Incidental Mutation 'R9482:Rbm6'
| ID |
716308 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R9482 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107650758-107750436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107669208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 568
(Q568R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035201]
[ENSMUST00000181986]
[ENSMUST00000183032]
[ENSMUST00000195883]
|
| AlphaFold |
S4R1W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035201
AA Change: Q436R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: Q436R
| 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 |
unknown
Transcript: ENSMUST00000181986
AA Change: R39G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183032
AA Change: Q568R
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: Q568R
| 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 |
probably benign
Transcript: ENSMUST00000194436
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195883
AA Change: Q54R
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582
AA Change: Q54R
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_RBZ
|
24 |
48 |
9e-12 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
A |
G |
10: 14,307,423 (GRCm39) |
V793A |
probably benign |
Het |
| Als2 |
G |
T |
1: 59,231,109 (GRCm39) |
P834Q |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,864,335 (GRCm39) |
T45A |
probably benign |
Het |
| Angptl7 |
T |
G |
4: 148,584,575 (GRCm39) |
S58R |
possibly damaging |
Het |
| Atg3 |
A |
G |
16: 44,979,481 (GRCm39) |
T7A |
probably benign |
Het |
| Bpifc |
A |
T |
10: 85,815,118 (GRCm39) |
S283T |
possibly damaging |
Het |
| C2cd2l |
T |
A |
9: 44,227,914 (GRCm39) |
E231V |
probably damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,894,504 (GRCm39) |
V83A |
probably damaging |
Het |
| Chst10 |
T |
C |
1: 38,907,116 (GRCm39) |
E178G |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,143,106 (GRCm39) |
L1236Q |
probably benign |
Het |
| Dleu7 |
T |
C |
14: 62,514,351 (GRCm39) |
*210W |
probably null |
Het |
| Emc1 |
T |
G |
4: 139,088,201 (GRCm39) |
V323G |
probably damaging |
Het |
| Fcrla |
T |
C |
1: 170,745,949 (GRCm39) |
T278A |
probably benign |
Het |
| Flrt3 |
T |
C |
2: 140,503,590 (GRCm39) |
T13A |
probably benign |
Het |
| Galntl6 |
A |
T |
8: 58,310,549 (GRCm39) |
|
probably null |
Het |
| Gen1 |
A |
G |
12: 11,305,186 (GRCm39) |
V203A |
possibly damaging |
Het |
| Gm3149 |
T |
A |
14: 15,698,287 (GRCm39) |
V169E |
probably benign |
Het |
| Hjurp |
CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA |
C |
1: 88,193,996 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,610,281 (GRCm39) |
S1463P |
probably benign |
Het |
| Irag1 |
A |
T |
7: 110,545,259 (GRCm39) |
D12E |
probably benign |
Het |
| Jsrp1 |
A |
T |
10: 80,644,734 (GRCm39) |
I224N |
possibly damaging |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
T |
14: 23,441,033 (GRCm39) |
M591K |
probably benign |
Het |
| Kmt2d |
A |
C |
15: 98,763,046 (GRCm39) |
W268G |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,447,710 (GRCm39) |
S417P |
unknown |
Het |
| Lpin3 |
T |
C |
2: 160,746,416 (GRCm39) |
F692L |
probably damaging |
Het |
| Mycbp |
T |
C |
4: 123,803,880 (GRCm39) |
C130R |
unknown |
Het |
| Myh1 |
T |
C |
11: 67,108,745 (GRCm39) |
I1387T |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,463,066 (GRCm39) |
D1333G |
probably benign |
Het |
| Nedd4l |
G |
T |
18: 65,021,031 (GRCm39) |
|
probably benign |
Het |
| Nucks1 |
A |
G |
1: 131,846,744 (GRCm39) |
N7D |
probably benign |
Het |
| Nup210 |
A |
G |
6: 91,019,608 (GRCm39) |
I991T |
probably damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,953 (GRCm39) |
G39D |
probably damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,434,736 (GRCm39) |
D234G |
probably damaging |
Het |
| Phyh |
C |
T |
2: 4,923,863 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,961,289 (GRCm39) |
T1070I |
probably benign |
Het |
| Prss52 |
C |
T |
14: 64,351,129 (GRCm39) |
L305F |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,708,933 (GRCm39) |
D100G |
probably benign |
Het |
| Rb1 |
A |
C |
14: 73,443,493 (GRCm39) |
M754R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Serf2 |
C |
A |
2: 121,281,205 (GRCm39) |
D40E |
possibly damaging |
Het |
| Serf2 |
T |
C |
2: 121,281,206 (GRCm39) |
S41P |
possibly damaging |
Het |
| Sh2b1 |
AGCTC |
AGCTCAGCCACGGGGACCCGCTC |
7: 126,066,768 (GRCm39) |
|
probably benign |
Het |
| Sympk |
G |
T |
7: 18,771,986 (GRCm39) |
R350L |
possibly damaging |
Het |
| Tab2 |
C |
A |
10: 7,795,124 (GRCm39) |
V379L |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,743,666 (GRCm39) |
T485P |
probably benign |
Het |
| Trmt6 |
T |
C |
2: 132,648,699 (GRCm39) |
T412A |
probably benign |
Het |
| Vgll3 |
A |
G |
16: 65,636,229 (GRCm39) |
T182A |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,084,652 (GRCm39) |
S80P |
probably damaging |
Het |
| Zfp1004 |
C |
A |
2: 150,034,711 (GRCm39) |
T344K |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,291,239 (GRCm39) |
L2122S |
probably 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 |
|
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 |
|
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'- TAAGCCCTTCCCTTCGAGAG -3'
(R):5'- ATGTGTCTGTGTGAGTATAAACCAC -3'
Sequencing Primer
(F):5'- CCTTCCCTTCGAGAGTGAGG -3'
(R):5'- AGAGTGGCAAGCACTCTTTACTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation