Incidental Mutation 'IGL03089:Clptm1'
ID 418272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clptm1
Ensembl Gene ENSMUSG00000002981
Gene Name cleft lip and palate associated transmembrane protein 1
Synonyms N14, HS9
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # IGL03089
Quality Score
Status
Chromosome 7
Chromosomal Location 19365505-19398955 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19371072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 355 (Y355H)
Ref Sequence ENSEMBL: ENSMUSP00000051293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055242]
AlphaFold Q8VBZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000055242
AA Change: Y355H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: Y355H

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 A G 3: 95,584,556 (GRCm39) S947P probably damaging Het
Agl T A 3: 116,574,672 (GRCm39) H709L probably damaging Het
Alpi T A 1: 87,027,830 (GRCm39) D250V probably benign Het
Anapc4 A G 5: 53,023,740 (GRCm39) S735G probably benign Het
Ank1 A T 8: 23,594,848 (GRCm39) I611L probably benign Het
Canx A G 11: 50,195,309 (GRCm39) V253A possibly damaging Het
Cbfa2t3 A T 8: 123,361,873 (GRCm39) I383N probably damaging Het
Ccn3 C T 15: 54,612,680 (GRCm39) R230C possibly damaging Het
Cdc23 T C 18: 34,767,513 (GRCm39) Y519C probably damaging Het
Celsr3 T A 9: 108,703,806 (GRCm39) N96K probably benign Het
Col6a5 C T 9: 105,811,038 (GRCm39) S827N unknown Het
Cyp21a1 G T 17: 35,022,420 (GRCm39) probably null Het
Cyp24a1 T G 2: 170,327,886 (GRCm39) H452P probably damaging Het
Cyp2c39 T A 19: 39,552,295 (GRCm39) H329Q probably benign Het
D630003M21Rik C T 2: 158,058,664 (GRCm39) R412Q probably benign Het
Dennd1b G A 1: 139,029,767 (GRCm39) R308Q possibly damaging Het
Deup1 T C 9: 15,519,096 (GRCm39) S137G possibly damaging Het
Dmbt1 T A 7: 130,712,778 (GRCm39) I1583N probably damaging Het
Dvl1 G A 4: 155,939,609 (GRCm39) V320M probably damaging Het
Elmod3 A G 6: 72,546,299 (GRCm39) S254P probably damaging Het
Emsy G A 7: 98,286,473 (GRCm39) Q226* probably null Het
Ephb6 C A 6: 41,591,108 (GRCm39) D88E probably damaging Het
Exoc1 A G 5: 76,690,005 (GRCm39) M182V possibly damaging Het
Fbxw4 T G 19: 45,580,160 (GRCm39) probably benign Het
Fgr A G 4: 132,713,577 (GRCm39) D35G probably damaging Het
Gm20547 A T 17: 35,080,008 (GRCm39) D366E probably damaging Het
Gucy1a1 T C 3: 82,004,988 (GRCm39) N599S probably damaging Het
Ighg2b G A 12: 113,270,298 (GRCm39) P240L probably damaging Het
Jak3 A G 8: 72,138,727 (GRCm39) D975G probably benign Het
Klhl26 A T 8: 70,908,283 (GRCm39) N24K probably benign Het
Letm1 T A 5: 33,918,202 (GRCm39) E314D probably damaging Het
Lin54 A T 5: 100,598,852 (GRCm39) F319L probably damaging Het
Lrp5 A T 19: 3,670,314 (GRCm39) probably null Het
Lvrn T C 18: 47,013,776 (GRCm39) F486S probably damaging Het
Or1e19 T C 11: 73,316,009 (GRCm39) T267A probably benign Het
Or2h1b A G 17: 37,462,534 (GRCm39) C110R probably damaging Het
Or4c113 T C 2: 88,885,357 (GRCm39) R138G probably benign Het
Or51m1 A C 7: 103,578,329 (GRCm39) I100L probably benign Het
Or8g54 A T 9: 39,706,977 (GRCm39) Y102F probably benign Het
Pramel24 A G 4: 143,452,703 (GRCm39) T45A probably benign Het
Sap30bp T A 11: 115,848,214 (GRCm39) M112K possibly damaging Het
Sbno1 A G 5: 124,525,374 (GRCm39) probably benign Het
Slc30a5 T C 13: 100,950,338 (GRCm39) I307V probably benign Het
Trim37 T A 11: 87,080,963 (GRCm39) D21E probably damaging Het
Usp34 T C 11: 23,396,958 (GRCm39) F614S possibly damaging Het
Usp39 A C 6: 72,305,622 (GRCm39) F387C probably damaging Het
Vipas39 C T 12: 87,300,028 (GRCm39) C149Y probably damaging Het
Vmn2r107 C A 17: 20,595,974 (GRCm39) H842Q probably benign Het
Vps18 T A 2: 119,123,658 (GRCm39) V195E probably benign Het
Vsx1 A G 2: 150,527,510 (GRCm39) probably benign Het
Other mutations in Clptm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01614:Clptm1 APN 7 19,371,625 (GRCm39) missense probably benign 0.14
IGL01909:Clptm1 APN 7 19,389,701 (GRCm39) missense probably benign 0.37
H8786:Clptm1 UTSW 7 19,369,629 (GRCm39) missense possibly damaging 0.54
R0128:Clptm1 UTSW 7 19,368,932 (GRCm39) missense probably damaging 1.00
R0835:Clptm1 UTSW 7 19,369,599 (GRCm39) missense possibly damaging 0.61
R1167:Clptm1 UTSW 7 19,368,136 (GRCm39) missense probably damaging 1.00
R1370:Clptm1 UTSW 7 19,367,797 (GRCm39) missense possibly damaging 0.61
R1655:Clptm1 UTSW 7 19,379,792 (GRCm39) missense probably benign 0.00
R1855:Clptm1 UTSW 7 19,372,134 (GRCm39) missense probably benign 0.05
R2004:Clptm1 UTSW 7 19,380,762 (GRCm39) missense possibly damaging 0.46
R2189:Clptm1 UTSW 7 19,371,070 (GRCm39) nonsense probably null
R2203:Clptm1 UTSW 7 19,367,817 (GRCm39) missense possibly damaging 0.92
R3237:Clptm1 UTSW 7 19,369,271 (GRCm39) missense probably damaging 0.99
R3963:Clptm1 UTSW 7 19,372,121 (GRCm39) nonsense probably null
R5416:Clptm1 UTSW 7 19,367,741 (GRCm39) unclassified probably benign
R6110:Clptm1 UTSW 7 19,367,731 (GRCm39) unclassified probably benign
R6474:Clptm1 UTSW 7 19,369,762 (GRCm39) missense possibly damaging 0.94
R6737:Clptm1 UTSW 7 19,371,001 (GRCm39) critical splice donor site probably null
R6897:Clptm1 UTSW 7 19,369,751 (GRCm39) missense possibly damaging 0.94
R8144:Clptm1 UTSW 7 19,367,827 (GRCm39) missense possibly damaging 0.88
R8244:Clptm1 UTSW 7 19,372,916 (GRCm39) missense possibly damaging 0.46
R8374:Clptm1 UTSW 7 19,372,081 (GRCm39) missense probably benign 0.13
R8438:Clptm1 UTSW 7 19,379,776 (GRCm39) missense probably benign 0.00
R8885:Clptm1 UTSW 7 19,372,932 (GRCm39) missense probably damaging 1.00
R9399:Clptm1 UTSW 7 19,367,842 (GRCm39) missense probably damaging 1.00
R9467:Clptm1 UTSW 7 19,371,449 (GRCm39) missense probably benign 0.04
R9529:Clptm1 UTSW 7 19,371,600 (GRCm39) missense probably benign 0.17
R9601:Clptm1 UTSW 7 19,369,763 (GRCm39) missense probably damaging 1.00
Z1177:Clptm1 UTSW 7 19,371,393 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02