Incidental Mutation 'R0042:Cib1'
ID 63245
Institutional Source Beutler Lab
Gene Symbol Cib1
Ensembl Gene ENSMUSG00000030538
Gene Name calcium and integrin binding 1
Synonyms Kip
MMRRC Submission 038336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0042 (G1)
Quality Score 133
Status Validated
Chromosome 7
Chromosomal Location 79876904-79882553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79880126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 45 (V45M)
Ref Sequence ENSEMBL: ENSMUSP00000070901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000062915] [ENSMUST00000065163] [ENSMUST00000071457] [ENSMUST00000123279] [ENSMUST00000206084] [ENSMUST00000205996] [ENSMUST00000206802] [ENSMUST00000205822]
AlphaFold Q9Z0F4
Predicted Effect probably benign
Transcript: ENSMUST00000032754
SMART Domains Protein: ENSMUSP00000032754
Gene: ENSMUSG00000030539

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Sema 57 494 8.07e-177 SMART
PSI 512 582 4.7e-9 SMART
low complexity region 626 639 N/A INTRINSIC
transmembrane domain 701 723 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062915
SMART Domains Protein: ENSMUSP00000061808
Gene: ENSMUSG00000050973

DomainStartEndE-ValueType
SCOP:d1kpf__ 150 223 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065163
AA Change: V45M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000070901
Gene: ENSMUSG00000030538
AA Change: V45M

DomainStartEndE-ValueType
low complexity region 84 100 N/A INTRINSIC
EFh 107 135 4.4e0 SMART
EFh 152 180 1.17e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071457
SMART Domains Protein: ENSMUSP00000071401
Gene: ENSMUSG00000030538

DomainStartEndE-ValueType
low complexity region 36 52 N/A INTRINSIC
EFh 59 87 4.4e0 SMART
EFh 104 132 1.17e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123279
SMART Domains Protein: ENSMUSP00000118926
Gene: ENSMUSG00000030538

DomainStartEndE-ValueType
low complexity region 10 26 N/A INTRINSIC
EFh 33 61 4.4e0 SMART
EFh 78 106 1.17e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144295
Predicted Effect probably benign
Transcript: ENSMUST00000206084
AA Change: V45M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205996
Predicted Effect probably benign
Transcript: ENSMUST00000206802
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206211
Predicted Effect probably benign
Transcript: ENSMUST00000205822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206618
Meta Mutation Damage Score 0.0737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous mutation of this gene results in male infertility due to disruption of the haploid phase of spermatogenesis and is associated with small testis size and loss of elongated spermatids and sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 C T 4: 53,059,245 (GRCm39) probably benign Het
Acr T A 15: 89,458,535 (GRCm39) H405Q probably benign Het
Adad1 T C 3: 37,137,322 (GRCm39) probably benign Het
Alox5ap T C 5: 149,216,069 (GRCm39) probably benign Het
Ank2 T C 3: 126,730,280 (GRCm39) D3568G probably damaging Het
Atl3 T G 19: 7,506,388 (GRCm39) I306S probably damaging Het
Atr T A 9: 95,809,409 (GRCm39) probably benign Het
Ccnb2 A G 9: 70,326,335 (GRCm39) V34A probably benign Het
Cdh12 A C 15: 21,537,763 (GRCm39) probably benign Het
Col6a6 T C 9: 105,657,896 (GRCm39) E772G possibly damaging Het
Dmxl1 C A 18: 49,997,102 (GRCm39) T466K probably benign Het
Dym T C 18: 75,258,610 (GRCm39) probably null Het
Enpp3 A C 10: 24,650,722 (GRCm39) F805V probably damaging Het
Eya1 T C 1: 14,254,713 (GRCm39) D373G probably damaging Het
Gpr179 C T 11: 97,225,757 (GRCm39) V2133I probably benign Het
Grb10 G T 11: 11,886,798 (GRCm39) H435Q probably damaging Het
Gzmm T C 10: 79,530,399 (GRCm39) I190T probably benign Het
Helt T C 8: 46,745,433 (GRCm39) Y150C probably damaging Het
Hrg A T 16: 22,779,886 (GRCm39) probably benign Het
Il17ra T C 6: 120,449,086 (GRCm39) probably benign Het
Inhbc A G 10: 127,193,302 (GRCm39) I238T probably benign Het
Itgb3 A G 11: 104,557,966 (GRCm39) T787A possibly damaging Het
Jakmip2 T G 18: 43,685,210 (GRCm39) probably benign Het
Krt4 T G 15: 101,831,187 (GRCm39) probably benign Het
Lgsn C T 1: 31,229,534 (GRCm39) T85I probably benign Het
Metap1 C T 3: 138,177,918 (GRCm39) V217I probably benign Het
Mib2 A T 4: 155,743,897 (GRCm39) C48* probably null Het
Mroh4 T A 15: 74,482,154 (GRCm39) I768F probably damaging Het
Npas3 T A 12: 54,095,624 (GRCm39) D361E probably damaging Het
Obscn A G 11: 58,943,411 (GRCm39) L4246P probably damaging Het
Or4a78 A C 2: 89,497,798 (GRCm39) V144G probably benign Het
Or7e169 A G 9: 19,757,075 (GRCm39) M280T probably benign Het
Or8h7 A G 2: 86,720,835 (GRCm39) I228T probably damaging Het
P4hb G A 11: 120,459,092 (GRCm39) R134C probably damaging Het
Plcb3 T C 19: 6,943,788 (GRCm39) D71G probably damaging Het
Prex2 T A 1: 11,150,305 (GRCm39) V159E probably damaging Het
Prpsap1 T A 11: 116,370,482 (GRCm39) K158N probably benign Het
Prr35 C A 17: 26,166,956 (GRCm39) E194* probably null Het
Ptger1 G T 8: 84,394,795 (GRCm39) V91L probably benign Het
Rdh10 T C 1: 16,178,260 (GRCm39) probably benign Het
Rgs9bp C A 7: 35,284,458 (GRCm39) R63L probably damaging Het
Slc13a5 A T 11: 72,149,940 (GRCm39) V173E probably benign Het
Spata31 A T 13: 65,070,377 (GRCm39) I842L probably benign Het
Stk32b A C 5: 37,874,092 (GRCm39) D13E probably benign Het
Svep1 T C 4: 58,123,192 (GRCm39) D708G possibly damaging Het
Taar6 T C 10: 23,861,021 (GRCm39) D175G probably benign Het
Thbs1 A C 2: 117,953,358 (GRCm39) D925A probably damaging Het
Tnr A T 1: 159,714,595 (GRCm39) T825S probably benign Het
Ttc23l A C 15: 10,551,627 (GRCm39) L33W probably damaging Het
Ttc39d T C 17: 80,523,379 (GRCm39) Y13H probably benign Het
Vmn2r102 C A 17: 19,880,851 (GRCm39) P64Q probably damaging Het
Vps11 G T 9: 44,267,588 (GRCm39) Y341* probably null Het
Vsig8 T C 1: 172,387,925 (GRCm39) V5A possibly damaging Het
Vwce C T 19: 10,624,177 (GRCm39) A356V probably benign Het
Other mutations in Cib1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1132:Cib1 UTSW 7 79,877,778 (GRCm39) missense probably damaging 1.00
R1548:Cib1 UTSW 7 79,878,162 (GRCm39) nonsense probably null
R1964:Cib1 UTSW 7 79,882,120 (GRCm39) missense possibly damaging 0.90
R7203:Cib1 UTSW 7 79,882,120 (GRCm39) missense possibly damaging 0.90
R7998:Cib1 UTSW 7 79,878,162 (GRCm39) nonsense probably null
R8427:Cib1 UTSW 7 79,877,749 (GRCm39) missense probably damaging 1.00
R8799:Cib1 UTSW 7 79,882,291 (GRCm39) missense probably damaging 1.00
R8950:Cib1 UTSW 7 79,878,211 (GRCm39) missense probably damaging 1.00
R9123:Cib1 UTSW 7 79,877,751 (GRCm39) missense probably damaging 1.00
R9125:Cib1 UTSW 7 79,877,751 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGAATGCTGGTTTTAAACGGGAAGAGT -3'
(R):5'- CAATGACTGGGAATCCTGGGTGTG -3'

Sequencing Primer
(F):5'- acaggcaccagcacttac -3'
(R):5'- GTGTGTGACTTAGTTTCACAGC -3'
Posted On 2013-07-30