Incidental Mutation 'IGL01791:Cdip1'
ID155211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdip1
Ensembl Gene ENSMUSG00000004071
Gene Namecell death inducing Trp53 target 1
SynonymsCDIP, 5730403B10Rik, 2700048O17Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.331) question?
Stock #IGL01791
Quality Score
Status
Chromosome16
Chromosomal Location4750348-4790292 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4768865 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 122 (I122T)
Ref Sequence ENSEMBL: ENSMUSP00000120143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004172] [ENSMUST00000004173] [ENSMUST00000117713] [ENSMUST00000118703] [ENSMUST00000118885] [ENSMUST00000120232] [ENSMUST00000121529] [ENSMUST00000140367] [ENSMUST00000147225] [ENSMUST00000154117]
Predicted Effect probably benign
Transcript: ENSMUST00000004172
SMART Domains Protein: ENSMUSP00000004172
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 235 2e-83 PFAM
transmembrane domain 295 314 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000004173
AA Change: I132T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004173
Gene: ENSMUSG00000004071
AA Change: I132T

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
low complexity region 77 110 N/A INTRINSIC
LITAF 137 206 4.1e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117713
AA Change: I115T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113618
Gene: ENSMUSG00000004071
AA Change: I115T

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
low complexity region 81 93 N/A INTRINSIC
LITAF 120 189 4.1e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118703
AA Change: I132T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113889
Gene: ENSMUSG00000004071
AA Change: I132T

DomainStartEndE-ValueType
low complexity region 5 13 N/A INTRINSIC
low complexity region 51 69 N/A INTRINSIC
low complexity region 77 110 N/A INTRINSIC
LITAF 137 206 4.1e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118885
SMART Domains Protein: ENSMUSP00000113110
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 235 2e-83 PFAM
transmembrane domain 295 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120232
SMART Domains Protein: ENSMUSP00000112397
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 235 2e-83 PFAM
transmembrane domain 295 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121529
SMART Domains Protein: ENSMUSP00000112378
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 228 6.8e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140187
Predicted Effect probably benign
Transcript: ENSMUST00000140367
SMART Domains Protein: ENSMUSP00000115932
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 30 93 1.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147225
AA Change: I122T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120143
Gene: ENSMUSG00000004071
AA Change: I122T

DomainStartEndE-ValueType
low complexity region 41 59 N/A INTRINSIC
low complexity region 67 100 N/A INTRINSIC
Pfam:zf-LITAF-like 123 163 3.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152667
Predicted Effect probably benign
Transcript: ENSMUST00000154117
SMART Domains Protein: ENSMUSP00000122699
Gene: ENSMUSG00000004070

DomainStartEndE-ValueType
Pfam:Heme_oxygenase 1 65 1.9e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik C A 5: 15,656,886 probably benign Het
Arhgap32 A G 9: 32,247,190 I174V probably damaging Het
Asb15 T A 6: 24,567,212 C511S probably damaging Het
Atr C T 9: 95,921,781 A1896V probably benign Het
B3gnt4 C T 5: 123,511,099 R176C probably damaging Het
Brf1 T C 12: 112,962,475 D557G probably benign Het
Catsperg2 T A 7: 29,704,665 probably null Het
Ccdc144b T C 3: 36,035,267 probably benign Het
Ctrl C T 8: 105,932,567 E147K probably benign Het
Dennd2c T C 3: 103,166,425 V829A probably benign Het
Dync1h1 T A 12: 110,658,930 L3874Q probably damaging Het
Gm10521 T C 1: 171,896,397 S92P unknown Het
Gzf1 G A 2: 148,684,061 A151T probably benign Het
Hddc2 A G 10: 31,326,026 Y123C probably damaging Het
Hyal4 T C 6: 24,763,895 probably benign Het
Ighv16-1 T C 12: 114,068,969 N71S probably benign Het
Ing2 A T 8: 47,669,035 S159R probably benign Het
Itga1 A T 13: 114,987,661 N698K probably benign Het
Lemd2 A T 17: 27,190,728 I483N probably damaging Het
Lyst T C 13: 13,635,302 L519P probably damaging Het
Mapk10 T C 5: 102,996,648 N101S probably damaging Het
Nfatc4 A T 14: 55,832,238 E164V probably null Het
Nfkb2 T G 19: 46,309,839 probably benign Het
Nox3 A G 17: 3,682,943 V231A possibly damaging Het
Nup160 G A 2: 90,703,853 G674D probably damaging Het
Olfr364-ps1 A T 2: 37,146,536 D108V probably damaging Het
Olfr657 C T 7: 104,636,475 T267I possibly damaging Het
Otoa T G 7: 121,155,849 V998G probably benign Het
Pcnx3 A T 19: 5,673,267 M1300K probably benign Het
Pde4b A G 4: 102,590,930 probably benign Het
Rfc1 T A 5: 65,263,145 K1104I probably benign Het
Serpina1f G T 12: 103,693,502 Q174K probably damaging Het
Serping1 T C 2: 84,773,377 N107D possibly damaging Het
Surf6 A G 2: 26,899,747 S94P probably benign Het
Tctex1d4 T A 4: 117,128,597 S206T probably damaging Het
Tigd4 T A 3: 84,594,745 I323N probably damaging Het
Vmn2r28 T C 7: 5,488,162 D362G probably benign Het
Wdfy3 A G 5: 101,937,412 S739P probably damaging Het
Other mutations in Cdip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02403:Cdip1 APN 16 4768812 missense probably damaging 0.97
R1490:Cdip1 UTSW 16 4768911 missense probably damaging 0.98
R2191:Cdip1 UTSW 16 4770063 missense probably benign
R5547:Cdip1 UTSW 16 4770124 missense probably damaging 0.98
R5669:Cdip1 UTSW 16 4768815 missense probably damaging 1.00
R5982:Cdip1 UTSW 16 4770082 missense probably damaging 1.00
Posted On2014-02-04