Incidental Mutation 'R0654:Rbm28'
| ID |
62429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm28
|
| Ensembl Gene |
ENSMUSG00000029701 |
| Gene Name |
RNA binding motif protein 28 |
| Synonyms |
2810480G15Rik |
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
94 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29123572-29164975 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29128577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 48
(S48R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127856
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007993]
[ENSMUST00000164563]
|
| AlphaFold |
Q8CGC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007993
AA Change: S622R
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000007993
Gene: ENSMUSG00000029701
AA Change: S622R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
5 |
76 |
3.51e-19 |
SMART |
|
low complexity region
|
99 |
114 |
N/A |
INTRINSIC |
|
RRM
|
115 |
187 |
4.52e-22 |
SMART |
|
low complexity region
|
225 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
306 |
N/A |
INTRINSIC |
|
RRM
|
326 |
405 |
1.85e-18 |
SMART |
|
RRM
|
478 |
566 |
5.46e-7 |
SMART |
|
low complexity region
|
707 |
720 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164563
AA Change: S48R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127856
Gene: ENSMUSG00000029701
AA Change: S48R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
108 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169214
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Nphs2 |
A |
C |
1: 156,146,317 (GRCm39) |
T98P |
probably damaging |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
Het |
|
| Other mutations in Rbm28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01929:Rbm28
|
APN |
6 |
29,128,584 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02097:Rbm28
|
APN |
6 |
29,138,617 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02814:Rbm28
|
APN |
6 |
29,159,725 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03212:Rbm28
|
APN |
6 |
29,131,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Rbm28
|
UTSW |
6 |
29,127,802 (GRCm39) |
missense |
probably benign |
|
|
R0106:Rbm28
|
UTSW |
6 |
29,127,802 (GRCm39) |
missense |
probably benign |
|
|
R0109:Rbm28
|
UTSW |
6 |
29,160,104 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0376:Rbm28
|
UTSW |
6 |
29,158,927 (GRCm39) |
splice site |
probably benign |
|
|
R0884:Rbm28
|
UTSW |
6 |
29,155,153 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1255:Rbm28
|
UTSW |
6 |
29,158,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1367:Rbm28
|
UTSW |
6 |
29,137,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Rbm28
|
UTSW |
6 |
29,155,016 (GRCm39) |
splice site |
probably benign |
|
|
R2277:Rbm28
|
UTSW |
6 |
29,135,513 (GRCm39) |
splice site |
probably null |
|
|
R3917:Rbm28
|
UTSW |
6 |
29,154,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4033:Rbm28
|
UTSW |
6 |
29,159,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4421:Rbm28
|
UTSW |
6 |
29,154,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Rbm28
|
UTSW |
6 |
29,143,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4740:Rbm28
|
UTSW |
6 |
29,125,353 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4952:Rbm28
|
UTSW |
6 |
29,138,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:Rbm28
|
UTSW |
6 |
29,128,558 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5652:Rbm28
|
UTSW |
6 |
29,135,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6578:Rbm28
|
UTSW |
6 |
29,137,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Rbm28
|
UTSW |
6 |
29,158,879 (GRCm39) |
missense |
probably benign |
|
|
R7770:Rbm28
|
UTSW |
6 |
29,164,627 (GRCm39) |
unclassified |
probably benign |
|
|
R8817:Rbm28
|
UTSW |
6 |
29,155,023 (GRCm39) |
splice site |
probably benign |
|
|
R8861:Rbm28
|
UTSW |
6 |
29,152,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Rbm28
|
UTSW |
6 |
29,128,674 (GRCm39) |
missense |
probably benign |
|
|
RF056:Rbm28
|
UTSW |
6 |
29,157,052 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Rbm28
|
UTSW |
6 |
29,128,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGAGCACACTACCCCTTTTGTC -3'
(R):5'- TGAACATTGGGCTACTGCTTGCTG -3'
Sequencing Primer
(F):5'- TGTCCTCCCAAATGCAGC -3'
(R):5'- CTGTGTCACTAGACAGCTTGAAAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation