Incidental Mutation 'IGL01614:Clptm1'
ID92318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clptm1
Ensembl Gene ENSMUSG00000002981
Gene Namecleft lip and palate associated transmembrane protein 1
SynonymsN14, HS9
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #IGL01614
Quality Score
Status
Chromosome7
Chromosomal Location19631571-19665033 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 19637700 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 269 (D269E)
Ref Sequence ENSEMBL: ENSMUSP00000051293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055242]
Predicted Effect probably benign
Transcript: ENSMUST00000055242
AA Change: D269E

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: D269E

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
low complexity region 35 52 N/A INTRINSIC
Pfam:CLPTM1 56 497 5.8e-148 PFAM
transmembrane domain 507 529 N/A INTRINSIC
low complexity region 606 628 N/A INTRINSIC
low complexity region 649 664 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208868
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T A 17: 43,424,471 S143T possibly damaging Het
Arhgap32 G T 9: 32,260,505 S1527I probably damaging Het
Atp8a2 A G 14: 60,044,988 V128A probably damaging Het
Bpi T C 2: 158,271,946 F255L probably damaging Het
E2f7 T C 10: 110,759,978 V63A probably damaging Het
Eif4e1b T A 13: 54,786,916 I184N probably damaging Het
Fam49a T C 12: 12,361,573 probably null Het
Gal3st1 T A 11: 3,998,996 L401Q probably damaging Het
Gm7808 G A 9: 19,928,146 probably benign Het
Hdac5 G A 11: 102,200,028 T741I probably benign Het
Ipo5 A G 14: 120,935,095 T522A probably benign Het
Lama5 A C 2: 180,180,864 F2832V probably damaging Het
Ltk A C 2: 119,753,487 L230R probably damaging Het
Mettl14 A T 3: 123,373,960 probably benign Het
Myom1 T C 17: 71,126,178 F1507L possibly damaging Het
Nsd3 T A 8: 25,666,079 I554K possibly damaging Het
Olfr1044 A T 2: 86,171,397 I140N possibly damaging Het
Olfr107 G A 17: 37,405,638 C30Y probably benign Het
Olfr340 T G 2: 36,452,624 I13S probably benign Het
Olfr644 C T 7: 104,068,369 V221I probably benign Het
Prr14 T A 7: 127,475,133 L279H probably damaging Het
Rbm25 G T 12: 83,659,567 D229Y probably damaging Het
Sdk2 T C 11: 113,793,858 K1926E probably damaging Het
Slc25a23 C T 17: 57,045,579 R435Q probably null Het
Srebf2 A G 15: 82,178,853 N457S probably benign Het
Stac2 T C 11: 98,052,948 D12G probably benign Het
Tal1 A C 4: 115,063,128 probably null Het
Usp25 G A 16: 77,077,117 R527Q probably damaging Het
Other mutations in Clptm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01909:Clptm1 APN 7 19655776 missense probably benign 0.37
IGL03089:Clptm1 APN 7 19637147 missense probably damaging 1.00
H8786:Clptm1 UTSW 7 19635704 missense possibly damaging 0.54
R0128:Clptm1 UTSW 7 19635007 missense probably damaging 1.00
R0835:Clptm1 UTSW 7 19635674 missense possibly damaging 0.61
R1167:Clptm1 UTSW 7 19634211 missense probably damaging 1.00
R1370:Clptm1 UTSW 7 19633872 missense possibly damaging 0.61
R1655:Clptm1 UTSW 7 19645867 missense probably benign 0.00
R1855:Clptm1 UTSW 7 19638209 missense probably benign 0.05
R2004:Clptm1 UTSW 7 19646837 missense possibly damaging 0.46
R2189:Clptm1 UTSW 7 19637145 nonsense probably null
R2203:Clptm1 UTSW 7 19633892 missense possibly damaging 0.92
R3237:Clptm1 UTSW 7 19635346 missense probably damaging 0.99
R3963:Clptm1 UTSW 7 19638196 nonsense probably null
R5416:Clptm1 UTSW 7 19633816 unclassified probably benign
R6110:Clptm1 UTSW 7 19633806 unclassified probably benign
R6474:Clptm1 UTSW 7 19635837 missense possibly damaging 0.94
R6737:Clptm1 UTSW 7 19637076 critical splice donor site probably null
R6897:Clptm1 UTSW 7 19635826 missense possibly damaging 0.94
R8144:Clptm1 UTSW 7 19633902 missense possibly damaging 0.88
R8244:Clptm1 UTSW 7 19638991 missense possibly damaging 0.46
R8374:Clptm1 UTSW 7 19638156 missense probably benign 0.13
R8438:Clptm1 UTSW 7 19645851 missense probably benign 0.00
Z1177:Clptm1 UTSW 7 19637468 critical splice donor site probably null
Posted On2013-12-09