Incidental Mutation 'R5960:Rbm26'
ID |
471432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm26
|
Ensembl Gene |
ENSMUSG00000022119 |
Gene Name |
RNA binding motif protein 26 |
Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
MMRRC Submission |
044147-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.585)
|
Stock # |
R5960 (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 105387751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 457
(V457D)
|
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: V452D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022715 Gene: ENSMUSG00000022119 AA Change: V452D
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: V452D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097901 Gene: ENSMUSG00000022119 AA Change: V452D
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: V457D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128197 Gene: ENSMUSG00000022119 AA Change: V457D
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: V457D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126414 Gene: ENSMUSG00000022119 AA Change: V457D
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
Validation Efficiency |
99% (71/72) |
Allele List at MGI |
All alleles(33) : Gene trapped(33) |
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,889,528 (GRCm39) |
T30A |
possibly damaging |
Het |
Adat1 |
T |
C |
8: 112,709,233 (GRCm39) |
M197V |
probably benign |
Het |
Alcam |
T |
C |
16: 52,115,489 (GRCm39) |
T210A |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,648,178 (GRCm39) |
S886R |
possibly damaging |
Het |
Aopep |
G |
A |
13: 63,388,087 (GRCm39) |
R22Q |
probably damaging |
Het |
Atg2a |
T |
G |
19: 6,304,390 (GRCm39) |
F1136V |
probably damaging |
Het |
Birc6 |
A |
T |
17: 74,835,760 (GRCm39) |
T72S |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,717,869 (GRCm39) |
T219A |
probably benign |
Het |
Catsperg1 |
A |
G |
7: 28,884,208 (GRCm39) |
|
probably benign |
Het |
Cdh12 |
A |
G |
15: 21,492,562 (GRCm39) |
|
probably null |
Het |
Cfap126 |
A |
G |
1: 170,952,882 (GRCm39) |
D45G |
probably damaging |
Het |
Ciz1 |
C |
A |
2: 32,261,228 (GRCm39) |
Q356K |
possibly damaging |
Het |
Ckmt1 |
T |
A |
2: 121,194,058 (GRCm39) |
I407N |
probably damaging |
Het |
Csmd1 |
C |
T |
8: 16,121,430 (GRCm39) |
E1756K |
possibly damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,411,404 (GRCm39) |
K94E |
probably benign |
Het |
Cyth1 |
A |
G |
11: 118,023,193 (GRCm39) |
|
probably benign |
Het |
Ddx25 |
A |
G |
9: 35,465,807 (GRCm39) |
|
probably null |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock3 |
C |
A |
9: 106,788,554 (GRCm39) |
G138* |
probably null |
Het |
Fam20a |
G |
A |
11: 109,566,795 (GRCm39) |
|
probably benign |
Het |
Fanci |
A |
G |
7: 79,093,510 (GRCm39) |
T1006A |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,486,405 (GRCm39) |
Y3320H |
probably damaging |
Het |
Fndc8 |
A |
G |
11: 82,788,398 (GRCm39) |
D76G |
probably benign |
Het |
Gm19965 |
T |
C |
1: 116,749,201 (GRCm39) |
I294T |
possibly damaging |
Het |
Gm9755 |
T |
G |
8: 67,967,840 (GRCm39) |
|
noncoding transcript |
Het |
Iars1 |
T |
C |
13: 49,878,113 (GRCm39) |
V879A |
possibly damaging |
Het |
Ifi209 |
A |
T |
1: 173,466,382 (GRCm39) |
|
probably null |
Het |
Itgb2l |
T |
C |
16: 96,227,459 (GRCm39) |
H528R |
probably benign |
Het |
Marf1 |
T |
C |
16: 13,970,281 (GRCm39) |
Q146R |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,567,731 (GRCm39) |
T407A |
probably benign |
Het |
Mtg1 |
T |
C |
7: 139,726,906 (GRCm39) |
|
probably benign |
Het |
Nhsl1 |
T |
G |
10: 18,402,724 (GRCm39) |
S1317A |
probably benign |
Het |
Nhsl3 |
A |
G |
4: 129,115,865 (GRCm39) |
V933A |
probably damaging |
Het |
Nudt16 |
A |
T |
9: 105,008,698 (GRCm39) |
C63S |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,625,915 (GRCm39) |
I49V |
probably null |
Het |
Or51a24 |
G |
T |
7: 103,733,560 (GRCm39) |
N242K |
probably damaging |
Het |
Or5m13 |
T |
A |
2: 85,749,069 (GRCm39) |
S267T |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,463,495 (GRCm39) |
S671P |
possibly damaging |
Het |
Paox |
A |
G |
7: 139,712,402 (GRCm39) |
D211G |
probably benign |
Het |
Pck2 |
A |
G |
14: 55,786,004 (GRCm39) |
T571A |
possibly damaging |
Het |
Pigg |
A |
G |
5: 108,484,160 (GRCm39) |
E469G |
probably benign |
Het |
Pikfyve |
C |
A |
1: 65,292,597 (GRCm39) |
Y1349* |
probably null |
Het |
Prickle2 |
A |
G |
6: 92,353,286 (GRCm39) |
F783L |
probably benign |
Het |
Prpf40b |
G |
T |
15: 99,212,785 (GRCm39) |
R627L |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,903,437 (GRCm39) |
I1217V |
possibly damaging |
Het |
Rex1bd |
C |
A |
8: 70,959,156 (GRCm39) |
R49L |
probably null |
Het |
Robo2 |
A |
T |
16: 73,730,603 (GRCm39) |
L1003Q |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,446,144 (GRCm39) |
D2730G |
probably benign |
Het |
Setd6 |
T |
A |
8: 96,442,827 (GRCm39) |
L88H |
probably damaging |
Het |
Smim35 |
T |
C |
9: 45,154,288 (GRCm39) |
Y50H |
probably damaging |
Het |
Sncb |
A |
G |
13: 54,910,795 (GRCm39) |
|
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,722,225 (GRCm39) |
H985L |
probably benign |
Het |
Spmap2 |
T |
G |
10: 79,421,765 (GRCm39) |
K151T |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,530,442 (GRCm39) |
E2233G |
probably benign |
Het |
Susd2 |
C |
T |
10: 75,475,770 (GRCm39) |
V410I |
probably damaging |
Het |
Synm |
A |
G |
7: 67,385,494 (GRCm39) |
S281P |
probably damaging |
Het |
Syvn1 |
C |
T |
19: 6,100,598 (GRCm39) |
R330C |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,488,915 (GRCm39) |
D741V |
probably benign |
Het |
Tph1 |
A |
G |
7: 46,311,429 (GRCm39) |
|
probably null |
Het |
Trav7-5 |
T |
A |
14: 53,768,706 (GRCm39) |
H91Q |
probably benign |
Het |
Tymp |
A |
T |
15: 89,260,778 (GRCm39) |
|
probably null |
Het |
Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
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 |
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 |
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'- CAAGTGAGCAAGATCATCATCCATTC -3'
(R):5'- GTTTTGGAAGACATCGATTGGC -3'
Sequencing Primer
(F):5'- GCAAGATCATCATCCATTCTTAATGC -3'
(R):5'- AAAGTCACCAAGTGGTTTT -3'
|
Posted On |
2017-03-31 |