Incidental Mutation 'R1403:Rbm27'
ID |
160468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm27
|
Ensembl Gene |
ENSMUSG00000024491 |
Gene Name |
RNA binding motif protein 27 |
Synonyms |
Psc1 |
MMRRC Submission |
039465-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1403 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
42408418-42474607 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 42450746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 509
(S509P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046972]
[ENSMUST00000091920]
|
AlphaFold |
Q5SFM8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046972
AA Change: S509P
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041688 Gene: ENSMUSG00000024491 AA Change: S509P
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 |
possibly damaging
Transcript: ENSMUST00000091920
AA Change: S454P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000089540 Gene: ENSMUSG00000024491 AA Change: S454P
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 |
0.0583 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.5%
- 10x: 88.5%
- 20x: 65.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,267,411 (GRCm39) |
L2042F |
possibly damaging |
Het |
Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
Lingo2 |
A |
T |
4: 35,709,420 (GRCm39) |
C187S |
possibly damaging |
Het |
Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
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 |
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 |
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'- AGGAGTGTCTAATATAACTCACAGAGGAGTG -3'
(R):5'- CCCAGCATACAACTAAAATGGTCCGA -3'
Sequencing Primer
(F):5'- TGAAGAACACATACTTTGAACAGCTC -3'
(R):5'- gttcaaatcccagcaaccac -3'
|
Posted On |
2014-03-14 |