Incidental Mutation 'R7217:Rbm25'
| ID |
561543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm25
|
| Ensembl Gene |
ENSMUSG00000010608 |
| Gene Name |
RNA binding motif protein 25 |
| Synonyms |
2610015J01Rik, A130095G20Rik, 2600011C06Rik |
| MMRRC Submission |
045289-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7217 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
83678990-83729901 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83710991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 368
(R368Q)
|
| 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: R368Q
|
| SMART Domains |
Protein: ENSMUSP00000048470
Gene: ENSMUSG00000010608
AA Change: R368Q
| 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: R368Q
|
| SMART Domains |
Protein: ENSMUSP00000138572
Gene: ENSMUSG00000010608
AA Change: R368Q
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
C |
A |
5: 138,645,188 (GRCm39) |
H358N |
probably benign |
Het |
| Abcg3 |
A |
G |
5: 105,087,094 (GRCm39) |
F543L |
possibly damaging |
Het |
| Asnsd1 |
T |
C |
1: 53,387,352 (GRCm39) |
T92A |
probably damaging |
Het |
| Atg2a |
G |
T |
19: 6,303,471 (GRCm39) |
|
probably null |
Het |
| Aven |
T |
A |
2: 112,461,191 (GRCm39) |
N327K |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,087,063 (GRCm39) |
V116A |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,806,629 (GRCm39) |
S250P |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,345,422 (GRCm39) |
I138T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,938 (GRCm39) |
Y2717H |
probably damaging |
Het |
| Eno1b |
C |
A |
18: 48,180,746 (GRCm39) |
T308K |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,372,857 (GRCm39) |
T949A |
probably benign |
Het |
| Fcrl5 |
C |
T |
3: 87,351,081 (GRCm39) |
T197M |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,416,023 (GRCm39) |
Q664L |
unknown |
Het |
| Fsip2 |
A |
T |
2: 82,819,412 (GRCm39) |
K5048N |
possibly damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,082,818 (GRCm39) |
L38P |
probably damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,058 (GRCm39) |
V162A |
possibly damaging |
Het |
| Grin3a |
A |
T |
4: 49,770,741 (GRCm39) |
M677K |
possibly damaging |
Het |
| Grm7 |
A |
G |
6: 111,335,785 (GRCm39) |
Y732C |
probably damaging |
Het |
| H2-T15 |
A |
C |
17: 36,367,235 (GRCm39) |
M329R |
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,209,906 (GRCm39) |
E104G |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,390 (GRCm39) |
S237P |
possibly damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,517 (GRCm39) |
V1272A |
probably damaging |
Het |
| Kif20a |
T |
A |
18: 34,762,613 (GRCm39) |
H495Q |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,071,668 (GRCm39) |
T852S |
|
Het |
| Mep1b |
T |
A |
18: 21,226,600 (GRCm39) |
D487E |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,305,911 (GRCm39) |
T656A |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,313,481 (GRCm39) |
W902R |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,555,372 (GRCm39) |
Y3640* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,722,536 (GRCm39) |
I2424T |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,534,998 (GRCm39) |
E91G |
possibly damaging |
Het |
| Prpf18 |
A |
G |
2: 4,650,435 (GRCm39) |
V65A |
probably benign |
Het |
| Pxmp2 |
A |
G |
5: 110,433,771 (GRCm39) |
V34A |
probably damaging |
Het |
| Ranbp2 |
T |
G |
10: 58,287,839 (GRCm39) |
Y36D |
probably damaging |
Het |
| Rims2 |
C |
A |
15: 39,339,885 (GRCm39) |
L860M |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,108 (GRCm39) |
M318L |
probably benign |
Het |
| Slc35b2 |
A |
G |
17: 45,875,955 (GRCm39) |
T55A |
probably benign |
Het |
| Trnp1 |
T |
C |
4: 133,225,416 (GRCm39) |
E118G |
possibly damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,049,785 (GRCm39) |
H1680Q |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,237,377 (GRCm39) |
I327T |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,367 (GRCm39) |
V66A |
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 |
|
|
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'- CGGGGAAAGTCTGTATACTGG -3'
(R):5'- TGCTCAGCTCCATTTGTGG -3'
Sequencing Primer
(F):5'- GGAAAGTCTGTATACTGGAGGTAC -3'
(R):5'- GGTGGCAAAAGCCTTTATTCCCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation