Incidental Mutation 'R0117:Rbak'
| ID |
20872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbak
|
| Ensembl Gene |
ENSMUSG00000061898 |
| Gene Name |
RB-associated KRAB zinc finger |
| Synonyms |
|
| MMRRC Submission |
038403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R0117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
143157941-143166530 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 143159387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 555
(Y555*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049861]
[ENSMUST00000165318]
|
| AlphaFold |
Q8BQC8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049861
AA Change: Y555*
|
| SMART Domains |
Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: Y555*
| 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 null
Transcript: ENSMUST00000165318
AA Change: Y555*
|
| SMART Domains |
Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: Y555*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.1%
|
| Validation Efficiency |
95% (59/62) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl4 |
A |
T |
17: 33,999,776 (GRCm39) |
I141K |
probably damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,194 (GRCm39) |
D102E |
possibly damaging |
Het |
| Btaf1 |
A |
G |
19: 36,947,368 (GRCm39) |
T486A |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,640,817 (GRCm39) |
T624A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,983,808 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
C |
18: 67,759,744 (GRCm39) |
Y323C |
possibly damaging |
Het |
| CK137956 |
T |
A |
4: 127,840,585 (GRCm39) |
T374S |
possibly damaging |
Het |
| Cyp2b23 |
A |
T |
7: 26,372,539 (GRCm39) |
F359I |
probably benign |
Het |
| Cyp4f13 |
G |
T |
17: 33,149,580 (GRCm39) |
H194Q |
probably damaging |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,474,878 (GRCm39) |
H1228R |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,240,016 (GRCm39) |
D667E |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,106,037 (GRCm39) |
R716* |
probably null |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Gmpr |
T |
A |
13: 45,670,560 (GRCm39) |
|
probably null |
Het |
| Gsta5 |
C |
T |
9: 78,211,700 (GRCm39) |
T154I |
probably damaging |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Herc2 |
C |
A |
7: 55,863,359 (GRCm39) |
|
probably benign |
Het |
| Htr2a |
G |
A |
14: 74,882,533 (GRCm39) |
R173H |
probably damaging |
Het |
| Impg2 |
A |
G |
16: 56,082,005 (GRCm39) |
N979S |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,670 (GRCm39) |
Y417C |
probably damaging |
Het |
| Lmf1 |
G |
T |
17: 25,874,965 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,790,036 (GRCm39) |
R659C |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,413,832 (GRCm39) |
V416A |
possibly damaging |
Het |
| Mgarp |
G |
T |
3: 51,304,133 (GRCm39) |
|
probably benign |
Het |
| Mpp3 |
G |
A |
11: 101,891,399 (GRCm39) |
P580S |
probably damaging |
Het |
| Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
| Ninl |
G |
A |
2: 150,779,593 (GRCm39) |
R269W |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,795,595 (GRCm39) |
E2G |
probably damaging |
Het |
| Or8g19 |
T |
A |
9: 39,056,146 (GRCm39) |
I250N |
probably damaging |
Het |
| Or8h8 |
T |
A |
2: 86,753,214 (GRCm39) |
I221F |
probably damaging |
Het |
| Pcnt |
A |
T |
10: 76,244,561 (GRCm39) |
L1173* |
probably null |
Het |
| Pde6c |
A |
G |
19: 38,139,979 (GRCm39) |
E314G |
probably damaging |
Het |
| Peds1 |
A |
G |
2: 167,486,678 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,623,003 (GRCm39) |
M1V |
probably null |
Het |
| Pkdrej |
T |
A |
15: 85,700,300 (GRCm39) |
|
probably null |
Het |
| Plch2 |
T |
A |
4: 155,069,815 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
G |
A |
11: 70,448,214 (GRCm39) |
R887Q |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,934,286 (GRCm39) |
D838G |
possibly damaging |
Het |
| Postn |
C |
T |
3: 54,290,902 (GRCm39) |
|
probably benign |
Het |
| Prl8a8 |
T |
A |
13: 27,692,473 (GRCm39) |
I172F |
probably damaging |
Het |
| Psmc4 |
A |
T |
7: 27,742,165 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,451,897 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 78,986,484 (GRCm39) |
S1017P |
probably benign |
Het |
| Serpina1c |
T |
G |
12: 103,861,271 (GRCm39) |
*414C |
probably null |
Het |
| Sntb1 |
A |
G |
15: 55,769,749 (GRCm39) |
V80A |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,944,873 (GRCm39) |
V884A |
probably benign |
Het |
| Stmnd1 |
C |
A |
13: 46,438,962 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Tgm5 |
C |
T |
2: 120,905,583 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
T |
C |
2: 174,299,577 (GRCm39) |
S420P |
probably benign |
Het |
| Tvp23b |
T |
C |
11: 62,770,430 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,347,464 (GRCm39) |
A3235V |
possibly damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,488,427 (GRCm39) |
S122P |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTACGGTGAGGTTCGACATCC -3'
(R):5'- CATTAGGCACTGGAAGGTCCATGC -3'
Sequencing Primer
(F):5'- gcgagaacactttcccacac -3'
(R):5'- TGTGCCCCTGATCACACAG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation