Incidental Mutation 'R5416:Clptm1'
ID 427729
Institutional Source Beutler Lab
Gene Symbol Clptm1
Ensembl Gene ENSMUSG00000002981
Gene Name cleft lip and palate associated transmembrane protein 1
Synonyms N14, HS9
MMRRC Submission 042985-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R5416 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 19365505-19398955 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 19367741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049912] [ENSMUST00000055242] [ENSMUST00000094762] [ENSMUST00000098754] [ENSMUST00000208087]
AlphaFold Q8VBZ3
Predicted Effect probably benign
Transcript: ENSMUST00000049912
SMART Domains Protein: ENSMUSP00000050166
Gene: ENSMUSG00000002983

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 73 82 N/A INTRINSIC
Pfam:RHD 102 270 1.3e-65 PFAM
IPT 277 373 1.26e-24 SMART
low complexity region 449 464 N/A INTRINSIC
low complexity region 478 506 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000055242
AA Change: A624S
SMART Domains Protein: ENSMUSP00000051293
Gene: ENSMUSG00000002981
AA Change: A624S

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 probably benign
Transcript: ENSMUST00000094762
SMART Domains Protein: ENSMUSP00000092355
Gene: ENSMUSG00000002983

DomainStartEndE-ValueType
Pfam:RelB_leu_zip 1 84 1.2e-43 PFAM
Pfam:RHD_DNA_bind 105 273 3.7e-66 PFAM
IPT 280 376 1.26e-24 SMART
Pfam:RelB_transactiv 381 558 3.2e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098754
SMART Domains Protein: ENSMUSP00000096350
Gene: ENSMUSG00000002983

DomainStartEndE-ValueType
low complexity region 14 27 N/A INTRINSIC
low complexity region 76 85 N/A INTRINSIC
Pfam:RHD 105 273 3.7e-66 PFAM
IPT 280 376 1.26e-24 SMART
low complexity region 452 467 N/A INTRINSIC
low complexity region 481 509 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208554
Predicted Effect probably benign
Transcript: ENSMUST00000208087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207704
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,871,331 (GRCm39) E689D probably damaging Het
Acsl6 A G 11: 54,227,997 (GRCm39) E339G probably benign Het
Adcy3 G A 12: 4,259,308 (GRCm39) E861K probably damaging Het
Adrm1 C T 2: 179,817,930 (GRCm39) T394I probably benign Het
Adsl T A 15: 80,836,384 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,551 (GRCm39) C1854S probably damaging Het
C87436 A G 6: 86,442,832 (GRCm39) Y458C probably damaging Het
Cacna1e T C 1: 154,341,525 (GRCm39) D1161G probably damaging Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccr1 G T 9: 123,764,413 (GRCm39) P39H probably damaging Het
Cdh18 A G 15: 23,226,809 (GRCm39) Y90C probably damaging Het
Chadl T C 15: 81,578,100 (GRCm39) R510G probably benign Het
Clcnkb T C 4: 141,141,211 (GRCm39) T115A probably benign Het
Col24a1 A T 3: 145,020,786 (GRCm39) R386* probably null Het
Ctsj G T 13: 61,152,337 (GRCm39) L10M probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dhx40 T C 11: 86,688,517 (GRCm39) D302G probably benign Het
Edrf1 T C 7: 133,243,131 (GRCm39) F166L possibly damaging Het
Epha1 A T 6: 42,342,805 (GRCm39) M248K probably damaging Het
Evpl C A 11: 116,125,085 (GRCm39) V126L probably benign Het
Fam83d T C 2: 158,627,552 (GRCm39) C414R possibly damaging Het
Fat2 T C 11: 55,194,514 (GRCm39) N1175S possibly damaging Het
Fhad1 G A 4: 141,646,113 (GRCm39) T283I probably benign Het
Fuca1 A G 4: 135,650,291 (GRCm39) T121A probably damaging Het
Gm13941 A T 2: 110,925,079 (GRCm39) S175T unknown Het
Gpr107 T A 2: 31,075,560 (GRCm39) I357N probably damaging Het
Gpr161 T A 1: 165,149,030 (GRCm39) H466Q probably benign Het
Hsd3b5 A G 3: 98,526,466 (GRCm39) F327L probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Itgb7 A T 15: 102,125,744 (GRCm39) D628E probably benign Het
Nwd1 A G 8: 73,393,322 (GRCm39) D236G possibly damaging Het
Or56b2j C T 7: 104,352,923 (GRCm39) L50F probably benign Het
Or6d14 A T 6: 116,534,166 (GRCm39) Y260F probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 A G 18: 37,490,008 (GRCm39) Y562C probably damaging Het
Phkg2 A G 7: 127,182,107 (GRCm39) H376R possibly damaging Het
Plxnc1 G A 10: 94,673,416 (GRCm39) T1018I probably damaging Het
Ppp6r1 A T 7: 4,642,747 (GRCm39) D532E possibly damaging Het
Prkdc T C 16: 15,623,814 (GRCm39) L3259P probably damaging Het
Prkg2 A T 5: 99,091,326 (GRCm39) D641E probably benign Het
Psg26 T C 7: 18,216,525 (GRCm39) T105A probably benign Het
Ptprs T C 17: 56,742,724 (GRCm39) T473A probably damaging Het
Pwp2 G T 10: 78,018,835 (GRCm39) N57K probably damaging Het
Rnf216 G T 5: 143,001,526 (GRCm39) C733* probably null Het
Serpina1f T A 12: 103,660,203 (GRCm39) K26N possibly damaging Het
Sez6l2 T A 7: 126,561,058 (GRCm39) C448S probably damaging Het
Slc28a3 A T 13: 58,724,607 (GRCm39) L216M probably damaging Het
Sorbs1 A G 19: 40,365,433 (GRCm39) S117P probably benign Het
Sorl1 A T 9: 41,913,932 (GRCm39) C1332* probably null Het
Specc1 T C 11: 62,009,735 (GRCm39) V497A probably benign Het
Tmem204 T C 17: 25,277,300 (GRCm39) E195G probably damaging Het
Tnfrsf13b T C 11: 61,037,849 (GRCm39) probably null Het
Ttll5 G A 12: 86,059,602 (GRCm39) V1250M possibly damaging Het
Ube4a G A 9: 44,852,476 (GRCm39) T681I probably damaging Het
Ubqln3 C T 7: 103,790,879 (GRCm39) V404I probably benign Het
Yeats2 T C 16: 20,030,319 (GRCm39) S919P probably benign Het
Zfp575 C T 7: 24,286,147 (GRCm39) G3D probably benign Het
Zfp644 C T 5: 106,766,294 (GRCm39) silent 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
IGL03089:Clptm1 APN 7 19,371,072 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGATCTGTCCAGGAAGAGGG -3'
(R):5'- TGTCATCAAGATGCCTGTCATGTAC -3'

Sequencing Primer
(F):5'- TCCAGGAAGAGGGCGACAG -3'
(R):5'- AAGATGCCTGTCATGTACCGGATC -3'
Posted On 2016-09-01