Incidental Mutation 'R4638:Krba1'
ID |
350792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krba1
|
Ensembl Gene |
ENSMUSG00000042810 |
Gene Name |
KRAB-A domain containing 1 |
Synonyms |
A930040G15Rik |
MMRRC Submission |
041900-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4638 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 48386685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 441
(L441*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031815]
[ENSMUST00000077093]
[ENSMUST00000114571]
[ENSMUST00000114572]
[ENSMUST00000203371]
|
AlphaFold |
Q6NXZ1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031815
AA Change: L431*
|
SMART Domains |
Protein: ENSMUSP00000031815 Gene: ENSMUSG00000042810 AA Change: L431*
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
43 |
N/A |
INTRINSIC |
KRBA1
|
154 |
197 |
1.27e-3 |
SMART |
KRBA1
|
249 |
291 |
3.23e-14 |
SMART |
KRBA1
|
310 |
355 |
8.27e-12 |
SMART |
KRBA1
|
357 |
399 |
4.98e-6 |
SMART |
low complexity region
|
452 |
459 |
N/A |
INTRINSIC |
KRBA1
|
474 |
516 |
6.03e-14 |
SMART |
KRBA1
|
576 |
619 |
7.71e-12 |
SMART |
coiled coil region
|
814 |
847 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000077093
AA Change: L442*
|
SMART Domains |
Protein: ENSMUSP00000076345 Gene: ENSMUSG00000042810 AA Change: L442*
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
34 |
2e-12 |
BLAST |
KRBA1
|
98 |
141 |
1.27e-3 |
SMART |
KRBA1
|
193 |
235 |
3.23e-14 |
SMART |
KRBA1
|
254 |
299 |
8.27e-12 |
SMART |
KRBA1
|
367 |
409 |
7.26e-8 |
SMART |
low complexity region
|
462 |
469 |
N/A |
INTRINSIC |
KRBA1
|
484 |
526 |
6.03e-14 |
SMART |
KRBA1
|
586 |
629 |
7.71e-12 |
SMART |
coiled coil region
|
824 |
857 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114571
AA Change: L442*
|
SMART Domains |
Protein: ENSMUSP00000110218 Gene: ENSMUSG00000042810 AA Change: L442*
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
34 |
2e-12 |
BLAST |
KRBA1
|
98 |
141 |
1.27e-3 |
SMART |
KRBA1
|
193 |
235 |
3.23e-14 |
SMART |
KRBA1
|
254 |
299 |
8.27e-12 |
SMART |
KRBA1
|
367 |
409 |
7.26e-8 |
SMART |
low complexity region
|
462 |
469 |
N/A |
INTRINSIC |
KRBA1
|
484 |
526 |
6.03e-14 |
SMART |
KRBA1
|
586 |
629 |
7.71e-12 |
SMART |
coiled coil region
|
824 |
857 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114572
AA Change: L477*
|
SMART Domains |
Protein: ENSMUSP00000110219 Gene: ENSMUSG00000042810 AA Change: L477*
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
34 |
2e-12 |
BLAST |
KRBA1
|
98 |
141 |
1.27e-3 |
SMART |
KRBA1
|
194 |
236 |
3.23e-14 |
SMART |
KRBA1
|
255 |
300 |
8.27e-12 |
SMART |
KRBA1
|
368 |
410 |
7.26e-8 |
SMART |
low complexity region
|
463 |
470 |
N/A |
INTRINSIC |
KRBA1
|
485 |
527 |
6.03e-14 |
SMART |
KRBA1
|
587 |
630 |
7.71e-12 |
SMART |
coiled coil region
|
825 |
858 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154536
|
Predicted Effect |
probably null
Transcript: ENSMUST00000203371
AA Change: L441*
|
SMART Domains |
Protein: ENSMUSP00000145256 Gene: ENSMUSG00000042810 AA Change: L441*
Domain | Start | End | E-Value | Type |
Blast:KRAB
|
1 |
34 |
2e-12 |
BLAST |
KRBA1
|
97 |
140 |
8.1e-8 |
SMART |
KRBA1
|
193 |
235 |
2.5e-18 |
SMART |
KRBA1
|
254 |
299 |
6.4e-16 |
SMART |
KRBA1
|
367 |
409 |
5.7e-12 |
SMART |
low complexity region
|
462 |
469 |
N/A |
INTRINSIC |
KRBA1
|
484 |
526 |
4.6e-18 |
SMART |
KRBA1
|
586 |
629 |
5.8e-16 |
SMART |
coiled coil region
|
824 |
857 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204554
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
91% (40/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
Other mutations in Krba1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00584:Krba1
|
APN |
6 |
48,383,252 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01663:Krba1
|
APN |
6 |
48,388,688 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01764:Krba1
|
APN |
6 |
48,392,770 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02036:Krba1
|
APN |
6 |
48,392,576 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02333:Krba1
|
APN |
6 |
48,390,021 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02681:Krba1
|
APN |
6 |
48,381,052 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03069:Krba1
|
APN |
6 |
48,391,483 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL03380:Krba1
|
APN |
6 |
48,380,387 (GRCm39) |
missense |
possibly damaging |
0.53 |
PIT4151001:Krba1
|
UTSW |
6 |
48,379,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R0077:Krba1
|
UTSW |
6 |
48,382,159 (GRCm39) |
splice site |
probably benign |
|
R0504:Krba1
|
UTSW |
6 |
48,393,188 (GRCm39) |
missense |
probably benign |
0.07 |
R1051:Krba1
|
UTSW |
6 |
48,390,332 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1875:Krba1
|
UTSW |
6 |
48,390,983 (GRCm39) |
splice site |
probably null |
|
R1912:Krba1
|
UTSW |
6 |
48,392,699 (GRCm39) |
missense |
probably benign |
0.45 |
R2084:Krba1
|
UTSW |
6 |
48,391,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R4035:Krba1
|
UTSW |
6 |
48,388,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R4291:Krba1
|
UTSW |
6 |
48,392,599 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4568:Krba1
|
UTSW |
6 |
48,386,657 (GRCm39) |
missense |
probably damaging |
0.98 |
R4619:Krba1
|
UTSW |
6 |
48,383,282 (GRCm39) |
nonsense |
probably null |
|
R4913:Krba1
|
UTSW |
6 |
48,383,891 (GRCm39) |
missense |
probably benign |
0.00 |
R5174:Krba1
|
UTSW |
6 |
48,389,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R5487:Krba1
|
UTSW |
6 |
48,380,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R5496:Krba1
|
UTSW |
6 |
48,383,290 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5514:Krba1
|
UTSW |
6 |
48,390,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R5879:Krba1
|
UTSW |
6 |
48,392,678 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6351:Krba1
|
UTSW |
6 |
48,391,062 (GRCm39) |
missense |
probably benign |
0.35 |
R6516:Krba1
|
UTSW |
6 |
48,390,206 (GRCm39) |
nonsense |
probably null |
|
R7003:Krba1
|
UTSW |
6 |
48,390,014 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7135:Krba1
|
UTSW |
6 |
48,393,233 (GRCm39) |
missense |
probably benign |
0.01 |
R7202:Krba1
|
UTSW |
6 |
48,389,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R7308:Krba1
|
UTSW |
6 |
48,383,273 (GRCm39) |
missense |
probably benign |
0.04 |
R7936:Krba1
|
UTSW |
6 |
48,388,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R8750:Krba1
|
UTSW |
6 |
48,382,212 (GRCm39) |
missense |
probably damaging |
0.97 |
R8894:Krba1
|
UTSW |
6 |
48,388,629 (GRCm39) |
missense |
probably damaging |
0.98 |
R9726:Krba1
|
UTSW |
6 |
48,389,298 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1177:Krba1
|
UTSW |
6 |
48,392,828 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Krba1
|
UTSW |
6 |
48,390,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGACTTCTCCTTATTCCCAAGAG -3'
(R):5'- AGGACTACAACCTCAGCTGG -3'
Sequencing Primer
(F):5'- GGGTGCTAGATAGACTTTTCATCAG -3'
(R):5'- TACAACCTCAGCTGGACCAG -3'
|
Posted On |
2015-10-08 |