Incidental Mutation 'RF004:Rbm26'
| ID |
602717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm26
|
| Ensembl Gene |
ENSMUSG00000022119 |
| Gene Name |
RNA binding motif protein 26 |
| Synonyms |
C230097K14Rik, 1700009P03Rik, Pro1777 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.585)
|
| Stock # |
RF004 (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 G
at 105388931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 320
(V320A)
|
| 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 |
probably damaging
Transcript: ENSMUST00000022715
AA Change: V320A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022715
Gene: ENSMUSG00000022119
AA Change: V320A
| 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: V320A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097901
Gene: ENSMUSG00000022119
AA Change: V320A
| 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: V320A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128197
Gene: ENSMUSG00000022119
AA Change: V320A
| 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: V320A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126414
Gene: ENSMUSG00000022119
AA Change: V320A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
All alleles(33) : Gene trapped(33) |
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
T |
A |
19: 21,575,645 (GRCm39) |
H126L |
probably benign |
Het |
| 4930407I10Rik |
A |
T |
15: 81,943,550 (GRCm39) |
Q54L |
possibly damaging |
Het |
| 4930433I11Rik |
AACC |
A |
7: 40,642,479 (GRCm39) |
|
probably benign |
Het |
| Adora2a |
A |
T |
10: 75,168,988 (GRCm39) |
T151S |
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGTCGGCG |
18: 36,693,963 (GRCm39) |
|
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,612,411 (GRCm39) |
K1248E |
possibly damaging |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arl11 |
T |
C |
14: 61,548,304 (GRCm39) |
V38A |
probably damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,561 (GRCm39) |
N726Y |
probably damaging |
Het |
| Bcat1 |
T |
C |
6: 144,953,349 (GRCm39) |
K413R |
probably benign |
Het |
| Cd244a |
C |
G |
1: 171,405,490 (GRCm39) |
Q292E |
probably benign |
Het |
| Chp1 |
T |
A |
2: 119,411,195 (GRCm39) |
D123E |
probably damaging |
Het |
| Cpeb4 |
ACTCT |
ACTCTCT |
11: 31,877,634 (GRCm39) |
|
probably benign |
Het |
| Ddx6 |
A |
G |
9: 44,535,789 (GRCm39) |
T173A |
possibly damaging |
Het |
| Dlg2 |
T |
A |
7: 90,501,885 (GRCm39) |
C66S |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,328,013 (GRCm39) |
Q3370L |
probably benign |
Het |
| Dnmt1 |
GCACAGTTCCTACCTCGTT |
GCACAGTTCCTACCTCGTTTTGGGGGCGGAACACAGTTCCTACCTCGTT |
9: 20,821,423 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
C |
9: 86,436,244 (GRCm39) |
V2420A |
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,118 (GRCm39) |
|
probably benign |
Het |
| Igkv6-25 |
TTGACGGA |
T |
6: 70,192,647 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
G |
A |
7: 80,370,623 (GRCm39) |
A1582V |
probably benign |
Het |
| Lmnb1 |
T |
C |
18: 56,864,046 (GRCm39) |
I217T |
possibly damaging |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,437 (GRCm39) |
|
probably null |
Het |
| Map2k2 |
A |
T |
10: 80,951,002 (GRCm39) |
H149L |
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,390 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nxph2 |
G |
A |
2: 23,290,080 (GRCm39) |
R144Q |
probably damaging |
Het |
| Or2t48 |
CA |
C |
11: 58,419,983 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
T |
TTAG |
7: 102,747,516 (GRCm39) |
|
probably null |
Het |
| Or51f1e |
GTTAT |
GTTATTAT |
7: 102,747,512 (GRCm39) |
|
|
Het |
| Or51f1e |
AT |
ATTCT |
7: 102,747,515 (GRCm39) |
|
probably benign |
Het |
| Or51q1 |
TCC |
TCCC |
7: 103,629,110 (GRCm39) |
|
probably null |
Het |
| Or52n20 |
A |
G |
7: 104,320,248 (GRCm39) |
E113G |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,114 (GRCm39) |
F235L |
probably benign |
Het |
| Padi4 |
A |
T |
4: 140,487,269 (GRCm39) |
V211E |
probably damaging |
Het |
| Prdm10 |
A |
C |
9: 31,270,422 (GRCm39) |
D902A |
probably damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,398 (GRCm39) |
D171G |
probably damaging |
Het |
| Rasal3 |
A |
T |
17: 32,610,081 (GRCm39) |
N1035K |
probably damaging |
Het |
| Rassf6 |
GGTCCTGTAGAGCAATGGGGATTC |
GGTCCTGTAGAGCAATGGGGATTCTGCATCACTCATTGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,778 (GRCm39) |
|
probably benign |
Het |
| S1pr1 |
A |
T |
3: 115,506,536 (GRCm39) |
Y19* |
probably null |
Het |
| Slc22a16 |
A |
C |
10: 40,479,642 (GRCm39) |
L571F |
possibly damaging |
Het |
| Smarca2 |
CAGC |
CAGCCCAAGC |
19: 26,608,420 (GRCm39) |
|
probably benign |
Het |
| Ssx2ip |
A |
T |
3: 146,132,195 (GRCm39) |
K219* |
probably null |
Het |
| Trav15-2-dv6-2 |
AAG |
AAGCAG |
14: 53,887,212 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GAA |
GAATAA |
14: 53,887,211 (GRCm39) |
|
probably null |
Het |
| Tsen15 |
A |
G |
1: 152,259,470 (GRCm39) |
V63A |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Usp54 |
T |
A |
14: 20,611,368 (GRCm39) |
E1149D |
possibly damaging |
Het |
| Vmn2r37 |
A |
T |
7: 9,220,686 (GRCm39) |
S392R |
probably damaging |
Het |
| Wdr97 |
GAGGAGGA |
G |
15: 76,247,373 (GRCm39) |
|
probably null |
Het |
| Zfp663 |
G |
T |
2: 165,200,363 (GRCm39) |
H72Q |
probably benign |
Het |
| Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (GRCm39) |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTATCTTCTGACCTGTGACAG -3'
(R):5'- ACTGAAATCATAGTTGCAGTATGG -3'
Sequencing Primer
(F):5'- CTGTGACAGGTGGCAGACTG -3'
(R):5'- TGAGGCATATTTGCCAAAA -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation