Incidental Mutation 'R0380:Rbm25'
| ID |
30945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm25
|
| Ensembl Gene |
ENSMUSG00000010608 |
| Gene Name |
RNA binding motif protein 25 |
| Synonyms |
2610015J01Rik, A130095G20Rik, 2600011C06Rik |
| MMRRC Submission |
038586-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0380 (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 83707130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
| 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: T259A
|
| SMART Domains |
Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: T259A
| 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
AA Change: T259A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: T259A
| 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
|
| Meta Mutation Damage Score |
0.0701 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,538,500 (GRCm39) |
|
probably null |
Het |
| Abca14 |
A |
T |
7: 119,877,703 (GRCm39) |
I1073L |
probably benign |
Het |
| Adamts17 |
C |
T |
7: 66,799,792 (GRCm39) |
P1116L |
probably benign |
Het |
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Ano4 |
A |
G |
10: 88,814,675 (GRCm39) |
I671T |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,773 (GRCm39) |
I233V |
probably benign |
Het |
| Ap1g1 |
A |
G |
8: 110,529,796 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,761,576 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
C |
T |
9: 32,157,773 (GRCm39) |
R129W |
probably damaging |
Het |
| Atp10b |
G |
T |
11: 43,116,424 (GRCm39) |
A924S |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,930,197 (GRCm39) |
|
probably null |
Het |
| Cckbr |
A |
G |
7: 105,084,198 (GRCm39) |
T311A |
probably benign |
Het |
| Cr2 |
C |
T |
1: 194,839,715 (GRCm39) |
G947R |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,720 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,857,810 (GRCm39) |
Y67H |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,715,996 (GRCm39) |
Y282* |
probably null |
Het |
| Epg5 |
T |
C |
18: 78,004,056 (GRCm39) |
L688P |
probably damaging |
Het |
| Esr2 |
T |
G |
12: 76,170,065 (GRCm39) |
E458A |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,463,160 (GRCm39) |
S1326P |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,525,382 (GRCm39) |
S919P |
probably damaging |
Het |
| Gpr12 |
T |
A |
5: 146,520,146 (GRCm39) |
T259S |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,584 (GRCm39) |
C625S |
possibly damaging |
Het |
| H2-Q1 |
C |
T |
17: 35,542,054 (GRCm39) |
H209Y |
probably damaging |
Het |
| Hcfc2 |
C |
A |
10: 82,564,272 (GRCm39) |
|
probably benign |
Het |
| Itgal |
C |
A |
7: 126,909,923 (GRCm39) |
Y495* |
probably null |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,545 (GRCm39) |
Y306* |
probably null |
Het |
| Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
| Kif1a |
T |
A |
1: 92,983,753 (GRCm39) |
|
probably null |
Het |
| Maml2 |
C |
T |
9: 13,532,396 (GRCm39) |
R537* |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,574,333 (GRCm39) |
A928T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,594,740 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,122,214 (GRCm39) |
M605K |
probably damaging |
Het |
| Or2c1 |
A |
T |
16: 3,656,849 (GRCm39) |
D4V |
probably benign |
Het |
| Pcdhb3 |
T |
G |
18: 37,435,210 (GRCm39) |
I392S |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,101,371 (GRCm39) |
T2292A |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,923,512 (GRCm39) |
M108K |
probably damaging |
Het |
| Recql |
C |
A |
6: 142,315,156 (GRCm39) |
R243L |
probably damaging |
Het |
| Rsf1 |
TGGCG |
TGGCGACGGCGGCG |
7: 97,229,112 (GRCm39) |
|
probably benign |
Het |
| Serpinb12 |
T |
C |
1: 106,878,551 (GRCm39) |
|
probably null |
Het |
| Slc16a14 |
T |
A |
1: 84,907,251 (GRCm39) |
I8F |
possibly damaging |
Het |
| Spef1 |
G |
T |
2: 131,014,332 (GRCm39) |
|
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,166 (GRCm39) |
L300P |
probably damaging |
Het |
| Tas2r117 |
A |
T |
6: 132,780,551 (GRCm39) |
R230* |
probably null |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Thnsl2 |
A |
T |
6: 71,118,314 (GRCm39) |
L38Q |
probably damaging |
Het |
| Tmem171 |
G |
T |
13: 98,828,535 (GRCm39) |
T205K |
possibly damaging |
Het |
| Tmem232 |
A |
T |
17: 65,563,443 (GRCm39) |
L650Q |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,288,698 (GRCm39) |
D518E |
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,713,423 (GRCm39) |
V442A |
probably damaging |
Het |
| Tshz3 |
A |
T |
7: 36,470,725 (GRCm39) |
I905F |
probably damaging |
Het |
| Vmn1r66 |
C |
T |
7: 10,008,670 (GRCm39) |
C121Y |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,096,832 (GRCm39) |
Q322R |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,597,208 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATGTGATGGGTGATAGAGGGATT -3'
(R):5'- TCAGTGACTGAGAACAATTAGCAATGGC -3'
Sequencing Primer
(F):5'- TGATGGGTGATAGAGGGATTTAAAG -3'
(R):5'- AGAATACTACCTTGTGTGTATCTCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation