Incidental Mutation 'R0051:Rbm26'
ID |
64307 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm26
|
Ensembl Gene |
ENSMUSG00000022119 |
Gene Name |
RNA binding motif protein 26 |
Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
MMRRC Submission |
038345-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.585)
|
Stock # |
R0051 (G1)
|
Quality Score |
167 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
105344187-105414763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 105389976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 216
(V216G)
|
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 |
possibly damaging
Transcript: ENSMUST00000022715
AA Change: V216G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022715 Gene: ENSMUSG00000022119 AA Change: V216G
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 |
possibly damaging
Transcript: ENSMUST00000100327
AA Change: V216G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000097901 Gene: ENSMUSG00000022119 AA Change: V216G
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: V216G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128197 Gene: ENSMUSG00000022119 AA Change: V216G
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 |
possibly damaging
Transcript: ENSMUST00000163545
AA Change: V216G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126414 Gene: ENSMUSG00000022119 AA Change: V216G
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 |
|
Meta Mutation Damage Score |
0.0581 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
All alleles(33) : Gene trapped(33) |
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
Abr |
T |
A |
11: 76,363,328 (GRCm39) |
Q163L |
probably benign |
Het |
Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
Cimap1a |
C |
A |
7: 140,430,134 (GRCm39) |
|
probably benign |
Het |
Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
Dcp2 |
T |
A |
18: 44,538,441 (GRCm39) |
|
probably benign |
Het |
Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
Dnah7a |
T |
G |
1: 53,560,245 (GRCm39) |
|
probably benign |
Het |
Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
Emc1 |
T |
A |
4: 139,102,474 (GRCm39) |
M923K |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
Impg2 |
T |
A |
16: 56,078,411 (GRCm39) |
S458T |
probably damaging |
Het |
Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
Lnx2 |
A |
G |
5: 146,966,163 (GRCm39) |
F319L |
probably damaging |
Het |
Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,096,962 (GRCm39) |
S24P |
probably benign |
Het |
Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,547,509 (GRCm39) |
E1239G |
probably damaging |
Het |
Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
A |
T |
7: 5,325,333 (GRCm39) |
|
probably benign |
Het |
Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
Scarb1 |
C |
A |
5: 125,358,164 (GRCm39) |
|
probably null |
Het |
Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
T |
A |
2: 164,828,583 (GRCm39) |
W508R |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
Stac3 |
G |
A |
10: 127,344,017 (GRCm39) |
R305H |
probably damaging |
Het |
Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
Syna |
A |
T |
5: 134,588,397 (GRCm39) |
L184H |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
Het |
Zfp352 |
T |
C |
4: 90,112,522 (GRCm39) |
S221P |
probably damaging |
Het |
Zfp575 |
A |
G |
7: 24,285,512 (GRCm39) |
V43A |
probably benign |
Het |
Zfp775 |
A |
G |
6: 48,597,706 (GRCm39) |
T527A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTTATTACCGTGATGAGTAGGAGCA -3'
(R):5'- GGTCTTTACTGGGAAACCTTCTGTGC -3'
Sequencing Primer
(F):5'- CAATGACGGTAATGGTGCTGC -3'
(R):5'- tctcctcccaactccttctc -3'
|
Posted On |
2013-08-06 |