Incidental Mutation 'R2907:Rbm26'
ID |
261708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm26
|
Ensembl Gene |
ENSMUSG00000022119 |
Gene Name |
RNA binding motif protein 26 |
Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
MMRRC Submission |
040494-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.585)
|
Stock # |
R2907 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
105344187-105414763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105380270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 516
(T516S)
|
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 benign
Transcript: ENSMUST00000022715
AA Change: T516S
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000022715 Gene: ENSMUSG00000022119 AA Change: T516S
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 benign
Transcript: ENSMUST00000100327
AA Change: T516S
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000097901 Gene: ENSMUSG00000022119 AA Change: T516S
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 benign
Transcript: ENSMUST00000163499
AA Change: T521S
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000128197 Gene: ENSMUSG00000022119 AA Change: T521S
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 benign
Transcript: ENSMUST00000163545
AA Change: T521S
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000126414 Gene: ENSMUSG00000022119 AA Change: T521S
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 |
0.0582 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
97% (37/38) |
Allele List at MGI |
All alleles(33) : Gene trapped(33) |
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
G |
5: 137,565,559 (GRCm39) |
E385G |
probably damaging |
Het |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,123,580 (GRCm39) |
P452L |
possibly damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Asns |
A |
G |
6: 7,675,506 (GRCm39) |
S499P |
probably benign |
Het |
Aspn |
G |
T |
13: 49,705,374 (GRCm39) |
V79F |
probably damaging |
Het |
Astn2 |
A |
G |
4: 65,563,093 (GRCm39) |
I844T |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,786,869 (GRCm39) |
R641W |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,874,449 (GRCm39) |
I612F |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
H2-T3 |
G |
A |
17: 36,498,347 (GRCm39) |
R233C |
possibly damaging |
Het |
Igfbp4 |
A |
G |
11: 98,932,377 (GRCm39) |
|
probably benign |
Het |
Igkv16-104 |
T |
C |
6: 68,402,911 (GRCm39) |
I68T |
probably damaging |
Het |
Kansl1 |
T |
A |
11: 104,315,286 (GRCm39) |
S251C |
possibly damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Mcpt1 |
T |
C |
14: 56,257,580 (GRCm39) |
V242A |
probably damaging |
Het |
Nek10 |
C |
A |
14: 14,980,613 (GRCm38) |
Q990K |
possibly damaging |
Het |
Nlrp4d |
A |
T |
7: 10,112,354 (GRCm39) |
V605E |
probably benign |
Het |
Or10w1 |
C |
T |
19: 13,632,611 (GRCm39) |
P268S |
possibly damaging |
Het |
Or5an1b |
T |
C |
19: 12,300,032 (GRCm39) |
D53G |
probably damaging |
Het |
Or5d46 |
T |
C |
2: 88,170,827 (GRCm39) |
I306T |
probably benign |
Het |
Osbpl1a |
A |
G |
18: 13,004,129 (GRCm39) |
|
probably benign |
Het |
Otud4 |
T |
A |
8: 80,399,697 (GRCm39) |
S803T |
probably benign |
Het |
Pax9 |
C |
T |
12: 56,756,529 (GRCm39) |
T289I |
probably benign |
Het |
Pcdha5 |
A |
C |
18: 37,093,868 (GRCm39) |
I126L |
possibly damaging |
Het |
Psmd4 |
G |
T |
3: 94,941,273 (GRCm39) |
A55E |
probably damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Sdr42e1 |
G |
A |
8: 118,389,511 (GRCm39) |
L377F |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,234,512 (GRCm39) |
|
probably benign |
Het |
Uba3 |
T |
C |
6: 97,180,514 (GRCm39) |
E21G |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Zfp113 |
T |
C |
5: 138,143,219 (GRCm39) |
N344D |
probably benign |
Het |
Zfp738 |
T |
C |
13: 67,818,231 (GRCm39) |
I587V |
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 |
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 |
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'- GCTAACGCAATGTCCAACTTCC -3'
(R):5'- GCCAACACTACTAATTTGGAAACTG -3'
Sequencing Primer
(F):5'- ACTTTGTAGAACAGGCTGACCTCG -3'
(R):5'- CTTCCAGTTTTGGGGAGAA -3'
|
Posted On |
2015-01-23 |