Incidental Mutation 'R7542:Cgref1'
ID 583937
Institutional Source Beutler Lab
Gene Symbol Cgref1
Ensembl Gene ENSMUSG00000029161
Gene Name cell growth regulator with EF hand domain 1
Synonyms CGR11, 1110004G24Rik
MMRRC Submission 045614-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7542 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 31090487-31102771 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31090937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 292 (N292K)
Ref Sequence ENSEMBL: ENSMUSP00000031051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031051] [ENSMUST00000031053] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031051
AA Change: N292K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031051
Gene: ENSMUSG00000029161
AA Change: N292K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,848 (GRCm39) T439S possibly damaging Het
Akap11 A T 14: 78,747,732 (GRCm39) S1552T Het
Akap6 A G 12: 53,116,017 (GRCm39) E1040G probably damaging Het
Alms1 A T 6: 85,606,344 (GRCm39) T2196S possibly damaging Het
Alox12e T C 11: 70,212,582 (GRCm39) Q89R possibly damaging Het
AW551984 T A 9: 39,505,927 (GRCm39) E423D possibly damaging Het
Ccpg1 T A 9: 72,919,741 (GRCm39) V452D probably damaging Het
Cdk5r1 T C 11: 80,369,190 (GRCm39) F286L probably damaging Het
Clgn A T 8: 84,122,174 (GRCm39) S32C possibly damaging Het
Csk C A 9: 57,536,283 (GRCm39) probably null Het
Dchs2 A G 3: 83,176,591 (GRCm39) T850A probably benign Het
Defb2 T C 8: 22,333,360 (GRCm39) V45A probably benign Het
Disp2 A G 2: 118,621,599 (GRCm39) Q777R probably damaging Het
Dll1 C T 17: 15,590,609 (GRCm39) C369Y probably damaging Het
Dnah7c A G 1: 46,823,658 (GRCm39) I3766V probably benign Het
Elapor1 A T 3: 108,365,543 (GRCm39) probably benign Het
Fam53a A G 5: 33,764,815 (GRCm39) M297T probably damaging Het
Fat4 A G 3: 39,035,504 (GRCm39) D3052G possibly damaging Het
Fat4 A T 3: 39,035,770 (GRCm39) I3141F possibly damaging Het
Fbxw10 T C 11: 62,741,422 (GRCm39) V180A probably benign Het
Frem2 A T 3: 53,560,000 (GRCm39) D1502E probably damaging Het
Fsip2 A T 2: 82,815,196 (GRCm39) N3643I possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Glb1l3 C A 9: 26,729,491 (GRCm39) A659S possibly damaging Het
Gm8011 A T 14: 42,288,741 (GRCm39) R175* probably null Het
Gna15 A G 10: 81,350,136 (GRCm39) S89P probably damaging Het
Grm2 A T 9: 106,528,368 (GRCm39) L172Q probably damaging Het
Iqcn A G 8: 71,161,415 (GRCm39) T203A possibly damaging Het
Kcnc3 A G 7: 44,245,138 (GRCm39) D476G possibly damaging Het
Kcnh6 A G 11: 105,905,387 (GRCm39) T216A possibly damaging Het
Kdm2a G A 19: 4,383,858 (GRCm39) probably benign Het
Lrrc9 T C 12: 72,553,094 (GRCm39) I1332T probably damaging Het
Maea T C 5: 33,529,007 (GRCm39) C317R probably damaging Het
Manba T C 3: 135,272,354 (GRCm39) V707A probably benign Het
Mcph1 C T 8: 18,681,705 (GRCm39) R281C probably benign Het
Med25 A T 7: 44,541,215 (GRCm39) D99E probably damaging Het
Megf10 C A 18: 57,322,642 (GRCm39) D62E probably benign Het
Minar1 T A 9: 89,483,964 (GRCm39) T478S probably damaging Het
Myod1 A T 7: 46,026,097 (GRCm39) M1L probably benign Het
Nav3 A T 10: 109,659,394 (GRCm39) M741K possibly damaging Het
Odf2l A C 3: 144,859,197 (GRCm39) K618T probably damaging Het
Or4c107 A T 2: 88,789,119 (GRCm39) E103V probably benign Het
Pcdha2 G A 18: 37,073,142 (GRCm39) G258R probably damaging Het
Pcdha3 G A 18: 37,080,784 (GRCm39) A509T possibly damaging Het
Pde4dip A G 3: 97,673,971 (GRCm39) V315A possibly damaging Het
Prim1 T C 10: 127,853,903 (GRCm39) V107A probably damaging Het
Pxdc1 A G 13: 34,822,146 (GRCm39) probably null Het
Rab7b C T 1: 131,639,379 (GRCm39) H182Y probably benign Het
Reln C A 5: 22,160,179 (GRCm39) G2130V probably damaging Het
Retreg1 T A 15: 25,941,296 (GRCm39) M1K probably null Het
Rras G A 7: 44,669,766 (GRCm39) R94Q probably damaging Het
Rundc3a T A 11: 102,290,871 (GRCm39) L318Q probably benign Het
Scgb2b18 A T 7: 32,872,747 (GRCm39) probably null Het
Setd1b A T 5: 123,286,510 (GRCm39) M519L unknown Het
Tep1 G A 14: 51,099,948 (GRCm39) Q426* probably null Het
Tesk1 G T 4: 43,445,941 (GRCm39) M291I probably benign Het
Tgs1 A G 4: 3,595,439 (GRCm39) D536G probably benign Het
Thbs1 C T 2: 117,951,655 (GRCm39) T825M probably damaging Het
Tmem59l T C 8: 70,937,814 (GRCm39) N189D possibly damaging Het
Trim30c A T 7: 104,031,425 (GRCm39) D463E possibly damaging Het
Trpc4 A G 3: 54,223,075 (GRCm39) Y706C probably damaging Het
Ttc13 A T 8: 125,401,842 (GRCm39) probably null Het
Tulp1 T C 17: 28,582,729 (GRCm39) K140E probably benign Het
Urb2 A G 8: 124,755,327 (GRCm39) I345V probably benign Het
Vmn2r43 T C 7: 8,258,488 (GRCm39) M242V probably benign Het
Zcwpw1 T C 5: 137,817,785 (GRCm39) V509A probably benign Het
Zfp202 T C 9: 40,122,443 (GRCm39) C402R probably benign Het
Other mutations in Cgref1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02541:Cgref1 APN 5 31,091,502 (GRCm39) critical splice donor site probably null
IGL02572:Cgref1 APN 5 31,090,911 (GRCm39) missense probably benign
IGL03036:Cgref1 APN 5 31,090,937 (GRCm39) missense probably damaging 0.96
FR4304:Cgref1 UTSW 5 31,091,124 (GRCm39) unclassified probably benign
FR4449:Cgref1 UTSW 5 31,091,122 (GRCm39) nonsense probably null
FR4449:Cgref1 UTSW 5 31,091,120 (GRCm39) unclassified probably benign
R1340:Cgref1 UTSW 5 31,102,690 (GRCm39) splice site probably benign
R1463:Cgref1 UTSW 5 31,093,338 (GRCm39) unclassified probably benign
R1551:Cgref1 UTSW 5 31,090,929 (GRCm39) missense probably benign 0.03
R2059:Cgref1 UTSW 5 31,090,989 (GRCm39) missense possibly damaging 0.95
R5147:Cgref1 UTSW 5 31,091,049 (GRCm39) missense probably benign 0.01
R6059:Cgref1 UTSW 5 31,102,728 (GRCm39) missense probably damaging 0.99
R7501:Cgref1 UTSW 5 31,102,800 (GRCm39) missense probably damaging 0.99
R8137:Cgref1 UTSW 5 31,091,749 (GRCm39) missense possibly damaging 0.93
RF064:Cgref1 UTSW 5 31,091,118 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGTCAGAGGTGGCTCTAACC -3'
(R):5'- TGCAGTCAGAAACCCAGCAG -3'

Sequencing Primer
(F):5'- GTGGCTCTAACCCCACCATATTC -3'
(R):5'- TCCCTGGGGACTAAAGAAATTAG -3'
Posted On 2019-10-17