Incidental Mutation 'IGL03061:Creld1'
ID409460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Creld1
Ensembl Gene ENSMUSG00000030284
Gene Namecysteine-rich with EGF-like domains 1
SynonymsAI843811
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03061
Quality Score
Status
Chromosome6
Chromosomal Location113483297-113493343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113488097 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 95 (E95G)
Ref Sequence ENSEMBL: ENSMUSP00000032422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000058300]
Predicted Effect probably damaging
Transcript: ENSMUST00000032422
AA Change: E95G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: E95G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:DUF3456 45 103 1.7e-9 PFAM
EGF 154 193 2.11e1 SMART
FU 208 255 1.66e-1 SMART
EGF 213 244 2.2e1 SMART
EGF_like 245 290 4.26e-3 SMART
FU 268 315 4.46e-2 SMART
EGF_CA 305 344 1.1e-7 SMART
transmembrane domain 363 382 N/A INTRINSIC
transmembrane domain 387 406 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058300
SMART Domains Protein: ENSMUSP00000055343
Gene: ENSMUSG00000030281

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:IL17_R_N 71 190 2.8e-45 PFAM
Pfam:IL17_R_N 189 432 1.3e-93 PFAM
transmembrane domain 441 460 N/A INTRINSIC
Pfam:SEFIR 473 623 7.7e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204920
Predicted Effect probably benign
Transcript: ENSMUST00000205208
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous KO is embryonic lethal: abnormal vasculature and brain and craniofacial development and reduced atrioventricular cushion size at E10.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,508,337 N106K probably damaging Het
Ak8 T C 2: 28,742,755 probably benign Het
BC016579 C T 16: 45,629,486 G190S probably damaging Het
C4bp A G 1: 130,636,717 V410A probably damaging Het
Cacna2d3 T C 14: 29,058,431 T658A probably damaging Het
Cadps2 T C 6: 23,287,660 probably null Het
Car10 G T 11: 93,490,525 V105F probably damaging Het
Car15 C T 16: 17,835,385 C306Y possibly damaging Het
Casr C T 16: 36,495,888 A530T probably benign Het
Col5a3 A G 9: 20,797,572 probably null Het
Dcstamp T A 15: 39,760,397 D366E possibly damaging Het
Dnah11 T C 12: 117,903,121 Y4095C probably damaging Het
Eps8l2 A G 7: 141,357,235 probably benign Het
Gsn T C 2: 35,282,459 probably benign Het
Ifi27 T C 12: 103,435,544 V30A possibly damaging Het
Ifit1bl2 C T 19: 34,619,724 R164Q probably benign Het
Impg2 T C 16: 56,268,416 S1102P probably damaging Het
Kif24 G T 4: 41,394,323 P984Q possibly damaging Het
Krtap29-1 T A 11: 99,978,629 Q142L possibly damaging Het
Lpar6 C T 14: 73,239,070 T157I probably benign Het
Lrrc32 A T 7: 98,499,422 T470S probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mroh9 A T 1: 163,026,502 H776Q probably damaging Het
Myh7 T C 14: 54,991,204 probably benign Het
Myh7b A G 2: 155,620,111 N309S possibly damaging Het
Myo5b A T 18: 74,634,559 T313S probably benign Het
Myo5b G A 18: 74,580,544 probably benign Het
Npas4 C T 19: 4,986,337 V600M probably damaging Het
Nrxn3 T A 12: 89,511,928 Y557* probably null Het
Olfr169 T C 16: 19,566,713 T57A possibly damaging Het
Olfr552 A G 7: 102,604,739 I128M probably damaging Het
Olfr968 T A 9: 39,772,162 T213S probably benign Het
Pcdh15 A G 10: 74,317,011 I383V probably damaging Het
Pdzrn3 C A 6: 101,151,855 D617Y probably damaging Het
Prodh2 A T 7: 30,512,833 K408* probably null Het
Ptprs T C 17: 56,418,830 I1052V probably damaging Het
Rpl14 T C 9: 120,572,127 V12A probably damaging Het
Sf3a1 C T 11: 4,175,493 R428C probably damaging Het
Sgsm2 G T 11: 74,851,136 N1009K probably damaging Het
Slc28a2 A T 2: 122,454,499 I323F probably damaging Het
Snx19 T A 9: 30,433,632 F676I probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tg A C 15: 66,671,405 D56A probably damaging Het
Tln1 G T 4: 43,545,694 A928E probably damaging Het
Tmem94 T C 11: 115,792,421 S677P possibly damaging Het
Ttc41 C A 10: 86,736,857 H698N possibly damaging Het
Vcan T C 13: 89,703,275 T1189A probably benign Het
Vmn1r215 G T 13: 23,075,918 V43F probably damaging Het
Vmn2r28 A T 7: 5,484,016 N549K probably damaging Het
Zfp598 T C 17: 24,679,592 V455A probably benign Het
Other mutations in Creld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Creld1 APN 6 113483960 missense probably benign
IGL01959:Creld1 APN 6 113492833 missense probably damaging 0.99
IGL03266:Creld1 APN 6 113489597 missense probably benign 0.05
impregnable UTSW 6 113489479 missense probably damaging 1.00
R1118:Creld1 UTSW 6 113491695 missense probably benign 0.01
R1144:Creld1 UTSW 6 113483961 missense probably benign 0.37
R1192:Creld1 UTSW 6 113489479 missense probably damaging 1.00
R1517:Creld1 UTSW 6 113489784 missense probably damaging 1.00
R1724:Creld1 UTSW 6 113484574 missense possibly damaging 0.81
R1882:Creld1 UTSW 6 113492205 missense probably damaging 1.00
R2411:Creld1 UTSW 6 113489776 missense probably benign 0.09
R3956:Creld1 UTSW 6 113492229 missense possibly damaging 0.68
R4757:Creld1 UTSW 6 113492247 missense probably benign 0.08
R4939:Creld1 UTSW 6 113488179 missense probably benign 0.13
R5887:Creld1 UTSW 6 113492899 makesense probably null
R6813:Creld1 UTSW 6 113489569 missense probably damaging 1.00
R7842:Creld1 UTSW 6 113488139 missense probably damaging 1.00
R7971:Creld1 UTSW 6 113491972 missense probably benign 0.02
R8357:Creld1 UTSW 6 113491738 critical splice donor site probably null
Posted On2016-08-02