Incidental Mutation 'R5541:Rbak'
| ID |
435954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbak
|
| Ensembl Gene |
ENSMUSG00000061898 |
| Gene Name |
RB-associated KRAB zinc finger |
| Synonyms |
|
| MMRRC Submission |
043099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R5541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143157941-143166530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143159745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 436
(S436F)
|
| 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: S436F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059273
Gene: ENSMUSG00000061898
AA Change: S436F
| 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: ENSMUST00000164068
AA Change: S436F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133089
Gene: ENSMUSG00000061898
AA Change: S436F
| 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 |
|
Pfam:zf-C2H2_6
|
675 |
689 |
3.3e-1 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165318
AA Change: S436F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128731
Gene: ENSMUSG00000061898
AA Change: S436F
| 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 |
0.4884 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 87,061,808 (GRCm39) |
K86R |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,241,545 (GRCm39) |
V1136A |
probably benign |
Het |
| Arfgap2 |
G |
A |
2: 91,106,114 (GRCm39) |
R530H |
probably benign |
Het |
| Arhgap30 |
T |
C |
1: 171,231,707 (GRCm39) |
|
probably null |
Het |
| Asb7 |
T |
C |
7: 66,329,017 (GRCm39) |
R8G |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,949,276 (GRCm39) |
N2949D |
probably benign |
Het |
| Ccdc86 |
T |
C |
19: 10,925,918 (GRCm39) |
E227G |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,765,641 (GRCm39) |
D261G |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,778,132 (GRCm39) |
E2714D |
probably benign |
Het |
| Dcp1a |
T |
A |
14: 30,224,796 (GRCm39) |
S126R |
probably damaging |
Het |
| Defa17 |
T |
A |
8: 22,146,565 (GRCm39) |
C64S |
probably damaging |
Het |
| Depdc5 |
A |
T |
5: 33,021,973 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,076,908 (GRCm39) |
N259S |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,169,971 (GRCm39) |
L323Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 66,036,162 (GRCm39) |
Y416C |
probably damaging |
Het |
| Faap100 |
T |
A |
11: 120,268,458 (GRCm39) |
E105V |
possibly damaging |
Het |
| Fbxw15 |
T |
G |
9: 109,394,498 (GRCm39) |
I106L |
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,697,588 (GRCm39) |
M384T |
probably benign |
Het |
| Gm10610 |
A |
G |
7: 83,198,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr22 |
A |
G |
12: 31,759,348 (GRCm39) |
F258S |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,247,862 (GRCm39) |
T1233I |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,270,136 (GRCm39) |
Q2365K |
probably benign |
Het |
| Intu |
A |
G |
3: 40,647,017 (GRCm39) |
|
probably null |
Het |
| Kdm1b |
T |
C |
13: 47,232,672 (GRCm39) |
M714T |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,852,316 (GRCm39) |
M924T |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,536,577 (GRCm39) |
M636L |
probably benign |
Het |
| Klrb1a |
G |
A |
6: 128,586,699 (GRCm39) |
H219Y |
probably benign |
Het |
| Macroh2a2 |
T |
C |
10: 61,583,496 (GRCm39) |
I215V |
probably benign |
Het |
| Marchf10 |
C |
T |
11: 105,280,957 (GRCm39) |
D443N |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
| Or8b39 |
T |
C |
9: 37,996,419 (GRCm39) |
C96R |
probably damaging |
Het |
| Or9i1 |
T |
C |
19: 13,839,328 (GRCm39) |
I57T |
probably benign |
Het |
| Pard3b |
A |
G |
1: 61,678,502 (GRCm39) |
Y34C |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,856 (GRCm39) |
V441E |
probably damaging |
Het |
| Pde6g |
A |
T |
11: 120,338,998 (GRCm39) |
I64N |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,571 (GRCm39) |
V593M |
probably damaging |
Het |
| Pnn |
T |
G |
12: 59,118,716 (GRCm39) |
V433G |
possibly damaging |
Het |
| Rpl11 |
A |
G |
4: 135,780,043 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,785,610 (GRCm39) |
Q1701K |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,756,386 (GRCm39) |
|
probably benign |
Het |
| St8sia2 |
T |
C |
7: 73,616,648 (GRCm39) |
D109G |
probably benign |
Het |
| Stk-ps1 |
T |
A |
17: 36,709,105 (GRCm39) |
|
noncoding transcript |
Het |
| Stxbp3-ps |
C |
T |
19: 9,535,334 (GRCm39) |
|
noncoding transcript |
Het |
| Taf1d |
T |
A |
9: 15,220,146 (GRCm39) |
F132I |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tnk2 |
C |
T |
16: 32,488,341 (GRCm39) |
T198I |
probably benign |
Het |
| Trappc2b |
T |
C |
11: 51,576,796 (GRCm39) |
H34R |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,099,163 (GRCm39) |
V168E |
possibly damaging |
Het |
| Ucma |
A |
G |
2: 4,986,141 (GRCm39) |
R105G |
probably benign |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,617 (GRCm39) |
Q171* |
probably null |
Het |
| Wapl |
T |
C |
14: 34,452,619 (GRCm39) |
|
probably null |
Het |
| Zfand4 |
T |
A |
6: 116,291,256 (GRCm39) |
C397S |
possibly damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,675,583 (GRCm39) |
N2211S |
probably damaging |
Het |
| Zfp143 |
G |
T |
7: 109,669,687 (GRCm39) |
G39C |
probably benign |
Het |
| Zfp568 |
T |
A |
7: 29,722,301 (GRCm39) |
D414E |
possibly damaging |
Het |
| Zfp574 |
C |
T |
7: 24,781,375 (GRCm39) |
A799V |
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 |
|
|
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 |
|
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'- TAGGTCGCCTGTGTGATCAG -3'
(R):5'- TTTGTCAGAAGTTACACCTCACACAG -3'
Sequencing Primer
(F):5'- TGTGTGATCAGGGGCACAC -3'
(R):5'- ATGAATGTGGGAAATCCTTCTCCCG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation