Incidental Mutation 'R2195:Cib3'
ID 238320
Institutional Source Beutler Lab
Gene Symbol Cib3
Ensembl Gene ENSMUSG00000074240
Gene Name calcium and integrin binding family member 3
Synonyms KIP3, C730014M21Rik
MMRRC Submission 040197-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2195 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 72958179-72966840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72958257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 160 (I160N)
Ref Sequence ENSEMBL: ENSMUSP00000096231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072097] [ENSMUST00000098630] [ENSMUST00000165324]
AlphaFold Q0P523
Predicted Effect probably benign
Transcript: ENSMUST00000072097
SMART Domains Protein: ENSMUSP00000071970
Gene: ENSMUSG00000062007

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
SH2 32 115 1.75e-23 SMART
low complexity region 320 329 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098630
AA Change: I160N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096231
Gene: ENSMUSG00000074240
AA Change: I160N

DomainStartEndE-ValueType
EFh 43 71 3.97e1 SMART
EFh 80 108 4.32e1 SMART
EFh 121 149 1.57e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165324
SMART Domains Protein: ENSMUSP00000127575
Gene: ENSMUSG00000062007

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
SH2 32 115 1.75e-23 SMART
low complexity region 320 329 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211946
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 A T 15: 72,991,318 (GRCm39) V540E probably benign Het
Cep295 T A 9: 15,243,617 (GRCm39) Q1613L probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Coq10b T A 1: 55,100,457 (GRCm39) L47Q probably damaging Het
Impg2 T C 16: 56,080,497 (GRCm39) V767A probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kmt2e T C 5: 23,707,194 (GRCm39) probably null Het
Marf1 T C 16: 13,929,563 (GRCm39) D1681G probably benign Het
Nid1 G T 13: 13,650,788 (GRCm39) V442L probably damaging Het
Or13a21 T C 7: 139,999,138 (GRCm39) T183A possibly damaging Het
Or8k32 T C 2: 86,369,247 (GRCm39) E2G probably benign Het
Ppfia1 T C 7: 144,069,844 (GRCm39) N363S probably damaging Het
Stxbp2 A G 8: 3,684,615 (GRCm39) probably null Het
Tnf A G 17: 35,420,089 (GRCm39) probably null Het
Zkscan7 T C 9: 122,724,686 (GRCm39) F552L possibly damaging Het
Other mutations in Cib3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6624:Cib3 UTSW 8 72,959,582 (GRCm39) missense probably damaging 0.98
R7548:Cib3 UTSW 8 72,961,041 (GRCm39) missense probably damaging 0.99
R7765:Cib3 UTSW 8 72,958,269 (GRCm39) missense probably damaging 0.98
R9766:Cib3 UTSW 8 72,961,034 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GTCCAGAAGTCGCCAGTTGTATG -3'
(R):5'- TGGGAGCCACCTGTAGAATG -3'

Sequencing Primer
(F):5'- CAGAAGTCGCCAGTTGTATGAATCC -3'
(R):5'- AAGGTTGACCCCTGGCTTCAC -3'
Posted On 2014-10-02