Incidental Mutation 'IGL01924:Creld1'
ID180215
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 #IGL01924
Quality Score
Status
Chromosome6
Chromosomal Location113483297-113493343 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113483960 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 20 (F20L)
Ref Sequence ENSEMBL: ENSMUSP00000032422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000058300]
Predicted Effect probably benign
Transcript: ENSMUST00000032422
AA Change: F20L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: F20L

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: ENSMUST00000135852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203668
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Apba3 G T 10: 81,273,073 A557S probably benign Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Cyp3a57 A G 5: 145,372,629 D259G probably benign Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Fbxo47 G T 11: 97,856,160 A360D probably damaging Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4788 G A 1: 139,739,206 L444F probably damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Spindoc A G 19: 7,382,677 L42P probably damaging Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Tmem213 A T 6: 38,109,438 S10C possibly damaging Het
Trav6-3 A T 14: 53,430,343 I102L probably benign Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Creld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Creld1 APN 6 113492833 missense probably damaging 0.99
IGL03061:Creld1 APN 6 113488097 missense probably damaging 1.00
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
R8457:Creld1 UTSW 6 113491738 critical splice donor site probably null
R8514:Creld1 UTSW 6 113492869 missense probably damaging 1.00
R8783:Creld1 UTSW 6 113491725 missense probably damaging 1.00
Posted On2014-05-07