Incidental Mutation 'RF027:Kri1'
ID 604194
Institutional Source Beutler Lab
Gene Symbol Kri1
Ensembl Gene ENSMUSG00000035047
Gene Name KRI1 homolog
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF027 (G1)
Quality Score 138.467
Status Not validated
Chromosome 9
Chromosomal Location 21184753-21199265 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CTCCTCCT to C at 21192364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038671] [ENSMUST00000065005] [ENSMUST00000184326]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000038671
SMART Domains Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047

DomainStartEndE-ValueType
low complexity region 20 34 N/A INTRINSIC
low complexity region 50 60 N/A INTRINSIC
low complexity region 98 112 N/A INTRINSIC
low complexity region 181 195 N/A INTRINSIC
Pfam:Kri1 346 439 3.2e-27 PFAM
Pfam:Kri1_C 507 595 8.4e-37 PFAM
low complexity region 653 666 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000065005
SMART Domains Protein: ENSMUSP00000068450
Gene: ENSMUSG00000002820

DomainStartEndE-ValueType
low complexity region 39 53 N/A INTRINSIC
Pfam:Peptidase_C54 109 411 5.7e-107 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000184326
SMART Domains Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047

DomainStartEndE-ValueType
low complexity region 57 71 N/A INTRINSIC
Pfam:Kri1 207 317 4.4e-27 PFAM
Pfam:Kri1_C 381 472 3.6e-36 PFAM
low complexity region 529 542 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Blm CCTCCTCCTCCTC CCTCCTCCTCCTCTCCTCCTCCTC 7: 80,162,662 (GRCm39) probably null Het
Cacna1f GAG GAGTAG X: 7,486,293 (GRCm39) probably null Het
Ccdc170 ACC ACCTCC 10: 4,511,026 (GRCm39) probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r4 AGACACACTGCCCAGG AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG 9: 86,922,484 (GRCm39) probably benign Het
Dmkn GTGGA GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA 7: 30,466,619 (GRCm39) probably benign Het
Dnaaf9 CTC CTCGTC 2: 130,612,664 (GRCm39) probably benign Het
Dnah8 CCCTCCCG C 17: 30,854,450 (GRCm39) probably null Het
Fam171b AGCAGC AGCAGCTGCAGC 2: 83,643,220 (GRCm39) probably benign Het
Flywch1 TCACTCACCCACTCCTGGTGT TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT 17: 23,981,132 (GRCm39) probably null Het
Ifi208 AGATG AG 1: 173,505,262 (GRCm39) probably benign Het
Irag2 TG TGAGCACATGG 6: 145,119,516 (GRCm39) probably benign Het
Krtap28-10 CACAGC CACAGCCACAGCCACAACAGC 1: 83,020,006 (GRCm39) probably benign Het
Loricrin ATAGCCG A 3: 91,989,183 (GRCm39) probably benign Het
Med12l AGC AGCGGC 3: 59,183,388 (GRCm39) probably benign Het
Med12l CAG CAGAAG 3: 59,183,402 (GRCm39) probably benign Het
Mn1 CAG CAGAAG 5: 111,567,571 (GRCm39) probably benign Het
Mnd1 G A 3: 84,041,366 (GRCm39) L79F possibly damaging Het
Nolc1 AGCAGCAGC AGCAGCAGCGGCAGCAGC 19: 46,069,802 (GRCm39) probably benign Het
Pdcd11 GGAGGAG GG 19: 47,101,888 (GRCm39) probably null Het
Rbfox2 G T 15: 77,016,973 (GRCm39) Q134K possibly damaging Het
Tcof1 AGC AGCTGC 18: 60,968,808 (GRCm39) probably benign Het
Tent4a GACA G 13: 69,681,973 (GRCm39) probably benign Het
Ttf2 TTCT TTCTTCT 3: 100,870,473 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Vmn2r58 CAAAATGATGTAGCACTT C 7: 41,486,383 (GRCm39) probably null Het
Zfhx3 CAGCAGCA CAGCAGCAAGAGCAGCA 8: 109,682,730 (GRCm39) probably benign Het
Zfp384 CCCAGGC CCCAGGCCCAGGACCAGGC 6: 125,013,453 (GRCm39) probably benign Het
Other mutations in Kri1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Kri1 APN 9 21,191,723 (GRCm39) missense probably damaging 1.00
IGL02272:Kri1 APN 9 21,187,464 (GRCm39) missense probably damaging 1.00
IGL03229:Kri1 APN 9 21,193,366 (GRCm39) missense probably damaging 1.00
FR4548:Kri1 UTSW 9 21,192,346 (GRCm39) small deletion probably benign
R0040:Kri1 UTSW 9 21,192,401 (GRCm39) missense probably damaging 1.00
R0054:Kri1 UTSW 9 21,186,661 (GRCm39) missense probably damaging 1.00
R0054:Kri1 UTSW 9 21,186,661 (GRCm39) missense probably damaging 1.00
R0284:Kri1 UTSW 9 21,187,848 (GRCm39) splice site probably benign
R0665:Kri1 UTSW 9 21,192,936 (GRCm39) intron probably benign
R1632:Kri1 UTSW 9 21,193,507 (GRCm39) missense possibly damaging 0.89
R1640:Kri1 UTSW 9 21,191,753 (GRCm39) missense possibly damaging 0.61
R1847:Kri1 UTSW 9 21,191,788 (GRCm39) splice site probably benign
R3154:Kri1 UTSW 9 21,193,190 (GRCm39) missense possibly damaging 0.51
R4222:Kri1 UTSW 9 21,192,359 (GRCm39) missense probably benign 0.00
R4572:Kri1 UTSW 9 21,191,680 (GRCm39) missense probably damaging 1.00
R4905:Kri1 UTSW 9 21,198,998 (GRCm39) missense probably benign 0.19
R5236:Kri1 UTSW 9 21,187,237 (GRCm39) missense probably damaging 1.00
R5539:Kri1 UTSW 9 21,190,668 (GRCm39) nonsense probably null
R5696:Kri1 UTSW 9 21,191,533 (GRCm39) missense probably damaging 1.00
R5701:Kri1 UTSW 9 21,192,425 (GRCm39) missense possibly damaging 0.89
R6031:Kri1 UTSW 9 21,186,565 (GRCm39) missense probably benign 0.03
R6031:Kri1 UTSW 9 21,186,565 (GRCm39) missense probably benign 0.03
R6991:Kri1 UTSW 9 21,199,050 (GRCm39) unclassified probably benign
R6994:Kri1 UTSW 9 21,199,083 (GRCm39) unclassified probably benign
R7095:Kri1 UTSW 9 21,190,728 (GRCm39) missense
R7339:Kri1 UTSW 9 21,197,883 (GRCm39) missense
R7652:Kri1 UTSW 9 21,192,352 (GRCm39) small deletion probably benign
R7787:Kri1 UTSW 9 21,192,380 (GRCm39) missense
R7908:Kri1 UTSW 9 21,192,352 (GRCm39) small deletion probably benign
R8781:Kri1 UTSW 9 21,191,748 (GRCm39) missense
R9140:Kri1 UTSW 9 21,187,434 (GRCm39) missense
R9783:Kri1 UTSW 9 21,190,709 (GRCm39) missense
RF028:Kri1 UTSW 9 21,192,367 (GRCm39) frame shift probably null
RF058:Kri1 UTSW 9 21,192,362 (GRCm39) frame shift probably null
Z1088:Kri1 UTSW 9 21,185,418 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCCTGCAAAGAGGTGAATGTAATG -3'
(R):5'- CATCCCAGGCTATCTCTGTG -3'

Sequencing Primer
(F):5'- TTTGAACATCGGACCTTCGGAAG -3'
(R):5'- TCTGTGCCCCTCACCAGG -3'
Posted On 2019-12-04