Incidental Mutation 'R3956:Creld1'
ID 310692
Institutional Source Beutler Lab
Gene Symbol Creld1
Ensembl Gene ENSMUSG00000030284
Gene Name cysteine-rich with EGF-like domains 1
Synonyms
MMRRC Submission 040833-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3956 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113460317-113470304 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113469190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 340 (D340G)
Ref Sequence ENSEMBL: ENSMUSP00000032422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032422] [ENSMUST00000101059] [ENSMUST00000204134] [ENSMUST00000205170] [ENSMUST00000204268] [ENSMUST00000205075]
AlphaFold Q91XD7
Predicted Effect possibly damaging
Transcript: ENSMUST00000032422
AA Change: D340G

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032422
Gene: ENSMUSG00000030284
AA Change: D340G

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: ENSMUST00000101059
SMART Domains Protein: ENSMUSP00000098620
Gene: ENSMUSG00000045009

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 423 447 N/A INTRINSIC
transmembrane domain 463 485 N/A INTRINSIC
transmembrane domain 492 511 N/A INTRINSIC
transmembrane domain 526 548 N/A INTRINSIC
transmembrane domain 561 583 N/A INTRINSIC
transmembrane domain 588 610 N/A INTRINSIC
transmembrane domain 630 652 N/A INTRINSIC
transmembrane domain 667 689 N/A INTRINSIC
low complexity region 885 905 N/A INTRINSIC
low complexity region 927 943 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000204134
SMART Domains Protein: ENSMUSP00000145031
Gene: ENSMUSG00000045009

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 424 448 N/A INTRINSIC
transmembrane domain 464 486 N/A INTRINSIC
transmembrane domain 493 512 N/A INTRINSIC
transmembrane domain 527 549 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
transmembrane domain 589 611 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
transmembrane domain 668 690 N/A INTRINSIC
low complexity region 886 906 N/A INTRINSIC
low complexity region 928 944 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205170
SMART Domains Protein: ENSMUSP00000145183
Gene: ENSMUSG00000045009

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204920
Predicted Effect probably benign
Transcript: ENSMUST00000204268
SMART Domains Protein: ENSMUSP00000145443
Gene: ENSMUSG00000045009

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
low complexity region 424 448 N/A INTRINSIC
transmembrane domain 464 486 N/A INTRINSIC
transmembrane domain 493 512 N/A INTRINSIC
transmembrane domain 527 549 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
transmembrane domain 589 611 N/A INTRINSIC
transmembrane domain 631 653 N/A INTRINSIC
transmembrane domain 668 690 N/A INTRINSIC
low complexity region 886 906 N/A INTRINSIC
low complexity region 928 944 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205075
SMART Domains Protein: ENSMUSP00000145089
Gene: ENSMUSG00000045009

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 99 111 N/A INTRINSIC
low complexity region 125 136 N/A INTRINSIC
low complexity region 142 162 N/A INTRINSIC
low complexity region 239 252 N/A INTRINSIC
low complexity region 270 281 N/A INTRINSIC
low complexity region 307 321 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 100% (56/56)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Aagab A G 9: 63,526,442 (GRCm39) E155G probably damaging Het
Abca16 A G 7: 120,126,975 (GRCm39) N1221S probably damaging Het
Acad11 A G 9: 103,963,351 (GRCm39) probably benign Het
Acsl1 T A 8: 46,987,495 (GRCm39) L693Q probably damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
B3gat1 A G 9: 26,668,324 (GRCm39) T305A possibly damaging Het
BC051076 A G 5: 88,112,110 (GRCm39) noncoding transcript Het
Ccni A G 5: 93,331,263 (GRCm39) L236S probably damaging Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cdc45 A G 16: 18,624,180 (GRCm39) V119A probably benign Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Cyrib T C 15: 63,813,823 (GRCm39) Y158C probably damaging Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 T A 11: 69,374,847 (GRCm39) I1417L probably benign Het
Efhc1 A C 1: 21,048,890 (GRCm39) K434N probably damaging Het
Evi5l T C 8: 4,241,358 (GRCm39) V297A possibly damaging Het
Fkbp8 T G 8: 70,987,517 (GRCm39) S376A probably damaging Het
Gfod1 A T 13: 43,354,538 (GRCm39) C146S probably damaging Het
Greb1 G T 12: 16,732,300 (GRCm39) P1554T probably damaging Het
Grip1 A T 10: 119,765,931 (GRCm39) I88F probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2e A G 5: 23,701,023 (GRCm39) T121A probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mfsd2b A T 12: 4,916,848 (GRCm39) F194Y probably damaging Het
Mtmr3 A T 11: 4,441,138 (GRCm39) V504E probably damaging Het
Neb C T 2: 52,091,975 (GRCm39) V5030M possibly damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or5ac17 G A 16: 59,036,428 (GRCm39) Q183* probably null Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5al5 C T 2: 85,961,363 (GRCm39) V215I probably benign Het
Pmfbp1 A G 8: 110,256,801 (GRCm39) S502G probably benign Het
Prb1c G T 6: 132,338,814 (GRCm39) Q135K unknown Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qng1 A G 13: 58,532,203 (GRCm39) S118P probably damaging Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Riok3 T A 18: 12,276,031 (GRCm39) Y242* probably null Het
Robo2 T G 16: 73,758,755 (GRCm39) Y672S probably damaging Het
Rsbn1 A G 3: 103,835,991 (GRCm39) H343R probably damaging Het
Sar1a A T 10: 61,522,172 (GRCm39) N88I possibly damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Spmip9 A G 6: 70,890,469 (GRCm39) Y108H possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tlcd5 C A 9: 43,022,808 (GRCm39) C182F probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Top6bl T A 19: 4,742,525 (GRCm39) T214S probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Umodl1 A G 17: 31,221,837 (GRCm39) T1280A probably benign Het
Xpnpep3 A G 15: 81,335,230 (GRCm39) probably benign Het
Other mutations in Creld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01924:Creld1 APN 6 113,460,921 (GRCm39) missense probably benign
IGL01959:Creld1 APN 6 113,469,794 (GRCm39) missense probably damaging 0.99
IGL03061:Creld1 APN 6 113,465,058 (GRCm39) missense probably damaging 1.00
IGL03266:Creld1 APN 6 113,466,558 (GRCm39) missense probably benign 0.05
impregnable UTSW 6 113,466,440 (GRCm39) missense probably damaging 1.00
R1118:Creld1 UTSW 6 113,468,656 (GRCm39) missense probably benign 0.01
R1144:Creld1 UTSW 6 113,460,922 (GRCm39) missense probably benign 0.37
R1192:Creld1 UTSW 6 113,466,440 (GRCm39) missense probably damaging 1.00
R1517:Creld1 UTSW 6 113,466,745 (GRCm39) missense probably damaging 1.00
R1724:Creld1 UTSW 6 113,461,535 (GRCm39) missense possibly damaging 0.81
R1882:Creld1 UTSW 6 113,469,166 (GRCm39) missense probably damaging 1.00
R2411:Creld1 UTSW 6 113,466,737 (GRCm39) missense probably benign 0.09
R4757:Creld1 UTSW 6 113,469,208 (GRCm39) missense probably benign 0.08
R4939:Creld1 UTSW 6 113,465,140 (GRCm39) missense probably benign 0.13
R5887:Creld1 UTSW 6 113,469,860 (GRCm39) makesense probably null
R6813:Creld1 UTSW 6 113,466,530 (GRCm39) missense probably damaging 1.00
R7842:Creld1 UTSW 6 113,465,100 (GRCm39) missense probably damaging 1.00
R7971:Creld1 UTSW 6 113,468,933 (GRCm39) missense probably benign 0.02
R8357:Creld1 UTSW 6 113,468,699 (GRCm39) critical splice donor site probably null
R8457:Creld1 UTSW 6 113,468,699 (GRCm39) critical splice donor site probably null
R8514:Creld1 UTSW 6 113,469,830 (GRCm39) missense probably damaging 1.00
R8783:Creld1 UTSW 6 113,468,686 (GRCm39) missense probably damaging 1.00
R9144:Creld1 UTSW 6 113,461,468 (GRCm39) missense probably damaging 0.99
R9343:Creld1 UTSW 6 113,466,728 (GRCm39) missense probably benign 0.03
R9514:Creld1 UTSW 6 113,469,765 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTTCTGCCAAAAGGGG -3'
(R):5'- ACCAAAAGCCGACCTTGAGG -3'

Sequencing Primer
(F):5'- ATGCACACTGAGACCGTG -3'
(R):5'- AAGCCGACCTTGAGGATGCAC -3'
Posted On 2015-04-29