Incidental Mutation 'R6516:Krba1'
ID 520693
Institutional Source Beutler Lab
Gene Symbol Krba1
Ensembl Gene ENSMUSG00000042810
Gene Name KRAB-A domain containing 1
Synonyms A930040G15Rik
MMRRC Submission 044643-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6516 (G1)
Quality Score 197.009
Status Validated
Chromosome 6
Chromosomal Location 48372520-48396715 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 48390206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 656 (Q656*)
Ref Sequence ENSEMBL: ENSMUSP00000145256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031815] [ENSMUST00000077093] [ENSMUST00000114571] [ENSMUST00000114572] [ENSMUST00000203371]
AlphaFold Q6NXZ1
Predicted Effect probably null
Transcript: ENSMUST00000031815
AA Change: Q646*
SMART Domains Protein: ENSMUSP00000031815
Gene: ENSMUSG00000042810
AA Change: Q646*

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 null
Transcript: ENSMUST00000077093
AA Change: Q657*
SMART Domains Protein: ENSMUSP00000076345
Gene: ENSMUSG00000042810
AA Change: Q657*

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 null
Transcript: ENSMUST00000114571
AA Change: Q657*
SMART Domains Protein: ENSMUSP00000110218
Gene: ENSMUSG00000042810
AA Change: Q657*

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 null
Transcript: ENSMUST00000114572
AA Change: Q692*
SMART Domains Protein: ENSMUSP00000110219
Gene: ENSMUSG00000042810
AA Change: Q692*

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 probably null
Transcript: ENSMUST00000203371
AA Change: Q656*
SMART Domains Protein: ENSMUSP00000145256
Gene: ENSMUSG00000042810
AA Change: Q656*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930558K02Rik A T 1: 161,780,235 (GRCm39) V93E probably benign Het
Adam18 A G 8: 25,164,703 (GRCm39) L4P probably damaging Het
Adcy8 A T 15: 64,571,236 (GRCm39) Y1136N probably damaging Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankrd6 G A 4: 32,836,427 (GRCm39) R43W probably damaging Het
Ano8 G T 8: 71,934,424 (GRCm39) probably null Het
Arhgap31 A G 16: 38,429,766 (GRCm39) F370L possibly damaging Het
C7 A G 15: 5,086,563 (GRCm39) V26A probably damaging Het
Cimap1a G A 7: 140,428,718 (GRCm39) G128S probably damaging Het
Clec4a2 C A 6: 123,116,365 (GRCm39) Q153K probably damaging Het
Cyp2c67 T A 19: 39,605,873 (GRCm39) D341V probably damaging Het
Ddo T A 10: 40,507,741 (GRCm39) V46E probably damaging Het
Deup1 A C 9: 15,521,910 (GRCm39) M85R probably damaging Het
Dmxl2 A T 9: 54,323,960 (GRCm39) S1141R probably damaging Het
Dnah2 A G 11: 69,356,212 (GRCm39) F2147L probably benign Het
Dock10 T C 1: 80,518,178 (GRCm39) E1298G probably damaging Het
Dock4 T A 12: 40,781,898 (GRCm39) V701E possibly damaging Het
Dthd1 A T 5: 62,996,607 (GRCm39) K447N probably benign Het
Eno2 G T 6: 124,738,672 (GRCm39) probably null Het
Fastkd5 T A 2: 130,456,221 (GRCm39) T790S possibly damaging Het
Fer1l4 C T 2: 155,877,119 (GRCm39) V1139M probably damaging Het
Gpbp1 A T 13: 111,589,636 (GRCm39) H111Q probably benign Het
Grk3 A T 5: 113,109,415 (GRCm39) probably benign Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kcnc2 A G 10: 112,297,905 (GRCm39) T610A probably benign Het
Kcnh1 T A 1: 192,101,089 (GRCm39) D560E possibly damaging Het
Klc4 A T 17: 46,953,181 (GRCm39) N116K probably damaging Het
Mchr1 A G 15: 81,122,069 (GRCm39) Y273C probably damaging Het
Myh15 T A 16: 48,957,996 (GRCm39) C938S probably benign Het
Nutm1 T C 2: 112,081,562 (GRCm39) E367G probably damaging Het
Or10a3n A T 7: 108,492,972 (GRCm39) I214K probably damaging Het
Or4e2 A T 14: 52,688,586 (GRCm39) T239S probably damaging Het
Or5w18 A T 2: 87,633,114 (GRCm39) Y127F possibly damaging Het
Or8b48 A G 9: 38,492,768 (GRCm39) N65S probably damaging Het
Pikfyve G T 1: 65,304,940 (GRCm39) M1697I probably benign Het
Plcd1 A G 9: 118,905,271 (GRCm39) S147P probably damaging Het
Plin3 G A 17: 56,593,223 (GRCm39) P113L probably damaging Het
Pum3 C A 19: 27,403,408 (GRCm39) S31I probably benign Het
Robo1 T C 16: 72,821,241 (GRCm39) V1327A probably benign Het
Rpl15-ps6 A G 15: 52,341,200 (GRCm39) noncoding transcript Het
Rpl34 G A 3: 130,522,716 (GRCm39) P50L probably benign Het
Scnn1b T C 7: 121,511,335 (GRCm39) S341P probably damaging Het
Sh3bp5 A T 14: 31,097,629 (GRCm39) M362K possibly damaging Het
Slc24a5 A G 2: 124,930,027 (GRCm39) T443A probably benign Het
Slc25a12 T C 2: 71,154,427 (GRCm39) Y81C probably damaging Het
Slc43a3 A G 2: 84,788,105 (GRCm39) T496A probably benign Het
Smap2 C T 4: 120,840,303 (GRCm39) probably null Het
Sptbn5 T A 2: 119,878,431 (GRCm39) probably benign Het
Taar5 A G 10: 23,847,564 (GRCm39) S321G possibly damaging Het
Tbx21 T C 11: 96,990,782 (GRCm39) I299V possibly damaging Het
Tcerg1 T C 18: 42,663,957 (GRCm39) probably null Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Tmem176a T G 6: 48,821,002 (GRCm39) probably null Het
Tmem236 T C 2: 14,200,791 (GRCm39) S119P probably benign Het
Tmprss11a C T 5: 86,567,987 (GRCm39) V247M probably damaging Het
Tnks1bp1 T C 2: 84,901,071 (GRCm39) S1593P probably damaging Het
Ttc9b T A 7: 27,355,412 (GRCm39) D227E probably benign Het
Usp33 A C 3: 152,079,053 (GRCm39) Q435P probably benign Het
Vti1a C T 19: 55,369,390 (GRCm39) A94V probably damaging Het
Wdr3 A G 3: 100,052,992 (GRCm39) Y587H probably damaging Het
Wwc1 G A 11: 35,758,129 (GRCm39) A739V probably benign Het
Zfp628 C G 7: 4,923,201 (GRCm39) Y474* probably null Het
Zfp820 A T 17: 22,038,354 (GRCm39) C325S 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
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
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'- CCAGTCGGTGAACTCTTCTC -3'
(R):5'- TCCGCAGAACAGCTATTGC -3'

Sequencing Primer
(F):5'- TTGTTTAGAGACAGCCACCATGC -3'
(R):5'- CTGTTGACTCTTGGAGATGCGC -3'
Posted On 2018-06-06