Incidental Mutation 'R4619:Krba1'
| ID |
345165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krba1
|
| Ensembl Gene |
ENSMUSG00000042810 |
| Gene Name |
KRAB-A domain containing 1 |
| Synonyms |
A930040G15Rik |
| MMRRC Submission |
041885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4619 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48372520-48396715 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 48383282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 4
(R4*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031815]
[ENSMUST00000077093]
[ENSMUST00000114571]
[ENSMUST00000114572]
[ENSMUST00000203371]
|
| AlphaFold |
Q6NXZ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031815
AA Change: S226L
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: S226L
| 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: S171L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: S171L
| 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: S171L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: S171L
| 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: S206L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: S206L
| 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 |
probably null
Transcript: ENSMUST00000132271
AA Change: R4*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148697
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203371
AA Change: S170L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: S170L
| 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: ENSMUST00000154536
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,775,520 (GRCm39) |
V1570I |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,473,106 (GRCm39) |
R35G |
probably damaging |
Het |
| Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,361,858 (GRCm39) |
T731I |
possibly damaging |
Het |
| Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,587,612 (GRCm39) |
D179N |
probably damaging |
Het |
| Cntnap5c |
G |
T |
17: 58,717,263 (GRCm39) |
V1282L |
probably benign |
Het |
| Crocc2 |
G |
A |
1: 93,141,372 (GRCm39) |
R1175H |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,064,836 (GRCm39) |
D349G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,605,278 (GRCm39) |
I2372V |
probably benign |
Het |
| Fer1l4 |
A |
T |
2: 155,889,007 (GRCm39) |
W389R |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,984,036 (GRCm39) |
T1297A |
unknown |
Het |
| Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
| Gm5591 |
G |
A |
7: 38,220,072 (GRCm39) |
S267L |
probably benign |
Het |
| Gzmk |
A |
G |
13: 113,309,657 (GRCm39) |
V92A |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,273,884 (GRCm39) |
R2680W |
probably damaging |
Het |
| Insyn2a |
A |
G |
7: 134,520,270 (GRCm39) |
Y87H |
probably damaging |
Het |
| Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
| Kcnk7 |
A |
C |
19: 5,756,463 (GRCm39) |
I230L |
probably benign |
Het |
| Kif3b |
C |
T |
2: 153,158,594 (GRCm39) |
R132* |
probably null |
Het |
| Klra5 |
T |
C |
6: 129,885,776 (GRCm39) |
S128G |
probably benign |
Het |
| Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
| Lss |
A |
G |
10: 76,372,089 (GRCm39) |
D148G |
probably benign |
Het |
| Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
| Mipep |
T |
C |
14: 61,140,865 (GRCm39) |
C566R |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,069,254 (GRCm39) |
|
probably benign |
Het |
| Ndufa9 |
C |
T |
6: 126,804,498 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
G |
A |
19: 46,071,959 (GRCm39) |
G583D |
probably damaging |
Het |
| Nucb2 |
T |
C |
7: 116,127,059 (GRCm39) |
|
probably null |
Het |
| Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
| Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
| Or5p63 |
A |
T |
7: 107,811,301 (GRCm39) |
I145N |
possibly damaging |
Het |
| Pank4 |
C |
A |
4: 155,061,076 (GRCm39) |
D508E |
probably benign |
Het |
| Phb1 |
T |
A |
11: 95,562,416 (GRCm39) |
|
probably benign |
Het |
| Pign |
T |
A |
1: 105,449,715 (GRCm39) |
|
probably benign |
Het |
| Plec |
T |
C |
15: 76,076,382 (GRCm39) |
K349E |
probably benign |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,743 (GRCm39) |
V9E |
possibly damaging |
Het |
| Rap1gap |
T |
A |
4: 137,443,422 (GRCm39) |
V130D |
probably damaging |
Het |
| Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
| Serpina3f |
T |
C |
12: 104,183,549 (GRCm39) |
I137T |
possibly damaging |
Het |
| Slc46a3 |
T |
A |
5: 147,823,540 (GRCm39) |
K101* |
probably null |
Het |
| Snph |
G |
A |
2: 151,436,434 (GRCm39) |
Q96* |
probably null |
Het |
| Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
| Srbd1 |
A |
T |
17: 86,416,693 (GRCm39) |
F488L |
probably benign |
Het |
| Ssc5d |
A |
T |
7: 4,932,524 (GRCm39) |
H396L |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,856,876 (GRCm39) |
R42S |
probably damaging |
Het |
| Taf1a |
T |
A |
1: 183,181,752 (GRCm39) |
|
probably benign |
Het |
| Thoc5 |
T |
A |
11: 4,876,218 (GRCm39) |
M609K |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,568,617 (GRCm39) |
I1588F |
probably damaging |
Het |
| Tmcc1 |
C |
T |
6: 116,020,247 (GRCm39) |
V402I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,818,358 (GRCm39) |
D524G |
probably damaging |
Het |
| Trbv31 |
T |
C |
6: 41,534,901 (GRCm39) |
I21V |
probably benign |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,398 (GRCm39) |
T233S |
possibly damaging |
Het |
| Vmn1r74 |
G |
C |
7: 11,581,403 (GRCm39) |
Q234H |
probably damaging |
Het |
| Vsx1 |
A |
T |
2: 150,530,529 (GRCm39) |
S118T |
probably benign |
Het |
| Wnt9b |
G |
A |
11: 103,621,949 (GRCm39) |
T236I |
probably benign |
Het |
| Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
| Zc3hc1 |
G |
A |
6: 30,387,523 (GRCm39) |
T52I |
probably benign |
Het |
| Zfp558 |
T |
A |
9: 18,367,577 (GRCm39) |
N404Y |
possibly damaging |
Het |
| Zfp735 |
A |
T |
11: 73,602,031 (GRCm39) |
D325V |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,879 (GRCm39) |
M96K |
probably 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 |
|
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 |
|
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'- AAAGAGTCTGGAAGCATTTGGC -3'
(R):5'- ACGTCATGGAGTTCAGTTGG -3'
Sequencing Primer
(F):5'- GCATTTGGCATGAACCAGTC -3'
(R):5'- GGTGAGTGACATGACCTTCAC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation