Incidental Mutation 'R6812:Rbm27'
ID |
533877 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm27
|
Ensembl Gene |
ENSMUSG00000024491 |
Gene Name |
RNA binding motif protein 27 |
Synonyms |
Psc1 |
MMRRC Submission |
044924-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6812 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42408418-42474607 bp(+) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
T to A
at 42466468 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 null
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 null
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 97.4%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
C |
T |
16: 56,616,161 (GRCm39) |
|
probably benign |
Het |
Ak9 |
A |
T |
10: 41,243,163 (GRCm39) |
M686L |
unknown |
Het |
Ap3b1 |
A |
T |
13: 94,616,369 (GRCm39) |
T757S |
unknown |
Het |
Apob |
A |
T |
12: 8,033,062 (GRCm39) |
K139N |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,094,037 (GRCm39) |
E270G |
possibly damaging |
Het |
Atp1a2 |
A |
T |
1: 172,112,444 (GRCm39) |
C515S |
probably benign |
Het |
Bicd1 |
T |
C |
6: 149,311,035 (GRCm39) |
Y37H |
probably damaging |
Het |
Birc2 |
T |
G |
9: 7,854,418 (GRCm39) |
D424A |
probably damaging |
Het |
Ccdc97 |
A |
T |
7: 25,412,469 (GRCm39) |
F324L |
probably damaging |
Het |
Crim1 |
T |
A |
17: 78,623,029 (GRCm39) |
I409N |
probably damaging |
Het |
Cul7 |
T |
A |
17: 46,972,335 (GRCm39) |
I1233N |
probably benign |
Het |
Dcaf1 |
T |
C |
9: 106,735,268 (GRCm39) |
S739P |
probably damaging |
Het |
Ddb1 |
T |
C |
19: 10,599,863 (GRCm39) |
|
probably null |
Het |
Dennd5b |
T |
C |
6: 148,982,630 (GRCm39) |
|
probably benign |
Het |
Dna2 |
A |
G |
10: 62,795,120 (GRCm39) |
S464G |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,872,155 (GRCm39) |
V2692M |
probably damaging |
Het |
Dvl2 |
T |
C |
11: 69,891,821 (GRCm39) |
Y55H |
probably damaging |
Het |
Eif4g3 |
G |
T |
4: 137,830,687 (GRCm39) |
Q140H |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,467 (GRCm39) |
V460M |
probably benign |
Het |
Etv2 |
G |
T |
7: 30,333,426 (GRCm39) |
C265* |
probably null |
Het |
F12 |
T |
C |
13: 55,569,658 (GRCm39) |
E146G |
probably damaging |
Het |
Fdps |
C |
A |
3: 89,001,783 (GRCm39) |
E301D |
possibly damaging |
Het |
Fsd2 |
G |
T |
7: 81,184,837 (GRCm39) |
H686Q |
probably benign |
Het |
Gk5 |
T |
C |
9: 96,032,802 (GRCm39) |
S262P |
probably damaging |
Het |
Gm20730 |
A |
G |
6: 43,058,722 (GRCm39) |
V30A |
probably benign |
Het |
Gpr68 |
C |
A |
12: 100,844,670 (GRCm39) |
E291D |
probably damaging |
Het |
Gucy2c |
A |
G |
6: 136,674,993 (GRCm39) |
V1006A |
probably benign |
Het |
Itgb1 |
T |
A |
8: 129,431,891 (GRCm39) |
|
probably null |
Het |
Kif2a |
A |
T |
13: 107,106,259 (GRCm39) |
D570E |
probably benign |
Het |
Krt8 |
G |
T |
15: 101,906,414 (GRCm39) |
A365D |
probably damaging |
Het |
Lias |
T |
A |
5: 65,566,132 (GRCm39) |
V373E |
possibly damaging |
Het |
Mpl |
A |
G |
4: 118,312,461 (GRCm39) |
V169A |
probably benign |
Het |
Myh3 |
T |
A |
11: 66,977,228 (GRCm39) |
I319N |
probably damaging |
Het |
Myrfl |
T |
A |
10: 116,668,818 (GRCm39) |
K315I |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,340,108 (GRCm39) |
D803G |
probably damaging |
Het |
Obi1 |
A |
G |
14: 104,747,868 (GRCm39) |
V40A |
unknown |
Het |
Or5b119 |
T |
C |
19: 13,456,975 (GRCm39) |
T196A |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,178,701 (GRCm39) |
S536P |
possibly damaging |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Prkaa2 |
T |
A |
4: 104,904,349 (GRCm39) |
T243S |
probably benign |
Het |
Prrc2b |
T |
A |
2: 32,103,153 (GRCm39) |
V877D |
probably benign |
Het |
Rbm48 |
A |
G |
5: 3,646,105 (GRCm39) |
V33A |
probably benign |
Het |
Rev3l |
G |
T |
10: 39,699,544 (GRCm39) |
R1347L |
probably benign |
Het |
Rtp3 |
A |
G |
9: 110,816,180 (GRCm39) |
F124L |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,777,251 (GRCm39) |
G302D |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,314,819 (GRCm39) |
N314S |
probably benign |
Het |
Sik3 |
C |
T |
9: 46,122,067 (GRCm39) |
R907W |
probably damaging |
Het |
Sox5 |
C |
T |
6: 144,062,169 (GRCm39) |
|
probably null |
Het |
Tmc1 |
A |
C |
19: 20,878,225 (GRCm39) |
L90R |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,249,130 (GRCm39) |
V201A |
probably benign |
Het |
Uvrag |
T |
A |
7: 98,537,689 (GRCm39) |
H502L |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,434,859 (GRCm39) |
I1760N |
probably damaging |
Het |
Zfp318 |
G |
GAAGAAT |
17: 46,723,468 (GRCm39) |
|
probably benign |
Het |
Zfp772 |
T |
C |
7: 7,209,307 (GRCm39) |
D61G |
possibly 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 |
R3711:Rbm27
|
UTSW |
18 |
42,425,177 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- TATTTTACCTGTGGGGAGAGGAAAG -3'
(R):5'- TTGGAACACCATGCCACTAC -3'
Sequencing Primer
(F):5'- GGAGAGGAAAGACCATATCCTCTC -3'
(R):5'- CCATGCCACTACAAACATGTTTATG -3'
|
Posted On |
2018-09-12 |