Incidental Mutation 'IGL02333:Krba1'
ID 288768
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: 0.063) question?
Stock # IGL02333
Quality Score
Status
Chromosome 6
Chromosomal Location 48372520-48396715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48390021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 595 (T595I)
Ref Sequence ENSEMBL: ENSMUSP00000110218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031815] [ENSMUST00000077093] [ENSMUST00000114571] [ENSMUST00000114572] [ENSMUST00000203371]
AlphaFold Q6NXZ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000031815
AA Change: T584I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: T584I

DomainStartEndE-ValueType
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: T595I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: T595I

DomainStartEndE-ValueType
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: T595I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: T595I

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000114572
AA Change: T630I

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: T630I

DomainStartEndE-ValueType
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: T594I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: T594I

DomainStartEndE-ValueType
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,862,273 (GRCm39) V276I probably benign Het
Acss2 T A 2: 155,397,804 (GRCm39) W289R probably damaging Het
Alpk2 A G 18: 65,482,551 (GRCm39) S19P probably damaging Het
Ano3 T C 2: 110,527,544 (GRCm39) probably benign Het
Atxn1 G A 13: 45,720,680 (GRCm39) S405F probably damaging Het
Atxn2 A G 5: 121,919,450 (GRCm39) Y386C probably damaging Het
Bach2 T A 4: 32,575,334 (GRCm39) L643* probably null Het
Ccl22 T A 8: 95,476,507 (GRCm39) L91Q probably damaging Het
Cdc40 A G 10: 40,743,855 (GRCm39) Y81H probably benign Het
Col5a3 C A 9: 20,710,602 (GRCm39) R549M unknown Het
Eif3e A T 15: 43,129,533 (GRCm39) N198K probably benign Het
Emp2 A G 16: 10,102,375 (GRCm39) Y146H probably damaging Het
Impg1 G A 9: 80,322,808 (GRCm39) L66F possibly damaging Het
Itsn1 A G 16: 91,617,564 (GRCm39) probably benign Het
Khdrbs3 T C 15: 68,921,243 (GRCm39) Y187H probably damaging Het
Klhdc7a T A 4: 139,694,467 (GRCm39) H160L probably benign Het
Klhl2 G A 8: 65,212,784 (GRCm39) R252W probably damaging Het
Myo9b G T 8: 71,811,637 (GRCm39) D1887Y possibly damaging Het
Olfm4 C T 14: 80,259,210 (GRCm39) T453I probably damaging Het
Sin3a A G 9: 57,014,843 (GRCm39) N688S possibly damaging Het
Slc47a1 A G 11: 61,260,950 (GRCm39) V150A probably damaging Het
Sptbn4 A G 7: 27,063,724 (GRCm39) L2234P probably damaging Het
Trpm4 C T 7: 44,971,539 (GRCm39) V166M possibly damaging Het
Usp54 A T 14: 20,639,463 (GRCm39) F156L probably damaging Het
Vmn2r32 A T 7: 7,467,143 (GRCm39) F795Y probably damaging Het
Other mutations in Krba1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2015-04-16