Incidental Mutation 'IGL03024:Rbm6'
ID |
408077 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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: 0.570)
|
Stock # |
IGL03024
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
107650758-107750436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107664567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 689
(S689P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035201
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035201]
[ENSMUST00000181986]
[ENSMUST00000183032]
[ENSMUST00000195883]
|
AlphaFold |
S4R1W5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035201
AA Change: S689P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035201 Gene: ENSMUSG00000032582 AA Change: S689P
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 |
noncoding transcript
Transcript: ENSMUST00000182092
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183032
AA Change: S821P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138400 Gene: ENSMUSG00000032582 AA Change: S821P
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 benign
Transcript: ENSMUST00000195883
|
SMART Domains |
Protein: ENSMUSP00000141953 Gene: ENSMUSG00000032582
Domain | Start | End | E-Value | Type |
Blast:ZnF_RBZ
|
24 |
48 |
9e-12 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,212,464 (GRCm39) |
F257L |
probably benign |
Het |
Aaas |
A |
G |
15: 102,258,926 (GRCm39) |
|
probably benign |
Het |
AI661453 |
C |
T |
17: 47,757,513 (GRCm39) |
R57W |
probably damaging |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Bahd1 |
T |
C |
2: 118,746,597 (GRCm39) |
V72A |
probably damaging |
Het |
Bcl3 |
A |
G |
7: 19,543,059 (GRCm39) |
|
probably benign |
Het |
Blnk |
A |
T |
19: 40,982,445 (GRCm39) |
|
probably benign |
Het |
Cd81 |
T |
C |
7: 142,621,089 (GRCm39) |
I230T |
probably benign |
Het |
Cdc20b |
A |
T |
13: 113,227,576 (GRCm39) |
R485S |
possibly damaging |
Het |
Cenpp |
C |
A |
13: 49,617,730 (GRCm39) |
A273S |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,236,868 (GRCm39) |
V2022A |
probably benign |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cfap61 |
C |
A |
2: 145,781,919 (GRCm39) |
|
probably benign |
Het |
Col8a1 |
T |
A |
16: 57,448,727 (GRCm39) |
H261L |
unknown |
Het |
Cyp2j5 |
A |
T |
4: 96,517,760 (GRCm39) |
M484K |
probably benign |
Het |
D930020B18Rik |
T |
C |
10: 121,521,527 (GRCm39) |
|
probably benign |
Het |
Dhdds |
A |
T |
4: 133,710,160 (GRCm39) |
L203Q |
probably damaging |
Het |
Dusp6 |
A |
G |
10: 99,102,156 (GRCm39) |
T381A |
probably damaging |
Het |
Elp1 |
A |
G |
4: 56,774,686 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
A |
G |
2: 90,581,523 (GRCm39) |
D192G |
probably benign |
Het |
Gbp2 |
G |
T |
3: 142,337,780 (GRCm39) |
V299F |
probably damaging |
Het |
Gfpt1 |
G |
T |
6: 87,030,813 (GRCm39) |
V66F |
probably damaging |
Het |
Heatr1 |
T |
C |
13: 12,422,390 (GRCm39) |
|
probably benign |
Het |
Irf8 |
T |
A |
8: 121,480,097 (GRCm39) |
S112T |
probably damaging |
Het |
Jmy |
G |
T |
13: 93,635,707 (GRCm39) |
N36K |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,498,193 (GRCm39) |
I866T |
probably benign |
Het |
Kif1c |
A |
T |
11: 70,596,015 (GRCm39) |
M210L |
probably damaging |
Het |
Kng1 |
G |
A |
16: 22,893,442 (GRCm39) |
V272I |
possibly damaging |
Het |
Lrig2 |
A |
C |
3: 104,401,389 (GRCm39) |
M166R |
probably damaging |
Het |
Mastl |
A |
G |
2: 23,029,931 (GRCm39) |
L265P |
probably damaging |
Het |
Mmp27 |
A |
G |
9: 7,581,377 (GRCm39) |
T547A |
probably benign |
Het |
Myh4 |
T |
C |
11: 67,139,305 (GRCm39) |
C541R |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,325,862 (GRCm39) |
F15L |
possibly damaging |
Het |
Nipal1 |
G |
T |
5: 72,820,968 (GRCm39) |
|
probably null |
Het |
Nrp2 |
A |
T |
1: 62,810,893 (GRCm39) |
N645Y |
probably damaging |
Het |
Or1j19 |
T |
A |
2: 36,676,858 (GRCm39) |
F107Y |
possibly damaging |
Het |
Or4g17 |
T |
A |
2: 111,209,935 (GRCm39) |
F197I |
possibly damaging |
Het |
Or7d9 |
T |
A |
9: 20,197,280 (GRCm39) |
M103K |
probably benign |
Het |
Plcl1 |
T |
A |
1: 55,734,946 (GRCm39) |
S96T |
probably damaging |
Het |
Prl2c1 |
A |
C |
13: 28,040,524 (GRCm39) |
D139A |
probably benign |
Het |
Prmt5 |
A |
T |
14: 54,754,055 (GRCm39) |
M43K |
possibly damaging |
Het |
Ptpn21 |
T |
A |
12: 98,646,315 (GRCm39) |
M1048L |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,521,427 (GRCm39) |
E653G |
possibly damaging |
Het |
Rtn3 |
A |
G |
19: 7,460,455 (GRCm39) |
|
probably benign |
Het |
Shoc2 |
T |
C |
19: 53,991,458 (GRCm39) |
I241T |
probably benign |
Het |
Sipa1 |
A |
T |
19: 5,706,189 (GRCm39) |
D380E |
probably damaging |
Het |
Slc1a6 |
T |
C |
10: 78,650,442 (GRCm39) |
V560A |
probably benign |
Het |
Speer2 |
T |
C |
16: 69,655,003 (GRCm39) |
H154R |
possibly damaging |
Het |
Tlk1 |
A |
T |
2: 70,576,380 (GRCm39) |
C247* |
probably null |
Het |
Trim15 |
A |
G |
17: 37,177,785 (GRCm39) |
L70P |
probably damaging |
Het |
Ttc9b |
T |
C |
7: 27,354,358 (GRCm39) |
L148P |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,232,538 (GRCm39) |
P627S |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |