Incidental Mutation 'R3123:Rbm27'
ID |
264178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm27
|
Ensembl Gene |
ENSMUSG00000024491 |
Gene Name |
RNA binding motif protein 27 |
Synonyms |
Psc1 |
MMRRC Submission |
040596-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3123 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
42408418-42474607 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 42460230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 764
(E764G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046972]
[ENSMUST00000091920]
|
AlphaFold |
Q5SFM8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046972
AA Change: E720G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041688 Gene: ENSMUSG00000024491 AA Change: E720G
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 damaging
Transcript: ENSMUST00000091920
AA Change: E764G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089540 Gene: ENSMUSG00000024491 AA Change: E764G
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 |
0.1484 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak9 |
A |
G |
10: 41,234,576 (GRCm39) |
I646V |
possibly damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
Csn1s2b |
T |
C |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
Ctsa |
T |
A |
2: 164,677,152 (GRCm39) |
|
probably null |
Het |
Cyp2j8 |
G |
A |
4: 96,389,450 (GRCm39) |
|
probably benign |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Dhx9 |
T |
C |
1: 153,341,452 (GRCm39) |
K599E |
possibly damaging |
Het |
Duox2 |
A |
G |
2: 122,111,554 (GRCm39) |
|
probably benign |
Het |
F2rl3 |
T |
C |
8: 73,489,840 (GRCm39) |
S356P |
probably damaging |
Het |
Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
Gpr75 |
T |
A |
11: 30,841,709 (GRCm39) |
S205T |
possibly damaging |
Het |
Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
Htt |
T |
C |
5: 34,961,875 (GRCm39) |
S287P |
probably benign |
Het |
Ifi27l2b |
T |
C |
12: 103,417,594 (GRCm39) |
T198A |
unknown |
Het |
Kdm5d |
T |
C |
Y: 900,558 (GRCm39) |
V201A |
possibly damaging |
Het |
Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
Lonp1 |
A |
G |
17: 56,933,488 (GRCm39) |
I129T |
possibly damaging |
Het |
Macc1 |
T |
C |
12: 119,411,368 (GRCm39) |
F712S |
probably damaging |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
Or10ag53 |
A |
T |
2: 87,083,135 (GRCm39) |
T285S |
possibly damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,765 (GRCm39) |
Y59C |
probably damaging |
Het |
Or2y3 |
G |
A |
17: 38,392,903 (GRCm39) |
|
probably null |
Het |
Pkd1l1 |
T |
A |
11: 8,923,021 (GRCm39) |
D82V |
unknown |
Het |
Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
Ppwd1 |
C |
T |
13: 104,350,198 (GRCm39) |
E396K |
possibly damaging |
Het |
Prr30 |
A |
G |
14: 101,436,425 (GRCm39) |
S46P |
probably benign |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Ptpn4 |
A |
G |
1: 119,693,153 (GRCm39) |
|
probably null |
Het |
Rad18 |
A |
T |
6: 112,658,307 (GRCm39) |
D199E |
probably benign |
Het |
Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Taf15 |
G |
A |
11: 83,395,154 (GRCm39) |
|
probably null |
Het |
Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
Tgfbr2 |
G |
A |
9: 115,939,137 (GRCm39) |
T230M |
possibly damaging |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Upf1 |
A |
G |
8: 70,790,133 (GRCm39) |
|
probably benign |
Het |
Vmn2r109 |
C |
T |
17: 20,761,248 (GRCm39) |
C703Y |
probably damaging |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
Zfp777 |
A |
G |
6: 48,006,050 (GRCm39) |
|
probably benign |
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 |
|
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 |
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'- AGTCCTGGGCTTATAGACATGTTC -3'
(R):5'- ACTTTGGACGGTGTGGAGAC -3'
Sequencing Primer
(F):5'- GACATGTTCTAGCCACATTGTATACC -3'
(R):5'- AGATCTTCTCTCCCAGTTCTTTCAAG -3'
|
Posted On |
2015-02-05 |