Incidental Mutation 'R5669:Cdip1'
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ID442540
Institutional Source Beutler Lab
Gene Symbol Cdip1
Ensembl Gene ENSMUSG00000004071
Gene Namecell death inducing Trp53 target 1
SynonymsCDIP, 5730403B10Rik, 2700048O17Rik
MMRRC Submission 043312-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.331) question?
Stock #R5669 (G1)
Quality Score225
Status Not validated
Chromosome16
Chromosomal Location4750348-4790292 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4768815 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 149 (I149F)
Ref Sequence ENSEMBL: ENSMUSP00000113889 (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: I149F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004173
Gene: ENSMUSG00000004071
AA Change: I149F

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 possibly damaging
Transcript: ENSMUST00000117713
AA Change: I132F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113618
Gene: ENSMUSG00000004071
AA Change: I132F

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: I149F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113889
Gene: ENSMUSG00000004071
AA Change: I149F

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: I139F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120143
Gene: ENSMUSG00000004071
AA Change: I139F

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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
Akap9 T A 5: 4,050,540 L2734* probably null Het
Aldh1a1 T C 19: 20,610,920 I25T probably damaging Het
Astl G T 2: 127,347,279 R175L probably damaging Het
BC035947 A T 1: 78,497,913 C661S probably damaging Het
Cd160 C T 3: 96,808,898 probably benign Het
Cdc42bpb C T 12: 111,302,013 probably null Het
Cfap65 T C 1: 74,924,968 Y607C probably damaging Het
Col6a5 A G 9: 105,925,998 I1256T unknown Het
Copb1 A G 7: 114,237,585 V336A probably damaging Het
Ddx42 A T 11: 106,241,819 D556V probably damaging Het
Dlk1 T C 12: 109,460,038 V279A probably benign Het
Fbll1 T C 11: 35,797,584 N284S probably benign Het
Fbxw21 A T 9: 109,145,510 I314N probably benign Het
Foxa3 T C 7: 19,014,251 T317A probably benign Het
Gm14139 A G 2: 150,192,178 I140V probably benign Het
Gpr37 A T 6: 25,669,352 C498S probably benign Het
Hapln3 G T 7: 79,117,496 probably null Het
Igkv4-54 A G 6: 69,631,848 V29A possibly damaging Het
Itgb8 T A 12: 119,190,628 I225F probably damaging Het
Kcnk3 A G 5: 30,622,349 T248A probably damaging Het
Kcnv1 T C 15: 45,114,252 Q130R possibly damaging Het
Lrp1b T C 2: 41,111,038 H2058R probably damaging Het
Macf1 T A 4: 123,476,225 E1581V probably damaging Het
Mga A G 2: 119,903,426 N252D probably damaging Het
Nadsyn1 C T 7: 143,807,431 G335S probably damaging Het
Olfr1115 T C 2: 87,252,441 V168A probably benign Het
Olfr58 T C 9: 19,783,757 F208S probably benign Het
Pak7 G A 2: 136,116,284 P295S probably damaging Het
Pcsk1 T A 13: 75,130,102 S595T probably benign Het
Pepd T C 7: 35,040,674 V324A probably benign Het
Pml C T 9: 58,247,063 D176N probably benign Het
Popdc3 T A 10: 45,316,433 I163N probably damaging Het
Ppp1r13l A C 7: 19,373,022 T481P probably benign Het
Pramef12 T C 4: 144,395,843 I44V probably benign Het
Prlh A G 1: 90,953,120 T5A probably benign Het
Prom1 A G 5: 44,012,943 F638S possibly damaging Het
Prpf8 T A 11: 75,504,738 L1897H probably damaging Het
Ret T C 6: 118,184,243 T91A probably benign Het
Retsat A G 6: 72,606,010 S176G probably benign Het
Rnd2 C T 11: 101,468,999 L57F probably damaging Het
Rnf213 T C 11: 119,458,785 L3823P possibly damaging Het
Rnf31 C T 14: 55,596,704 A653V probably damaging Het
Rps6kl1 T C 12: 85,147,867 D90G probably damaging Het
Scarb1 A G 5: 125,300,387 Y194H probably damaging Het
Scube2 C T 7: 109,825,439 A556T probably benign Het
Serpinb1a A G 13: 32,845,316 L243P probably damaging Het
Slc39a4 A C 15: 76,614,163 L358R probably damaging Het
Slitrk5 A G 14: 111,681,623 D893G probably damaging Het
Srgap1 C A 10: 121,804,850 V681L probably benign Het
Tmprss6 A T 15: 78,454,956 M262K possibly damaging Het
Ttf2 T A 3: 100,951,117 K719* probably null Het
Vmn1r62 T A 7: 5,675,737 L139* probably null Het
Other mutations in Cdip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Cdip1 APN 16 4768865 missense probably damaging 0.98
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
R5982:Cdip1 UTSW 16 4770082 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCGTCACATCCTTGAAG -3'
(R):5'- ACCTATGGGCTATTATCCACCAG -3'

Sequencing Primer
(F):5'- CATCCTTGAAGTCATTGATGAGGCAG -3'
(R):5'- GGACCCTACCCACCAGG -3'
Posted On2016-11-09