Incidental Mutation 'R8996:Igkv4-54'
ID 684716
Institutional Source Beutler Lab
Gene Symbol Igkv4-54
Ensembl Gene ENSMUSG00000094319
Gene Name immunoglobulin kappa chain variable 4-54
Synonyms
MMRRC Submission 068827-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R8996 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 69608632-69609162 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 69608774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 48 (Y48*)
Ref Sequence ENSEMBL: ENSMUSP00000136516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177697] [ENSMUST00000199437]
AlphaFold J3QMZ0
PDB Structure Crystal structure of complex of the Bacillus anthracis major spore surface protein BclA with ScFv antibody fragment [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000177697
AA Change: Y48*
SMART Domains Protein: ENSMUSP00000136516
Gene: ENSMUSG00000094319
AA Change: Y48*

DomainStartEndE-ValueType
IGv 18 89 2.09e-15 SMART
Predicted Effect probably null
Transcript: ENSMUST00000199437
AA Change: Y70*
SMART Domains Protein: ENSMUSP00000142893
Gene: ENSMUSG00000094319
AA Change: Y70*

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IGv 40 111 8.7e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,769,069 (GRCm39) I764V probably benign Het
Adgrv1 GTT GT 13: 81,553,457 (GRCm39) probably null Het
Alcam T C 16: 52,126,114 (GRCm39) I68V probably benign Het
Atp8b2 A G 3: 89,850,696 (GRCm39) L75P probably damaging Het
B3gnt6 T C 7: 97,842,799 (GRCm39) N387S probably benign Het
Btn2a2 T C 13: 23,662,831 (GRCm39) E373G probably damaging Het
Cfap65 G A 1: 74,941,347 (GRCm39) H1831Y probably benign Het
Cftr T A 6: 18,255,945 (GRCm39) C564* probably null Het
Chd6 A G 2: 160,823,543 (GRCm39) W1276R probably damaging Het
Csmd1 T C 8: 15,971,105 (GRCm39) E3070G possibly damaging Het
Cxcr4 A G 1: 128,517,538 (GRCm39) I41T possibly damaging Het
Dnhd1 T A 7: 105,323,242 (GRCm39) N583K probably damaging Het
Fignl1 G T 11: 11,752,953 (GRCm39) P34Q probably damaging Het
Frg2f1 T C 4: 119,388,085 (GRCm39) D138G probably damaging Het
Gabra4 A T 5: 71,729,046 (GRCm39) M578K possibly damaging Het
Gnb5 T C 9: 75,251,805 (GRCm39) V351A probably benign Het
H2-Ob A T 17: 34,462,531 (GRCm39) I245F probably damaging Het
Hps4 G A 5: 112,525,905 (GRCm39) S642N possibly damaging Het
Kdm7a A C 6: 39,129,786 (GRCm39) H463Q probably benign Het
L3mbtl4 A G 17: 68,769,997 (GRCm39) T256A probably benign Het
Lhpp A G 7: 132,212,484 (GRCm39) D17G probably damaging Het
Mis18bp1 C T 12: 65,180,632 (GRCm39) V950I probably benign Het
Mms22l T A 4: 24,598,884 (GRCm39) probably null Het
Mrgpra4 T C 7: 47,630,945 (GRCm39) T219A probably benign Het
Nptx1 G A 11: 119,438,394 (GRCm39) R8C unknown Het
Plcxd1 A G 5: 110,250,444 (GRCm39) T262A probably benign Het
Sf1 G A 19: 6,426,441 (GRCm39) G221S Het
Shkbp1 A G 7: 27,042,844 (GRCm39) V531A possibly damaging Het
Slc12a3 A T 8: 95,056,063 (GRCm39) E66D probably benign Het
Slc14a1 A T 18: 78,156,911 (GRCm39) I198K possibly damaging Het
Spag8 T C 4: 43,651,998 (GRCm39) E362G probably damaging Het
Speer4c1 T A 5: 15,915,886 (GRCm39) I161L probably benign Het
Stk3 A G 15: 34,945,208 (GRCm39) S427P possibly damaging Het
Stt3b T C 9: 115,073,065 (GRCm39) K814E unknown Het
Synpo T A 18: 60,737,230 (GRCm39) I239F possibly damaging Het
Tcf7l1 G T 6: 72,765,563 (GRCm39) R97S possibly damaging Het
Trav15-2-dv6-2 T A 14: 53,887,247 (GRCm39) Y56N probably benign Het
Ttc39c A G 18: 12,820,136 (GRCm39) N112S probably benign Het
Usp14 T C 18: 10,000,521 (GRCm39) K380E probably benign Het
Usp17lb C T 7: 104,490,889 (GRCm39) A13T probably benign Het
Usp4 G A 9: 108,268,909 (GRCm39) R921H probably damaging Het
Xndc1 A G 7: 101,722,518 (GRCm39) D61G probably damaging Het
Zfp1006 G A 8: 129,946,016 (GRCm39) P270S possibly damaging Het
Other mutations in Igkv4-54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02800:Igkv4-54 APN 6 69,608,862 (GRCm39) missense probably damaging 1.00
R5107:Igkv4-54 UTSW 6 69,608,914 (GRCm39) missense possibly damaging 0.65
R5669:Igkv4-54 UTSW 6 69,608,832 (GRCm39) missense possibly damaging 0.91
R7247:Igkv4-54 UTSW 6 69,608,842 (GRCm39) missense probably damaging 1.00
R7866:Igkv4-54 UTSW 6 69,608,740 (GRCm39) missense probably benign 0.23
R9219:Igkv4-54 UTSW 6 69,608,689 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGACCCTAAGGACTTAGAGGG -3'
(R):5'- CCAAAATTCTTTTCCCTGGGG -3'

Sequencing Primer
(F):5'- CCCTAAGGACTTAGAGGGTTTTTG -3'
(R):5'- AGTGCCAGCTCAAGTGTA -3'
Posted On 2021-10-11