Incidental Mutation 'R6820:Rbm39'
| ID |
537554 |
| 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 |
044932-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6820 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155989159-156022158 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 156021146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029149]
[ENSMUST00000109584]
[ENSMUST00000109587]
[ENSMUST00000126992]
[ENSMUST00000137566]
[ENSMUST00000142071]
[ENSMUST00000146288]
[ENSMUST00000146297]
[ENSMUST00000146549]
[ENSMUST00000147098]
[ENSMUST00000152919]
[ENSMUST00000153514]
[ENSMUST00000154677]
[ENSMUST00000155837]
|
| AlphaFold |
Q8VH51 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029149
AA Change: M1K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000029149
Gene: ENSMUSG00000027620
AA Change: M1K
| 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 null
Transcript: ENSMUST00000109584
AA Change: M1K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109587
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000105216
Gene: ENSMUSG00000027620
AA Change: M1K
| 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 null
Transcript: ENSMUST00000126992
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116950
Gene: ENSMUSG00000027620
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000137566
AA Change: M1K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000142071
AA Change: M1K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000116820
Gene: ENSMUSG00000027620
AA Change: M1K
| 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 |
probably null
Transcript: ENSMUST00000146288
AA Change: M1K
|
| SMART Domains |
Protein: ENSMUSP00000114824
Gene: ENSMUSG00000027620
AA Change: M1K
| 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 null
Transcript: ENSMUST00000146297
AA Change: M1K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119298
Gene: ENSMUSG00000027620
AA Change: M1K
| 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 null
Transcript: ENSMUST00000146549
AA Change: M1K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147098
AA Change: M1K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152919
AA Change: M1K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000153514
AA Change: M1K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000154677
AA Change: M1K
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155837
AA Change: M1K
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.9748 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
A |
2: 93,673,266 (GRCm39) |
N141Y |
probably null |
Het |
| Chkb |
A |
G |
15: 89,312,379 (GRCm39) |
L46P |
probably damaging |
Het |
| Col9a3 |
G |
A |
2: 180,248,927 (GRCm39) |
V260M |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,800,683 (GRCm39) |
I739T |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,959,826 (GRCm39) |
H2620R |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,787,547 (GRCm39) |
V996A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,250,337 (GRCm39) |
L1757S |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,286,387 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
T |
13: 49,034,468 (GRCm39) |
V1048E |
possibly damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,311,079 (GRCm39) |
T377S |
probably benign |
Het |
| Fbxw28 |
A |
T |
9: 109,167,493 (GRCm39) |
F88Y |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,328,954 (GRCm39) |
T92A |
probably benign |
Het |
| Hoxc13 |
A |
G |
15: 102,830,257 (GRCm39) |
Y212C |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,909 (GRCm39) |
I742V |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,174,965 (GRCm39) |
T351A |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,294,497 (GRCm39) |
D1233G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,982,756 (GRCm39) |
D1525G |
probably damaging |
Het |
| Nme5 |
T |
C |
18: 34,704,626 (GRCm39) |
Y73C |
probably damaging |
Het |
| Nr3c2 |
T |
C |
8: 77,969,086 (GRCm39) |
V957A |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,459 (GRCm39) |
S301P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,942,019 (GRCm39) |
D5013G |
probably damaging |
Het |
| Or4f54 |
C |
T |
2: 111,123,455 (GRCm39) |
P281S |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,298 (GRCm39) |
V214A |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,771 (GRCm39) |
V297A |
possibly damaging |
Het |
| Pak1 |
A |
G |
7: 97,535,586 (GRCm39) |
N226D |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pkp3 |
T |
C |
7: 140,659,757 (GRCm39) |
|
probably null |
Het |
| Prxl2b |
A |
T |
4: 154,982,623 (GRCm39) |
D50E |
probably damaging |
Het |
| Psd |
G |
T |
19: 46,309,283 (GRCm39) |
A558E |
probably damaging |
Het |
| Psmd14 |
C |
A |
2: 61,607,068 (GRCm39) |
H172N |
probably benign |
Het |
| Pygb |
G |
T |
2: 150,658,674 (GRCm39) |
W366L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,339,664 (GRCm39) |
I3421T |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,932,790 (GRCm39) |
V88A |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,762,504 (GRCm39) |
E80G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,583 (GRCm39) |
V243A |
probably damaging |
Het |
| Tmem215 |
T |
C |
4: 40,473,926 (GRCm39) |
M1T |
probably null |
Het |
| Tpm2 |
A |
G |
4: 43,518,443 (GRCm39) |
Y221H |
probably damaging |
Het |
| Ubap1 |
C |
T |
4: 41,379,854 (GRCm39) |
P356L |
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,197,996 (GRCm39) |
A178S |
possibly damaging |
Het |
| Wdr54 |
A |
T |
6: 83,131,601 (GRCm39) |
S139T |
probably benign |
Het |
| Wipi2 |
G |
C |
5: 142,615,555 (GRCm39) |
Q14H |
probably benign |
Het |
| Zan |
T |
C |
5: 137,406,106 (GRCm39) |
|
probably benign |
Het |
| Zfp735 |
A |
G |
11: 73,579,783 (GRCm39) |
M1V |
probably null |
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 |
|
R6714:Rbm39
|
UTSW |
2 |
156,003,538 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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'- CACGTATTGCATCTCTGATAAGG -3'
(R):5'- AATTCGACCTGGAGTCCTGC -3'
Sequencing Primer
(F):5'- CTCTGATAAGGTAATCAAGAGGGCTC -3'
(R):5'- AACGTGACACTTGGCGTAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation