Incidental Mutation 'R3818:Rbm26'
ID |
274795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm26
|
Ensembl Gene |
ENSMUSG00000022119 |
Gene Name |
RNA binding motif protein 26 |
Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
MMRRC Submission |
040772-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.585)
|
Stock # |
R3818 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
105344187-105414763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105378706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 594
(L594I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022715
(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: L594I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022715 Gene: ENSMUSG00000022119 AA Change: L594I
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: L594I
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097901 Gene: ENSMUSG00000022119 AA Change: L594I
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: L599I
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128197 Gene: ENSMUSG00000022119 AA Change: L599I
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: L599I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126414 Gene: ENSMUSG00000022119 AA Change: L599I
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 |
0.1907 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
All alleles(33) : Gene trapped(33) |
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310011J03Rik |
T |
C |
10: 80,155,351 (GRCm39) |
D54G |
probably damaging |
Het |
Adra2b |
G |
T |
2: 127,205,755 (GRCm39) |
E86* |
probably null |
Het |
Cachd1 |
A |
T |
4: 100,848,062 (GRCm39) |
D1059V |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,453,817 (GRCm39) |
V358A |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,343,720 (GRCm39) |
K396R |
possibly damaging |
Het |
Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
Cyp4a12b |
A |
T |
4: 115,289,667 (GRCm39) |
D178V |
probably damaging |
Het |
Cyp4a30b |
G |
T |
4: 115,316,206 (GRCm39) |
A311S |
probably damaging |
Het |
Dse |
T |
C |
10: 34,029,429 (GRCm39) |
I554V |
probably benign |
Het |
Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
Gpr21 |
C |
A |
2: 37,408,324 (GRCm39) |
T290N |
probably damaging |
Het |
Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
Mamdc4 |
C |
T |
2: 25,455,785 (GRCm39) |
S840N |
probably benign |
Het |
Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
Or8i2 |
G |
A |
2: 86,852,054 (GRCm39) |
T278I |
probably benign |
Het |
Pah |
A |
G |
10: 87,357,866 (GRCm39) |
|
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,284,917 (GRCm39) |
S794T |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,990 (GRCm39) |
H108R |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,011,139 (GRCm39) |
|
probably null |
Het |
Prkd1 |
A |
T |
12: 50,466,667 (GRCm39) |
|
probably benign |
Het |
Pwp1 |
C |
T |
10: 85,723,993 (GRCm39) |
P498L |
possibly damaging |
Het |
Rasa4 |
A |
G |
5: 136,131,147 (GRCm39) |
T414A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,486,319 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
A |
G |
19: 48,592,343 (GRCm39) |
N336S |
probably benign |
Het |
Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
Tlr4 |
A |
G |
4: 66,759,553 (GRCm39) |
E782G |
probably benign |
Het |
Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ttl |
T |
C |
2: 128,934,914 (GRCm39) |
V358A |
probably damaging |
Het |
Wdhd1 |
A |
G |
14: 47,481,258 (GRCm39) |
|
probably null |
Het |
Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
Zfp939 |
T |
C |
7: 39,122,792 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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'- CTGTAGCAAAGCCAAGTGTC -3'
(R):5'- TGGCGTGGTGTACAAAGAAC -3'
Sequencing Primer
(F):5'- CTGTAGCAAAGCCAAGTGTCACATG -3'
(R):5'- TGGCGTGGTGTACAAAGAACAAAAG -3'
|
Posted On |
2015-04-02 |