Incidental Mutation 'IGL02541:Cgref1'
ID298263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cgref1
Ensembl Gene ENSMUSG00000029161
Gene Namecell growth regulator with EF hand domain 1
SynonymsCGR11, 1110004G24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02541
Quality Score
Status
Chromosome5
Chromosomal Location30933143-30945591 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 30934158 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031051] [ENSMUST00000031053] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]
Predicted Effect probably null
Transcript: ENSMUST00000031051
SMART Domains Protein: ENSMUSP00000031051
Gene: ENSMUSG00000029161

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
low complexity region 28 44 N/A INTRINSIC
low complexity region 50 63 N/A INTRINSIC
SCOP:d2pvba_ 113 188 1e-4 SMART
Blast:EFh 120 148 1e-9 BLAST
Blast:EFh 164 189 4e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000031053
SMART Domains Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 293 5.7e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200978
Predicted Effect probably benign
Transcript: ENSMUST00000201571
SMART Domains Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 70 2.4e-5 PFAM
Pfam:PfkB 65 249 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201621
SMART Domains Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 294 1.5e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202627
Predicted Effect probably benign
Transcript: ENSMUST00000202752
SMART Domains Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 243 5.8e-18 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,514,658 L917F possibly damaging Het
Abca6 A T 11: 110,212,267 W833R probably damaging Het
Asb15 T A 6: 24,566,266 V406D probably damaging Het
Bcl9l T C 9: 44,507,769 V968A probably benign Het
Bend7 T C 2: 4,763,305 probably null Het
Cadm2 C A 16: 66,882,883 probably null Het
Cadm2 C A 16: 66,882,882 G21V possibly damaging Het
Camta1 G A 4: 151,084,655 T1191I probably benign Het
Cep152 C T 2: 125,605,354 A425T probably damaging Het
Cep95 C A 11: 106,815,581 Q554K probably damaging Het
Clock T A 5: 76,262,672 probably null Het
Cmc2 A G 8: 116,894,144 F33L probably benign Het
Cnksr3 A G 10: 7,135,073 V258A probably damaging Het
Col6a6 G T 9: 105,732,216 N1624K probably benign Het
Cped1 T C 6: 22,120,989 I356T probably benign Het
Dpy19l2 C T 9: 24,658,647 V337I probably benign Het
E2f3 A T 13: 29,916,844 probably null Het
Eif1ad A G 19: 5,368,417 probably benign Het
Fam114a2 A T 11: 57,499,801 D302E probably benign Het
Fam129c A T 8: 71,602,782 T279S probably benign Het
Fign T C 2: 63,979,537 N463S probably benign Het
Fzr1 T C 10: 81,370,033 T220A probably damaging Het
Gm14496 G A 2: 182,000,393 R619Q probably benign Het
Gm9268 T A 7: 43,023,668 probably benign Het
Gm9966 T C 7: 95,958,784 I104T unknown Het
Itgb7 G T 15: 102,223,457 H230Q probably benign Het
Kif7 T C 7: 79,710,880 H249R possibly damaging Het
Krtap4-2 T G 11: 99,634,966 Q20P unknown Het
Mis18bp1 T C 12: 65,161,460 T160A probably damaging Het
Mpp6 A G 6: 50,183,727 I323V probably benign Het
Mrps9 T C 1: 42,862,654 probably null Het
Mum1 G A 10: 80,228,439 probably null Het
Mynn T A 3: 30,611,603 H461Q probably damaging Het
Naa25 A G 5: 121,424,531 T459A possibly damaging Het
Notch1 C T 2: 26,468,503 D1439N probably benign Het
Olfr701 A G 7: 106,818,602 E173G probably benign Het
Pcdhb3 A T 18: 37,302,145 D388V probably damaging Het
Pold3 C T 7: 100,083,672 G417S probably damaging Het
Rad17 A G 13: 100,633,443 probably benign Het
Sh3glb1 T C 3: 144,720,040 D5G probably damaging Het
Shank3 T A 15: 89,501,410 Y167N probably damaging Het
Slc3a2 A T 19: 8,707,759 Y292* probably null Het
Slc7a13 T A 4: 19,839,212 probably benign Het
Snx18 A T 13: 113,594,766 I564N probably damaging Het
Supt6 G A 11: 78,226,918 R491C probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tnrc6b C A 15: 80,879,831 D511E probably benign Het
Trio A G 15: 27,844,930 probably benign Het
Trmt12 T A 15: 58,873,802 W350R probably benign Het
Ttc1 T C 11: 43,738,821 T173A probably benign Het
Ttc39d C A 17: 80,216,446 T178K probably damaging Het
Ufl1 T A 4: 25,250,534 E693V possibly damaging Het
Vamp2 G T 11: 69,089,151 E16D unknown Het
Wdr70 C T 15: 7,884,302 W622* probably null Het
Zfp28 C T 7: 6,393,480 Q305* probably null Het
Zfp653 C A 9: 22,055,783 R602L probably damaging Het
Zzef1 T A 11: 72,872,649 V1374E probably damaging Het
Other mutations in Cgref1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02572:Cgref1 APN 5 30933567 missense probably benign
IGL03036:Cgref1 APN 5 30933593 missense probably damaging 0.96
FR4304:Cgref1 UTSW 5 30933780 unclassified probably benign
FR4449:Cgref1 UTSW 5 30933776 unclassified probably benign
FR4449:Cgref1 UTSW 5 30933778 nonsense probably null
R1340:Cgref1 UTSW 5 30945346 splice site probably benign
R1463:Cgref1 UTSW 5 30935994 unclassified probably benign
R1551:Cgref1 UTSW 5 30933585 missense probably benign 0.03
R2059:Cgref1 UTSW 5 30933645 missense possibly damaging 0.95
R5147:Cgref1 UTSW 5 30933705 missense probably benign 0.01
R6059:Cgref1 UTSW 5 30945384 missense probably damaging 0.99
Posted On2015-04-16