Incidental Mutation 'R6714:Rbm39'
| ID |
529241 |
| 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 |
044832-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155989159-156022158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 156003538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 281
(L281V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029149]
[ENSMUST00000109587]
[ENSMUST00000126992]
[ENSMUST00000142071]
[ENSMUST00000146297]
[ENSMUST00000153514]
[ENSMUST00000155837]
[ENSMUST00000146288]
|
| AlphaFold |
Q8VH51 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029149
AA Change: L281V
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029149
Gene: ENSMUSG00000027620
AA Change: L281V
| 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: L281V
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105216
Gene: ENSMUSG00000027620
AA Change: L281V
| 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 benign
Transcript: ENSMUST00000126992
|
| SMART Domains |
Protein: ENSMUSP00000116950
Gene: ENSMUSG00000027620
| 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 benign
Transcript: ENSMUST00000142071
AA Change: L281V
PolyPhen 2
Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116820
Gene: ENSMUSG00000027620
AA Change: L281V
| 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: L281V
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119298
Gene: ENSMUSG00000027620
AA Change: L281V
| 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 |
probably benign
Transcript: ENSMUST00000148794
|
| SMART Domains |
Protein: ENSMUSP00000117462
Gene: ENSMUSG00000027620
| 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 |
probably benign
Transcript: ENSMUST00000153514
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000150272
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
A |
T |
14: 44,741,639 (GRCm39) |
R127S |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,656,652 (GRCm39) |
M463I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,167,609 (GRCm39) |
I1794V |
possibly damaging |
Het |
| Clspn |
C |
T |
4: 126,459,561 (GRCm39) |
T320M |
probably damaging |
Het |
| Coch |
A |
C |
12: 51,649,520 (GRCm39) |
D277A |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Dnah7c |
A |
T |
1: 46,779,966 (GRCm39) |
I3223F |
probably damaging |
Het |
| E2f6 |
G |
A |
12: 16,869,003 (GRCm39) |
V109I |
probably damaging |
Het |
| Edem2 |
A |
T |
2: 155,570,809 (GRCm39) |
|
probably null |
Het |
| Efcab8 |
A |
G |
2: 153,631,130 (GRCm39) |
K187E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,574,979 (GRCm39) |
N210S |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,809,878 (GRCm39) |
I2066V |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gpc5 |
C |
T |
14: 115,789,715 (GRCm39) |
Q530* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,579,926 (GRCm39) |
I1937K |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,244,302 (GRCm39) |
R269C |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,763,382 (GRCm39) |
|
probably null |
Het |
| Kbtbd4 |
A |
T |
2: 90,736,183 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
T |
C |
2: 101,783,297 (GRCm39) |
T310A |
probably benign |
Het |
| Lrp4 |
G |
A |
2: 91,306,710 (GRCm39) |
S341N |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,005,048 (GRCm39) |
V69A |
possibly damaging |
Het |
| Myh8 |
T |
C |
11: 67,197,775 (GRCm39) |
Y1881H |
probably damaging |
Het |
| Nectin4 |
A |
T |
1: 171,198,218 (GRCm39) |
|
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,400,459 (GRCm39) |
V562L |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,671 (GRCm39) |
I220K |
possibly damaging |
Het |
| Or6c205 |
T |
A |
10: 129,086,809 (GRCm39) |
N135K |
possibly damaging |
Het |
| Pcdhga7 |
T |
A |
18: 37,850,330 (GRCm39) |
V779E |
probably benign |
Het |
| Peg12 |
T |
A |
7: 62,113,317 (GRCm39) |
H260L |
unknown |
Het |
| Qrfpr |
A |
T |
3: 36,234,405 (GRCm39) |
M312K |
possibly damaging |
Het |
| Rbl2 |
T |
A |
8: 91,833,415 (GRCm39) |
I730N |
possibly damaging |
Het |
| Setd1b |
A |
G |
5: 123,295,654 (GRCm39) |
E1074G |
unknown |
Het |
| Sfr1 |
A |
G |
19: 47,723,405 (GRCm39) |
D303G |
probably damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,546,380 (GRCm39) |
V175A |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,715,678 (GRCm39) |
L785Q |
probably damaging |
Het |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spg11 |
T |
C |
2: 121,926,212 (GRCm39) |
I694M |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,644,189 (GRCm39) |
F143L |
probably benign |
Het |
| Trpc1 |
A |
T |
9: 95,605,326 (GRCm39) |
L111Q |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,848,971 (GRCm39) |
V756A |
possibly damaging |
Het |
| Unc93a2 |
T |
G |
17: 7,643,937 (GRCm39) |
E124A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,917,696 (GRCm39) |
I777N |
probably damaging |
Het |
| Zbtb8b |
C |
T |
4: 129,326,776 (GRCm39) |
E97K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,306,897 (GRCm39) |
D41G |
probably damaging |
Het |
| Zfp493 |
A |
T |
13: 67,934,499 (GRCm39) |
S151C |
probably benign |
Het |
| Zfp503 |
T |
C |
14: 22,035,825 (GRCm39) |
T364A |
probably benign |
Het |
| Zfp507 |
T |
C |
7: 35,487,152 (GRCm39) |
K772R |
probably damaging |
Het |
| Zfp804b |
T |
A |
5: 6,819,239 (GRCm39) |
M1275L |
probably benign |
Het |
| Zfp811 |
G |
A |
17: 33,016,736 (GRCm39) |
H434Y |
probably 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 |
|
R5843:Rbm39
|
UTSW |
2 |
156,004,793 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- AGCAGATCCAGGCAGATGTG -3'
(R):5'- AGGCTCTATGTAGGCTCATTACAC -3'
Sequencing Primer
(F):5'- TCCAGGCAGATGTGACAAAGTTAGAC -3'
(R):5'- CAAAACTCTTAACTGAAGGAGT -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation