Incidental Mutation 'R3052:Gm973'
ID264972
Institutional Source Beutler Lab
Gene Symbol Gm973
Ensembl Gene ENSMUSG00000047361
Gene Namepredicted gene 973
SynonymsLOC381260
MMRRC Submission 040561-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #R3052 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location59516264-59636417 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 59633140 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000114243]
Predicted Effect probably benign
Transcript: ENSMUST00000114243
SMART Domains Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361

DomainStartEndE-ValueType
low complexity region 364 375 N/A INTRINSIC
Pfam:DUF4670 583 1045 7.3e-160 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187454
Predicted Effect probably benign
Transcript: ENSMUST00000190490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191158
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,521,337 V330I probably benign Het
Adcy5 T C 16: 35,303,716 L1255P probably damaging Het
Ampd2 C T 3: 108,086,487 probably benign Het
Asb18 T A 1: 89,992,985 H149L probably damaging Het
Atp8b1 T C 18: 64,553,108 E668G probably benign Het
Axdnd1 T C 1: 156,341,870 T809A probably damaging Het
B430306N03Rik T C 17: 48,316,910 S80P probably damaging Het
Banp G A 8: 122,005,687 probably null Het
Capn2 G A 1: 182,487,772 T306M probably benign Het
Ccpg1 A T 9: 73,005,868 S229C probably damaging Het
Cep250 G T 2: 155,991,048 S1630I probably damaging Het
Ces1g C A 8: 93,335,048 V77L possibly damaging Het
Cldn8 A C 16: 88,562,731 M102R probably damaging Het
Col6a3 T A 1: 90,802,130 H1211L possibly damaging Het
Cyp2a5 A G 7: 26,842,985 I471V possibly damaging Het
Gm10384 A G 15: 36,871,752 noncoding transcript Het
Ift88 C T 14: 57,430,568 P9S probably damaging Het
Mfsd2a A G 4: 122,951,842 L172P probably damaging Het
Nav3 T A 10: 109,903,752 I119F probably damaging Het
Nbeal2 T C 9: 110,633,085 E1428G possibly damaging Het
Olfr1126 C A 2: 87,457,903 T246K probably damaging Het
Phf13 T C 4: 151,992,363 D124G possibly damaging Het
Ppp3ca T G 3: 136,797,844 S59R probably benign Het
Rsu1 A G 2: 13,170,135 probably benign Het
Rttn T C 18: 89,015,246 probably benign Het
Ryr1 A T 7: 29,053,090 V3598E probably damaging Het
Sc5d G T 9: 42,255,570 N224K probably damaging Het
Tacc2 G A 7: 130,625,496 E1323K possibly damaging Het
Tbc1d21 T A 9: 58,363,069 D141V probably damaging Het
Trp53bp2 T C 1: 182,453,782 F983L probably damaging Het
Ubxn2a T A 12: 4,891,322 K95* probably null Het
Ugt3a2 G T 15: 9,365,288 W329L probably damaging Het
Unk T C 11: 116,050,123 Y237H probably benign Het
Vcam1 A C 3: 116,124,430 probably null Het
Xpo6 T C 7: 126,104,721 N1086D probably damaging Het
Zc3h12c A T 9: 52,144,056 L132Q possibly damaging Het
Other mutations in Gm973
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Gm973 APN 1 59630279 missense probably benign 0.00
IGL01732:Gm973 APN 1 59630237 missense probably benign 0.24
IGL02124:Gm973 APN 1 59582473 nonsense probably null
IGL02251:Gm973 APN 1 59582423 missense probably benign 0.18
IGL02818:Gm973 APN 1 59541475 critical splice donor site probably null
IGL03385:Gm973 APN 1 59582470 missense probably benign 0.14
R0105:Gm973 UTSW 1 59582474 missense probably null 0.60
R0105:Gm973 UTSW 1 59582474 missense probably null 0.60
R0280:Gm973 UTSW 1 59544680 frame shift probably null
R0490:Gm973 UTSW 1 59558234 splice site probably benign
R0491:Gm973 UTSW 1 59558234 splice site probably benign
R0508:Gm973 UTSW 1 59582490 splice site probably benign
R0636:Gm973 UTSW 1 59551144 missense probably benign 0.13
R0709:Gm973 UTSW 1 59558234 splice site probably benign
R0900:Gm973 UTSW 1 59566668 missense probably benign 0.00
R1758:Gm973 UTSW 1 59634010 missense unknown
R1816:Gm973 UTSW 1 59582399 missense probably damaging 0.99
R1975:Gm973 UTSW 1 59562771 missense possibly damaging 0.50
R2166:Gm973 UTSW 1 59526739 missense possibly damaging 0.61
R3899:Gm973 UTSW 1 59625140 missense probably benign 0.00
R4181:Gm973 UTSW 1 59551240 missense possibly damaging 0.93
R4302:Gm973 UTSW 1 59551240 missense possibly damaging 0.93
R4623:Gm973 UTSW 1 59556276 missense probably damaging 1.00
R4642:Gm973 UTSW 1 59558114 missense probably damaging 1.00
R4716:Gm973 UTSW 1 59552554 nonsense probably null
R4920:Gm973 UTSW 1 59627566 missense probably benign
R4951:Gm973 UTSW 1 59541474 critical splice donor site probably null
R5214:Gm973 UTSW 1 59526721 missense probably damaging 1.00
R5225:Gm973 UTSW 1 59562700 missense probably benign 0.01
R5472:Gm973 UTSW 1 59628287 splice site probably null
R5554:Gm973 UTSW 1 59526972 missense probably benign 0.09
R5709:Gm973 UTSW 1 59552555 missense possibly damaging 0.73
R5886:Gm973 UTSW 1 59558250 intron probably benign
R6044:Gm973 UTSW 1 59628234 missense probably benign
R6046:Gm973 UTSW 1 59632350 missense unknown
R6818:Gm973 UTSW 1 59630169 missense probably damaging 0.99
R6920:Gm973 UTSW 1 59552461 missense possibly damaging 0.76
R6999:Gm973 UTSW 1 59634092 missense unknown
R7214:Gm973 UTSW 1 59562729 nonsense probably null
R7418:Gm973 UTSW 1 59526813 missense probably damaging 1.00
R7780:Gm973 UTSW 1 59558130 missense probably damaging 1.00
Z1176:Gm973 UTSW 1 59524602 start gained probably benign
Z1177:Gm973 UTSW 1 59541330 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CAGTGCTGAGGGAAAACTTCTAGG -3'
(R):5'- TTTGGTCCAAGGGAAGAGAC -3'

Sequencing Primer
(F):5'- GGTTTCTTCTAGTCTCTTAACATCTC -3'
(R):5'- AAGCTCAGCATTTCTCTCACCAG -3'
Posted On2015-02-05