Incidental Mutation 'R5125:Rbm39'
ID |
393484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm39
|
Ensembl Gene |
ENSMUSG00000027620 |
Gene Name |
RNA binding motif protein 39 |
Synonyms |
1500012C14Rik, 2310040E03Rik, caper, Caper alpha, Rnpc2, B330012G18Rik |
MMRRC Submission |
042713-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5125 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155989159-156022158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 156004785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 184
(M184K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029149]
[ENSMUST00000109587]
[ENSMUST00000126992]
[ENSMUST00000142071]
[ENSMUST00000146297]
[ENSMUST00000146288]
[ENSMUST00000155837]
[ENSMUST00000153514]
|
AlphaFold |
Q8VH51 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029149
AA Change: M184K
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029149 Gene: ENSMUSG00000027620 AA Change: M184K
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
90 |
N/A |
INTRINSIC |
low complexity region
|
117 |
136 |
N/A |
INTRINSIC |
RRM
|
154 |
226 |
2.5e-15 |
SMART |
RRM
|
251 |
324 |
1.39e-31 |
SMART |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
low complexity region
|
397 |
416 |
N/A |
INTRINSIC |
RRM
|
419 |
498 |
9.44e-2 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109587
AA Change: M184K
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105216 Gene: ENSMUSG00000027620 AA Change: M184K
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
90 |
N/A |
INTRINSIC |
low complexity region
|
117 |
136 |
N/A |
INTRINSIC |
RRM
|
154 |
226 |
2.5e-15 |
SMART |
RRM
|
251 |
324 |
1.39e-31 |
SMART |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
low complexity region
|
403 |
422 |
N/A |
INTRINSIC |
RRM
|
425 |
504 |
9.44e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126992
AA Change: M183K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116950 Gene: ENSMUSG00000027620 AA Change: M183K
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
90 |
N/A |
INTRINSIC |
low complexity region
|
117 |
135 |
N/A |
INTRINSIC |
RRM
|
153 |
225 |
2.5e-15 |
SMART |
PDB:2JRS|A
|
239 |
273 |
9e-18 |
PDB |
Blast:RRM
|
250 |
273 |
4e-9 |
BLAST |
SCOP:d1l3ka1
|
250 |
273 |
9e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135274
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142071
AA Change: M184K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116820 Gene: ENSMUSG00000027620 AA Change: M184K
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
90 |
N/A |
INTRINSIC |
low complexity region
|
117 |
136 |
N/A |
INTRINSIC |
RRM
|
154 |
226 |
2.5e-15 |
SMART |
RRM
|
251 |
324 |
1.39e-31 |
SMART |
Pfam:RBM39linker
|
339 |
404 |
3.8e-18 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146297
AA Change: M184K
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119298 Gene: ENSMUSG00000027620 AA Change: M184K
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
90 |
N/A |
INTRINSIC |
low complexity region
|
117 |
136 |
N/A |
INTRINSIC |
RRM
|
154 |
226 |
2.5e-15 |
SMART |
RRM
|
251 |
324 |
1.39e-31 |
SMART |
low complexity region
|
332 |
345 |
N/A |
INTRINSIC |
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
low complexity region
|
397 |
416 |
N/A |
INTRINSIC |
RRM
|
419 |
498 |
9.44e-2 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000148794
AA Change: M45K
|
SMART Domains |
Protein: ENSMUSP00000117462 Gene: ENSMUSG00000027620 AA Change: M45K
Domain | Start | End | E-Value | Type |
RRM
|
16 |
88 |
2.5e-15 |
SMART |
RRM
|
113 |
164 |
2.45e-9 |
SMART |
Pfam:RBM39linker
|
181 |
282 |
6.9e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138381
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150272
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146288
|
SMART Domains |
Protein: ENSMUSP00000114824 Gene: ENSMUSG00000027620
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
114 |
N/A |
INTRINSIC |
PDB:2CQ4|A
|
115 |
156 |
2e-21 |
PDB |
Blast:RRM
|
132 |
156 |
1e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155837
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153514
|
Meta Mutation Damage Score |
0.8661 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
96% (49/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011] PHENOTYPE: Homozygous disruption of this locus results in embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,589,948 (GRCm39) |
F683L |
probably benign |
Het |
Denr |
A |
T |
5: 124,065,144 (GRCm39) |
I166F |
probably damaging |
Het |
Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
Ei24 |
T |
A |
9: 36,693,742 (GRCm39) |
|
probably benign |
Het |
Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
Gm7356 |
T |
C |
17: 14,221,576 (GRCm39) |
D151G |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,186,839 (GRCm39) |
|
probably benign |
Het |
Grin2b |
C |
T |
6: 135,900,297 (GRCm39) |
V195M |
possibly damaging |
Het |
Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,489,379 (GRCm39) |
V4520A |
probably damaging |
Het |
Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
Lmx1a |
C |
T |
1: 167,658,256 (GRCm39) |
S213L |
possibly damaging |
Het |
Ly6g6d |
A |
G |
17: 35,293,418 (GRCm39) |
I8T |
possibly damaging |
Het |
Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
Med12l |
G |
A |
3: 59,174,635 (GRCm39) |
G1851D |
possibly damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,480 (GRCm39) |
I294F |
probably benign |
Het |
Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
P2rx2 |
G |
A |
5: 110,490,517 (GRCm39) |
T66I |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,419,912 (GRCm39) |
E1197G |
probably damaging |
Het |
Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
Reln |
A |
G |
5: 22,118,239 (GRCm39) |
V2935A |
possibly damaging |
Het |
Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
Sh3rf3 |
C |
G |
10: 58,967,012 (GRCm39) |
P785A |
probably benign |
Het |
Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
Slc24a3 |
T |
C |
2: 145,360,767 (GRCm39) |
V120A |
possibly damaging |
Het |
Sost |
C |
T |
11: 101,854,767 (GRCm39) |
G181R |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
Stim2 |
T |
C |
5: 54,267,939 (GRCm39) |
S87P |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
Ugt2b38 |
A |
G |
5: 87,559,671 (GRCm39) |
M407T |
probably damaging |
Het |
Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
Zc3h6 |
A |
G |
2: 128,856,399 (GRCm39) |
H493R |
possibly damaging |
Het |
Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,888,859 (GRCm39) |
V783E |
possibly damaging |
Het |
|
Other mutations in Rbm39 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00656:Rbm39
|
APN |
2 |
156,004,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01473:Rbm39
|
APN |
2 |
156,014,899 (GRCm39) |
nonsense |
probably null |
|
R0040:Rbm39
|
UTSW |
2 |
155,990,099 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1564:Rbm39
|
UTSW |
2 |
155,996,177 (GRCm39) |
missense |
probably benign |
0.01 |
R2888:Rbm39
|
UTSW |
2 |
156,009,503 (GRCm39) |
missense |
probably benign |
0.01 |
R4872:Rbm39
|
UTSW |
2 |
156,019,266 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5124:Rbm39
|
UTSW |
2 |
156,001,082 (GRCm39) |
missense |
probably damaging |
0.99 |
R5843:Rbm39
|
UTSW |
2 |
156,004,793 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6714:Rbm39
|
UTSW |
2 |
156,003,538 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6820:Rbm39
|
UTSW |
2 |
156,021,146 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
R6970:Rbm39
|
UTSW |
2 |
156,009,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R8178:Rbm39
|
UTSW |
2 |
155,996,195 (GRCm39) |
missense |
probably benign |
0.00 |
R8701:Rbm39
|
UTSW |
2 |
156,003,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R8909:Rbm39
|
UTSW |
2 |
156,019,697 (GRCm39) |
intron |
probably benign |
|
R8947:Rbm39
|
UTSW |
2 |
155,990,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R9619:Rbm39
|
UTSW |
2 |
156,001,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACTCACTGATTTGCCATTTGG -3'
(R):5'- GCCTCCTTCAGTGCTTTATTAAAAC -3'
Sequencing Primer
(F):5'- GTGTTAAGTGGTACAACATCCAGCTC -3'
(R):5'- CATTCTTGCAACTTTGGAGGCAGAG -3'
|
Posted On |
2016-06-15 |