Incidental Mutation 'R7240:Rbm6'
| ID |
563150 |
| 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 |
045347-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R7240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
107650758-107750436 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107730095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 184
(D184E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035201]
[ENSMUST00000181986]
[ENSMUST00000183032]
[ENSMUST00000183035]
[ENSMUST00000195866]
[ENSMUST00000195883]
|
| AlphaFold |
S4R1W5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035201
AA Change: D52E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035201
Gene: ENSMUSG00000032582
AA Change: D52E
| 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: D184E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138400
Gene: ENSMUSG00000032582
AA Change: D184E
| 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: ENSMUST00000183035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195866
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195883
|
| SMART Domains |
Protein: ENSMUSP00000141953
Gene: ENSMUSG00000032582
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ZnF_RBZ
|
24 |
48 |
9e-12 |
BLAST |
|
| Meta Mutation Damage Score |
0.1221 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210017I01Rik |
A |
G |
3: 92,512,382 (GRCm39) |
I59T |
unknown |
Het |
| Aspm |
C |
T |
1: 139,406,389 (GRCm39) |
Q1759* |
probably null |
Het |
| Atn1 |
A |
T |
6: 124,724,861 (GRCm39) |
I124K |
unknown |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,911,198 (GRCm39) |
V879M |
probably benign |
Het |
| Cd300c |
A |
G |
11: 114,850,609 (GRCm39) |
C65R |
possibly damaging |
Het |
| Cd69 |
A |
T |
6: 129,247,005 (GRCm39) |
S112T |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,821,137 (GRCm39) |
T534A |
probably benign |
Het |
| Cdk5rap2 |
T |
A |
4: 70,210,145 (GRCm39) |
D701V |
probably damaging |
Het |
| D130052B06Rik |
A |
G |
11: 33,573,874 (GRCm39) |
H157R |
possibly damaging |
Het |
| Dpf1 |
T |
A |
7: 29,011,052 (GRCm39) |
F150L |
probably benign |
Het |
| Dsg1c |
T |
C |
18: 20,416,166 (GRCm39) |
L689P |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,381,861 (GRCm39) |
M538I |
probably benign |
Het |
| E4f1 |
T |
A |
17: 24,663,299 (GRCm39) |
I669F |
probably damaging |
Het |
| Gm7138 |
T |
C |
10: 77,612,589 (GRCm39) |
T64A |
unknown |
Het |
| Gnai2 |
A |
C |
9: 107,492,972 (GRCm39) |
D310E |
|
Het |
| Iqca1 |
A |
G |
1: 89,998,272 (GRCm39) |
V567A |
possibly damaging |
Het |
| Iqgap1 |
A |
T |
7: 80,409,587 (GRCm39) |
N249K |
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,110,396 (GRCm39) |
V1093A |
possibly damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,582 (GRCm39) |
K188E |
probably damaging |
Het |
| N4bp2 |
T |
A |
5: 65,951,888 (GRCm39) |
V431D |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,795,445 (GRCm39) |
T792A |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,581,603 (GRCm39) |
H592R |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,362,317 (GRCm39) |
C202R |
probably benign |
Het |
| Or10j2 |
T |
C |
1: 173,098,561 (GRCm39) |
I273T |
probably benign |
Het |
| Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,395 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,022,140 (GRCm39) |
M121V |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,009 (GRCm39) |
D70G |
probably benign |
Het |
| Or8g24 |
A |
T |
9: 38,989,906 (GRCm39) |
M45K |
probably damaging |
Het |
| Parpbp |
G |
A |
10: 87,960,802 (GRCm39) |
T228I |
probably damaging |
Het |
| Pcdhgb8 |
G |
A |
18: 37,896,756 (GRCm39) |
V609M |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,100,830 (GRCm39) |
N543S |
probably damaging |
Het |
| Puf60 |
A |
G |
15: 75,944,388 (GRCm39) |
|
probably benign |
Het |
| Rnase9 |
A |
C |
14: 51,276,436 (GRCm39) |
S181A |
probably benign |
Het |
| Rnpc3 |
T |
A |
3: 113,410,480 (GRCm39) |
R270S |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,322,374 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,386 (GRCm39) |
D1373E |
possibly damaging |
Het |
| Serpina3k |
T |
G |
12: 104,306,861 (GRCm39) |
I31S |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,196,599 (GRCm39) |
F712L |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,138,875 (GRCm39) |
V529A |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,696,239 (GRCm39) |
N58S |
probably benign |
Het |
| Tmc2 |
C |
T |
2: 130,076,724 (GRCm39) |
T350I |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,455,544 (GRCm39) |
C28R |
probably benign |
Het |
| Trbv21 |
A |
T |
6: 41,179,892 (GRCm39) |
K69N |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,771,710 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,679,334 (GRCm39) |
V10796A |
unknown |
Het |
| Ush2a |
A |
G |
1: 188,643,858 (GRCm39) |
T4407A |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,225 (GRCm39) |
H726R |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,021,383 (GRCm39) |
S80P |
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 |
|
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 |
|
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'- GATCAGTAGTAGCTGAACCTCGG -3'
(R):5'- CAGTTGGACTTCAGGAACAGG -3'
Sequencing Primer
(F):5'- GGCCTCTAAAGTCCACCTGTG -3'
(R):5'- CTTCAGGAACAGGGACATACATTCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation