Incidental Mutation 'R7765:Cib3'
ID 598182
Institutional Source Beutler Lab
Gene Symbol Cib3
Ensembl Gene ENSMUSG00000074240
Gene Name calcium and integrin binding family member 3
Synonyms KIP3, C730014M21Rik
MMRRC Submission 045821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7765 (G1)
Quality Score 102.008
Status Validated
Chromosome 8
Chromosomal Location 72958179-72966840 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72958269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 156 (F156S)
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: F156S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096231
Gene: ENSMUSG00000074240
AA Change: F156S

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
Meta Mutation Damage Score 0.7751 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 T C 14: 66,297,345 (GRCm39) E187G probably damaging Het
Adam28 C T 14: 68,846,555 (GRCm39) probably null Het
Ap2a1 G A 7: 44,559,160 (GRCm39) T189M probably damaging Het
Apaf1 A G 10: 90,859,644 (GRCm39) Y845H probably benign Het
Asb14 G T 14: 26,619,718 (GRCm39) V55F probably benign Het
Brap A T 5: 121,800,192 (GRCm39) D71V probably damaging Het
Ccdc93 T G 1: 121,427,042 (GRCm39) F610V probably damaging Het
Cfap46 T G 7: 139,231,480 (GRCm39) D911A Het
Chn2 T C 6: 54,275,137 (GRCm39) probably null Het
Csnk2a1-ps3 G A 1: 156,352,354 (GRCm39) G185D possibly damaging Het
Ctif A T 18: 75,738,715 (GRCm39) V164D probably damaging Het
Ddx27 T A 2: 166,869,879 (GRCm39) F405I probably damaging Het
Dnttip2 A G 3: 122,069,594 (GRCm39) T270A probably benign Het
Dst T A 1: 34,314,775 (GRCm39) S4455T probably damaging Het
Efcab8 A G 2: 153,685,110 (GRCm39) K47R Het
Efhd2 T C 4: 141,601,886 (GRCm39) E98G probably damaging Het
Fcmr T A 1: 130,802,025 (GRCm39) L93Q probably damaging Het
Fhdc1 T A 3: 84,351,906 (GRCm39) E1106D probably benign Het
Gcnt1 C T 19: 17,306,723 (GRCm39) G334D probably damaging Het
Hltf T C 3: 20,145,647 (GRCm39) F488L probably benign Het
Hmgxb4 C A 8: 75,727,436 (GRCm39) H140N probably damaging Het
Ifi214 A T 1: 173,352,402 (GRCm39) F342L probably damaging Het
Ip6k1 A G 9: 107,909,288 (GRCm39) D105G possibly damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kif18a G A 2: 109,137,285 (GRCm39) D506N probably benign Het
Klf17 T A 4: 117,617,812 (GRCm39) M182L probably benign Het
Kmt2d A G 15: 98,750,215 (GRCm39) F2493L unknown Het
Lefty1 A G 1: 180,764,112 (GRCm39) E84G probably damaging Het
Lyst T G 13: 13,884,117 (GRCm39) L2975R possibly damaging Het
Magea5 G A X: 153,837,174 (GRCm39) P73S possibly damaging Het
Mctp2 T C 7: 71,740,079 (GRCm39) probably null Het
Mprip C T 11: 59,649,047 (GRCm39) T917M possibly damaging Het
Myh8 T A 11: 67,194,481 (GRCm39) I1564N probably benign Het
Npc1 A T 18: 12,328,105 (GRCm39) M1068K probably benign Het
Nr2e1 A G 10: 42,450,433 (GRCm39) C60R probably benign Het
Nrxn3 A G 12: 89,780,254 (GRCm39) I29V probably benign Het
Ntsr1 T A 2: 180,180,610 (GRCm39) H305Q probably damaging Het
Or2y1e A G 11: 49,218,571 (GRCm39) E111G probably damaging Het
Or8g35 A G 9: 39,381,612 (GRCm39) S137P probably benign Het
Or8h10 T A 2: 86,808,538 (GRCm39) I201F probably damaging Het
Pate2 A C 9: 35,581,197 (GRCm39) E22D probably benign Het
Pcdhb22 A G 18: 37,652,158 (GRCm39) T209A probably damaging Het
Pdss2 C T 10: 43,340,628 (GRCm39) S352F probably benign Het
Pfn3 T A 13: 55,562,900 (GRCm39) D27V probably damaging Het
Pigg T G 5: 108,461,920 (GRCm39) S84A probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rad51b T C 12: 79,850,044 (GRCm39) probably null Het
Scn10a A G 9: 119,438,970 (GRCm39) V1632A possibly damaging Het
Serpinb3d T G 1: 107,007,512 (GRCm39) D158A probably damaging Het
Sh3yl1 T C 12: 31,008,868 (GRCm39) L266P probably damaging Het
Sidt2 A T 9: 45,852,873 (GRCm39) probably null Het
Stox1 C T 10: 62,501,778 (GRCm39) V261M probably benign Het
Taf7l2 T A 10: 115,949,158 (GRCm39) K123* probably null Het
Tll1 A G 8: 64,504,483 (GRCm39) Y638H probably damaging Het
Tst A T 15: 78,289,816 (GRCm39) M73K possibly damaging Het
Tuba4a C T 1: 75,193,003 (GRCm39) V232M probably benign Het
Unk T A 11: 115,943,908 (GRCm39) V343D probably benign Het
Usf3 T C 16: 44,039,426 (GRCm39) V1302A probably benign Het
Usp32 A T 11: 84,885,234 (GRCm39) L1271H probably damaging Het
Vwa5b2 C T 16: 20,413,361 (GRCm39) P192L probably benign Het
Zfp995 A G 17: 22,100,984 (GRCm39) Y38H probably damaging Het
Other mutations in Cib3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2195:Cib3 UTSW 8 72,958,257 (GRCm39) missense probably damaging 1.00
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
R9766:Cib3 UTSW 8 72,961,034 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGCTCTAGGTCCAGAAGTCG -3'
(R):5'- ACCTGTAGAATGACCCCAAGG -3'

Sequencing Primer
(F):5'- CAGAAGTCGCCAGTTGTATGAATCC -3'
(R):5'- AAGGTTGACCCCTGGCTTCAC -3'
Posted On 2019-11-26