Incidental Mutation 'R2039:Rbak'
| ID |
225397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbak
|
| Ensembl Gene |
ENSMUSG00000061898 |
| Gene Name |
RB-associated KRAB zinc finger |
| Synonyms |
|
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143157941-143166530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143158930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 708
(V708L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049861]
[ENSMUST00000165318]
|
| AlphaFold |
Q8BQC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049861
AA Change: V708L
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: V708L
| 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: ENSMUST00000165318
AA Change: V708L
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: V708L
| 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 |
|
| Meta Mutation Damage Score |
0.1192 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,951 (GRCm39) |
T34A |
unknown |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
probably damaging |
Het |
|
| Other mutations in Rbak |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01843:Rbak
|
APN |
5 |
143,162,355 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTTCCAATGTTCACTATAACC -3'
(R):5'- TGTCGAACCTCACCGTACAC -3'
Sequencing Primer
(F):5'- TCTTAAGAACTGAGATGTCACTGGGC -3'
(R):5'- CTACCGAAGCCATTCAGGAGAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation