Incidental Mutation 'R6289:Rbm6'
| ID |
508303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm6
|
| Ensembl Gene |
ENSMUSG00000032582 |
| Gene Name |
RNA binding motif protein 6 |
| Synonyms |
NY-LU-12, g16, Def-3 |
| MMRRC Submission |
044459-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R6289 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107650758-107750436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107655147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 896
(Y896C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035201]
[ENSMUST00000181986]
[ENSMUST00000183032]
|
| AlphaFold |
S4R1W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035201
AA Change: Y896C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: Y896C
| 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: Y1028C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: Y1028C
| 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
|
| Meta Mutation Damage Score |
0.1000 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
| Arid3c |
G |
A |
4: 41,724,285 (GRCm39) |
|
probably benign |
Het |
| Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
| Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
| Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
| C1s1 |
A |
G |
6: 124,508,135 (GRCm39) |
F618S |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,534,496 (GRCm39) |
V302E |
probably damaging |
Het |
| Ccl2 |
A |
C |
11: 81,927,795 (GRCm39) |
K80Q |
probably benign |
Het |
| Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
| Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
| Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
| Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
| Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,755,852 (GRCm39) |
I586T |
probably benign |
Het |
| H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
| Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
| Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
| Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,750,485 (GRCm39) |
|
probably null |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
| Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,445,671 (GRCm39) |
S58G |
probably benign |
Het |
| Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
possibly damaging |
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 |
|
R2439:Rbm6
|
UTSW |
9 |
107,656,796 (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 |
|
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'- TAGCAGAAGCATTGCAGCC -3'
(R):5'- CCCTTCCACAAGAATGTCAGG -3'
Sequencing Primer
(F):5'- TTGCAGCCAGCCAACCTTC -3'
(R):5'- TCAGGAGTGGGTAGAACTTCCC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation