Incidental Mutation 'R1620:Krbox5'
ID 174630
Institutional Source Beutler Lab
Gene Symbol Krbox5
Ensembl Gene ENSMUSG00000058246
Gene Name KRAB box domain containing 5
Synonyms Gm10037, EG328280
MMRRC Submission 039657-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R1620 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 67979225-67992154 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 67991109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060609] [ENSMUST00000221266] [ENSMUST00000221620] [ENSMUST00000222626] [ENSMUST00000231606]
AlphaFold E9PX85
Predicted Effect probably benign
Transcript: ENSMUST00000060609
SMART Domains Protein: ENSMUSP00000051123
Gene: ENSMUSG00000058246

DomainStartEndE-ValueType
KRAB 2 61 1.42e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221266
Predicted Effect probably benign
Transcript: ENSMUST00000221620
Predicted Effect probably benign
Transcript: ENSMUST00000222626
Predicted Effect probably benign
Transcript: ENSMUST00000231606
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
Validation Efficiency 95% (58/61)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2c2 T C 8: 120,475,865 (GRCm39) V586A probably benign Het
Atp8a2 T A 14: 60,028,632 (GRCm39) H945L probably benign Het
Bfar G T 16: 13,506,710 (GRCm39) V187F probably damaging Het
Capn2 A T 1: 182,344,702 (GRCm39) I73N probably damaging Het
Cfc1 C A 1: 34,575,554 (GRCm39) A76E possibly damaging Het
Chl1 T C 6: 103,667,203 (GRCm39) F398L probably benign Het
Cyp2u1 A G 3: 131,096,350 (GRCm39) S143P probably damaging Het
Dlgap4 T A 2: 156,591,056 (GRCm39) Y57* probably null Het
Epha4 T A 1: 77,351,563 (GRCm39) R897S probably benign Het
Fscn2 A T 11: 120,257,511 (GRCm39) T291S probably damaging Het
Gga1 G A 15: 78,772,670 (GRCm39) S267N probably damaging Het
Gigyf2 A G 1: 87,376,850 (GRCm39) T1287A probably damaging Het
Gm10845 C A 14: 80,100,669 (GRCm39) noncoding transcript Het
Gm11559 T A 11: 99,755,882 (GRCm39) L177Q unknown Het
Itga9 A G 9: 118,672,570 (GRCm39) T195A probably benign Het
Lama1 A G 17: 68,074,028 (GRCm39) T935A probably benign Het
Lrrk1 G T 7: 66,031,286 (GRCm39) T4K probably benign Het
Lrrn1 G A 6: 107,545,327 (GRCm39) C375Y probably damaging Het
Maip1 T C 1: 57,449,144 (GRCm39) probably null Het
Mecom A T 3: 30,041,237 (GRCm39) I119N probably damaging Het
Mrpl2 G A 17: 46,958,425 (GRCm39) R69H probably benign Het
Muc16 A G 9: 18,421,773 (GRCm39) V8246A possibly damaging Het
Myh3 C T 11: 66,979,562 (GRCm39) probably benign Het
Myocd A G 11: 65,087,220 (GRCm39) S236P probably benign Het
Myot A T 18: 44,470,125 (GRCm39) Q34L possibly damaging Het
Nlrp5 A G 7: 23,118,064 (GRCm39) D596G probably damaging Het
Npas2 T C 1: 39,372,993 (GRCm39) S415P possibly damaging Het
Obox2 A G 7: 15,130,966 (GRCm39) E66G probably benign Het
Or4f59 G T 2: 111,872,591 (GRCm39) T262K probably benign Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Phactr1 G T 13: 43,248,373 (GRCm39) V356L probably damaging Het
Pparg A T 6: 115,450,242 (GRCm39) I414L probably benign Het
Rapgef6 A T 11: 54,517,420 (GRCm39) I371L possibly damaging Het
Rc3h1 T C 1: 160,782,543 (GRCm39) V674A probably benign Het
Rps6ka4 T C 19: 6,815,517 (GRCm39) Y159C probably damaging Het
Sf3b6 T C 12: 4,876,808 (GRCm39) I67T possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spata17 T C 1: 186,915,412 (GRCm39) probably benign Het
Ston1 A G 17: 88,943,244 (GRCm39) T217A probably benign Het
Tank A G 2: 61,480,442 (GRCm39) D326G possibly damaging Het
Tbc1d9 T A 8: 83,976,224 (GRCm39) N594K probably damaging Het
Tfpi2 T A 6: 3,965,507 (GRCm39) T102S probably benign Het
Ulk4 T G 9: 121,033,871 (GRCm39) E589D possibly damaging Het
Usp40 A T 1: 87,921,947 (GRCm39) H305Q probably damaging Het
Vmn1r170 A G 7: 23,305,754 (GRCm39) K52R probably benign Het
Vmn1r194 A G 13: 22,429,133 (GRCm39) D250G probably damaging Het
Wdr6 A T 9: 108,451,854 (GRCm39) D676E possibly damaging Het
Xirp2 T A 2: 67,341,179 (GRCm39) V1140E probably damaging Het
Other mutations in Krbox5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0308:Krbox5 UTSW 13 67,991,232 (GRCm39) intron probably benign
R1777:Krbox5 UTSW 13 67,981,984 (GRCm39) missense probably benign 0.28
R6818:Krbox5 UTSW 13 67,981,986 (GRCm39) missense possibly damaging 0.86
R7136:Krbox5 UTSW 13 67,991,111 (GRCm39) splice site probably null
R9447:Krbox5 UTSW 13 67,981,953 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCCTGGAACAGACAGAGCAGATG -3'
(R):5'- AGCACCTGGACTTCTTTCTTGGGC -3'

Sequencing Primer
(F):5'- GAGGATTTAGCCCATGAATCAC -3'
(R):5'- CTTGGGCACAGTAGAGTTGATAC -3'
Posted On 2014-04-24