Incidental Mutation 'R7969:Rbm27'
| ID |
650526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm27
|
| Ensembl Gene |
ENSMUSG00000024491 |
| Gene Name |
RNA binding motif protein 27 |
| Synonyms |
Psc1 |
| MMRRC Submission |
046012-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7969 (G1)
|
| Quality Score |
176.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
42408418-42474607 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to T
at 42408545 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahcyl2 |
T |
A |
6: 29,870,663 (GRCm39) |
I193N |
probably damaging |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Atf6b |
A |
T |
17: 34,867,549 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
G |
1: 136,004,470 (GRCm39) |
F337C |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,174,280 (GRCm39) |
I488V |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,720,892 (GRCm39) |
D375E |
probably damaging |
Het |
| Cnga4 |
T |
C |
7: 105,055,253 (GRCm39) |
F279S |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,844,181 (GRCm39) |
V95A |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,066,466 (GRCm39) |
F235S |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,354,165 (GRCm39) |
D427G |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,342,178 (GRCm39) |
Y529H |
probably benign |
Het |
| Epx |
C |
T |
11: 87,763,547 (GRCm39) |
M224I |
probably benign |
Het |
| Fetub |
A |
G |
16: 22,748,449 (GRCm39) |
R101G |
possibly damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,883 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
C |
T |
9: 108,439,505 (GRCm39) |
R153* |
probably null |
Het |
| Kcnj12 |
C |
T |
11: 60,960,430 (GRCm39) |
Q243* |
probably null |
Het |
| Lrrn1 |
T |
A |
6: 107,544,811 (GRCm39) |
V203E |
probably damaging |
Het |
| Meikin |
T |
C |
11: 54,300,536 (GRCm39) |
S338P |
possibly damaging |
Het |
| Myl10 |
A |
T |
5: 136,729,707 (GRCm39) |
|
probably null |
Het |
| Nt5c3b |
T |
C |
11: 100,325,567 (GRCm39) |
K120E |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,547 (GRCm39) |
L211H |
probably damaging |
Het |
| Or2h1b |
T |
A |
17: 37,462,077 (GRCm39) |
N262I |
possibly damaging |
Het |
| Or6c1 |
G |
A |
10: 129,517,699 (GRCm39) |
T303I |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,716 (GRCm39) |
L313S |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,024,664 (GRCm39) |
S452P |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,179,034 (GRCm39) |
I2982V |
probably damaging |
Het |
| Ptpdc1 |
G |
A |
13: 48,740,577 (GRCm39) |
R285C |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,597,249 (GRCm39) |
D486G |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,461,378 (GRCm39) |
Y1475C |
possibly damaging |
Het |
| Snx14 |
G |
A |
9: 88,295,613 (GRCm39) |
T184M |
probably damaging |
Het |
| Tgm5 |
G |
T |
2: 120,905,650 (GRCm39) |
N168K |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,891 (GRCm39) |
V47A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,558,568 (GRCm39) |
H3599R |
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,122,896 (GRCm39) |
E211G |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,452,604 (GRCm39) |
H832Q |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,772 (GRCm39) |
V250D |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,493,252 (GRCm39) |
S462P |
unknown |
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 |
|
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 |
|
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'- TCTACCGCCTATTGGTTAGTCG -3'
(R):5'- AAAATCCCTCGACAGTCGCG -3'
Sequencing Primer
(F):5'- ATTGGTTAGTCGGCCCGTCAC -3'
(R):5'- CACAGCGGACTAGGACCAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation