Incidental Mutation 'R3711:Rbm27'
| ID |
259632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm27
|
| Ensembl Gene |
ENSMUSG00000024491 |
| Gene Name |
RNA binding motif protein 27 |
| Synonyms |
Psc1 |
| MMRRC Submission |
040704-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3711 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
42408418-42474607 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 42425177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046972]
[ENSMUST00000091920]
|
| AlphaFold |
Q5SFM8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046972
|
| SMART Domains |
Protein: ENSMUSP00000041688
Gene: ENSMUSG00000024491
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWI
|
7 |
77 |
1.4e-10 |
PFAM |
|
low complexity region
|
78 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
Pfam:zf-CCCH
|
274 |
300 |
5.2e-7 |
PFAM |
|
low complexity region
|
317 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
555 |
N/A |
INTRINSIC |
|
SCOP:d1l3ka2
|
598 |
638 |
1e-4 |
SMART |
|
Blast:RRM
|
601 |
643 |
2e-11 |
BLAST |
|
Blast:RRM_2
|
744 |
782 |
3e-6 |
BLAST |
|
low complexity region
|
783 |
798 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
865 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
953 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091920
|
| SMART Domains |
Protein: ENSMUSP00000089540
Gene: ENSMUSG00000024491
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWI
|
7 |
77 |
1.5e-10 |
PFAM |
|
low complexity region
|
78 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
Pfam:zf-CCCH
|
274 |
300 |
5.5e-7 |
PFAM |
|
low complexity region
|
317 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
low complexity region
|
486 |
500 |
N/A |
INTRINSIC |
|
RRM
|
546 |
615 |
7.94e-3 |
SMART |
|
low complexity region
|
623 |
658 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
788 |
826 |
3e-6 |
BLAST |
|
low complexity region
|
827 |
842 |
N/A |
INTRINSIC |
|
low complexity region
|
897 |
909 |
N/A |
INTRINSIC |
|
low complexity region
|
968 |
982 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
997 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,837,081 (GRCm39) |
V1138A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,567,594 (GRCm39) |
I5193K |
probably benign |
Het |
| Adnp |
A |
T |
2: 168,026,743 (GRCm39) |
I184N |
probably damaging |
Het |
| Ahnak |
T |
G |
19: 8,985,262 (GRCm39) |
V2182G |
probably benign |
Het |
| Aif1l |
T |
A |
2: 31,859,763 (GRCm39) |
F94L |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,385,838 (GRCm39) |
G494D |
probably benign |
Het |
| Atic |
T |
A |
1: 71,617,738 (GRCm39) |
S563T |
probably benign |
Het |
| Bahcc1 |
A |
T |
11: 120,165,923 (GRCm39) |
I1060F |
probably benign |
Het |
| Cd27 |
A |
G |
6: 125,210,281 (GRCm39) |
Y189H |
probably damaging |
Het |
| Dnm2 |
C |
A |
9: 21,417,669 (GRCm39) |
|
probably benign |
Het |
| Exo1 |
A |
G |
1: 175,721,395 (GRCm39) |
T345A |
probably benign |
Het |
| Fbf1 |
T |
C |
11: 116,052,299 (GRCm39) |
H53R |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,054,179 (GRCm39) |
I29T |
probably damaging |
Het |
| Gm14399 |
G |
A |
2: 174,973,303 (GRCm39) |
R151* |
probably null |
Het |
| Gsdma |
T |
A |
11: 98,557,045 (GRCm39) |
Y53* |
probably null |
Het |
| Hid1 |
A |
T |
11: 115,249,601 (GRCm39) |
L208Q |
probably damaging |
Het |
| Kif4-ps |
A |
G |
12: 101,112,312 (GRCm39) |
E147G |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,640 (GRCm39) |
V245D |
probably benign |
Het |
| Klhdc4 |
A |
G |
8: 122,524,794 (GRCm39) |
V378A |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,378,188 (GRCm39) |
E423G |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,332,299 (GRCm39) |
N1665K |
probably benign |
Het |
| Mast3 |
C |
A |
8: 71,232,251 (GRCm39) |
R1242L |
probably benign |
Het |
| Mon1b |
T |
C |
8: 114,365,779 (GRCm39) |
M369T |
possibly damaging |
Het |
| Mta3 |
A |
G |
17: 84,070,417 (GRCm39) |
I193V |
probably damaging |
Het |
| Narf |
G |
T |
11: 121,137,764 (GRCm39) |
E224* |
probably null |
Het |
| Nedd4l |
G |
A |
18: 65,342,790 (GRCm39) |
V909I |
possibly damaging |
Het |
| Nmnat3 |
T |
A |
9: 98,292,276 (GRCm39) |
Y108N |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,643,378 (GRCm39) |
Y534F |
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,492,713 (GRCm39) |
M223L |
probably benign |
Het |
| Optc |
A |
T |
1: 133,832,819 (GRCm39) |
S94T |
probably benign |
Het |
| Or10al5 |
T |
A |
17: 38,063,271 (GRCm39) |
C175* |
probably null |
Het |
| Or1l4 |
A |
G |
2: 37,091,285 (GRCm39) |
T11A |
probably benign |
Het |
| Or5d47 |
A |
T |
2: 87,804,066 (GRCm39) |
N314K |
probably benign |
Het |
| Or6c206 |
A |
T |
10: 129,097,093 (GRCm39) |
K88* |
probably null |
Het |
| Or8w1 |
T |
C |
2: 87,466,025 (GRCm39) |
D22G |
probably benign |
Het |
| Spopl |
C |
T |
2: 23,427,392 (GRCm39) |
R221Q |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,702,572 (GRCm39) |
L423P |
probably damaging |
Het |
| Sun5 |
A |
G |
2: 153,709,468 (GRCm39) |
V74A |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,152 (GRCm39) |
D585G |
possibly damaging |
Het |
| Tmt1a3 |
A |
T |
15: 100,232,961 (GRCm39) |
M51L |
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,613,950 (GRCm39) |
T863A |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,542,489 (GRCm39) |
G3352S |
probably benign |
Het |
| Wt1 |
G |
A |
2: 104,993,773 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
T |
18: 44,966,240 (GRCm39) |
L159F |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,251 (GRCm39) |
N1094S |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,347,830 (GRCm39) |
S2070P |
possibly damaging |
Het |
| Zfp648 |
T |
A |
1: 154,080,304 (GRCm39) |
S154R |
probably benign |
Het |
| Zfp748 |
A |
G |
13: 67,688,915 (GRCm39) |
C782R |
probably damaging |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
Het |
|
| Other mutations in Rbm27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Rbm27
|
APN |
18 |
42,452,879 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01630:Rbm27
|
APN |
18 |
42,434,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02045:Rbm27
|
APN |
18 |
42,452,978 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03031:Rbm27
|
APN |
18 |
42,466,464 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03085:Rbm27
|
APN |
18 |
42,460,589 (GRCm39) |
splice site |
probably benign |
|
|
IGL03249:Rbm27
|
APN |
18 |
42,434,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03372:Rbm27
|
APN |
18 |
42,438,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
messenger
|
UTSW |
18 |
42,466,468 (GRCm39) |
splice site |
probably null |
|
|
R0048:Rbm27
|
UTSW |
18 |
42,431,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0048:Rbm27
|
UTSW |
18 |
42,431,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0111:Rbm27
|
UTSW |
18 |
42,438,737 (GRCm39) |
splice site |
probably benign |
|
|
R0122:Rbm27
|
UTSW |
18 |
42,447,033 (GRCm39) |
intron |
probably benign |
|
|
R0707:Rbm27
|
UTSW |
18 |
42,459,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1253:Rbm27
|
UTSW |
18 |
42,434,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1268:Rbm27
|
UTSW |
18 |
42,466,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1317:Rbm27
|
UTSW |
18 |
42,457,116 (GRCm39) |
splice site |
probably benign |
|
|
R1403:Rbm27
|
UTSW |
18 |
42,450,746 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1403:Rbm27
|
UTSW |
18 |
42,450,746 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2187:Rbm27
|
UTSW |
18 |
42,459,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2358:Rbm27
|
UTSW |
18 |
42,425,177 (GRCm39) |
splice site |
probably benign |
|
|
R3123:Rbm27
|
UTSW |
18 |
42,460,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Rbm27
|
UTSW |
18 |
42,425,177 (GRCm39) |
splice site |
probably benign |
|
|
R4616:Rbm27
|
UTSW |
18 |
42,434,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4839:Rbm27
|
UTSW |
18 |
42,460,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Rbm27
|
UTSW |
18 |
42,471,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5308:Rbm27
|
UTSW |
18 |
42,460,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Rbm27
|
UTSW |
18 |
42,450,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5868:Rbm27
|
UTSW |
18 |
42,433,450 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6058:Rbm27
|
UTSW |
18 |
42,460,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Rbm27
|
UTSW |
18 |
42,466,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6499:Rbm27
|
UTSW |
18 |
42,470,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6658:Rbm27
|
UTSW |
18 |
42,457,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6700:Rbm27
|
UTSW |
18 |
42,459,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6784:Rbm27
|
UTSW |
18 |
42,434,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6812:Rbm27
|
UTSW |
18 |
42,466,468 (GRCm39) |
splice site |
probably null |
|
|
R7162:Rbm27
|
UTSW |
18 |
42,447,092 (GRCm39) |
missense |
unknown |
|
|
R7606:Rbm27
|
UTSW |
18 |
42,460,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Rbm27
|
UTSW |
18 |
42,465,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7969:Rbm27
|
UTSW |
18 |
42,408,545 (GRCm39) |
start gained |
probably benign |
|
|
R8177:Rbm27
|
UTSW |
18 |
42,457,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9052:Rbm27
|
UTSW |
18 |
42,465,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Rbm27
|
UTSW |
18 |
42,438,829 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9206:Rbm27
|
UTSW |
18 |
42,447,163 (GRCm39) |
nonsense |
probably null |
|
|
R9269:Rbm27
|
UTSW |
18 |
42,460,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9270:Rbm27
|
UTSW |
18 |
42,438,829 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9680:Rbm27
|
UTSW |
18 |
42,455,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0065:Rbm27
|
UTSW |
18 |
42,432,385 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Z1176:Rbm27
|
UTSW |
18 |
42,466,299 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Rbm27
|
UTSW |
18 |
42,471,517 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAACAGTATCTAAACTTTCCAG -3'
(R):5'- CCAAGTCTCTGTATGTACCCAAAC -3'
Sequencing Primer
(F):5'- GACTTCAGGTTTTGTGGAC -3'
(R):5'- GCAAGTTCCACTACATAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation