Incidental Mutation 'IGL02681:Krba1'
| ID |
303374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krba1
|
| Ensembl Gene |
ENSMUSG00000042810 |
| Gene Name |
KRAB-A domain containing 1 |
| Synonyms |
A930040G15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL02681
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48381052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 129
(D129E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031815]
[ENSMUST00000077093]
[ENSMUST00000114571]
[ENSMUST00000114572]
[ENSMUST00000203371]
|
| AlphaFold |
Q6NXZ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031815
AA Change: D150E
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: D150E
| 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 damaging
Transcript: ENSMUST00000077093
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: D94E
| 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 damaging
Transcript: ENSMUST00000114571
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: D94E
| 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 damaging
Transcript: ENSMUST00000114572
AA Change: D129E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: D129E
| 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: ENSMUST00000127980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148697
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203371
AA Change: D94E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: D94E
| 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: ENSMUST00000204308
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcar3 |
C |
T |
3: 122,306,417 (GRCm39) |
|
probably null |
Het |
| Cyp3a59 |
T |
C |
5: 146,027,556 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
G |
A |
11: 69,343,759 (GRCm39) |
T2844M |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,770,853 (GRCm39) |
I241M |
probably damaging |
Het |
| Fancl |
G |
A |
11: 26,418,722 (GRCm39) |
|
probably null |
Het |
| Filip1l |
A |
G |
16: 57,392,142 (GRCm39) |
Q910R |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,658,641 (GRCm39) |
V1139E |
probably damaging |
Het |
| Gm4787 |
A |
G |
12: 81,425,543 (GRCm39) |
V205A |
possibly damaging |
Het |
| Gpr158 |
T |
A |
2: 21,820,441 (GRCm39) |
L646Q |
probably damaging |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Il11ra1 |
T |
A |
4: 41,768,552 (GRCm39) |
M412K |
possibly damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,382 (GRCm39) |
M91L |
probably damaging |
Het |
| Mat1a |
T |
C |
14: 40,844,453 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
A |
11: 98,600,565 (GRCm39) |
K627* |
probably null |
Het |
| Mpl |
A |
T |
4: 118,306,068 (GRCm39) |
|
probably benign |
Het |
| Mynn |
T |
A |
3: 30,670,791 (GRCm39) |
D554E |
probably benign |
Het |
| Niban2 |
A |
G |
2: 32,801,402 (GRCm39) |
Y122C |
probably benign |
Het |
| Or1e23 |
T |
C |
11: 73,407,356 (GRCm39) |
Y223C |
probably benign |
Het |
| Prkcd |
T |
C |
14: 30,323,190 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
T |
C |
1: 162,533,181 (GRCm39) |
|
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,665,804 (GRCm39) |
F48L |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,012,471 (GRCm39) |
H198R |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 165,958,905 (GRCm39) |
V101A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,040,611 (GRCm39) |
V144E |
probably damaging |
Het |
| Tas2r113 |
T |
G |
6: 132,870,330 (GRCm39) |
F119L |
probably damaging |
Het |
| Tspan17 |
A |
G |
13: 54,937,442 (GRCm39) |
E12G |
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 |
|
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 |
|
|
R4638:Krba1
|
UTSW |
6 |
48,386,685 (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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation