Incidental Mutation 'PIT4151001:Krba1'
ID 557021
Institutional Source Beutler Lab
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 # PIT4151001 (G1)
Quality Score 156.008
Status Not validated
Chromosome 6
Chromosomal Location 48372520-48396715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48379831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 9 (F9S)
Ref Sequence ENSEMBL: ENSMUSP00000110219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031815] [ENSMUST00000077093] [ENSMUST00000114571] [ENSMUST00000114572] [ENSMUST00000203371]
AlphaFold Q6NXZ1
Predicted Effect probably benign
Transcript: ENSMUST00000031815
SMART Domains Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810

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
SMART Domains Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810

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
SMART Domains Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810

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: ENSMUST00000114572
AA Change: F9S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: F9S

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 probably benign
Transcript: ENSMUST00000203371
SMART Domains Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810

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
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.4%
  • 10x: 84.6%
  • 20x: 72.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,930,670 (GRCm39) L1389P probably damaging Het
Acot10 C T 15: 20,666,684 (GRCm39) G19D probably damaging Het
Adam20 G A 8: 41,248,081 (GRCm39) V64I possibly damaging Het
Ak6 T A 13: 100,791,603 (GRCm39) D15E probably damaging Het
Atp1a2 A G 1: 172,118,288 (GRCm39) Y129H probably damaging Het
Caskin1 C T 17: 24,721,193 (GRCm39) T511I probably damaging Het
Casp9 C T 4: 141,521,259 (GRCm39) R32* probably null Het
Ccdc40 A G 11: 119,133,277 (GRCm39) E445G probably damaging Het
Cct8 T C 16: 87,284,545 (GRCm39) E273G probably damaging Het
Chd5 G A 4: 152,462,986 (GRCm39) V1380I probably damaging Het
Coro2b C T 9: 62,336,286 (GRCm39) G272D probably damaging Het
Cyp4a10 C A 4: 115,382,072 (GRCm39) H251Q probably damaging Het
Dgki A T 6: 37,040,916 (GRCm39) H298Q probably benign Het
Dnmt3b T G 2: 153,526,399 (GRCm39) probably null Het
Dzip1 A G 14: 119,160,200 (GRCm39) F3L probably damaging Het
Egf A G 3: 129,496,198 (GRCm39) S807P probably benign Het
Emc10 C T 7: 44,142,627 (GRCm39) R105H Het
Enthd1 T C 15: 80,336,937 (GRCm39) E499G probably damaging Het
Eps8l1 G A 7: 4,474,414 (GRCm39) S295N probably benign Het
Fer1l5 T A 1: 36,450,728 (GRCm39) M1242K probably benign Het
Gm3415 A G 5: 146,493,079 (GRCm39) R36G probably benign Het
Gm5797 C A 14: 7,330,318 (GRCm38) M114I possibly damaging Het
Gmppa A T 1: 75,418,468 (GRCm39) R284* probably null Het
Homer1 G C 13: 93,485,724 (GRCm39) K118N probably damaging Het
Ivl TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG 3: 92,479,608 (GRCm39) probably benign Het
Kcnc4 G A 3: 107,366,019 (GRCm39) A63V probably damaging Het
Kif11 T A 19: 37,373,045 (GRCm39) I88N probably damaging Het
Nckap1 A G 2: 80,350,714 (GRCm39) probably null Het
Nox4 A T 7: 86,954,097 (GRCm39) Y134F probably benign Het
Or4a79 T A 2: 89,552,237 (GRCm39) T73S probably benign Het
Or51f23c-ps1 T C 7: 102,431,465 (GRCm39) S261P probably benign Het
Or52e15 A G 7: 104,645,424 (GRCm39) L229P probably damaging Het
Or5m13b T A 2: 85,754,386 (GRCm39) M258K probably damaging Het
Or5m8 T C 2: 85,822,538 (GRCm39) C126R probably damaging Het
Or8k22 G T 2: 86,163,173 (GRCm39) H176N possibly damaging Het
Pcdh17 G T 14: 84,684,798 (GRCm39) V422L probably benign Het
Pcx T A 19: 4,653,157 (GRCm39) V275E probably damaging Het
Pde6h A T 6: 136,938,185 (GRCm39) M53L possibly damaging Het
Phactr3 A T 2: 177,975,861 (GRCm39) E535D probably damaging Het
Pkn3 C A 2: 29,980,539 (GRCm39) T810N probably damaging Het
Pnpla5 T C 15: 84,002,827 (GRCm39) E252G probably damaging Het
Pramel21 T A 4: 143,342,722 (GRCm39) C276* probably null Het
Psg17 A G 7: 18,548,530 (GRCm39) S414P probably benign Het
Pzp T A 6: 128,502,259 (GRCm39) Q30L probably benign Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Ret T C 6: 118,141,702 (GRCm39) D975G probably benign Het
Sarnp A G 10: 128,713,235 (GRCm39) I209V probably benign Het
Sorl1 A T 9: 41,879,918 (GRCm39) V2210D probably damaging Het
Stard9 C T 2: 120,533,237 (GRCm39) Q3165* probably null Het
Tmem64 A T 4: 15,283,159 (GRCm39) I319F probably damaging Het
Vmn1r176 A T 7: 23,534,808 (GRCm39) V115D probably damaging Het
Vmn1r2 A G 4: 3,172,623 (GRCm39) T181A probably benign Het
Vmn2r2 T C 3: 64,024,334 (GRCm39) E749G possibly damaging Het
Vps35 G A 8: 86,010,677 (GRCm39) T222I possibly damaging Het
Zfp532 A G 18: 65,757,485 (GRCm39) T473A probably damaging Het
Zfyve16 A G 13: 92,657,712 (GRCm39) V733A probably damaging Het
Zranb1 T A 7: 132,551,723 (GRCm39) S125T probably benign 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
IGL03380:Krba1 APN 6 48,380,387 (GRCm39) missense possibly damaging 0.53
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
Predicted Primers PCR Primer
(F):5'- ACCCATGGTGACCTTGTTTC -3'
(R):5'- AGACCAGCAACCCTCTTCTG -3'

Sequencing Primer
(F):5'- CCCATGGTGACCTTGTTTCTAAAAGG -3'
(R):5'- TCTGTCCCTGCAACCCACAC -3'
Posted On 2019-06-07