Incidental Mutation 'IGL02184:Cytip'
ID 284266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cytip
Ensembl Gene ENSMUSG00000026832
Gene Name cytohesin 1 interacting protein
Synonyms A130053M09Rik, Cybr, Cbp, Pscdbp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02184
Quality Score
Status
Chromosome 2
Chromosomal Location 58019149-58085544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58023750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 357 (S357G)
Ref Sequence ENSEMBL: ENSMUSP00000028175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028175]
AlphaFold Q91VY6
Predicted Effect probably damaging
Transcript: ENSMUST00000028175
AA Change: S357G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028175
Gene: ENSMUSG00000026832
AA Change: S357G

DomainStartEndE-ValueType
PDZ 86 166 6.88e-13 SMART
low complexity region 177 188 N/A INTRINSIC
low complexity region 240 253 N/A INTRINSIC
low complexity region 295 306 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148764
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a null allele display impaired trafficking and/or cell adhesion of immune system cells. Mice homozygous for a reporter allele show normal immune cell development and function; however, mutant hematopoietic stems cells have impaired repopulating activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 C T 3: 89,253,241 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Aopep T G 13: 63,215,925 (GRCm39) I399S possibly damaging Het
Atp8b3 A C 10: 80,363,067 (GRCm39) probably benign Het
Brwd1 A T 16: 95,815,029 (GRCm39) M1417K probably damaging Het
Camk2d A T 3: 126,591,422 (GRCm39) R297S probably damaging Het
Cntnap1 A T 11: 101,069,191 (GRCm39) H215L probably damaging Het
Eif1ad15 T C 12: 88,287,951 (GRCm39) R101G probably benign Het
Fancg A G 4: 43,006,872 (GRCm39) Y273H possibly damaging Het
Fbxo36 A G 1: 84,858,885 (GRCm39) S57G probably benign Het
Fgf8 A T 19: 45,725,655 (GRCm39) L141Q probably damaging Het
Grm5 C T 7: 87,675,650 (GRCm39) T388M probably damaging Het
Hipk1 A G 3: 103,666,066 (GRCm39) L589P possibly damaging Het
Kiz T C 2: 146,731,520 (GRCm39) S337P probably benign Het
Lrrc37a A T 11: 103,388,435 (GRCm39) I2330K unknown Het
Mdfic T A 6: 15,770,366 (GRCm39) I124K possibly damaging Het
Mdfic2 T C 6: 98,225,059 (GRCm39) S75G possibly damaging Het
Mttp A G 3: 137,821,761 (GRCm39) probably null Het
Myom1 G A 17: 71,379,132 (GRCm39) S632N possibly damaging Het
Nlrp12 T C 7: 3,289,094 (GRCm39) K473E probably damaging Het
Nrp2 C A 1: 62,758,099 (GRCm39) C28* probably null Het
Nwd2 G T 5: 63,963,020 (GRCm39) G868V probably damaging Het
Or4a73 G A 2: 89,420,637 (GRCm39) T274I probably damaging Het
Or4c58 G A 2: 89,674,729 (GRCm39) A196V probably damaging Het
Or5w1 A G 2: 87,487,136 (GRCm39) L43P probably damaging Het
Pappa A T 4: 65,258,928 (GRCm39) M1559L possibly damaging Het
Pmm2 T A 16: 8,455,668 (GRCm39) D10E possibly damaging Het
Polm T C 11: 5,780,137 (GRCm39) Q300R probably benign Het
Prrc2b T A 2: 32,111,467 (GRCm39) N1208K probably benign Het
Serpinb3c T C 1: 107,199,648 (GRCm39) D291G probably damaging Het
Skic3 A G 13: 76,259,810 (GRCm39) K37E probably damaging Het
Slc1a2 T C 2: 102,578,889 (GRCm39) F268S probably damaging Het
Slc26a4 A G 12: 31,599,948 (GRCm39) Y127H probably damaging Het
Slc29a4 A G 5: 142,703,506 (GRCm39) Y260C probably damaging Het
Sorbs3 C T 14: 70,421,455 (GRCm39) probably null Het
Spen T C 4: 141,214,917 (GRCm39) Y534C unknown Het
Tmem237 T C 1: 59,159,270 (GRCm39) probably null Het
Tnfrsf21 A T 17: 43,396,354 (GRCm39) N546I probably benign Het
Tpgs2 T A 18: 25,273,630 (GRCm39) D177V probably damaging Het
Tpx2 C T 2: 152,724,240 (GRCm39) R339* probably null Het
Trim12c T C 7: 103,997,430 (GRCm39) Y42C probably benign Het
Trip10 A T 17: 57,564,272 (GRCm39) E341V probably damaging Het
Trpm8 A T 1: 88,258,416 (GRCm39) probably null Het
Ubr1 T A 2: 120,730,989 (GRCm39) I1221F probably benign Het
Ucp2 C T 7: 100,148,529 (GRCm39) A301V probably benign Het
Zfyve1 T C 12: 83,605,467 (GRCm39) I411V probably benign Het
Other mutations in Cytip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Cytip APN 2 58,038,243 (GRCm39) missense probably damaging 1.00
IGL01670:Cytip APN 2 58,023,785 (GRCm39) missense probably damaging 1.00
IGL02271:Cytip APN 2 58,023,872 (GRCm39) nonsense probably null
IGL02468:Cytip APN 2 58,024,025 (GRCm39) missense probably benign 0.08
R0079:Cytip UTSW 2 58,050,006 (GRCm39) missense probably benign 0.37
R0304:Cytip UTSW 2 58,038,258 (GRCm39) missense possibly damaging 0.87
R0612:Cytip UTSW 2 58,024,202 (GRCm39) missense possibly damaging 0.46
R1448:Cytip UTSW 2 58,035,192 (GRCm39) missense probably damaging 1.00
R1822:Cytip UTSW 2 58,024,158 (GRCm39) missense probably benign 0.00
R1954:Cytip UTSW 2 58,038,265 (GRCm39) missense possibly damaging 0.75
R4401:Cytip UTSW 2 58,023,947 (GRCm39) missense probably benign 0.01
R4578:Cytip UTSW 2 58,050,024 (GRCm39) missense possibly damaging 0.95
R5101:Cytip UTSW 2 58,037,911 (GRCm39) missense probably damaging 1.00
R7104:Cytip UTSW 2 58,049,986 (GRCm39) missense probably benign 0.00
R7703:Cytip UTSW 2 58,037,920 (GRCm39) missense probably damaging 1.00
R7966:Cytip UTSW 2 58,037,944 (GRCm39) missense probably damaging 1.00
R8492:Cytip UTSW 2 58,027,869 (GRCm39) critical splice donor site probably null
R8711:Cytip UTSW 2 58,041,135 (GRCm39) missense probably damaging 0.99
R8862:Cytip UTSW 2 58,037,887 (GRCm39) missense probably benign 0.25
R9548:Cytip UTSW 2 58,041,141 (GRCm39) missense probably damaging 0.99
Z1176:Cytip UTSW 2 58,024,049 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16