Incidental Mutation 'R5713:Gm26627'
ID 501917
Institutional Source Beutler Lab
Gene Symbol Gm26627
Ensembl Gene ENSMUSG00000097137
Gene Name predicted gene, 26627
Synonyms
MMRRC Submission 043335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R5713 (G1)
Quality Score 70
Status Validated
Chromosome 6
Chromosomal Location 29507724-29509697 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 29507850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078112] [ENSMUST00000091391] [ENSMUST00000101614] [ENSMUST00000161237]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000078112
SMART Domains Protein: ENSMUSP00000077251
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1fxkc_ 64 91 7e-3 SMART
VWC 136 190 1.41e-13 SMART
VWC 194 250 1.24e-9 SMART
VWC 255 311 4.55e-8 SMART
VWC 314 369 8.88e-11 SMART
VWC 428 484 9.15e-13 SMART
VWC 487 543 7.61e-10 SMART
VWC 546 601 4.05e-5 SMART
VWC 604 660 8.28e-11 SMART
VWC 667 723 6.58e-5 SMART
VWC 726 780 2.14e-4 SMART
VWC 783 839 1.98e-8 SMART
VWC 842 898 1.35e-1 SMART
VWC 901 957 5.77e-10 SMART
VWC 960 1015 1.21e-3 SMART
VWC 1018 1083 2.44e-8 SMART
VWC 1090 1143 1.05e-3 SMART
VWC 1150 1207 2.93e-11 SMART
Pfam:VWD 1214 1254 4.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091391
SMART Domains Protein: ENSMUSP00000088954
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1fxkc_ 64 91 7e-3 SMART
VWC 136 190 1.41e-13 SMART
VWC 194 250 1.24e-9 SMART
VWC 255 311 4.55e-8 SMART
VWC 314 369 8.88e-11 SMART
VWC 428 484 9.15e-13 SMART
VWC 487 543 7.61e-10 SMART
VWC 546 601 4.05e-5 SMART
VWC 604 660 8.28e-11 SMART
VWC 667 723 6.58e-5 SMART
VWC 726 780 2.14e-4 SMART
VWC 783 839 1.98e-8 SMART
VWC 842 898 1.35e-1 SMART
VWC 901 957 5.77e-10 SMART
VWC 960 1015 1.21e-3 SMART
VWC 1018 1082 6.53e-9 SMART
VWC 1089 1142 1.05e-3 SMART
VWC 1149 1206 2.93e-11 SMART
Pfam:VWD 1213 1253 4.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101614
SMART Domains Protein: ENSMUSP00000099135
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:d1fxkc_ 64 91 8e-3 SMART
VWC 136 190 1.41e-13 SMART
VWC 194 250 1.24e-9 SMART
VWC 255 311 4.55e-8 SMART
VWC 314 369 8.88e-11 SMART
VWC 428 484 9.15e-13 SMART
VWC 487 543 7.61e-10 SMART
VWC 546 601 4.05e-5 SMART
VWC 604 660 8.28e-11 SMART
VWC 667 723 6.58e-5 SMART
VWC 726 780 2.14e-4 SMART
VWC 783 839 1.98e-8 SMART
VWC 842 898 1.35e-1 SMART
VWC 901 957 5.77e-10 SMART
VWC 960 1015 1.21e-3 SMART
VWC 1018 1083 2.44e-8 SMART
VWC 1090 1143 1.05e-3 SMART
VWC 1150 1207 2.93e-11 SMART
VWD 1201 1362 6.09e-50 SMART
C8 1404 1479 1.55e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161237
SMART Domains Protein: ENSMUSP00000124097
Gene: ENSMUSG00000059022

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
coiled coil region 60 92 N/A INTRINSIC
internal_repeat_1 94 117 8.56e-6 PROSPERO
internal_repeat_1 136 159 8.56e-6 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181540
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,889,414 (GRCm39) Y431* probably null Het
Abtb3 A T 10: 85,487,516 (GRCm39) I995F probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arid1b C A 17: 5,387,091 (GRCm39) R1515S probably damaging Het
Atp5mc3 A G 2: 73,739,651 (GRCm39) V63A probably benign Het
Bmp6 C T 13: 38,682,928 (GRCm39) P473S probably damaging Het
Casp3 C A 8: 47,089,349 (GRCm39) T199K probably damaging Het
Ccl3 C T 11: 83,540,066 (GRCm39) C13Y possibly damaging Het
Cdc42bpa T C 1: 179,911,975 (GRCm39) S518P probably benign Het
Clic3 A T 2: 25,348,179 (GRCm39) I109F probably damaging Het
Dnah9 T A 11: 65,916,049 (GRCm39) D2301V possibly damaging Het
Gm4887 A T 7: 104,471,000 (GRCm39) noncoding transcript Het
Hc A C 2: 34,903,543 (GRCm39) I1037S probably damaging Het
Il2rb A G 15: 78,376,048 (GRCm39) M1T probably null Het
Ing5 T A 1: 93,740,452 (GRCm39) D124E probably benign Het
Jak2 A G 19: 29,248,793 (GRCm39) E90G probably damaging Het
Kalrn A T 16: 33,836,949 (GRCm39) I522N probably benign Het
Lipa A T 19: 34,500,832 (GRCm39) H71Q probably benign Het
Lmnb2 C T 10: 80,741,921 (GRCm39) V57M probably damaging Het
Mllt3 A T 4: 87,759,448 (GRCm39) M200K probably benign Het
Mtpap G A 18: 4,396,280 (GRCm39) S524N probably benign Het
Mup21 C G 4: 62,068,511 (GRCm39) E52Q probably damaging Het
Nasp A G 4: 116,471,558 (GRCm39) F90L probably benign Het
Nr1d1 T C 11: 98,661,237 (GRCm39) D343G probably benign Het
Otop2 T A 11: 115,219,870 (GRCm39) F237I probably damaging Het
Pax4 A G 6: 28,446,184 (GRCm39) I103T probably damaging Het
Pde4a T A 9: 21,114,813 (GRCm39) S430T probably damaging Het
Phf20l1 A G 15: 66,508,669 (GRCm39) N843D possibly damaging Het
Pla2g7 T A 17: 43,905,183 (GRCm39) M37K probably benign Het
Plcb3 T C 19: 6,935,060 (GRCm39) I864V probably damaging Het
Prr16 A G 18: 51,435,910 (GRCm39) T130A probably damaging Het
Rbm24 A G 13: 46,582,780 (GRCm39) D233G probably damaging Het
Rps29 C A 12: 69,205,502 (GRCm39) R32L probably benign Het
Serpind1 A G 16: 17,154,851 (GRCm39) E226G probably damaging Het
Siglecg A T 7: 43,058,226 (GRCm39) I38F probably damaging Het
Slc26a8 T A 17: 28,880,853 (GRCm39) M308L probably benign Het
Supv3l1 A G 10: 62,266,283 (GRCm39) V631A possibly damaging Het
Tcf12 T C 9: 71,792,545 (GRCm39) *58W probably null Het
Trgc2 T A 13: 19,491,515 (GRCm39) probably benign Het
Usp34 T A 11: 23,293,515 (GRCm39) V203E possibly damaging Het
Vmn2r108 A G 17: 20,691,290 (GRCm39) L411P probably damaging Het
Zfp874a A T 13: 67,597,476 (GRCm39) D42E probably benign Het
Predicted Primers PCR Primer
(F):5'- TACTTAGGACTCCTTGGCAGG -3'
(R):5'- CCCTGAACAAAGACTGGGTG -3'

Sequencing Primer
(F):5'- AGTTCAGCAATCCCTGTCTGG -3'
(R):5'- AAGACTGGGTGGGCGGC -3'
Posted On 2017-12-15