Incidental Mutation 'R5843:Rbm39'
| ID |
450530 |
| 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 |
043224-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5843 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155989159-156022158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156004793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 181
(D181E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029149]
[ENSMUST00000109587]
[ENSMUST00000126992]
[ENSMUST00000142071]
[ENSMUST00000146297]
[ENSMUST00000155837]
[ENSMUST00000146288]
[ENSMUST00000153514]
|
| AlphaFold |
Q8VH51 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029149
AA Change: D181E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029149
Gene: ENSMUSG00000027620
AA Change: D181E
| 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: D181E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105216
Gene: ENSMUSG00000027620
AA Change: D181E
| 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 |
possibly damaging
Transcript: ENSMUST00000126992
AA Change: D180E
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116950
Gene: ENSMUSG00000027620
AA Change: D180E
| 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 |
noncoding transcript
Transcript: ENSMUST00000138381
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142071
AA Change: D181E
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116820
Gene: ENSMUSG00000027620
AA Change: D181E
| 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: D181E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119298
Gene: ENSMUSG00000027620
AA Change: D181E
| 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: D42E
|
| SMART Domains |
Protein: ENSMUSP00000117462
Gene: ENSMUSG00000027620
AA Change: D42E
| 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: ENSMUST00000150272
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155837
|
| 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: ENSMUST00000153514
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
| Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
| Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
| Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
| Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
| Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
| Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
| Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
| Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,333 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
| Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
| Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
| Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
| Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
| Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
| Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
| Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
| Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
| Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
| Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
| Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
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 |
|
R5125:Rbm39
|
UTSW |
2 |
156,004,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- ACTCACTGATTTGCCATTTGG -3'
(R):5'- CAAATTCAGATCCACTTCTGCC -3'
Sequencing Primer
(F):5'- GTGTTAAGTGGTACAACATCCAGCTC -3'
(R):5'- CATTCTTGCAACTTTGGAGGCAGAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation