Incidental Mutation 'IGL03069:Krba1'
| ID |
409838 |
| 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 # |
IGL03069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48391483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 755
(T755A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031815]
[ENSMUST00000077093]
[ENSMUST00000114571]
[ENSMUST00000114572]
[ENSMUST00000203371]
|
| AlphaFold |
Q6NXZ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031815
AA Change: T745A
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: T745A
| 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: T756A
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: T756A
| 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: T756A
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: T756A
| 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: T791A
PolyPhen 2
Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: T791A
| 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 |
possibly damaging
Transcript: ENSMUST00000203371
AA Change: T755A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: T755A
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
G |
8: 13,607,704 (GRCm39) |
|
probably null |
Het |
| Acp3 |
T |
C |
9: 104,197,204 (GRCm39) |
E145G |
possibly damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,477,743 (GRCm39) |
K42* |
probably null |
Het |
| Arsg |
A |
T |
11: 109,454,082 (GRCm39) |
K429N |
probably damaging |
Het |
| Bsn |
G |
A |
9: 107,991,462 (GRCm39) |
T1430I |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,356,582 (GRCm39) |
D36G |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,376,767 (GRCm39) |
S1403P |
probably damaging |
Het |
| Cdca2 |
A |
G |
14: 67,952,385 (GRCm39) |
|
probably benign |
Het |
| Cfh |
C |
A |
1: 140,026,793 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
C |
T |
19: 39,869,537 (GRCm39) |
G161S |
probably benign |
Het |
| Dennd4c |
C |
A |
4: 86,692,674 (GRCm39) |
Y61* |
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,009,555 (GRCm39) |
S1075P |
probably damaging |
Het |
| Dpp7 |
T |
A |
2: 25,245,735 (GRCm39) |
|
probably null |
Het |
| Dtd1 |
T |
A |
2: 144,588,981 (GRCm39) |
|
probably benign |
Het |
| Dtl |
C |
A |
1: 191,289,008 (GRCm39) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,390,457 (GRCm39) |
D344G |
probably damaging |
Het |
| Hsp90ab1 |
A |
T |
17: 45,879,954 (GRCm39) |
C159S |
possibly damaging |
Het |
| Kcnip2 |
T |
C |
19: 45,784,710 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
C |
T |
12: 69,739,173 (GRCm39) |
V433I |
probably benign |
Het |
| Lamc1 |
A |
T |
1: 153,115,127 (GRCm39) |
L1050I |
probably damaging |
Het |
| Lgals4 |
A |
T |
7: 28,540,343 (GRCm39) |
I213L |
probably benign |
Het |
| Lysmd1 |
A |
G |
3: 95,044,945 (GRCm39) |
I64V |
probably damaging |
Het |
| Mfsd4b4 |
A |
C |
10: 39,768,311 (GRCm39) |
C261G |
probably benign |
Het |
| Mrgprb3 |
T |
A |
7: 48,293,198 (GRCm39) |
I118F |
possibly damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,704,501 (GRCm39) |
Y137* |
probably null |
Het |
| Ofcc1 |
A |
T |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
| Omd |
A |
T |
13: 49,745,870 (GRCm39) |
|
probably benign |
Het |
| Or5d46 |
C |
T |
2: 88,170,643 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
T |
9: 38,906,728 (GRCm39) |
M1K |
probably null |
Het |
| Polr3a |
T |
A |
14: 24,511,808 (GRCm39) |
D916V |
probably damaging |
Het |
| Prpf38a |
T |
C |
4: 108,432,628 (GRCm39) |
Y117C |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,619,029 (GRCm39) |
G771D |
probably benign |
Het |
| Smarca4 |
C |
T |
9: 21,547,132 (GRCm39) |
T219I |
probably benign |
Het |
| Snx1 |
T |
A |
9: 66,001,906 (GRCm39) |
I306F |
probably benign |
Het |
| Snx31 |
T |
A |
15: 36,525,749 (GRCm39) |
R317* |
probably null |
Het |
| Sorl1 |
T |
C |
9: 41,902,722 (GRCm39) |
T1612A |
probably benign |
Het |
| Spag1 |
G |
T |
15: 36,224,245 (GRCm39) |
|
probably benign |
Het |
| Stambp |
A |
G |
6: 83,538,914 (GRCm39) |
F162S |
probably damaging |
Het |
| Tkfc |
T |
A |
19: 10,576,518 (GRCm39) |
M122L |
probably benign |
Het |
| Tnni3k |
T |
A |
3: 154,647,242 (GRCm39) |
|
probably null |
Het |
| Trim56 |
T |
C |
5: 137,142,616 (GRCm39) |
Q300R |
probably damaging |
Het |
| Ttc24 |
T |
A |
3: 87,977,408 (GRCm39) |
T113S |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,339,876 (GRCm39) |
T706S |
possibly damaging |
Het |
| Yipf5 |
T |
A |
18: 40,339,290 (GRCm39) |
|
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,695 (GRCm39) |
S486P |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,369,100 (GRCm39) |
S1676P |
probably damaging |
Het |
| Znrd2 |
G |
T |
19: 5,780,450 (GRCm39) |
L183I |
possibly 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 |
|
IGL02681:Krba1
|
APN |
6 |
48,381,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation