Incidental Mutation 'R5514:Krba1'
| ID |
440231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krba1
|
| Ensembl Gene |
ENSMUSG00000042810 |
| Gene Name |
KRAB-A domain containing 1 |
| Synonyms |
A930040G15Rik |
| MMRRC Submission |
043074-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R5514 (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 G
at 48390429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 736
(L736R)
|
| 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: L690R
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: L690R
| 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: L701R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: L701R
| 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: L701R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: L701R
| 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: L736R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: L736R
| 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 |
possibly damaging
Transcript: ENSMUST00000203371
AA Change: L700R
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: L700R
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
T |
C |
12: 21,390,520 (GRCm39) |
S382G |
probably damaging |
Het |
| Agr2 |
G |
A |
12: 36,046,090 (GRCm39) |
V74I |
probably benign |
Het |
| Aldh3a1 |
T |
C |
11: 61,108,867 (GRCm39) |
S423P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 102,986,488 (GRCm39) |
H56Y |
possibly damaging |
Het |
| Arhgef2 |
C |
A |
3: 88,550,304 (GRCm39) |
P670T |
probably benign |
Het |
| Blk |
T |
G |
14: 63,615,930 (GRCm39) |
D333A |
probably damaging |
Het |
| Bmi1 |
T |
C |
2: 18,686,714 (GRCm39) |
I31T |
probably damaging |
Het |
| Cacna1d |
G |
A |
14: 30,072,790 (GRCm39) |
Q62* |
probably null |
Het |
| Ccdc88c |
A |
G |
12: 100,879,698 (GRCm39) |
S1801P |
probably damaging |
Het |
| Cdkal1 |
C |
T |
13: 29,961,270 (GRCm39) |
A100T |
probably damaging |
Het |
| Cfap251 |
G |
T |
5: 123,425,829 (GRCm39) |
|
probably null |
Het |
| Chst4 |
G |
T |
8: 110,756,606 (GRCm39) |
S419Y |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,649,844 (GRCm39) |
I680T |
probably damaging |
Het |
| Ddx55 |
T |
C |
5: 124,694,875 (GRCm39) |
V101A |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,411,091 (GRCm39) |
E451V |
probably damaging |
Het |
| Dffa |
T |
A |
4: 149,190,772 (GRCm39) |
|
probably null |
Het |
| Dgkd |
A |
G |
1: 87,861,832 (GRCm39) |
R796G |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,323,605 (GRCm39) |
M614L |
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,215,555 (GRCm39) |
Q52K |
probably damaging |
Het |
| Fcamr |
T |
A |
1: 130,741,793 (GRCm39) |
L522Q |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,258,858 (GRCm39) |
Y468H |
probably damaging |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gm4787 |
A |
G |
12: 81,425,102 (GRCm39) |
V352A |
possibly damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,336,802 (GRCm39) |
Q13R |
probably benign |
Het |
| Itpkb |
G |
A |
1: 180,241,474 (GRCm39) |
V715M |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,053,928 (GRCm39) |
S263T |
probably damaging |
Het |
| Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,630,901 (GRCm39) |
V2286E |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,341,462 (GRCm39) |
V1100E |
possibly damaging |
Het |
| Myo5a |
G |
A |
9: 75,061,048 (GRCm39) |
G518D |
probably damaging |
Het |
| Nalcn |
A |
T |
14: 123,521,123 (GRCm39) |
I1594N |
probably benign |
Het |
| Nav1 |
C |
G |
1: 135,398,299 (GRCm39) |
G761A |
probably benign |
Het |
| Ncoa2 |
A |
T |
1: 13,251,445 (GRCm39) |
L276H |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,245,051 (GRCm39) |
Y57H |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,299,847 (GRCm39) |
Y807C |
probably damaging |
Het |
| Nid2 |
A |
T |
14: 19,852,535 (GRCm39) |
Q1081L |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 31,827,189 (GRCm39) |
I134F |
probably damaging |
Het |
| Nmu |
A |
C |
5: 76,497,979 (GRCm39) |
S69A |
probably damaging |
Het |
| Or4c15b |
A |
T |
2: 89,112,817 (GRCm39) |
I220N |
probably damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,225 (GRCm39) |
I151V |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,153,086 (GRCm39) |
R886G |
probably damaging |
Het |
| Pde6b |
G |
T |
5: 108,571,317 (GRCm39) |
Q423H |
probably benign |
Het |
| Pip5k1b |
A |
T |
19: 24,327,505 (GRCm39) |
D450E |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,275 (GRCm39) |
|
probably null |
Het |
| Pnpt1 |
T |
C |
11: 29,103,246 (GRCm39) |
S504P |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,175,797 (GRCm39) |
D312E |
probably damaging |
Het |
| Ppp1r1b |
T |
C |
11: 98,246,228 (GRCm39) |
L70P |
probably damaging |
Het |
| Prr5 |
C |
A |
15: 84,587,096 (GRCm39) |
P282Q |
probably benign |
Het |
| Reln |
A |
T |
5: 22,176,883 (GRCm39) |
W1928R |
possibly damaging |
Het |
| Sacm1l |
A |
T |
9: 123,415,419 (GRCm39) |
R465* |
probably null |
Het |
| Sema7a |
A |
G |
9: 57,863,046 (GRCm39) |
Y239C |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,044,054 (GRCm39) |
T3531A |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 65,004,609 (GRCm39) |
W19R |
probably damaging |
Het |
| Tmc2 |
T |
A |
2: 130,083,564 (GRCm39) |
M507K |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,095,795 (GRCm39) |
Y1241H |
probably damaging |
Het |
| Upp1 |
C |
T |
11: 9,081,771 (GRCm39) |
P103S |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,221,624 (GRCm39) |
E663G |
probably damaging |
Het |
| Vmn2r68 |
G |
A |
7: 84,886,767 (GRCm39) |
T49I |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,335,465 (GRCm39) |
M95L |
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 |
|
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 |
|
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'- TTTGCGGTGCCTGTCAGTAC -3'
(R):5'- TCAGTGGTTACCGAGCTCTC -3'
Sequencing Primer
(F):5'- ACTCTGATGCTAGCTTACTTATGACG -3'
(R):5'- GGTTACCGAGCTCTCCTAACAGAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation