Incidental Mutation 'PIT4151001:Krba1'
ID |
557021 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4151001 (G1)
|
Quality Score |
156.008 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48379831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 9
(F9S)
|
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
|
SMART Domains |
Protein: ENSMUSP00000031815 Gene: ENSMUSG00000042810
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
|
SMART Domains |
Protein: ENSMUSP00000076345 Gene: ENSMUSG00000042810
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
|
SMART Domains |
Protein: ENSMUSP00000110218 Gene: ENSMUSG00000042810
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: F9S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110219 Gene: ENSMUSG00000042810 AA Change: F9S
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 |
probably benign
Transcript: ENSMUST00000203371
|
SMART Domains |
Protein: ENSMUSP00000145256 Gene: ENSMUSG00000042810
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 |
|
Coding Region Coverage |
- 1x: 92.7%
- 3x: 90.4%
- 10x: 84.6%
- 20x: 72.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,930,670 (GRCm39) |
L1389P |
probably damaging |
Het |
Acot10 |
C |
T |
15: 20,666,684 (GRCm39) |
G19D |
probably damaging |
Het |
Adam20 |
G |
A |
8: 41,248,081 (GRCm39) |
V64I |
possibly damaging |
Het |
Ak6 |
T |
A |
13: 100,791,603 (GRCm39) |
D15E |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,118,288 (GRCm39) |
Y129H |
probably damaging |
Het |
Caskin1 |
C |
T |
17: 24,721,193 (GRCm39) |
T511I |
probably damaging |
Het |
Casp9 |
C |
T |
4: 141,521,259 (GRCm39) |
R32* |
probably null |
Het |
Ccdc40 |
A |
G |
11: 119,133,277 (GRCm39) |
E445G |
probably damaging |
Het |
Cct8 |
T |
C |
16: 87,284,545 (GRCm39) |
E273G |
probably damaging |
Het |
Chd5 |
G |
A |
4: 152,462,986 (GRCm39) |
V1380I |
probably damaging |
Het |
Coro2b |
C |
T |
9: 62,336,286 (GRCm39) |
G272D |
probably damaging |
Het |
Cyp4a10 |
C |
A |
4: 115,382,072 (GRCm39) |
H251Q |
probably damaging |
Het |
Dgki |
A |
T |
6: 37,040,916 (GRCm39) |
H298Q |
probably benign |
Het |
Dnmt3b |
T |
G |
2: 153,526,399 (GRCm39) |
|
probably null |
Het |
Dzip1 |
A |
G |
14: 119,160,200 (GRCm39) |
F3L |
probably damaging |
Het |
Egf |
A |
G |
3: 129,496,198 (GRCm39) |
S807P |
probably benign |
Het |
Emc10 |
C |
T |
7: 44,142,627 (GRCm39) |
R105H |
|
Het |
Enthd1 |
T |
C |
15: 80,336,937 (GRCm39) |
E499G |
probably damaging |
Het |
Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
Fer1l5 |
T |
A |
1: 36,450,728 (GRCm39) |
M1242K |
probably benign |
Het |
Gm3415 |
A |
G |
5: 146,493,079 (GRCm39) |
R36G |
probably benign |
Het |
Gm5797 |
C |
A |
14: 7,330,318 (GRCm38) |
M114I |
possibly damaging |
Het |
Gmppa |
A |
T |
1: 75,418,468 (GRCm39) |
R284* |
probably null |
Het |
Homer1 |
G |
C |
13: 93,485,724 (GRCm39) |
K118N |
probably damaging |
Het |
Ivl |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,608 (GRCm39) |
|
probably benign |
Het |
Kcnc4 |
G |
A |
3: 107,366,019 (GRCm39) |
A63V |
probably damaging |
Het |
Kif11 |
T |
A |
19: 37,373,045 (GRCm39) |
I88N |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,350,714 (GRCm39) |
|
probably null |
Het |
Nox4 |
A |
T |
7: 86,954,097 (GRCm39) |
Y134F |
probably benign |
Het |
Or4a79 |
T |
A |
2: 89,552,237 (GRCm39) |
T73S |
probably benign |
Het |
Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
Or52e15 |
A |
G |
7: 104,645,424 (GRCm39) |
L229P |
probably damaging |
Het |
Or5m13b |
T |
A |
2: 85,754,386 (GRCm39) |
M258K |
probably damaging |
Het |
Or5m8 |
T |
C |
2: 85,822,538 (GRCm39) |
C126R |
probably damaging |
Het |
Or8k22 |
G |
T |
2: 86,163,173 (GRCm39) |
H176N |
possibly damaging |
Het |
Pcdh17 |
G |
T |
14: 84,684,798 (GRCm39) |
V422L |
probably benign |
Het |
Pcx |
T |
A |
19: 4,653,157 (GRCm39) |
V275E |
probably damaging |
Het |
Pde6h |
A |
T |
6: 136,938,185 (GRCm39) |
M53L |
possibly damaging |
Het |
Phactr3 |
A |
T |
2: 177,975,861 (GRCm39) |
E535D |
probably damaging |
Het |
Pkn3 |
C |
A |
2: 29,980,539 (GRCm39) |
T810N |
probably damaging |
Het |
Pnpla5 |
T |
C |
15: 84,002,827 (GRCm39) |
E252G |
probably damaging |
Het |
Pramel21 |
T |
A |
4: 143,342,722 (GRCm39) |
C276* |
probably null |
Het |
Psg17 |
A |
G |
7: 18,548,530 (GRCm39) |
S414P |
probably benign |
Het |
Pzp |
T |
A |
6: 128,502,259 (GRCm39) |
Q30L |
probably benign |
Het |
Reln |
A |
T |
5: 22,491,894 (GRCm39) |
F113I |
possibly damaging |
Het |
Ret |
T |
C |
6: 118,141,702 (GRCm39) |
D975G |
probably benign |
Het |
Sarnp |
A |
G |
10: 128,713,235 (GRCm39) |
I209V |
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,879,918 (GRCm39) |
V2210D |
probably damaging |
Het |
Stard9 |
C |
T |
2: 120,533,237 (GRCm39) |
Q3165* |
probably null |
Het |
Tmem64 |
A |
T |
4: 15,283,159 (GRCm39) |
I319F |
probably damaging |
Het |
Vmn1r176 |
A |
T |
7: 23,534,808 (GRCm39) |
V115D |
probably damaging |
Het |
Vmn1r2 |
A |
G |
4: 3,172,623 (GRCm39) |
T181A |
probably benign |
Het |
Vmn2r2 |
T |
C |
3: 64,024,334 (GRCm39) |
E749G |
possibly damaging |
Het |
Vps35 |
G |
A |
8: 86,010,677 (GRCm39) |
T222I |
possibly damaging |
Het |
Zfp532 |
A |
G |
18: 65,757,485 (GRCm39) |
T473A |
probably damaging |
Het |
Zfyve16 |
A |
G |
13: 92,657,712 (GRCm39) |
V733A |
probably damaging |
Het |
Zranb1 |
T |
A |
7: 132,551,723 (GRCm39) |
S125T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCATGGTGACCTTGTTTC -3'
(R):5'- AGACCAGCAACCCTCTTCTG -3'
Sequencing Primer
(F):5'- CCCATGGTGACCTTGTTTCTAAAAGG -3'
(R):5'- TCTGTCCCTGCAACCCACAC -3'
|
Posted On |
2019-06-07 |