Incidental Mutation 'R5124:Rbm39'
| ID |
393434 |
| 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 |
042712-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155989159-156022158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156001082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 324
(G324D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029149]
[ENSMUST00000109587]
[ENSMUST00000126992]
[ENSMUST00000142071]
[ENSMUST00000146297]
[ENSMUST00000153514]
[ENSMUST00000155837]
|
| AlphaFold |
Q8VH51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029149
AA Change: G324D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029149
Gene: ENSMUSG00000027620
AA Change: G324D
| 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 damaging
Transcript: ENSMUST00000109587
AA Change: G324D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105216
Gene: ENSMUSG00000027620
AA Change: G324D
| 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 damaging
Transcript: ENSMUST00000142071
AA Change: G324D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116820
Gene: ENSMUSG00000027620
AA Change: G324D
| 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 |
unknown
Transcript: ENSMUST00000148794
AA Change: G163D
|
| SMART Domains |
Protein: ENSMUSP00000117462
Gene: ENSMUSG00000027620
AA Change: G163D
| 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 damaging
Transcript: ENSMUST00000146297
AA Change: G324D
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119298
Gene: ENSMUSG00000027620
AA Change: G324D
| 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: ENSMUST00000153514
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155837
|
| Meta Mutation Damage Score |
0.7316 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,401,289 (GRCm39) |
I65N |
probably damaging |
Het |
| Adpgk |
A |
G |
9: 59,222,561 (GRCm39) |
D496G |
possibly damaging |
Het |
| Agbl4 |
A |
G |
4: 111,513,525 (GRCm39) |
M424V |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Bpifa3 |
C |
T |
2: 153,980,057 (GRCm39) |
Q230* |
probably null |
Het |
| Cog4 |
G |
T |
8: 111,573,825 (GRCm39) |
R48L |
probably damaging |
Het |
| Cop1 |
A |
G |
1: 159,105,682 (GRCm39) |
Y33C |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,689,665 (GRCm39) |
I454L |
probably benign |
Het |
| Ddr1 |
T |
C |
17: 35,994,489 (GRCm39) |
H762R |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,968,482 (GRCm39) |
S328T |
probably benign |
Het |
| Dppa2 |
G |
T |
16: 48,131,986 (GRCm39) |
V28F |
probably damaging |
Het |
| Dusp15 |
T |
A |
2: 152,793,275 (GRCm39) |
M1L |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,758,301 (GRCm39) |
T1875M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,840,977 (GRCm39) |
S1756P |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,866 (GRCm39) |
Q630L |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,066,512 (GRCm39) |
S625P |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj6 |
G |
T |
16: 94,633,518 (GRCm39) |
P180T |
probably damaging |
Het |
| Lpin3 |
T |
A |
2: 160,738,981 (GRCm39) |
M263K |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,331,834 (GRCm39) |
D1640E |
probably damaging |
Het |
| Lypd2 |
C |
T |
15: 74,604,347 (GRCm39) |
A74T |
probably benign |
Het |
| Map4k1 |
T |
C |
7: 28,688,257 (GRCm39) |
L223P |
probably damaging |
Het |
| Myh7 |
A |
T |
14: 55,223,199 (GRCm39) |
Y715* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,483 (GRCm39) |
S1697P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,171,510 (GRCm39) |
E1661G |
probably damaging |
Het |
| Nek8 |
A |
T |
11: 78,063,765 (GRCm39) |
M80K |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,220,947 (GRCm39) |
L979Q |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,431 (GRCm39) |
V113D |
probably damaging |
Het |
| P4htm |
T |
A |
9: 108,459,141 (GRCm39) |
S264C |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,768 (GRCm39) |
T417A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,406 (GRCm39) |
|
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,893,476 (GRCm39) |
N323I |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,177,274 (GRCm39) |
R222S |
probably damaging |
Het |
| Psmd2 |
C |
A |
16: 20,471,448 (GRCm39) |
R100S |
possibly damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,599 (GRCm39) |
M1963K |
probably damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,105,731 (GRCm39) |
|
probably null |
Het |
| Rhov |
G |
T |
2: 119,101,568 (GRCm39) |
P13T |
unknown |
Het |
| Sec14l3 |
A |
G |
11: 4,025,209 (GRCm39) |
D273G |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,639 (GRCm39) |
R88* |
probably null |
Het |
| Slco2a1 |
T |
A |
9: 102,927,365 (GRCm39) |
I86N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,812,235 (GRCm39) |
S19T |
probably benign |
Het |
| Stk32a |
T |
C |
18: 43,438,082 (GRCm39) |
S194P |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,424 (GRCm39) |
S175L |
possibly damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,858,045 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tshz1 |
C |
T |
18: 84,033,592 (GRCm39) |
R272Q |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,850,115 (GRCm39) |
S375P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,873,636 (GRCm39) |
K73E |
probably damaging |
Het |
| Vmn1r202 |
C |
T |
13: 22,685,920 (GRCm39) |
V166I |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,286 (GRCm39) |
V6A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,107 (GRCm39) |
D111G |
probably damaging |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
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 |
|
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 |
|
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'- CTCACTTCTTAAGGAGTCTGGTG -3'
(R):5'- GTTCCCATGTTCATTAAGATGTCC -3'
Sequencing Primer
(F):5'- GTGTTTCCATATACCAAAATGAGGAC -3'
(R):5'- TCAGCCTGGTCTACAAAGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation