Incidental Mutation 'IGL01670:Cytip'
ID 103444
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 # IGL01670
Quality Score
Status
Chromosome 2
Chromosomal Location 58019149-58085544 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58023785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 345 (I345N)
Ref Sequence ENSEMBL: ENSMUSP00000028175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028175]
AlphaFold Q91VY6
Predicted Effect probably damaging
Transcript: ENSMUST00000028175
AA Change: I345N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028175
Gene: ENSMUSG00000026832
AA Change: I345N

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
Acy1 A C 9: 106,314,006 (GRCm39) probably benign Het
Add1 C A 5: 34,777,407 (GRCm39) Q57K probably damaging Het
Alms1 A G 6: 85,655,132 (GRCm39) E3226G probably benign Het
Arl1 G T 10: 88,577,884 (GRCm39) R151L probably damaging Het
Cabs1 T A 5: 88,127,869 (GRCm39) D173E possibly damaging Het
Cdc34b T C 11: 94,632,845 (GRCm39) L15P probably benign Het
Cdyl2 A G 8: 117,351,092 (GRCm39) V13A probably damaging Het
Chd7 G T 4: 8,827,033 (GRCm39) R1026L probably damaging Het
Cldn34b4 T C X: 75,441,195 (GRCm39) S151P probably damaging Het
Col14a1 T A 15: 55,192,662 (GRCm39) I25N unknown Het
Crisp4 T A 1: 18,198,901 (GRCm39) T178S probably benign Het
Csmd2 C T 4: 128,407,164 (GRCm39) probably benign Het
Csmd3 T G 15: 47,475,225 (GRCm39) N2454H probably damaging Het
Frem2 A T 3: 53,564,358 (GRCm39) S50T possibly damaging Het
Gm9747 C T 1: 82,211,870 (GRCm39) probably benign Het
Gpr37 A G 6: 25,669,833 (GRCm39) F337S probably damaging Het
Herc1 A G 9: 66,394,342 (GRCm39) E4182G probably damaging Het
Isyna1 C T 8: 71,049,706 (GRCm39) P511L probably benign Het
Kdm4a T C 4: 118,017,698 (GRCm39) Y456C probably damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Larp7-ps T C 4: 92,079,737 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,614 (GRCm39) probably benign Het
Myl12a T C 17: 71,303,848 (GRCm39) T10A probably benign Het
Nav3 A G 10: 109,550,102 (GRCm39) V1876A possibly damaging Het
Nkx6-1 T A 5: 101,809,806 (GRCm39) Q247L probably benign Het
Nol8 A C 13: 49,814,784 (GRCm39) K297N possibly damaging Het
Or4c119 T A 2: 88,987,261 (GRCm39) Y86F probably benign Het
Or51e1 A T 7: 102,358,772 (GRCm39) Q102L probably damaging Het
Or5w18 A G 2: 87,633,224 (GRCm39) T164A probably benign Het
Pard3b A T 1: 62,250,807 (GRCm39) N579Y probably damaging Het
Pdcd11 T A 19: 47,094,743 (GRCm39) L509H probably damaging Het
Prss29 T C 17: 25,541,437 (GRCm39) S266P probably benign Het
Rapgef3 G T 15: 97,647,543 (GRCm39) H766N probably benign Het
Rasa1 A T 13: 85,373,609 (GRCm39) S818T probably damaging Het
Rtn4ip1 A G 10: 43,804,322 (GRCm39) M1V probably null Het
Sall1 A T 8: 89,758,199 (GRCm39) V635D probably benign Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc5a11 G A 7: 122,869,172 (GRCm39) A587T probably benign Het
Slc6a21 T C 7: 44,937,557 (GRCm39) V616A possibly damaging Het
Sorl1 A G 9: 41,912,788 (GRCm39) S1398P possibly damaging Het
Srcap A G 7: 127,127,604 (GRCm39) K390E probably damaging Het
Sycp2 C T 2: 178,019,843 (GRCm39) E558K probably benign Het
Tcf20 T C 15: 82,739,564 (GRCm39) N629S possibly damaging Het
Tmem154 A G 3: 84,591,537 (GRCm39) Y29C probably damaging Het
Tmtc3 A G 10: 100,282,987 (GRCm39) I856T probably benign Het
Zswim6 A G 13: 107,865,101 (GRCm39) noncoding transcript Het
Other mutations in Cytip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01635:Cytip APN 2 58,038,243 (GRCm39) missense probably damaging 1.00
IGL02184:Cytip APN 2 58,023,750 (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 2014-01-21