Incidental Mutation 'R5487:Krba1'
| ID |
430407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krba1
|
| Ensembl Gene |
ENSMUSG00000042810 |
| Gene Name |
KRAB-A domain containing 1 |
| Synonyms |
A930040G15Rik |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48380973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 103
(V103A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110219
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031815]
[ENSMUST00000077093]
[ENSMUST00000114571]
[ENSMUST00000114572]
[ENSMUST00000203371]
|
| AlphaFold |
Q6NXZ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031815
AA Change: V124A
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: V124A
| 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: V68A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: V68A
| 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: V68A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: V68A
| 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: V103A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: V103A
| 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 |
probably benign
Transcript: ENSMUST00000203371
AA Change: V68A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: V68A
| 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 |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Noxo1 |
C |
T |
17: 24,917,291 (GRCm39) |
|
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
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 |
|
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 |
|
|
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 |
|
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'- TGAGATCTACTGGGCAAGAAC -3'
(R):5'- TGAGCTGTTCCTGTACCCAG -3'
Sequencing Primer
(F):5'- GGCAAGAACCCTCCTAAGTC -3'
(R):5'- AGCAGGTCCCAGAAGCTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation