Incidental Mutation 'PIT4403001:Rbm5'
| ID |
555482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm5
|
| Ensembl Gene |
ENSMUSG00000032580 |
| Gene Name |
RNA binding motif protein 5 |
| Synonyms |
D030069N10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
PIT4403001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107617694-107648228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107637535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 132
(M132T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035199]
[ENSMUST00000182022]
[ENSMUST00000182304]
[ENSMUST00000182371]
[ENSMUST00000182421]
[ENSMUST00000182659]
[ENSMUST00000183248]
[ENSMUST00000192130]
|
| AlphaFold |
Q91YE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035199
AA Change: M132T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035199
Gene: ENSMUSG00000032580
AA Change: M132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
RRM
|
99 |
174 |
5.98e-13 |
SMART |
|
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
|
RRM
|
232 |
311 |
9.5e-7 |
SMART |
|
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
446 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
483 |
506 |
1e-5 |
BLAST |
|
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
647 |
672 |
5.2e0 |
SMART |
|
coiled coil region
|
673 |
707 |
N/A |
INTRINSIC |
|
G_patch
|
741 |
787 |
1.85e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182022
AA Change: M132T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138390
Gene: ENSMUSG00000032580
AA Change: M132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
SCOP:d1h6kx_
|
96 |
137 |
2e-3 |
SMART |
|
Blast:RRM
|
99 |
137 |
3e-20 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182304
AA Change: M132T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138380
Gene: ENSMUSG00000032580
AA Change: M132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
RRM
|
99 |
174 |
5.98e-13 |
SMART |
|
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
|
PDB:2LKZ|A
|
231 |
251 |
5e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000182371
AA Change: M132T
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138119
Gene: ENSMUSG00000032580
AA Change: M132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
SCOP:d1h6kx_
|
96 |
138 |
6e-3 |
SMART |
|
Blast:RRM
|
99 |
136 |
3e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182421
|
| SMART Domains |
Protein: ENSMUSP00000138778
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182659
AA Change: M132T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138379
Gene: ENSMUSG00000032580
AA Change: M132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
RRM
|
99 |
174 |
5.98e-13 |
SMART |
|
ZnF_RBZ
|
183 |
207 |
1.53e-6 |
SMART |
|
RRM
|
232 |
311 |
9.5e-7 |
SMART |
|
low complexity region
|
329 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
446 |
N/A |
INTRINSIC |
|
Blast:RRM_2
|
483 |
506 |
1e-5 |
BLAST |
|
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
581 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
641 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
647 |
672 |
5.2e0 |
SMART |
|
coiled coil region
|
673 |
707 |
N/A |
INTRINSIC |
|
G_patch
|
741 |
787 |
1.85e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183248
|
| SMART Domains |
Protein: ENSMUSP00000138294
Gene: ENSMUSG00000032580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192130
AA Change: M132T
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142194
Gene: ENSMUSG00000032580
AA Change: M132T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
74 |
N/A |
INTRINSIC |
|
SCOP:d1h6kx_
|
96 |
138 |
6e-3 |
SMART |
|
Blast:RRM
|
99 |
136 |
3e-19 |
BLAST |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.5%
- 10x: 84.9%
- 20x: 73.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit male infertility with azoospermia, male germ cell apoptosis, round spermatid arrest and spermatid differentiation arrest. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
T |
C |
3: 138,129,939 (GRCm39) |
V255A |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,983,540 (GRCm39) |
I1608T |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,412,282 (GRCm39) |
D955E |
probably benign |
Het |
| Cacybp |
A |
G |
1: 160,033,764 (GRCm39) |
S113P |
probably damaging |
Het |
| Cenpu |
C |
T |
8: 47,015,564 (GRCm39) |
P160S |
possibly damaging |
Het |
| Clstn3 |
C |
T |
6: 124,434,982 (GRCm39) |
G348D |
probably damaging |
Het |
| Cmtr1 |
T |
G |
17: 29,917,047 (GRCm39) |
|
probably null |
Het |
| Dlgap2 |
T |
C |
8: 14,881,528 (GRCm39) |
S867P |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,831 (GRCm39) |
C1654S |
probably damaging |
Het |
| Fbxl3 |
G |
A |
14: 103,332,900 (GRCm39) |
T26M |
possibly damaging |
Het |
| Garnl3 |
A |
T |
2: 32,880,770 (GRCm39) |
L874Q |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,256,315 (GRCm39) |
V478A |
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,972,134 (GRCm39) |
I417T |
possibly damaging |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Ighv1-4 |
A |
G |
12: 114,450,824 (GRCm39) |
S95P |
probably damaging |
Het |
| Jak3 |
C |
T |
8: 72,136,993 (GRCm39) |
T723I |
probably benign |
Het |
| Jup |
A |
G |
11: 100,268,913 (GRCm39) |
|
probably null |
Het |
| Kcng3 |
A |
G |
17: 83,895,611 (GRCm39) |
L285S |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,285,114 (GRCm39) |
P593S |
probably damaging |
Het |
| Matcap1 |
T |
C |
8: 106,011,376 (GRCm39) |
N253D |
probably benign |
Het |
| Mstn |
T |
C |
1: 53,100,944 (GRCm39) |
M7T |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,077,533 (GRCm39) |
K889N |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,124,805 (GRCm39) |
T1787A |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,784,099 (GRCm39) |
Q607L |
possibly damaging |
Het |
| Ntf3 |
C |
T |
6: 126,078,789 (GRCm39) |
R239Q |
probably damaging |
Het |
| Nup85 |
G |
T |
11: 115,472,646 (GRCm39) |
R492L |
probably damaging |
Het |
| Ogfod3 |
A |
C |
11: 121,087,561 (GRCm39) |
|
probably null |
Het |
| Or1j18 |
T |
A |
2: 36,624,930 (GRCm39) |
I199K |
probably damaging |
Het |
| Or4c115 |
T |
A |
2: 88,927,420 (GRCm39) |
M284L |
probably benign |
Het |
| Or4k40 |
A |
T |
2: 111,251,165 (GRCm39) |
F44I |
probably benign |
Het |
| Or52h2 |
A |
G |
7: 103,838,667 (GRCm39) |
V249A |
probably benign |
Het |
| Or8d1 |
T |
C |
9: 38,766,676 (GRCm39) |
I106T |
probably benign |
Het |
| Oxct2a |
A |
T |
4: 123,216,237 (GRCm39) |
D381E |
probably damaging |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,082,268 (GRCm39) |
P154S |
probably damaging |
Het |
| Phkg1 |
T |
C |
5: 129,894,772 (GRCm39) |
T260A |
probably benign |
Het |
| Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
| Plekhj1 |
C |
T |
10: 80,632,293 (GRCm39) |
D150N |
unknown |
Het |
| Plppr1 |
T |
G |
4: 49,337,648 (GRCm39) |
N316K |
probably benign |
Het |
| Pola2 |
A |
C |
19: 6,009,074 (GRCm39) |
S95A |
possibly damaging |
Het |
| Polq |
G |
A |
16: 36,880,949 (GRCm39) |
D1038N |
probably benign |
Het |
| Prim1 |
A |
T |
10: 127,858,745 (GRCm39) |
I218L |
probably benign |
Het |
| Prkcz |
A |
G |
4: 155,377,613 (GRCm39) |
|
probably null |
Het |
| Ptgr1 |
T |
C |
4: 58,968,794 (GRCm39) |
K282E |
probably benign |
Het |
| Scn2a |
C |
T |
2: 65,542,252 (GRCm39) |
T785M |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,023,967 (GRCm39) |
E141G |
probably damaging |
Het |
| Slc24a2 |
A |
G |
4: 86,950,523 (GRCm39) |
F425L |
probably benign |
Het |
| Smarcc2 |
A |
T |
10: 128,298,893 (GRCm39) |
H92L |
probably damaging |
Het |
| Tatdn1 |
C |
G |
15: 58,777,596 (GRCm39) |
E220Q |
probably damaging |
Het |
| Tmc7 |
C |
A |
7: 118,146,623 (GRCm39) |
Q488H |
probably benign |
Het |
| Tmc7 |
T |
G |
7: 118,146,624 (GRCm39) |
Q488P |
possibly damaging |
Het |
| Tmem45b |
C |
T |
9: 31,338,188 (GRCm39) |
D264N |
probably benign |
Het |
| Tmtc4 |
A |
C |
14: 123,210,641 (GRCm39) |
S72R |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
| Ubac1 |
A |
T |
2: 25,896,609 (GRCm39) |
M302K |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,597 (GRCm39) |
I30T |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,615,461 (GRCm39) |
N114S |
possibly damaging |
Het |
| Xpo5 |
T |
A |
17: 46,550,495 (GRCm39) |
D992E |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,312,437 (GRCm39) |
P86S |
probably benign |
Het |
| Zfp335 |
T |
C |
2: 164,735,636 (GRCm39) |
H1106R |
possibly damaging |
Het |
| Zfp653 |
T |
A |
9: 21,977,053 (GRCm39) |
Q166L |
probably damaging |
Het |
| Zp3r |
T |
A |
1: 130,510,609 (GRCm39) |
N436I |
possibly damaging |
Het |
|
| Other mutations in Rbm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02041:Rbm5
|
APN |
9 |
107,633,045 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02319:Rbm5
|
APN |
9 |
107,621,064 (GRCm39) |
nonsense |
probably null |
|
|
IGL02567:Rbm5
|
APN |
9 |
107,621,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Rbm5
|
APN |
9 |
107,626,899 (GRCm39) |
splice site |
probably benign |
|
|
IGL02943:Rbm5
|
APN |
9 |
107,621,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02959:Rbm5
|
APN |
9 |
107,631,384 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03029:Rbm5
|
APN |
9 |
107,631,652 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0001:Rbm5
|
UTSW |
9 |
107,619,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Rbm5
|
UTSW |
9 |
107,628,907 (GRCm39) |
splice site |
probably benign |
|
|
R1170:Rbm5
|
UTSW |
9 |
107,619,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1239:Rbm5
|
UTSW |
9 |
107,630,165 (GRCm39) |
unclassified |
probably benign |
|
|
R1297:Rbm5
|
UTSW |
9 |
107,621,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Rbm5
|
UTSW |
9 |
107,621,112 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1764:Rbm5
|
UTSW |
9 |
107,644,763 (GRCm39) |
nonsense |
probably null |
|
|
R1826:Rbm5
|
UTSW |
9 |
107,619,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1863:Rbm5
|
UTSW |
9 |
107,627,718 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4112:Rbm5
|
UTSW |
9 |
107,642,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4207:Rbm5
|
UTSW |
9 |
107,627,682 (GRCm39) |
missense |
probably benign |
|
|
R4343:Rbm5
|
UTSW |
9 |
107,629,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4441:Rbm5
|
UTSW |
9 |
107,626,887 (GRCm39) |
intron |
probably benign |
|
|
R4621:Rbm5
|
UTSW |
9 |
107,631,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Rbm5
|
UTSW |
9 |
107,622,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Rbm5
|
UTSW |
9 |
107,637,511 (GRCm39) |
splice site |
probably benign |
|
|
R5404:Rbm5
|
UTSW |
9 |
107,642,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5876:Rbm5
|
UTSW |
9 |
107,637,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Rbm5
|
UTSW |
9 |
107,629,339 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5983:Rbm5
|
UTSW |
9 |
107,622,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5984:Rbm5
|
UTSW |
9 |
107,622,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Rbm5
|
UTSW |
9 |
107,627,593 (GRCm39) |
splice site |
probably null |
|
|
R7447:Rbm5
|
UTSW |
9 |
107,623,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Rbm5
|
UTSW |
9 |
107,628,930 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9377:Rbm5
|
UTSW |
9 |
107,627,252 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9602:Rbm5
|
UTSW |
9 |
107,629,152 (GRCm39) |
missense |
probably benign |
|
|
R9694:Rbm5
|
UTSW |
9 |
107,622,152 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCTAGCATCGTTTTCAAAGTC -3'
(R):5'- CTGGAGGAAAGTATCTAGGTAGCAC -3'
Sequencing Primer
(F):5'- AGTCATTCATATTCCTTAGCCATGG -3'
(R):5'- GTATAGCCCACTTTGTAGACCAGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation