Incidental Mutation 'IGL01635:Cytip'
| ID |
92949 |
| 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)
|
| Stock # |
IGL01635
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
58019149-58085544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58038243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 106
(E106G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028175]
|
| AlphaFold |
Q91VY6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028175
AA Change: E106G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028175
Gene: ENSMUSG00000026832
AA Change: E106G
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000146545
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148764
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151785
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,431,910 (GRCm39) |
I396V |
probably benign |
Het |
| Bag2 |
T |
A |
1: 33,786,013 (GRCm39) |
N103I |
possibly damaging |
Het |
| Cfap95 |
T |
C |
19: 23,536,379 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd1 |
T |
C |
17: 17,598,858 (GRCm39) |
S107P |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,076 (GRCm39) |
|
probably benign |
Het |
| Dcp1b |
T |
A |
6: 119,183,498 (GRCm39) |
I195N |
probably damaging |
Het |
| Ddhd1 |
C |
A |
14: 45,867,037 (GRCm39) |
V322F |
probably null |
Het |
| Esrrg |
A |
T |
1: 187,930,797 (GRCm39) |
D296V |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,035,427 (GRCm39) |
K1867R |
probably benign |
Het |
| Gm10717 |
C |
A |
9: 3,025,511 (GRCm39) |
A32D |
probably damaging |
Het |
| Gm10717 |
C |
A |
9: 3,025,506 (GRCm39) |
F30L |
possibly damaging |
Het |
| Gstt1 |
G |
T |
10: 75,629,951 (GRCm39) |
T54K |
probably damaging |
Het |
| Ighmbp2 |
C |
T |
19: 3,317,265 (GRCm39) |
V536I |
possibly damaging |
Het |
| Mphosph8 |
A |
T |
14: 56,910,003 (GRCm39) |
R119W |
probably damaging |
Het |
| Negr1 |
A |
G |
3: 156,267,929 (GRCm39) |
D33G |
probably benign |
Het |
| Or2l13b |
A |
G |
16: 19,348,845 (GRCm39) |
V275A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,831,780 (GRCm39) |
I92L |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,637,114 (GRCm39) |
D116G |
probably damaging |
Het |
| Pold1 |
A |
T |
7: 44,185,401 (GRCm39) |
V733E |
probably damaging |
Het |
| Prorsd1 |
T |
A |
11: 29,463,467 (GRCm39) |
K98N |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,991,394 (GRCm39) |
L611I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,703,378 (GRCm39) |
R147C |
probably benign |
Het |
| Rpl27rt |
A |
T |
18: 34,870,795 (GRCm39) |
M110L |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,045,763 (GRCm39) |
Y861* |
probably null |
Het |
| Six4 |
G |
A |
12: 73,155,971 (GRCm39) |
A324V |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,816,992 (GRCm39) |
D135G |
probably benign |
Het |
| Tada3 |
T |
C |
6: 113,352,973 (GRCm39) |
H12R |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,810,238 (GRCm39) |
D116G |
probably damaging |
Het |
|
| Other mutations in Cytip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01670:Cytip
|
APN |
2 |
58,023,785 (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 |
2013-12-09 |
Incidental Mutation