Incidental Mutation 'IGL03031:Rbm27'
ID |
408473 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbm27
|
Ensembl Gene |
ENSMUSG00000024491 |
Gene Name |
RNA binding motif protein 27 |
Synonyms |
Psc1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03031
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
42408418-42474607 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 42466464 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,353,183 (GRCm39) |
D753G |
probably benign |
Het |
Adat2 |
T |
C |
10: 13,432,590 (GRCm39) |
|
probably benign |
Het |
Ahsa2 |
A |
G |
11: 23,440,426 (GRCm39) |
L275S |
probably benign |
Het |
Arhgef38 |
C |
T |
3: 132,837,828 (GRCm39) |
D118N |
possibly damaging |
Het |
Bicra |
A |
T |
7: 15,709,726 (GRCm39) |
H1097Q |
probably benign |
Het |
C4b |
T |
C |
17: 34,950,104 (GRCm39) |
T1389A |
possibly damaging |
Het |
Cd180 |
A |
G |
13: 102,841,535 (GRCm39) |
S194G |
probably benign |
Het |
Chgb |
C |
A |
2: 132,635,434 (GRCm39) |
Q459K |
probably benign |
Het |
Clvs1 |
G |
T |
4: 9,449,385 (GRCm39) |
|
probably benign |
Het |
Cpox |
G |
A |
16: 58,492,923 (GRCm39) |
G186R |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,553,975 (GRCm39) |
|
probably benign |
Het |
Epsti1 |
G |
A |
14: 78,212,021 (GRCm39) |
R249K |
probably benign |
Het |
Gabrg1 |
A |
T |
5: 70,952,025 (GRCm39) |
Y90* |
probably null |
Het |
Gabrp |
T |
C |
11: 33,504,980 (GRCm39) |
R274G |
probably damaging |
Het |
Gm6401 |
C |
T |
14: 41,788,851 (GRCm39) |
E73K |
possibly damaging |
Het |
Hectd4 |
C |
T |
5: 121,486,857 (GRCm39) |
T3284M |
possibly damaging |
Het |
Hoxc9 |
T |
C |
15: 102,892,522 (GRCm39) |
M245T |
probably damaging |
Het |
Lpar6 |
T |
C |
14: 73,476,882 (GRCm39) |
V281A |
possibly damaging |
Het |
Med18 |
G |
T |
4: 132,186,924 (GRCm39) |
Q192K |
possibly damaging |
Het |
Mis18bp1 |
A |
G |
12: 65,208,704 (GRCm39) |
V3A |
probably benign |
Het |
Mpped2 |
G |
T |
2: 106,613,968 (GRCm39) |
|
probably benign |
Het |
Ms4a10 |
A |
G |
19: 10,946,035 (GRCm39) |
V32A |
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,968,601 (GRCm39) |
|
probably null |
Het |
Myh1 |
A |
T |
11: 67,097,213 (GRCm39) |
Q422L |
possibly damaging |
Het |
Myo3b |
A |
T |
2: 70,085,721 (GRCm39) |
Q819L |
possibly damaging |
Het |
Ncoa1 |
G |
A |
12: 4,324,818 (GRCm39) |
T921I |
possibly damaging |
Het |
Or10d4b |
A |
G |
9: 39,534,694 (GRCm39) |
I92V |
probably damaging |
Het |
Or6c214 |
A |
G |
10: 129,591,238 (GRCm39) |
L27P |
possibly damaging |
Het |
Or8c16 |
A |
C |
9: 38,130,361 (GRCm39) |
T81P |
probably damaging |
Het |
Phf3 |
A |
G |
1: 30,843,734 (GRCm39) |
S1742P |
probably benign |
Het |
Plxdc2 |
G |
A |
2: 16,655,043 (GRCm39) |
|
probably null |
Het |
Poc5 |
A |
G |
13: 96,538,123 (GRCm39) |
T263A |
probably benign |
Het |
Prss41 |
T |
A |
17: 24,061,396 (GRCm39) |
I132F |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,707,195 (GRCm39) |
I329T |
probably benign |
Het |
Rnps1-ps |
T |
C |
6: 7,982,857 (GRCm39) |
|
noncoding transcript |
Het |
Rpgrip1l |
A |
T |
8: 91,987,411 (GRCm39) |
V882E |
probably damaging |
Het |
Sec16b |
T |
C |
1: 157,388,369 (GRCm39) |
S579P |
probably benign |
Het |
Senp7 |
A |
G |
16: 55,996,249 (GRCm39) |
E776G |
probably damaging |
Het |
Smc2 |
A |
G |
4: 52,449,638 (GRCm39) |
I207V |
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,817,664 (GRCm39) |
F123L |
probably benign |
Het |
Spats2 |
A |
G |
15: 99,078,569 (GRCm39) |
T211A |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Syt11 |
A |
T |
3: 88,656,148 (GRCm39) |
M1K |
probably null |
Het |
Tacc2 |
A |
G |
7: 130,225,585 (GRCm39) |
T757A |
possibly damaging |
Het |
Tecta |
A |
C |
9: 42,256,789 (GRCm39) |
M1629R |
probably benign |
Het |
Ufsp2 |
T |
A |
8: 46,437,137 (GRCm39) |
I101N |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,235,368 (GRCm39) |
C892S |
probably damaging |
Het |
Ush1c |
A |
G |
7: 45,874,361 (GRCm39) |
|
probably benign |
Het |
Vwde |
A |
T |
6: 13,208,381 (GRCm39) |
V167E |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,862,608 (GRCm39) |
L588P |
probably damaging |
Het |
Zfyve1 |
T |
C |
12: 83,621,595 (GRCm39) |
T267A |
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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |