Incidental Mutation 'R9123:Cib1'
ID 693026
Institutional Source Beutler Lab
Gene Symbol Cib1
Ensembl Gene ENSMUSG00000030538
Gene Name calcium and integrin binding 1
Synonyms Kip
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9123 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79876904-79882553 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79877751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 182 (D182G)
Ref Sequence ENSEMBL: ENSMUSP00000070901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032754] [ENSMUST00000062915] [ENSMUST00000065163] [ENSMUST00000071457] [ENSMUST00000123279] [ENSMUST00000205822] [ENSMUST00000205996] [ENSMUST00000206084] [ENSMUST00000206802]
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 damaging
Transcript: ENSMUST00000065163
AA Change: D182G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070901
Gene: ENSMUSG00000030538
AA Change: D182G

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 damaging
Transcript: ENSMUST00000071457
AA Change: D134G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071401
Gene: ENSMUSG00000030538
AA Change: D134G

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 damaging
Transcript: ENSMUST00000123279
AA Change: D108G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118926
Gene: ENSMUSG00000030538
AA Change: D108G

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 probably benign
Transcript: ENSMUST00000205822
Predicted Effect probably benign
Transcript: ENSMUST00000205996
Predicted Effect probably damaging
Transcript: ENSMUST00000206084
AA Change: D177G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000206802
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 G A 17: 84,976,425 (GRCm39) H471Y probably damaging Het
Ank2 T A 3: 126,733,744 (GRCm39) D622V probably damaging Het
Apoe T A 7: 19,432,375 (GRCm39) probably benign Het
Asz1 T C 6: 18,054,561 (GRCm39) E414G probably benign Het
Atp2a2 A T 5: 122,604,918 (GRCm39) C420* probably null Het
Cd84 A T 1: 171,712,153 (GRCm39) probably null Het
Cdca2 T A 14: 67,917,762 (GRCm39) R545S probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cpsf2 A G 12: 101,963,555 (GRCm39) D428G probably damaging Het
Cspg4b C T 13: 113,505,374 (GRCm39) P2168S Het
Dap3 T A 3: 88,837,861 (GRCm39) T130S probably benign Het
Ddb2 T A 2: 91,064,593 (GRCm39) K106* probably null Het
Ehd2 G A 7: 15,684,626 (GRCm39) A391V probably damaging Het
Evpl A T 11: 116,115,008 (GRCm39) I894N possibly damaging Het
Gabrb2 A G 11: 42,482,693 (GRCm39) T184A probably damaging Het
Gfpt1 G A 6: 87,053,248 (GRCm39) V403I probably benign Het
Gli1 A G 10: 127,167,202 (GRCm39) S684P possibly damaging Het
Gm7276 A G 18: 77,273,147 (GRCm39) S196P unknown Het
Hoxc10 C T 15: 102,875,810 (GRCm39) P173L probably benign Het
Hrnr A G 3: 93,238,863 (GRCm39) N3034D unknown Het
Kif2c A T 4: 117,024,291 (GRCm39) S359T probably benign Het
Lmln T G 16: 32,930,202 (GRCm39) L553R probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mettl1 T A 10: 126,880,911 (GRCm39) V191D possibly damaging Het
Mical2 A C 7: 111,870,589 (GRCm39) K26T possibly damaging Het
Myl1 A T 1: 66,973,675 (GRCm39) probably null Het
Nfat5 A G 8: 108,078,141 (GRCm39) T427A probably damaging Het
Noa1 T C 5: 77,457,038 (GRCm39) Y289C possibly damaging Het
Or5d14 C T 2: 87,880,294 (GRCm39) V225M probably damaging Het
Or8b49 T A 9: 38,506,108 (GRCm39) I197K probably damaging Het
Piezo2 A G 18: 63,178,589 (GRCm39) I1776T probably benign Het
Ppp1r7 A G 1: 93,285,497 (GRCm39) I246V probably benign Het
Ppp4c T A 7: 126,386,739 (GRCm39) E116V probably damaging Het
Psme2 T A 14: 55,828,302 (GRCm39) K15N possibly damaging Het
Retreg1 C T 15: 25,968,618 (GRCm39) R125C probably damaging Het
Rnf145 G T 11: 44,450,819 (GRCm39) R381L probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Ryr1 G A 7: 28,771,229 (GRCm39) T2604I probably damaging Het
Sag T C 1: 87,751,043 (GRCm39) S170P probably damaging Het
Sema3b T A 9: 107,478,173 (GRCm39) N404I possibly damaging Het
Serpina1b A T 12: 103,696,566 (GRCm39) L281Q probably damaging Het
Slc22a1 T A 17: 12,878,598 (GRCm39) T372S probably benign Het
Slco6d1 A T 1: 98,423,919 (GRCm39) N524Y probably damaging Het
Smarca2 T A 19: 26,693,583 (GRCm39) D1262E possibly damaging Het
Syne2 A T 12: 76,040,838 (GRCm39) H3832L probably damaging Het
Tarbp1 G T 8: 127,174,202 (GRCm39) T868K possibly damaging Het
Trp63 C T 16: 25,639,247 (GRCm39) A145V probably damaging Het
Tsc2 C T 17: 24,823,802 (GRCm39) R1001K probably null Het
Ttc39b T C 4: 83,189,444 (GRCm39) D30G probably damaging Het
Usf3 A G 16: 44,041,030 (GRCm39) T1837A probably benign Het
Usp25 T A 16: 76,911,969 (GRCm39) probably null Het
Vmn1r27 G A 6: 58,192,416 (GRCm39) T196I probably benign Het
Vrk3 C T 7: 44,407,254 (GRCm39) S75F possibly damaging Het
Washc5 T C 15: 59,209,134 (GRCm39) Y1030C probably damaging Het
Wdr47 T C 3: 108,526,106 (GRCm39) F210L probably damaging Het
Zfp853 G A 5: 143,274,496 (GRCm39) Q390* probably null Het
Zfyve9 A T 4: 108,575,760 (GRCm39) D440E probably benign Het
Other mutations in Cib1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0042:Cib1 UTSW 7 79,880,126 (GRCm39) missense probably benign 0.00
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
R9125:Cib1 UTSW 7 79,877,751 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGTACAGCCCTGACTAAC -3'
(R):5'- TGACAATGTGAGCTGCAGC -3'

Sequencing Primer
(F):5'- TGGCATGGAATTCACCTAGC -3'
(R):5'- CTTCTGGCTAGGTTGGGGTGTC -3'
Posted On 2022-01-20