Incidental Mutation 'R7003:Krba1'
| ID |
544661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krba1
|
| Ensembl Gene |
ENSMUSG00000042810 |
| Gene Name |
KRAB-A domain containing 1 |
| Synonyms |
A930040G15Rik |
| MMRRC Submission |
045108-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48390014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 592
(T592A)
|
| 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: T582A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: T582A
| 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: T593A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: T593A
| 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: T593A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: T593A
| 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: T628A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: T628A
| 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 |
possibly damaging
Transcript: ENSMUST00000203371
AA Change: T592A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: T592A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,490 (GRCm39) |
I275N |
probably damaging |
Het |
| Actr3b |
A |
C |
5: 26,003,461 (GRCm39) |
Y21S |
probably damaging |
Het |
| Adam6b |
C |
T |
12: 113,453,662 (GRCm39) |
Q160* |
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,670,223 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,504,514 (GRCm39) |
N300D |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,082,416 (GRCm39) |
D170G |
possibly damaging |
Het |
| Amhr2 |
A |
G |
15: 102,354,768 (GRCm39) |
N40S |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,209,109 (GRCm39) |
N767S |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,274,839 (GRCm39) |
I358T |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,620,508 (GRCm39) |
S732P |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,610,837 (GRCm39) |
Y327C |
possibly damaging |
Het |
| Bcr |
T |
C |
10: 74,897,393 (GRCm39) |
V179A |
probably benign |
Het |
| Cep104 |
T |
C |
4: 154,078,018 (GRCm39) |
L642P |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,486,513 (GRCm39) |
S1302R |
possibly damaging |
Het |
| Cmip |
T |
C |
8: 118,111,727 (GRCm39) |
F153L |
probably benign |
Het |
| Cplane1 |
T |
G |
15: 8,258,246 (GRCm39) |
L2164R |
probably damaging |
Het |
| D630039A03Rik |
T |
C |
4: 57,910,521 (GRCm39) |
D97G |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,236,899 (GRCm39) |
T396S |
probably benign |
Het |
| Dsel |
C |
T |
1: 111,788,025 (GRCm39) |
V837I |
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,810,695 (GRCm39) |
T926I |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gpr155 |
A |
G |
2: 73,173,961 (GRCm39) |
I816T |
probably damaging |
Het |
| Hpn |
C |
T |
7: 30,810,367 (GRCm39) |
|
probably benign |
Het |
| Inpp5e |
A |
G |
2: 26,287,877 (GRCm39) |
S640P |
probably benign |
Het |
| Irs3 |
C |
T |
5: 137,643,539 (GRCm39) |
V82I |
probably benign |
Het |
| Kif16b |
A |
C |
2: 142,600,749 (GRCm39) |
D461E |
possibly damaging |
Het |
| Lgsn |
T |
A |
1: 31,243,024 (GRCm39) |
S369T |
possibly damaging |
Het |
| Lrrc4b |
C |
T |
7: 44,094,580 (GRCm39) |
P83S |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,319 (GRCm39) |
S39P |
possibly damaging |
Het |
| Neil3 |
T |
C |
8: 54,054,001 (GRCm39) |
T343A |
possibly damaging |
Het |
| Nt5e |
A |
G |
9: 88,246,805 (GRCm39) |
Y347C |
probably damaging |
Het |
| Or1j1 |
A |
G |
2: 36,703,047 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or2d3b |
A |
T |
7: 106,514,319 (GRCm39) |
T305S |
probably benign |
Het |
| Or2f2 |
C |
T |
6: 42,767,399 (GRCm39) |
T142I |
probably benign |
Het |
| Or8g26 |
A |
T |
9: 39,096,239 (GRCm39) |
Y255F |
probably benign |
Het |
| P2rx5 |
T |
C |
11: 73,058,800 (GRCm39) |
|
probably null |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,768,734 (GRCm39) |
C406R |
possibly damaging |
Het |
| Plod3 |
T |
A |
5: 137,018,498 (GRCm39) |
N245K |
probably damaging |
Het |
| Polr3c |
G |
T |
3: 96,630,954 (GRCm39) |
H155Q |
possibly damaging |
Het |
| Psap |
T |
A |
10: 60,135,276 (GRCm39) |
C317S |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,967,001 (GRCm39) |
I97V |
probably benign |
Het |
| Rnf123 |
T |
A |
9: 107,940,882 (GRCm39) |
|
probably null |
Het |
| Rnf19a |
G |
A |
15: 36,254,650 (GRCm39) |
R303* |
probably null |
Het |
| Sdk1 |
G |
A |
5: 142,082,489 (GRCm39) |
V1036I |
probably benign |
Het |
| Shc3 |
T |
A |
13: 51,620,588 (GRCm39) |
Y146F |
probably benign |
Het |
| Skint6 |
A |
G |
4: 112,963,109 (GRCm39) |
Y441H |
probably benign |
Het |
| Slc7a12 |
T |
C |
3: 14,570,580 (GRCm39) |
I173T |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,189,302 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tarm1 |
A |
T |
7: 3,545,939 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,693,479 (GRCm39) |
Y1817C |
probably damaging |
Het |
| Ttc9c |
A |
T |
19: 8,795,904 (GRCm39) |
L45Q |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,926,188 (GRCm39) |
T322I |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,439,430 (GRCm39) |
V669E |
probably damaging |
Het |
| Vmn1r225 |
A |
G |
17: 20,723,416 (GRCm39) |
M286V |
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,224,172 (GRCm39) |
K816E |
possibly damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,188 (GRCm39) |
M1T |
probably null |
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 |
|
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 |
|
|
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'- TCGGGAGTTCCACATCTTCCAG -3'
(R):5'- CAGGCTCTGGTCTTAGGTCTTC -3'
Sequencing Primer
(F):5'- TCCAGGAACTTCCAGAGAGTTCTG -3'
(R):5'- AGGTCTTCTCCATCAGAGCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation