Incidental Mutation 'R6693:Rbak'
| ID |
528168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbak
|
| Ensembl Gene |
ENSMUSG00000061898 |
| Gene Name |
RB-associated KRAB zinc finger |
| Synonyms |
|
| MMRRC Submission |
044811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143157941-143166530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143159866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 396
(K396E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049861]
[ENSMUST00000165318]
|
| AlphaFold |
Q8BQC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049861
AA Change: K396E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: K396E
| 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 damaging
Transcript: ENSMUST00000165318
AA Change: K396E
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: K396E
| 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
|
| Meta Mutation Damage Score |
0.2597 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
| Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,590,587 (GRCm39) |
N195Y |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
| Cpeb2 |
A |
T |
5: 43,443,255 (GRCm39) |
D982V |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,561 (GRCm39) |
V184A |
possibly damaging |
Het |
| Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pax9 |
T |
A |
12: 56,756,516 (GRCm39) |
S285T |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
| Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,210,380 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sucla2 |
T |
A |
14: 73,806,107 (GRCm39) |
L102* |
probably null |
Het |
| Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,669,837 (GRCm39) |
E111G |
probably benign |
Het |
| Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
probably benign |
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 |
|
|
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 |
|
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'- CCAGTGCCTAATGAAAGCAGAG -3'
(R):5'- GTCGGACTTCAGTACATATCCG -3'
Sequencing Primer
(F):5'- CCACATTCTGTACACTCGTAAGG -3'
(R):5'- CCCTTCGAATGTACACAGTGTGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation