00000010608
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
63 |
N/A |
INTRINSIC |
|
RRM
|
107 |
172 |
3.44e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183039
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182633
AA Change: N171K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138625
Gene: ENSMUSG00000010608
AA Change: N171K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
63 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183128
|
| Meta Mutation Damage Score |
0.8166 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430110L20Rik |
T |
A |
1: 181,055,206 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgap21 |
G |
A |
2: 20,884,862 (GRCm39) |
R772C |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,260,430 (GRCm39) |
E393G |
probably damaging |
Het |
| Atrn |
C |
T |
2: 130,799,874 (GRCm39) |
T417I |
probably damaging |
Het |
| Baiap3 |
T |
C |
17: 25,469,378 (GRCm39) |
K173R |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,189,510 (GRCm39) |
N1497K |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,481,300 (GRCm39) |
V349A |
probably benign |
Het |
| Chrnd |
T |
C |
1: 87,122,615 (GRCm39) |
F132S |
probably damaging |
Het |
| Ddx42 |
A |
G |
11: 106,121,976 (GRCm39) |
M164V |
possibly damaging |
Het |
| Dtwd2 |
A |
G |
18: 49,833,320 (GRCm39) |
|
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,143,571 (GRCm39) |
|
probably benign |
Het |
| Fut8 |
A |
G |
12: 77,459,730 (GRCm39) |
|
probably benign |
Het |
| Gabrr3 |
C |
T |
16: 59,250,313 (GRCm39) |
T104M |
probably damaging |
Het |
| Gcat |
G |
A |
15: 78,915,180 (GRCm39) |
R16H |
probably benign |
Het |
| Gnb2 |
A |
T |
5: 137,527,460 (GRCm39) |
W125R |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,477,651 (GRCm39) |
D512N |
probably damaging |
Het |
| Hnf4g |
T |
C |
3: 3,706,284 (GRCm39) |
F60L |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,484,546 (GRCm39) |
I359T |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 111,051,283 (GRCm39) |
D325G |
probably damaging |
Het |
| Mttp |
A |
T |
3: 137,821,856 (GRCm39) |
I222K |
possibly damaging |
Het |
| Myom1 |
A |
T |
17: 71,330,189 (GRCm39) |
H107L |
possibly damaging |
Het |
| Obi1 |
G |
A |
14: 104,716,318 (GRCm39) |
P685L |
probably damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,689 (GRCm39) |
Y258F |
probably benign |
Het |
| Or2r11 |
A |
G |
6: 42,437,663 (GRCm39) |
C97R |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,006,121 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
A |
T |
2: 132,223,359 (GRCm39) |
M61K |
probably damaging |
Het |
| Ptk2 |
A |
G |
15: 73,137,965 (GRCm39) |
C502R |
probably damaging |
Het |
| Rdh16f1 |
A |
G |
10: 127,624,624 (GRCm39) |
K154R |
probably benign |
Het |
| Rnf213 |
G |
A |
11: 119,305,430 (GRCm39) |
E554K |
probably benign |
Het |
| St3gal6 |
A |
T |
16: 58,314,067 (GRCm39) |
I22K |
probably damaging |
Het |
| Tut7 |
G |
T |
13: 59,946,868 (GRCm39) |
P585Q |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,782,258 (GRCm39) |
R387* |
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,470 (GRCm39) |
N643S |
probably benign |
Het |
| Zdbf2 |
G |
T |
1: 63,342,623 (GRCm39) |
R334L |
probably benign |
Het |
| Zfp868 |
G |
T |
8: 70,066,558 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGTGATGACTTCAGTGACC -3'
(R):5'- TTTCATCCCAACCTGGAACAAG -3'
Sequencing Primer
(F):5'- GGTGATGACTTCAGTGACCTCATAAG -3'
(R):5'- CACTGTGGGTAGATAAAACACTTATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation