Incidental Mutation 'IGL02095:Rbm26'
| ID |
279557 |
| 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: 0.647)
|
| Stock # |
IGL02095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
105344187-105414763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105381696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 488
(I488K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022715]
[ENSMUST00000100327]
[ENSMUST00000163499]
[ENSMUST00000163545]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022715
AA Change: I483K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: I483K
| 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: I483K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: I483K
| 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 |
probably damaging
Transcript: ENSMUST00000163499
AA Change: I488K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: I488K
| 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: I488K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: I488K
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(33) : Gene trapped(33) |
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,583 (GRCm39) |
Q794L |
probably benign |
Het |
| Acrbp |
C |
A |
6: 125,030,919 (GRCm39) |
Y313* |
probably null |
Het |
| Adam9 |
A |
G |
8: 25,486,745 (GRCm39) |
S178P |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,909 (GRCm39) |
I244V |
possibly damaging |
Het |
| Atad5 |
A |
G |
11: 79,985,533 (GRCm39) |
S207G |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,457,141 (GRCm39) |
D880G |
probably damaging |
Het |
| Cadps2 |
A |
G |
6: 23,427,309 (GRCm39) |
I573T |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,653,845 (GRCm39) |
D494G |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,360,232 (GRCm39) |
E438G |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,980 (GRCm39) |
D37G |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,699,157 (GRCm39) |
E36G |
possibly damaging |
Het |
| Ddx54 |
G |
A |
5: 120,761,856 (GRCm39) |
G544D |
possibly damaging |
Het |
| Dok2 |
G |
T |
14: 71,015,301 (GRCm39) |
G343W |
possibly damaging |
Het |
| Dscaml1 |
A |
G |
9: 45,359,001 (GRCm39) |
N87D |
probably damaging |
Het |
| Ehf |
T |
C |
2: 103,097,336 (GRCm39) |
Y237C |
probably damaging |
Het |
| Exoc3 |
T |
C |
13: 74,328,655 (GRCm39) |
T569A |
probably damaging |
Het |
| Fam151a |
T |
C |
4: 106,605,072 (GRCm39) |
V478A |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,942,924 (GRCm39) |
H291L |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,330,167 (GRCm39) |
T186A |
unknown |
Het |
| Ggnbp2 |
T |
C |
11: 84,723,954 (GRCm39) |
Y660C |
probably damaging |
Het |
| Ggt5 |
G |
A |
10: 75,444,637 (GRCm39) |
M318I |
probably benign |
Het |
| Gprc5d |
A |
G |
6: 135,093,175 (GRCm39) |
I244T |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,123,613 (GRCm39) |
S429P |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,920,892 (GRCm39) |
D1341G |
probably damaging |
Het |
| Kcnq4 |
T |
C |
4: 120,557,224 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,432,497 (GRCm39) |
D173G |
probably damaging |
Het |
| Lrrc27 |
C |
T |
7: 138,810,169 (GRCm39) |
T380I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,749 (GRCm39) |
N125S |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,628,998 (GRCm39) |
R2217C |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,322,527 (GRCm39) |
R866W |
probably damaging |
Het |
| Or10s1 |
T |
A |
9: 39,985,967 (GRCm39) |
Y125* |
probably null |
Het |
| Or4d10b |
C |
A |
19: 12,036,913 (GRCm39) |
V68F |
probably benign |
Het |
| P2ry6 |
T |
A |
7: 100,588,071 (GRCm39) |
D96V |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,710,605 (GRCm39) |
S237T |
probably benign |
Het |
| Pck2 |
G |
A |
14: 55,779,967 (GRCm39) |
R72Q |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 115,945,423 (GRCm39) |
R1461Q |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,504,678 (GRCm39) |
V1130A |
possibly damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,832 (GRCm39) |
D198E |
probably benign |
Het |
| Rasa1 |
T |
A |
13: 85,364,274 (GRCm39) |
E1022D |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,718,748 (GRCm39) |
Y507H |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,774,645 (GRCm39) |
E1170D |
probably damaging |
Het |
| Sdk2 |
T |
G |
11: 113,725,656 (GRCm39) |
T1198P |
probably damaging |
Het |
| Sema3g |
C |
T |
14: 30,949,781 (GRCm39) |
T654I |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,999,408 (GRCm39) |
H1108L |
probably damaging |
Het |
| Trgc2 |
T |
A |
13: 19,491,580 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
T |
C |
4: 41,229,709 (GRCm39) |
N142S |
probably benign |
Het |
| Usp33 |
T |
C |
3: 152,087,431 (GRCm39) |
F699L |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,006,207 (GRCm39) |
|
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 |
|
IGL01584:Rbm26
|
APN |
14 |
105,368,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01726:Rbm26
|
APN |
14 |
105,389,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2015-04-16 |
Incidental Mutation