Incidental Mutation 'IGL00574:Rbm10'
| ID |
332676 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm10
|
| Ensembl Gene |
ENSMUSG00000031060 |
| Gene Name |
RNA binding motif protein 10 |
| Synonyms |
E430039K10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.924)
|
| Stock # |
IGL00574
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
20483742-20517140 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 20516932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064911]
[ENSMUST00000082089]
[ENSMUST00000084383]
[ENSMUST00000115374]
[ENSMUST00000115375]
[ENSMUST00000177738]
|
| AlphaFold |
Q99KG3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064911
|
| SMART Domains |
Protein: ENSMUSP00000068188
Gene: ENSMUSG00000031060
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
RRM
|
130 |
205 |
1.99e-9 |
SMART |
|
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
|
RRM
|
301 |
380 |
4.75e-7 |
SMART |
|
low complexity region
|
397 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
759 |
784 |
7.55e-1 |
SMART |
|
coiled coil region
|
785 |
818 |
N/A |
INTRINSIC |
|
G_patch
|
856 |
902 |
8.39e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082089
|
| SMART Domains |
Protein: ENSMUSP00000080738
Gene: ENSMUSG00000031060
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
RRM
|
60 |
128 |
9.2e-2 |
SMART |
|
ZnF_RBZ
|
138 |
162 |
1.2e-8 |
SMART |
|
RRM
|
224 |
303 |
4.75e-7 |
SMART |
|
low complexity region
|
320 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
674 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
682 |
707 |
7.55e-1 |
SMART |
|
coiled coil region
|
708 |
741 |
N/A |
INTRINSIC |
|
G_patch
|
779 |
825 |
8.39e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084383
|
| SMART Domains |
Protein: ENSMUSP00000111031
Gene: ENSMUSG00000031060
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
RRM
|
60 |
128 |
9.2e-2 |
SMART |
|
ZnF_RBZ
|
138 |
162 |
1.2e-8 |
SMART |
|
RRM
|
224 |
303 |
4.75e-7 |
SMART |
|
low complexity region
|
320 |
342 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
674 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
682 |
707 |
7.55e-1 |
SMART |
|
coiled coil region
|
708 |
741 |
N/A |
INTRINSIC |
|
G_patch
|
779 |
825 |
8.39e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115374
|
| SMART Domains |
Protein: ENSMUSP00000111032
Gene: ENSMUSG00000031060
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
RRM
|
130 |
205 |
1.99e-9 |
SMART |
|
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
|
RRM
|
301 |
380 |
4.75e-7 |
SMART |
|
low complexity region
|
397 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
562 |
N/A |
INTRINSIC |
|
low complexity region
|
593 |
605 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
648 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
751 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
759 |
784 |
7.55e-1 |
SMART |
|
coiled coil region
|
785 |
818 |
N/A |
INTRINSIC |
|
G_patch
|
856 |
902 |
8.39e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115375
|
| SMART Domains |
Protein: ENSMUSP00000111033
Gene: ENSMUSG00000031060
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
RRM
|
130 |
205 |
1.99e-9 |
SMART |
|
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
|
RRM
|
301 |
379 |
2.69e-6 |
SMART |
|
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
758 |
783 |
7.55e-1 |
SMART |
|
coiled coil region
|
784 |
817 |
N/A |
INTRINSIC |
|
G_patch
|
855 |
901 |
8.39e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177738
|
| SMART Domains |
Protein: ENSMUSP00000136209
Gene: ENSMUSG00000031060
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
125 |
N/A |
INTRINSIC |
|
RRM
|
130 |
205 |
1.99e-9 |
SMART |
|
ZnF_RBZ
|
215 |
239 |
1.2e-8 |
SMART |
|
RRM
|
301 |
379 |
2.69e-6 |
SMART |
|
low complexity region
|
396 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
539 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
750 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
758 |
783 |
7.55e-1 |
SMART |
|
coiled coil region
|
784 |
817 |
N/A |
INTRINSIC |
|
G_patch
|
855 |
901 |
8.39e-20 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,703,107 (GRCm39) |
L568Q |
probably damaging |
Het |
| Baiap2 |
T |
C |
11: 119,897,234 (GRCm39) |
S530P |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
| Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
| Macrod2 |
T |
G |
2: 140,242,797 (GRCm39) |
M21R |
probably damaging |
Het |
| Mtx3 |
G |
T |
13: 92,984,384 (GRCm39) |
Q188H |
possibly damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
| Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
| Psapl1 |
C |
A |
5: 36,362,975 (GRCm39) |
N522K |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
| Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
| Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
| Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
| Tmem147 |
G |
A |
7: 30,427,858 (GRCm39) |
R66* |
probably null |
Het |
| Tmem150c |
G |
T |
5: 100,240,810 (GRCm39) |
H51N |
probably benign |
Het |
| Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
Het |
|
| Other mutations in Rbm10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Rbm10
|
APN |
X |
20,516,931 (GRCm39) |
unclassified |
probably benign |
|
|
R0374:Rbm10
|
UTSW |
X |
20,503,798 (GRCm39) |
small deletion |
probably benign |
|
|
R0762:Rbm10
|
UTSW |
X |
20,503,903 (GRCm39) |
splice site |
probably benign |
|
|
R0763:Rbm10
|
UTSW |
X |
20,503,903 (GRCm39) |
splice site |
probably benign |
|
|
R1489:Rbm10
|
UTSW |
X |
20,503,903 (GRCm39) |
splice site |
probably benign |
|
|
R1616:Rbm10
|
UTSW |
X |
20,512,230 (GRCm39) |
missense |
probably benign |
|
|
R2255:Rbm10
|
UTSW |
X |
20,501,978 (GRCm39) |
missense |
unknown |
|
|
R2937:Rbm10
|
UTSW |
X |
20,513,934 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2938:Rbm10
|
UTSW |
X |
20,513,934 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Posted On |
2015-08-05 |
Incidental Mutation