Incidental Mutation 'R3757:Rbm11'
ID |
271500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm11
|
Ensembl Gene |
ENSMUSG00000032940 |
Gene Name |
RNA binding motif protein 11 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
R3757 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
75389796-75399706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75393469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 55
(V55A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109891
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046378]
[ENSMUST00000114249]
[ENSMUST00000114253]
|
AlphaFold |
Q80YT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046378
AA Change: V55A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038956 Gene: ENSMUSG00000032940 AA Change: V55A
Domain | Start | End | E-Value | Type |
RRM
|
11 |
83 |
3.25e-23 |
SMART |
low complexity region
|
210 |
217 |
N/A |
INTRINSIC |
low complexity region
|
228 |
237 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114249
AA Change: V55A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109887 Gene: ENSMUSG00000032940 AA Change: V55A
Domain | Start | End | E-Value | Type |
RRM
|
11 |
83 |
3.25e-23 |
SMART |
low complexity region
|
210 |
217 |
N/A |
INTRINSIC |
low complexity region
|
228 |
237 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114253
AA Change: V55A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109891 Gene: ENSMUSG00000032940 AA Change: V55A
Domain | Start | End | E-Value | Type |
RRM
|
11 |
83 |
3.25e-23 |
SMART |
low complexity region
|
210 |
217 |
N/A |
INTRINSIC |
low complexity region
|
228 |
237 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3661 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
A |
13: 23,806,240 (GRCm39) |
K81* |
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
Other mutations in Rbm11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01732:Rbm11
|
APN |
16 |
75,397,510 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02245:Rbm11
|
APN |
16 |
75,389,896 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL03350:Rbm11
|
APN |
16 |
75,397,696 (GRCm39) |
missense |
probably benign |
0.31 |
R0060:Rbm11
|
UTSW |
16 |
75,395,667 (GRCm39) |
missense |
probably damaging |
0.98 |
R0815:Rbm11
|
UTSW |
16 |
75,393,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R1351:Rbm11
|
UTSW |
16 |
75,393,531 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1562:Rbm11
|
UTSW |
16 |
75,393,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Rbm11
|
UTSW |
16 |
75,397,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R1891:Rbm11
|
UTSW |
16 |
75,397,675 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1965:Rbm11
|
UTSW |
16 |
75,395,656 (GRCm39) |
splice site |
probably null |
|
R3928:Rbm11
|
UTSW |
16 |
75,389,932 (GRCm39) |
critical splice donor site |
probably null |
|
R4513:Rbm11
|
UTSW |
16 |
75,393,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R5314:Rbm11
|
UTSW |
16 |
75,393,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5418:Rbm11
|
UTSW |
16 |
75,393,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R5530:Rbm11
|
UTSW |
16 |
75,389,861 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5891:Rbm11
|
UTSW |
16 |
75,395,725 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6293:Rbm11
|
UTSW |
16 |
75,393,655 (GRCm39) |
splice site |
probably null |
|
R7853:Rbm11
|
UTSW |
16 |
75,389,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R8167:Rbm11
|
UTSW |
16 |
75,395,673 (GRCm39) |
missense |
probably benign |
0.01 |
R8356:Rbm11
|
UTSW |
16 |
75,397,694 (GRCm39) |
missense |
probably benign |
|
R9571:Rbm11
|
UTSW |
16 |
75,397,543 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTGGAGCTATTAACGACTGTTC -3'
(R):5'- AGCAATCTGTGGGTGGTAAAC -3'
Sequencing Primer
(F):5'- TCAAGTTTCTTACAGGCTG -3'
(R):5'- GAGAGGTTGAGAACTACTATCCTCC -3'
|
Posted On |
2015-03-18 |