Incidental Mutation 'R3034:Rbm26'
| ID |
264797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm26
|
| Ensembl Gene |
ENSMUSG00000022119 |
| Gene Name |
RNA binding motif protein 26 |
| Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
| MMRRC Submission |
040550-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.585)
|
| Stock # |
R3034 (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 105390881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 202
(T202S)
|
| 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 |
unknown
Transcript: ENSMUST00000022715
AA Change: T202S
|
| SMART Domains |
Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: T202S
| 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 |
unknown
Transcript: ENSMUST00000100327
AA Change: T202S
|
| SMART Domains |
Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: T202S
| 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 |
unknown
Transcript: ENSMUST00000163499
AA Change: T202S
|
| SMART Domains |
Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: T202S
| 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 |
unknown
Transcript: ENSMUST00000163545
AA Change: T202S
|
| SMART Domains |
Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: T202S
| 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 |
0.0575 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
All alleles(33) : Gene trapped(33) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
T |
C |
11: 70,207,079 (GRCm39) |
I576V |
probably benign |
Het |
| Apol7a |
T |
G |
15: 77,273,923 (GRCm39) |
I180L |
probably benign |
Het |
| Aptx |
T |
C |
4: 40,694,994 (GRCm39) |
N114S |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,113,720 (GRCm39) |
D1297E |
probably damaging |
Het |
| Cd40 |
T |
A |
2: 164,904,235 (GRCm39) |
S65R |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,244,789 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
G |
A |
16: 4,450,155 (GRCm39) |
R565W |
probably damaging |
Het |
| Cpt1a |
C |
T |
19: 3,428,390 (GRCm39) |
T588M |
probably damaging |
Het |
| Defb23 |
A |
G |
2: 152,301,189 (GRCm39) |
S128P |
possibly damaging |
Het |
| Dgki |
G |
A |
6: 37,064,605 (GRCm39) |
H250Y |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,725,807 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,225,129 (GRCm39) |
|
probably null |
Het |
| Gpr137c |
C |
T |
14: 45,457,733 (GRCm39) |
S95L |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,990,746 (GRCm39) |
D692G |
possibly damaging |
Het |
| Krt1 |
C |
A |
15: 101,759,068 (GRCm39) |
R32L |
unknown |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mbl1 |
C |
A |
14: 40,880,790 (GRCm39) |
S226Y |
probably damaging |
Het |
| Mrps28 |
T |
A |
3: 8,988,675 (GRCm39) |
D61V |
probably benign |
Het |
| Mthfd1 |
A |
G |
12: 76,336,244 (GRCm39) |
K299E |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,812,406 (GRCm39) |
Y738H |
possibly damaging |
Het |
| Myo5c |
A |
G |
9: 75,193,859 (GRCm39) |
T1205A |
probably benign |
Het |
| Nfatc2 |
C |
T |
2: 168,376,940 (GRCm39) |
G317S |
probably damaging |
Het |
| Nln |
C |
T |
13: 104,173,947 (GRCm39) |
V525I |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,352,437 (GRCm39) |
E549G |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,957,446 (GRCm39) |
Y259N |
probably damaging |
Het |
| Oas3 |
T |
C |
5: 120,909,121 (GRCm39) |
D275G |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,264,970 (GRCm39) |
D294E |
possibly damaging |
Het |
| Ovch2 |
A |
G |
7: 107,384,699 (GRCm39) |
S473P |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,359,275 (GRCm39) |
Y16F |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,247,553 (GRCm39) |
|
probably null |
Het |
| Pmvk |
T |
C |
3: 89,375,824 (GRCm39) |
V74A |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rheb |
C |
T |
5: 25,008,721 (GRCm39) |
E166K |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,822,332 (GRCm39) |
V39A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,513,152 (GRCm39) |
Y1168C |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,611 (GRCm39) |
I139T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,274 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,330,901 (GRCm39) |
S13T |
possibly damaging |
Het |
| Tmem62 |
C |
T |
2: 120,809,605 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,341,912 (GRCm39) |
D790G |
probably damaging |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,219 (GRCm39) |
K152R |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,343,364 (GRCm39) |
A581E |
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 |
|
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'- CATTCACAGAATGCAAGAGGAC -3'
(R):5'- TTTTAGAAGCCGTGATGAGAGG -3'
Sequencing Primer
(F):5'- GAGGACCATGTCTTTAATCCCAG -3'
(R):5'- ATGATCGAAACCCTCCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation