Incidental Mutation 'R6624:Cib3'
ID 524673
Institutional Source Beutler Lab
Gene Symbol Cib3
Ensembl Gene ENSMUSG00000074240
Gene Name calcium and integrin binding family member 3
Synonyms KIP3, C730014M21Rik
MMRRC Submission 044746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6624 (G1)
Quality Score 213.009
Status Validated
Chromosome 8
Chromosomal Location 72958179-72966840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72959582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 96 (I96F)
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: I96F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096231
Gene: ENSMUSG00000074240
AA Change: I96F

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (32/32)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,740,298 (GRCm39) E852K possibly damaging Het
Ckap5 C T 2: 91,407,996 (GRCm39) P841S probably benign Het
Col25a1 A G 3: 130,360,100 (GRCm39) probably null Het
Col27a1 A T 4: 63,143,248 (GRCm39) H312L probably benign Het
Cyp2j7 A G 4: 96,115,855 (GRCm39) I197T probably damaging Het
Cyp4f40 C T 17: 32,890,154 (GRCm39) R275C possibly damaging Het
Eif3l T C 15: 78,974,129 (GRCm39) S515P probably damaging Het
Enpp1 A T 10: 24,545,653 (GRCm39) Y262* probably null Het
Ergic3 T A 2: 155,858,818 (GRCm39) M286K probably damaging Het
Ern2 C T 7: 121,777,006 (GRCm39) A305T probably benign Het
Fam187b A G 7: 30,676,612 (GRCm39) I40M probably benign Het
Fcho1 T G 8: 72,162,015 (GRCm39) K798T probably damaging Het
Iah1 C T 12: 21,369,785 (GRCm39) Q100* probably null Het
Jak2 T C 19: 29,259,989 (GRCm39) I296T probably damaging Het
Lats2 A G 14: 57,931,769 (GRCm39) probably null Het
Lrriq4 A T 3: 30,704,929 (GRCm39) H319L probably benign Het
Man2b1 A G 8: 85,823,482 (GRCm39) N939D probably benign Het
Meis1 T C 11: 18,966,215 (GRCm39) T53A probably benign Het
Nadsyn1 C T 7: 143,359,710 (GRCm39) E421K probably benign Het
Or10a3m T C 7: 108,312,743 (GRCm39) I49T possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pmfbp1 T C 8: 110,256,822 (GRCm39) S509P possibly damaging Het
Pou4f3 A T 18: 42,528,707 (GRCm39) I217F probably damaging Het
Ppara C A 15: 85,675,237 (GRCm39) N235K probably benign Het
Prrg2 T C 7: 44,709,410 (GRCm39) Y73C probably damaging Het
Sdccag8 T A 1: 176,702,378 (GRCm39) probably null Het
Thap12 T G 7: 98,364,793 (GRCm39) Y320* probably null Het
Trpm6 A G 19: 18,773,803 (GRCm39) probably null Het
Trpm6 T A 19: 18,866,384 (GRCm39) C1978S probably damaging Het
Usp33 A G 3: 152,087,435 (GRCm39) Y708C probably damaging Het
Wdr3 G A 3: 100,051,642 (GRCm39) T669M probably damaging Het
Zdbf2 T C 1: 63,343,073 (GRCm39) I484T possibly damaging Het
Other mutations in Cib3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2195:Cib3 UTSW 8 72,958,257 (GRCm39) missense probably damaging 1.00
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'- CTGATGACACAACAGGAATTCTC -3'
(R):5'- TTCAATGGCTCTCAGTGCCC -3'

Sequencing Primer
(F):5'- AACTTTTACCTGAGGAAGTCTGGAGC -3'
(R):5'- TCTCAGTGCCCATGGTGC -3'
Posted On 2018-06-22