Incidental Mutation 'R7075:Rbm26'
| ID |
549183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm26
|
| Ensembl Gene |
ENSMUSG00000022119 |
| Gene Name |
RNA binding motif protein 26 |
| Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
| MMRRC Submission |
045170-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.585)
|
| Stock # |
R7075 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
105344187-105414763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105398043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 26
(D26E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097901
(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: D26E
|
| SMART Domains |
Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: D26E
| 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: D26E
|
| SMART Domains |
Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: D26E
| 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: D26E
|
| SMART Domains |
Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: D26E
| 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: D26E
|
| SMART Domains |
Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: D26E
| 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 |
0.3285 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (60/63) |
| 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 |
|---|
| Acyp1 |
A |
T |
12: 85,325,782 (GRCm39) |
H72Q |
unknown |
Het |
| Afmid |
T |
A |
11: 117,726,531 (GRCm39) |
D218E |
probably benign |
Het |
| Ankhd1 |
T |
C |
18: 36,693,042 (GRCm39) |
V1A |
|
Het |
| Atf7ip |
T |
C |
6: 136,573,513 (GRCm39) |
|
probably null |
Het |
| BC024139 |
C |
T |
15: 76,008,599 (GRCm39) |
V326I |
probably benign |
Het |
| Bfsp1 |
T |
A |
2: 143,690,885 (GRCm39) |
Q159L |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,897,370 (GRCm39) |
W125R |
unknown |
Het |
| Cnksr3 |
G |
T |
10: 7,102,931 (GRCm39) |
T147K |
probably benign |
Het |
| Colq |
C |
G |
14: 31,274,866 (GRCm39) |
G101R |
probably damaging |
Het |
| Dlg5 |
G |
T |
14: 24,227,865 (GRCm39) |
T352K |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Ebna1bp2 |
T |
C |
4: 118,479,299 (GRCm39) |
V119A |
probably benign |
Het |
| Eif2ak4 |
C |
T |
2: 118,251,291 (GRCm39) |
Q318* |
probably null |
Het |
| Eif2b1 |
G |
A |
5: 124,709,314 (GRCm39) |
T286M |
probably damaging |
Het |
| Fam53b |
G |
T |
7: 132,361,352 (GRCm39) |
D225E |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,435,421 (GRCm39) |
I354T |
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,948,926 (GRCm39) |
H206R |
probably benign |
Het |
| Gabrg3 |
A |
T |
7: 56,973,444 (GRCm39) |
D74E |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,155,595 (GRCm39) |
V246E |
possibly damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,685,292 (GRCm39) |
R44G |
probably benign |
Het |
| Gm17087 |
T |
C |
17: 8,785,635 (GRCm39) |
M23V |
probably benign |
Het |
| Gpr160 |
A |
T |
3: 30,950,926 (GRCm39) |
I333L |
possibly damaging |
Het |
| Hars1 |
T |
C |
18: 36,905,408 (GRCm39) |
N142S |
possibly damaging |
Het |
| Hmgcll1 |
T |
C |
9: 75,963,834 (GRCm39) |
V97A |
possibly damaging |
Het |
| Itih4 |
T |
G |
14: 30,614,560 (GRCm39) |
V474G |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,466,004 (GRCm39) |
S41T |
probably damaging |
Het |
| Keap1 |
C |
T |
9: 21,142,552 (GRCm39) |
V568I |
probably benign |
Het |
| Kifc5b |
A |
G |
17: 27,144,872 (GRCm39) |
M633V |
probably benign |
Het |
| Lsm4 |
A |
G |
8: 71,130,435 (GRCm39) |
E18G |
probably damaging |
Het |
| Meox1 |
T |
A |
11: 101,784,569 (GRCm39) |
Q88L |
probably damaging |
Het |
| Mettl25 |
T |
C |
10: 105,665,785 (GRCm39) |
N147S |
possibly damaging |
Het |
| Mphosph9 |
A |
C |
5: 124,458,922 (GRCm39) |
W83G |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,459,192 (GRCm39) |
I194T |
probably benign |
Het |
| Or5ak22 |
T |
C |
2: 85,230,544 (GRCm39) |
D111G |
probably damaging |
Het |
| Or7e170 |
T |
A |
9: 19,795,359 (GRCm39) |
M81L |
probably benign |
Het |
| Or8b4 |
T |
C |
9: 37,830,370 (GRCm39) |
V139A |
probably benign |
Het |
| Or8h8 |
T |
G |
2: 86,752,990 (GRCm39) |
K295N |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,505,168 (GRCm39) |
Y109F |
|
Het |
| Otogl |
G |
T |
10: 107,614,790 (GRCm39) |
T1954K |
probably benign |
Het |
| Padi2 |
T |
C |
4: 140,660,528 (GRCm39) |
V336A |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,190,724 (GRCm39) |
Q675* |
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,152,231 (GRCm39) |
E1092G |
probably damaging |
Het |
| Psg21 |
T |
C |
7: 18,388,786 (GRCm39) |
N102S |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,867,508 (GRCm39) |
Q15H |
possibly damaging |
Het |
| Rbp4 |
T |
C |
19: 38,112,509 (GRCm39) |
Y152C |
probably damaging |
Het |
| Recql4 |
A |
G |
15: 76,590,624 (GRCm39) |
V646A |
possibly damaging |
Het |
| Rnf220 |
A |
T |
4: 117,143,079 (GRCm39) |
M63K |
probably benign |
Het |
| Selenok |
T |
C |
14: 29,692,024 (GRCm39) |
S21P |
probably damaging |
Het |
| Senp1 |
A |
G |
15: 97,956,207 (GRCm39) |
V404A |
probably benign |
Het |
| Sh3yl1 |
A |
G |
12: 30,990,165 (GRCm39) |
|
probably null |
Het |
| Snx32 |
A |
G |
19: 5,547,018 (GRCm39) |
L275P |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,770,519 (GRCm39) |
V519A |
possibly damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,802,410 (GRCm39) |
V388E |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,936,065 (GRCm39) |
V1661A |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,714 (GRCm39) |
F350L |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,898,086 (GRCm39) |
I401K |
unknown |
Het |
| Ttn |
T |
C |
2: 76,547,173 (GRCm39) |
E32291G |
probably damaging |
Het |
| Tubgcp5 |
G |
T |
7: 55,479,155 (GRCm39) |
V1002L |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,433,240 (GRCm39) |
T410I |
possibly damaging |
Het |
| Vmn1r1 |
A |
T |
1: 181,985,597 (GRCm39) |
F23I |
probably benign |
Het |
| Vmn2r84 |
T |
A |
10: 130,226,941 (GRCm39) |
Q299L |
probably damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,258,557 (GRCm39) |
E499D |
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 |
|
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 |
|
|
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'- CACTGTCTTAATTAGCTGGTCAC -3'
(R):5'- TCTGAAGGCTGTGCTTTATACAG -3'
Sequencing Primer
(F):5'- AATTAGCTGGTCACTTTCATAGTATG -3'
(R):5'- GTGGTATTATTCTTTCCTGACAAGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation