Incidental Mutation 'IGL01764:Krba1'
ID |
153637 |
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: 0.063)
|
Stock # |
IGL01764
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 48392770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 895
(R895W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110219
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031815]
[ENSMUST00000077093]
[ENSMUST00000114571]
[ENSMUST00000114572]
[ENSMUST00000203371]
|
AlphaFold |
Q6NXZ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031815
AA Change: R849W
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031815 Gene: ENSMUSG00000042810 AA Change: R849W
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 benign
Transcript: ENSMUST00000077093
AA Change: R860W
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000076345 Gene: ENSMUSG00000042810 AA Change: R860W
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 benign
Transcript: ENSMUST00000114571
AA Change: R860W
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110218 Gene: ENSMUSG00000042810 AA Change: R860W
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 benign
Transcript: ENSMUST00000114572
AA Change: R895W
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000110219 Gene: ENSMUSG00000042810 AA Change: R895W
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: ENSMUST00000154536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175344
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203371
AA Change: R859W
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000145256 Gene: ENSMUSG00000042810 AA Change: R859W
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
T |
10: 86,909,910 (GRCm39) |
M1L |
probably benign |
Het |
BC025920 |
T |
A |
10: 81,444,984 (GRCm39) |
Y36N |
probably damaging |
Het |
Cdk11b |
G |
A |
4: 155,713,260 (GRCm39) |
R112H |
possibly damaging |
Het |
Ctu2 |
G |
A |
8: 123,206,161 (GRCm39) |
|
probably benign |
Het |
Ddx56 |
A |
C |
11: 6,215,692 (GRCm39) |
V219G |
probably null |
Het |
Dnah14 |
T |
C |
1: 181,572,342 (GRCm39) |
V2891A |
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,178,423 (GRCm39) |
N1938K |
probably damaging |
Het |
Fbxw20 |
A |
G |
9: 109,052,427 (GRCm39) |
M302T |
possibly damaging |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gpat2 |
T |
C |
2: 127,269,456 (GRCm39) |
I36T |
probably benign |
Het |
Gsta5 |
A |
T |
9: 78,211,789 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,295,642 (GRCm39) |
E2617G |
possibly damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Large2 |
G |
T |
2: 92,197,531 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,587,454 (GRCm39) |
V165M |
unknown |
Het |
Mapk1 |
T |
A |
16: 16,801,597 (GRCm39) |
M36K |
possibly damaging |
Het |
Nf1 |
A |
G |
11: 79,275,013 (GRCm39) |
T25A |
probably benign |
Het |
Nrxn3 |
G |
A |
12: 90,171,524 (GRCm39) |
V1316I |
possibly damaging |
Het |
Pik3r4 |
G |
A |
9: 105,562,321 (GRCm39) |
|
probably benign |
Het |
Plekhh1 |
G |
T |
12: 79,101,679 (GRCm39) |
A250S |
probably benign |
Het |
Polr3g |
G |
A |
13: 81,830,238 (GRCm39) |
T145M |
possibly damaging |
Het |
Prss32 |
A |
G |
17: 24,075,085 (GRCm39) |
D145G |
probably damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,287,667 (GRCm39) |
K162R |
probably benign |
Het |
Spag7 |
A |
G |
11: 70,554,933 (GRCm39) |
|
probably benign |
Het |
Spata2l |
T |
A |
8: 123,960,914 (GRCm39) |
Q125L |
probably benign |
Het |
Tlr9 |
G |
T |
9: 106,103,004 (GRCm39) |
C765F |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,850,890 (GRCm39) |
I773N |
probably damaging |
Het |
Vcan |
T |
G |
13: 89,873,507 (GRCm39) |
T116P |
probably damaging |
Het |
Vmn2r22 |
C |
T |
6: 123,627,379 (GRCm39) |
|
probably null |
Het |
Yme1l1 |
T |
C |
2: 23,052,556 (GRCm39) |
I70T |
probably benign |
Het |
Zfp938 |
T |
A |
10: 82,063,624 (GRCm39) |
|
probably benign |
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 |
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 |
|
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 |
2014-02-04 |