Incidental Mutation 'R2439:Rbm6'
| ID |
249734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm6
|
| Ensembl Gene |
ENSMUSG00000032582 |
| Gene Name |
RNA binding motif protein 6 |
| Synonyms |
NY-LU-12, g16, Def-3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R2439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107650758-107750436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107656796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 994
(Y994H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035201]
[ENSMUST00000181986]
[ENSMUST00000183032]
|
| AlphaFold |
S4R1W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035201
AA Change: Y862H
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: Y862H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
4 |
42 |
2.66e-5 |
PROSPERO |
|
low complexity region
|
61 |
87 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
106 |
157 |
2.66e-5 |
PROSPERO |
|
RRM
|
325 |
400 |
2.67e-2 |
SMART |
|
Blast:ZnF_RBZ
|
406 |
430 |
2e-11 |
BLAST |
|
RRM
|
522 |
601 |
1.32e-1 |
SMART |
|
low complexity region
|
748 |
765 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
818 |
843 |
4.34e0 |
SMART |
|
low complexity region
|
864 |
876 |
N/A |
INTRINSIC |
|
G_patch
|
912 |
958 |
7.87e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181986
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183032
AA Change: Y994H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: Y994H
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
43 |
119 |
2.42e-5 |
PROSPERO |
|
internal_repeat_2
|
46 |
164 |
3.18e-5 |
PROSPERO |
|
internal_repeat_1
|
121 |
189 |
2.42e-5 |
PROSPERO |
|
low complexity region
|
193 |
219 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
224 |
319 |
3.18e-5 |
PROSPERO |
|
RRM
|
457 |
532 |
2.67e-2 |
SMART |
|
Blast:ZnF_RBZ
|
538 |
562 |
2e-9 |
BLAST |
|
RRM
|
654 |
733 |
1.32e-1 |
SMART |
|
low complexity region
|
880 |
897 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
950 |
975 |
4.34e0 |
SMART |
|
low complexity region
|
996 |
1008 |
N/A |
INTRINSIC |
|
G_patch
|
1044 |
1090 |
7.87e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183152
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11b |
C |
A |
3: 35,868,233 (GRCm39) |
T635K |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Btla |
G |
T |
16: 45,059,503 (GRCm39) |
C69F |
probably damaging |
Het |
| Cdh10 |
T |
G |
15: 19,013,484 (GRCm39) |
L695V |
probably damaging |
Het |
| Cfap44 |
C |
T |
16: 44,301,609 (GRCm39) |
|
probably benign |
Het |
| Dock10 |
T |
G |
1: 80,510,149 (GRCm39) |
N1560H |
probably damaging |
Het |
| Ephb6 |
C |
A |
6: 41,595,669 (GRCm39) |
H809Q |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Gdf7 |
A |
G |
12: 8,348,050 (GRCm39) |
S416P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,225,725 (GRCm39) |
M611V |
probably benign |
Het |
| Lypd8l |
A |
G |
11: 58,501,603 (GRCm39) |
C127R |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,994,002 (GRCm39) |
E504G |
probably damaging |
Het |
| Mrps30 |
G |
A |
13: 118,521,808 (GRCm39) |
P231S |
probably damaging |
Het |
| Nr1h3 |
T |
C |
2: 91,020,565 (GRCm39) |
D256G |
probably benign |
Het |
| Pramel5 |
T |
C |
4: 144,000,310 (GRCm39) |
M89V |
probably benign |
Het |
| Psg18 |
T |
C |
7: 18,080,044 (GRCm39) |
T386A |
probably benign |
Het |
| Ptprc |
A |
G |
1: 137,993,890 (GRCm39) |
V1180A |
possibly damaging |
Het |
| Rassf8 |
T |
C |
6: 145,761,060 (GRCm39) |
S129P |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc2a4 |
A |
G |
11: 69,836,451 (GRCm39) |
F222S |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,854 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
G |
14: 123,209,315 (GRCm39) |
N110T |
probably damaging |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Umad1 |
T |
A |
6: 8,427,078 (GRCm39) |
D110E |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,060,891 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rbm6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Rbm6
|
APN |
9 |
107,665,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01647:Rbm6
|
APN |
9 |
107,730,081 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01872:Rbm6
|
APN |
9 |
107,660,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02402:Rbm6
|
APN |
9 |
107,730,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03024:Rbm6
|
APN |
9 |
107,664,567 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03025:Rbm6
|
APN |
9 |
107,651,918 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
FR4737:Rbm6
|
UTSW |
9 |
107,659,954 (GRCm39) |
frame shift |
probably null |
|
|
G1Funyon:Rbm6
|
UTSW |
9 |
107,729,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Rbm6
|
UTSW |
9 |
107,665,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Rbm6
|
UTSW |
9 |
107,724,488 (GRCm39) |
nonsense |
probably null |
|
|
R1666:Rbm6
|
UTSW |
9 |
107,669,055 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1927:Rbm6
|
UTSW |
9 |
107,730,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Rbm6
|
UTSW |
9 |
107,729,390 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2262:Rbm6
|
UTSW |
9 |
107,668,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Rbm6
|
UTSW |
9 |
107,669,197 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2878:Rbm6
|
UTSW |
9 |
107,729,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Rbm6
|
UTSW |
9 |
107,724,446 (GRCm39) |
intron |
probably benign |
|
|
R4783:Rbm6
|
UTSW |
9 |
107,730,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Rbm6
|
UTSW |
9 |
107,664,551 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5205:Rbm6
|
UTSW |
9 |
107,665,542 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5253:Rbm6
|
UTSW |
9 |
107,729,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Rbm6
|
UTSW |
9 |
107,655,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5356:Rbm6
|
UTSW |
9 |
107,729,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6289:Rbm6
|
UTSW |
9 |
107,655,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Rbm6
|
UTSW |
9 |
107,664,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6564:Rbm6
|
UTSW |
9 |
107,710,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6887:Rbm6
|
UTSW |
9 |
107,729,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6978:Rbm6
|
UTSW |
9 |
107,729,774 (GRCm39) |
splice site |
probably null |
|
|
R7139:Rbm6
|
UTSW |
9 |
107,730,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7240:Rbm6
|
UTSW |
9 |
107,730,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Rbm6
|
UTSW |
9 |
107,668,244 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7397:Rbm6
|
UTSW |
9 |
107,729,718 (GRCm39) |
missense |
probably benign |
|
|
R7590:Rbm6
|
UTSW |
9 |
107,668,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7829:Rbm6
|
UTSW |
9 |
107,729,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Rbm6
|
UTSW |
9 |
107,729,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8405:Rbm6
|
UTSW |
9 |
107,730,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8784:Rbm6
|
UTSW |
9 |
107,665,337 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8935:Rbm6
|
UTSW |
9 |
107,677,945 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9036:Rbm6
|
UTSW |
9 |
107,660,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9095:Rbm6
|
UTSW |
9 |
107,669,089 (GRCm39) |
nonsense |
probably null |
|
|
R9227:Rbm6
|
UTSW |
9 |
107,664,498 (GRCm39) |
missense |
probably benign |
|
|
R9276:Rbm6
|
UTSW |
9 |
107,660,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9482:Rbm6
|
UTSW |
9 |
107,669,208 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9656:Rbm6
|
UTSW |
9 |
107,656,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1191:Rbm6
|
UTSW |
9 |
107,655,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTATTTCACACACCCAGAGAGC -3'
(R):5'- GTCATTTAAGAGAGCCAGTCAGAAC -3'
Sequencing Primer
(F):5'- ATACCTGGACTGCAGTTTCAG -3'
(R):5'- GAGCCAGTCAGAACAAAAGTTAC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation