Incidental Mutation 'IGL01843:Rbak'
ID |
178120 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbak
|
Ensembl Gene |
ENSMUSG00000061898 |
Gene Name |
RB-associated KRAB zinc finger |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
IGL01843
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
143157941-143166530 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 143162355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031574]
[ENSMUST00000049861]
[ENSMUST00000159781]
[ENSMUST00000165318]
|
AlphaFold |
Q8BQC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031574
|
SMART Domains |
Protein: ENSMUSP00000031574 Gene: ENSMUSG00000029586
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
48 |
N/A |
INTRINSIC |
Pfam:Spy1
|
84 |
213 |
1e-67 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000049861
|
SMART Domains |
Protein: ENSMUSP00000059273 Gene: ENSMUSG00000061898
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
6.89e-36 |
SMART |
ZnF_C2H2
|
258 |
280 |
1.1e-2 |
SMART |
ZnF_C2H2
|
286 |
308 |
1.4e-4 |
SMART |
ZnF_C2H2
|
314 |
336 |
5.21e-4 |
SMART |
ZnF_C2H2
|
342 |
364 |
1.95e-3 |
SMART |
ZnF_C2H2
|
370 |
392 |
2.3e-5 |
SMART |
ZnF_C2H2
|
398 |
420 |
3.95e-4 |
SMART |
ZnF_C2H2
|
426 |
448 |
5.59e-4 |
SMART |
ZnF_C2H2
|
454 |
476 |
1.12e-3 |
SMART |
ZnF_C2H2
|
508 |
528 |
1.4e1 |
SMART |
ZnF_C2H2
|
536 |
558 |
3.89e-3 |
SMART |
ZnF_C2H2
|
564 |
586 |
1.04e-3 |
SMART |
ZnF_C2H2
|
592 |
614 |
5.42e-2 |
SMART |
ZnF_C2H2
|
620 |
642 |
1.5e-4 |
SMART |
ZnF_C2H2
|
648 |
670 |
9.22e-5 |
SMART |
ZnF_C2H2
|
676 |
698 |
5.21e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159781
|
SMART Domains |
Protein: ENSMUSP00000125524 Gene: ENSMUSG00000029586
Domain | Start | End | E-Value | Type |
low complexity region
|
40 |
48 |
N/A |
INTRINSIC |
Pfam:Spy1
|
84 |
213 |
1.3e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165318
|
SMART Domains |
Protein: ENSMUSP00000128731 Gene: ENSMUSG00000061898
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
6.89e-36 |
SMART |
ZnF_C2H2
|
258 |
280 |
1.1e-2 |
SMART |
ZnF_C2H2
|
286 |
308 |
1.4e-4 |
SMART |
ZnF_C2H2
|
314 |
336 |
5.21e-4 |
SMART |
ZnF_C2H2
|
342 |
364 |
1.95e-3 |
SMART |
ZnF_C2H2
|
370 |
392 |
2.3e-5 |
SMART |
ZnF_C2H2
|
398 |
420 |
3.95e-4 |
SMART |
ZnF_C2H2
|
426 |
448 |
5.59e-4 |
SMART |
ZnF_C2H2
|
454 |
476 |
1.12e-3 |
SMART |
ZnF_C2H2
|
508 |
528 |
1.4e1 |
SMART |
ZnF_C2H2
|
536 |
558 |
3.89e-3 |
SMART |
ZnF_C2H2
|
564 |
586 |
1.04e-3 |
SMART |
ZnF_C2H2
|
592 |
614 |
5.42e-2 |
SMART |
ZnF_C2H2
|
620 |
642 |
1.5e-4 |
SMART |
ZnF_C2H2
|
648 |
670 |
9.22e-5 |
SMART |
ZnF_C2H2
|
676 |
698 |
5.21e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166382
|
SMART Domains |
Protein: ENSMUSP00000132239 Gene: ENSMUSG00000061898
Domain | Start | End | E-Value | Type |
KRAB
|
27 |
87 |
6.89e-36 |
SMART |
ZnF_C2H2
|
277 |
299 |
1.1e-2 |
SMART |
ZnF_C2H2
|
305 |
327 |
1.4e-4 |
SMART |
ZnF_C2H2
|
333 |
355 |
5.21e-4 |
SMART |
ZnF_C2H2
|
361 |
383 |
1.95e-3 |
SMART |
ZnF_C2H2
|
389 |
411 |
2.3e-5 |
SMART |
ZnF_C2H2
|
417 |
439 |
3.95e-4 |
SMART |
ZnF_C2H2
|
445 |
467 |
5.59e-4 |
SMART |
ZnF_C2H2
|
473 |
495 |
1.12e-3 |
SMART |
ZnF_C2H2
|
527 |
547 |
1.4e1 |
SMART |
ZnF_C2H2
|
555 |
577 |
3.89e-3 |
SMART |
ZnF_C2H2
|
583 |
605 |
1.04e-3 |
SMART |
ZnF_C2H2
|
611 |
633 |
5.42e-2 |
SMART |
ZnF_C2H2
|
639 |
661 |
1.5e-4 |
SMART |
ZnF_C2H2
|
667 |
689 |
9.22e-5 |
SMART |
ZnF_C2H2
|
695 |
717 |
5.21e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199880
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
Ap1b1 |
T |
C |
11: 4,989,169 (GRCm39) |
L782P |
probably damaging |
Het |
Arid1a |
T |
C |
4: 133,408,765 (GRCm39) |
D1914G |
unknown |
Het |
C8a |
G |
A |
4: 104,719,808 (GRCm39) |
Q57* |
probably null |
Het |
Cachd1 |
T |
C |
4: 100,850,069 (GRCm39) |
S1144P |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,255,598 (GRCm39) |
|
probably null |
Het |
Cenpe |
A |
G |
3: 134,924,268 (GRCm39) |
Q198R |
possibly damaging |
Het |
Cpne8 |
T |
C |
15: 90,453,700 (GRCm39) |
I228V |
probably benign |
Het |
Cr2 |
A |
T |
1: 194,833,222 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,522,395 (GRCm39) |
|
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 43,994,046 (GRCm39) |
V440A |
probably benign |
Het |
Dag1 |
T |
C |
9: 108,085,281 (GRCm39) |
D620G |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,011,449 (GRCm39) |
L1202* |
probably null |
Het |
Dnah3 |
T |
G |
7: 119,542,798 (GRCm39) |
H3538P |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,067,292 (GRCm39) |
Q312L |
probably benign |
Het |
E2f7 |
T |
G |
10: 110,610,596 (GRCm39) |
V407G |
probably benign |
Het |
F13b |
T |
C |
1: 139,444,165 (GRCm39) |
S500P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,039,395 (GRCm39) |
I2002V |
probably benign |
Het |
Flywch1 |
T |
A |
17: 23,979,319 (GRCm39) |
M439L |
possibly damaging |
Het |
Gcn1 |
C |
A |
5: 115,757,759 (GRCm39) |
A2488E |
probably damaging |
Het |
Gria1 |
T |
C |
11: 57,208,600 (GRCm39) |
S832P |
probably damaging |
Het |
Hnrnpr |
T |
C |
4: 136,066,724 (GRCm39) |
|
probably benign |
Het |
Hps3 |
A |
G |
3: 20,083,165 (GRCm39) |
I177T |
probably benign |
Het |
Irgm2 |
G |
A |
11: 58,111,167 (GRCm39) |
G298D |
probably benign |
Het |
Kcnk7 |
G |
A |
19: 5,756,230 (GRCm39) |
G152D |
probably damaging |
Het |
Man2a2 |
T |
C |
7: 80,012,654 (GRCm39) |
T620A |
probably benign |
Het |
Mapk12 |
A |
G |
15: 89,021,669 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
T |
C |
9: 75,297,572 (GRCm39) |
Y315C |
probably damaging |
Het |
Mdga2 |
T |
A |
12: 66,769,905 (GRCm39) |
|
probably null |
Het |
Met |
T |
A |
6: 17,491,700 (GRCm39) |
I154N |
probably damaging |
Het |
Mtrex |
T |
C |
13: 113,055,095 (GRCm39) |
|
probably benign |
Het |
Nap1l1 |
A |
G |
10: 111,328,772 (GRCm39) |
R234G |
possibly damaging |
Het |
Olfm5 |
C |
A |
7: 103,809,951 (GRCm39) |
V137F |
possibly damaging |
Het |
Or4d11 |
G |
T |
19: 12,014,041 (GRCm39) |
H22N |
probably benign |
Het |
Pcdha11 |
C |
T |
18: 37,145,886 (GRCm39) |
T659I |
probably benign |
Het |
Pfkm |
T |
C |
15: 98,027,187 (GRCm39) |
V620A |
possibly damaging |
Het |
Rbl2 |
A |
G |
8: 91,816,844 (GRCm39) |
I401M |
probably benign |
Het |
Rragc |
T |
C |
4: 123,814,852 (GRCm39) |
S183P |
probably damaging |
Het |
Septin3 |
A |
G |
15: 82,163,814 (GRCm39) |
|
probably benign |
Het |
Slc22a6 |
A |
T |
19: 8,603,578 (GRCm39) |
|
probably benign |
Het |
Spag4 |
A |
T |
2: 155,910,417 (GRCm39) |
T348S |
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,054,623 (GRCm39) |
R2157G |
probably benign |
Het |
Tmem168 |
G |
A |
6: 13,582,940 (GRCm39) |
T263M |
probably damaging |
Het |
Tnik |
T |
A |
3: 28,625,007 (GRCm39) |
|
probably null |
Het |
Tnpo2 |
T |
A |
8: 85,777,137 (GRCm39) |
V549E |
probably damaging |
Het |
Ttll7 |
A |
C |
3: 146,645,776 (GRCm39) |
K545Q |
possibly damaging |
Het |
Tubgcp5 |
T |
G |
7: 55,449,221 (GRCm39) |
D139E |
probably benign |
Het |
Vmn1r233 |
T |
A |
17: 21,214,861 (GRCm39) |
N30Y |
probably damaging |
Het |
Vmn2r25 |
T |
G |
6: 123,829,962 (GRCm39) |
D63A |
possibly damaging |
Het |
Vmn2r79 |
T |
A |
7: 86,686,485 (GRCm39) |
L622Q |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,222,148 (GRCm39) |
M691V |
probably benign |
Het |
Zc3hc1 |
A |
T |
6: 30,372,729 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Rbak |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
BB001:Rbak
|
UTSW |
5 |
143,160,241 (GRCm39) |
missense |
probably damaging |
1.00 |
BB011:Rbak
|
UTSW |
5 |
143,160,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R0117:Rbak
|
UTSW |
5 |
143,159,387 (GRCm39) |
nonsense |
probably null |
|
R0514:Rbak
|
UTSW |
5 |
143,159,169 (GRCm39) |
missense |
probably damaging |
0.96 |
R0945:Rbak
|
UTSW |
5 |
143,159,334 (GRCm39) |
missense |
probably damaging |
1.00 |
R1483:Rbak
|
UTSW |
5 |
143,160,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Rbak
|
UTSW |
5 |
143,159,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R1916:Rbak
|
UTSW |
5 |
143,161,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R1960:Rbak
|
UTSW |
5 |
143,160,437 (GRCm39) |
nonsense |
probably null |
|
R2039:Rbak
|
UTSW |
5 |
143,158,930 (GRCm39) |
missense |
probably benign |
0.37 |
R2070:Rbak
|
UTSW |
5 |
143,162,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R2071:Rbak
|
UTSW |
5 |
143,162,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R2151:Rbak
|
UTSW |
5 |
143,162,257 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2877:Rbak
|
UTSW |
5 |
143,159,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4030:Rbak
|
UTSW |
5 |
143,159,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Rbak
|
UTSW |
5 |
143,161,878 (GRCm39) |
missense |
probably benign |
0.00 |
R4612:Rbak
|
UTSW |
5 |
143,160,222 (GRCm39) |
missense |
probably benign |
0.01 |
R5229:Rbak
|
UTSW |
5 |
143,159,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R5518:Rbak
|
UTSW |
5 |
143,159,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R5541:Rbak
|
UTSW |
5 |
143,159,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5873:Rbak
|
UTSW |
5 |
143,159,466 (GRCm39) |
missense |
probably benign |
0.32 |
R5908:Rbak
|
UTSW |
5 |
143,159,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R6053:Rbak
|
UTSW |
5 |
143,160,437 (GRCm39) |
nonsense |
probably null |
|
R6416:Rbak
|
UTSW |
5 |
143,162,307 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6693:Rbak
|
UTSW |
5 |
143,159,866 (GRCm39) |
missense |
probably damaging |
0.97 |
R7041:Rbak
|
UTSW |
5 |
143,159,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R7057:Rbak
|
UTSW |
5 |
143,159,682 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7341:Rbak
|
UTSW |
5 |
143,161,827 (GRCm39) |
missense |
probably benign |
0.01 |
R7454:Rbak
|
UTSW |
5 |
143,159,528 (GRCm39) |
nonsense |
probably null |
|
R7921:Rbak
|
UTSW |
5 |
143,160,017 (GRCm39) |
missense |
probably damaging |
0.97 |
R7924:Rbak
|
UTSW |
5 |
143,160,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R8939:Rbak
|
UTSW |
5 |
143,160,025 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9533:Rbak
|
UTSW |
5 |
143,160,172 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Rbak
|
UTSW |
5 |
143,162,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |