Incidental Mutation 'IGL01584:Rbm26'
| ID |
91471 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm26
|
| Ensembl Gene |
ENSMUSG00000022119 |
| Gene Name |
RNA binding motif protein 26 |
| Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.585)
|
| Stock # |
IGL01584
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
105344187-105414763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105368968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 737
(V737A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022715]
[ENSMUST00000100327]
[ENSMUST00000163499]
[ENSMUST00000163545]
[ENSMUST00000172122]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022715
AA Change: V737A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: V737A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWI
|
10 |
80 |
1.1e-9 |
PFAM |
|
low complexity region
|
102 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
215 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
289 |
315 |
2.61e-4 |
SMART |
|
low complexity region
|
330 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
409 |
N/A |
INTRINSIC |
|
RRM
|
533 |
602 |
7.74e-3 |
SMART |
|
low complexity region
|
722 |
735 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
753 |
820 |
6e-19 |
BLAST |
|
low complexity region
|
848 |
879 |
N/A |
INTRINSIC |
|
RRM
|
892 |
956 |
2.1e-1 |
SMART |
|
low complexity region
|
970 |
1002 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100327
AA Change: V713A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: V713A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWI
|
10 |
80 |
6.1e-10 |
PFAM |
|
low complexity region
|
102 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
215 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
289 |
315 |
2.61e-4 |
SMART |
|
low complexity region
|
330 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
409 |
N/A |
INTRINSIC |
|
RRM
|
533 |
602 |
7.74e-3 |
SMART |
|
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
729 |
796 |
6e-19 |
BLAST |
|
low complexity region
|
824 |
855 |
N/A |
INTRINSIC |
|
RRM
|
868 |
932 |
2.1e-1 |
SMART |
|
low complexity region
|
946 |
978 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163499
AA Change: V742A
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: V742A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWI
|
10 |
80 |
6.2e-10 |
PFAM |
|
low complexity region
|
102 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
215 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
289 |
315 |
2.61e-4 |
SMART |
|
low complexity region
|
330 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
409 |
N/A |
INTRINSIC |
|
RRM
|
538 |
607 |
7.74e-3 |
SMART |
|
low complexity region
|
727 |
740 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
758 |
825 |
6e-19 |
BLAST |
|
low complexity region
|
853 |
884 |
N/A |
INTRINSIC |
|
RRM
|
897 |
961 |
2.1e-1 |
SMART |
|
low complexity region
|
975 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
986 |
1001 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163545
AA Change: V739A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: V739A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PWI
|
11 |
81 |
1.5e-11 |
PFAM |
|
low complexity region
|
102 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
215 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
289 |
315 |
2.61e-4 |
SMART |
|
low complexity region
|
330 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
394 |
409 |
N/A |
INTRINSIC |
|
RRM
|
538 |
607 |
7.74e-3 |
SMART |
|
low complexity region
|
724 |
737 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
755 |
822 |
6e-19 |
BLAST |
|
low complexity region
|
850 |
881 |
N/A |
INTRINSIC |
|
RRM
|
894 |
958 |
2.1e-1 |
SMART |
|
low complexity region
|
972 |
1004 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172122
|
| SMART Domains |
Protein: ENSMUSP00000126804
Gene: ENSMUSG00000022119
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
1 |
46 |
3e-6 |
BLAST |
|
low complexity region
|
74 |
105 |
N/A |
INTRINSIC |
|
Pfam:RRM_1
|
125 |
180 |
1.1e-5 |
PFAM |
|
Pfam:RRM_5
|
132 |
184 |
1.7e-9 |
PFAM |
|
low complexity region
|
196 |
206 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(33) : Gene trapped(33) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,195,749 (GRCm39) |
V570A |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,748,637 (GRCm39) |
S323P |
possibly damaging |
Het |
| Adcy8 |
C |
T |
15: 64,687,170 (GRCm39) |
D445N |
probably damaging |
Het |
| Cdc14a |
A |
T |
3: 116,186,474 (GRCm39) |
Y102* |
probably null |
Het |
| Cubn |
A |
G |
2: 13,313,472 (GRCm39) |
|
probably benign |
Het |
| Dcaf7 |
T |
C |
11: 105,944,653 (GRCm39) |
S279P |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,511,567 (GRCm39) |
Q1514R |
probably damaging |
Het |
| Dtx2 |
G |
A |
5: 136,055,420 (GRCm39) |
S369N |
possibly damaging |
Het |
| Dusp11 |
A |
G |
6: 85,930,376 (GRCm39) |
F136S |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,047,632 (GRCm39) |
D227G |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,120,773 (GRCm39) |
V1215E |
unknown |
Het |
| Flg2 |
A |
T |
3: 93,122,777 (GRCm39) |
D1649V |
unknown |
Het |
| Gabbr2 |
T |
C |
4: 46,674,524 (GRCm39) |
K821R |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,590,761 (GRCm39) |
T516A |
probably benign |
Het |
| Gm15446 |
T |
A |
5: 110,088,668 (GRCm39) |
*64K |
probably null |
Het |
| Gm5900 |
T |
C |
7: 104,599,361 (GRCm39) |
|
noncoding transcript |
Het |
| Il17rb |
A |
G |
14: 29,725,637 (GRCm39) |
F121S |
probably damaging |
Het |
| Ip6k3 |
C |
A |
17: 27,370,034 (GRCm39) |
R128L |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,754,250 (GRCm39) |
|
probably benign |
Het |
| Lrrn4 |
A |
G |
2: 132,719,996 (GRCm39) |
L268P |
probably damaging |
Het |
| Mthfd1l |
C |
A |
10: 3,966,738 (GRCm39) |
S332R |
probably damaging |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or5t17 |
G |
A |
2: 86,832,495 (GRCm39) |
V61I |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,592,569 (GRCm39) |
E25G |
probably damaging |
Het |
| Prima1 |
A |
T |
12: 103,169,047 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
C |
T |
13: 11,616,644 (GRCm39) |
|
probably null |
Het |
| Sema5b |
G |
T |
16: 35,465,793 (GRCm39) |
C114F |
probably damaging |
Het |
| Spata31f1e |
A |
C |
4: 42,794,014 (GRCm39) |
S39R |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,943 (GRCm39) |
Y126C |
probably benign |
Het |
| Tmem171 |
T |
C |
13: 98,828,683 (GRCm39) |
|
probably null |
Het |
| Tnrc6b |
T |
A |
15: 80,763,883 (GRCm39) |
W462R |
probably benign |
Het |
| Trdmt1 |
T |
C |
2: 13,524,739 (GRCm39) |
R239G |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,796,350 (GRCm39) |
V583E |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,602,111 (GRCm39) |
V639A |
probably benign |
Het |
| Vmn1r206 |
T |
C |
13: 22,804,964 (GRCm39) |
K81R |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,383,197 (GRCm39) |
I599M |
probably benign |
Het |
|
| Other mutations in Rbm26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00708:Rbm26
|
APN |
14 |
105,397,396 (GRCm39) |
missense |
unknown |
|
|
IGL00948:Rbm26
|
APN |
14 |
105,387,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01726:Rbm26
|
APN |
14 |
105,389,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02095:Rbm26
|
APN |
14 |
105,381,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Rbm26
|
APN |
14 |
105,388,758 (GRCm39) |
missense |
probably damaging |
0.99 |
|
monte
|
UTSW |
14 |
105,380,270 (GRCm39) |
missense |
probably benign |
0.12 |
|
D4043:Rbm26
|
UTSW |
14 |
105,389,976 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
I0000:Rbm26
|
UTSW |
14 |
105,391,003 (GRCm39) |
missense |
unknown |
|
|
R0051:Rbm26
|
UTSW |
14 |
105,389,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0051:Rbm26
|
UTSW |
14 |
105,389,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0243:Rbm26
|
UTSW |
14 |
105,369,374 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0738:Rbm26
|
UTSW |
14 |
105,414,218 (GRCm39) |
missense |
unknown |
|
|
R1566:Rbm26
|
UTSW |
14 |
105,397,980 (GRCm39) |
missense |
unknown |
|
|
R1645:Rbm26
|
UTSW |
14 |
105,388,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Rbm26
|
UTSW |
14 |
105,354,509 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1809:Rbm26
|
UTSW |
14 |
105,354,542 (GRCm39) |
splice site |
probably benign |
|
|
R2144:Rbm26
|
UTSW |
14 |
105,352,638 (GRCm39) |
nonsense |
probably null |
|
|
R2321:Rbm26
|
UTSW |
14 |
105,390,863 (GRCm39) |
missense |
unknown |
|
|
R2495:Rbm26
|
UTSW |
14 |
105,388,748 (GRCm39) |
splice site |
probably benign |
|
|
R2906:Rbm26
|
UTSW |
14 |
105,380,270 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2907:Rbm26
|
UTSW |
14 |
105,380,270 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2908:Rbm26
|
UTSW |
14 |
105,380,270 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3034:Rbm26
|
UTSW |
14 |
105,390,881 (GRCm39) |
missense |
unknown |
|
|
R3427:Rbm26
|
UTSW |
14 |
105,368,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3818:Rbm26
|
UTSW |
14 |
105,378,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3863:Rbm26
|
UTSW |
14 |
105,358,504 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4448:Rbm26
|
UTSW |
14 |
105,388,986 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5022:Rbm26
|
UTSW |
14 |
105,381,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5040:Rbm26
|
UTSW |
14 |
105,358,452 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5626:Rbm26
|
UTSW |
14 |
105,381,667 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5817:Rbm26
|
UTSW |
14 |
105,366,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Rbm26
|
UTSW |
14 |
105,387,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Rbm26
|
UTSW |
14 |
105,368,971 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6608:Rbm26
|
UTSW |
14 |
105,389,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6821:Rbm26
|
UTSW |
14 |
105,354,400 (GRCm39) |
intron |
probably benign |
|
|
R7075:Rbm26
|
UTSW |
14 |
105,398,043 (GRCm39) |
missense |
unknown |
|
|
R7136:Rbm26
|
UTSW |
14 |
105,381,703 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7340:Rbm26
|
UTSW |
14 |
105,389,976 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7431:Rbm26
|
UTSW |
14 |
105,354,528 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7554:Rbm26
|
UTSW |
14 |
105,398,029 (GRCm39) |
missense |
unknown |
|
|
R7638:Rbm26
|
UTSW |
14 |
105,388,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Rbm26
|
UTSW |
14 |
105,380,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8536:Rbm26
|
UTSW |
14 |
105,380,274 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9180:Rbm26
|
UTSW |
14 |
105,391,039 (GRCm39) |
missense |
unknown |
|
|
RF004:Rbm26
|
UTSW |
14 |
105,388,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation