Incidental Mutation 'IGL03380:Krba1'
ID 420662
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 # IGL03380
Quality Score
Status
Chromosome 6
Chromosomal Location 48372520-48396715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48380387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 37 (H37R)
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: H93R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: H93R

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 benign
Transcript: ENSMUST00000077093
AA Change: H37R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: H37R

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 benign
Transcript: ENSMUST00000114571
AA Change: H37R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: H37R

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 benign
Transcript: ENSMUST00000114572
AA Change: H72R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: H72R

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: ENSMUST00000127980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148697
Predicted Effect possibly damaging
Transcript: ENSMUST00000203371
AA Change: H37R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: H37R

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: ENSMUST00000204308
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C 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
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
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