Incidental Mutation 'R0020:Gm12695'
ID 64734
Institutional Source Beutler Lab
Gene Symbol Gm12695
Ensembl Gene ENSMUSG00000078639
Gene Name predicted gene 12695
Synonyms
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0020 (G1)
Quality Score 115
Status Validated
Chromosome 4
Chromosomal Location 96611884-96673423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 96657972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 66 (P66A)
Ref Sequence ENSEMBL: ENSMUSP00000102686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107071]
AlphaFold A2AGB2
Predicted Effect probably damaging
Transcript: ENSMUST00000107071
AA Change: P66A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: P66A

DomainStartEndE-ValueType
low complexity region 226 237 N/A INTRINSIC
low complexity region 360 371 N/A INTRINSIC
Meta Mutation Damage Score 0.1073 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.4%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ado T C 10: 67,383,927 (GRCm39) D226G probably benign Het
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Atf2 T C 2: 73,676,628 (GRCm39) D122G possibly damaging Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Cd2bp2 G A 7: 126,792,996 (GRCm39) T342M probably damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
D130043K22Rik T A 13: 25,038,475 (GRCm39) probably benign Het
Dbh A G 2: 27,060,584 (GRCm39) probably benign Het
Dhdh T C 7: 45,137,528 (GRCm39) K53R probably benign Het
Drc3 A G 11: 60,261,371 (GRCm39) Y174C probably damaging Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbn2 G T 18: 58,238,236 (GRCm39) T587K probably damaging Het
Fhl5 A T 4: 25,200,054 (GRCm39) V260E probably benign Het
Glyr1 A G 16: 4,854,913 (GRCm39) I55T probably damaging Het
Gon4l G T 3: 88,766,244 (GRCm39) V428L probably damaging Het
Ighv6-5 T C 12: 114,380,241 (GRCm39) D92G probably null Het
Inhba A C 13: 16,200,949 (GRCm39) K170N possibly damaging Het
Kng2 A G 16: 22,816,046 (GRCm39) V317A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Map3k14 T C 11: 103,118,500 (GRCm39) E562G probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Nlrp4a A T 7: 26,149,797 (GRCm39) H468L probably damaging Het
Nphs1 G T 7: 30,162,633 (GRCm39) V357L probably benign Het
Or10aa3 T A 1: 173,878,413 (GRCm39) V158E probably damaging Het
Pclo A G 5: 14,719,687 (GRCm39) T1275A unknown Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pot1b T A 17: 55,960,429 (GRCm39) M634L probably benign Het
Ppp2r5c C T 12: 110,541,257 (GRCm39) Q469* probably null Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prss43 C A 9: 110,657,580 (GRCm39) probably benign Het
Rb1cc1 C A 1: 6,334,772 (GRCm39) N1444K possibly damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slamf9 T C 1: 172,303,082 (GRCm39) S7P possibly damaging Het
Slc35b2 T A 17: 45,877,782 (GRCm39) M303K probably damaging Het
Slc4a7 T A 14: 14,796,108 (GRCm38) F1116I probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Smarcad1 T A 6: 65,060,991 (GRCm39) probably benign Het
Tamalin T C 15: 101,128,433 (GRCm39) V157A probably damaging Het
Tns3 A C 11: 8,495,227 (GRCm39) probably null Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign Het
Other mutations in Gm12695
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Gm12695 APN 4 96,637,419 (GRCm39) missense probably damaging 1.00
IGL01016:Gm12695 APN 4 96,646,184 (GRCm39) missense probably benign 0.03
IGL02605:Gm12695 APN 4 96,650,988 (GRCm39) missense probably null 0.92
IGL02734:Gm12695 APN 4 96,612,267 (GRCm39) nonsense probably null
IGL02869:Gm12695 APN 4 96,650,370 (GRCm39) splice site probably benign
IGL02895:Gm12695 APN 4 96,612,186 (GRCm39) missense probably damaging 0.99
R0465:Gm12695 UTSW 4 96,673,312 (GRCm39) missense probably damaging 1.00
R0941:Gm12695 UTSW 4 96,616,454 (GRCm39) nonsense probably null
R0968:Gm12695 UTSW 4 96,650,303 (GRCm39) missense probably damaging 1.00
R1965:Gm12695 UTSW 4 96,651,082 (GRCm39) missense probably benign 0.16
R1983:Gm12695 UTSW 4 96,627,214 (GRCm39) missense possibly damaging 0.84
R2051:Gm12695 UTSW 4 96,658,008 (GRCm39) missense probably damaging 0.99
R2063:Gm12695 UTSW 4 96,657,963 (GRCm39) missense probably benign 0.14
R2064:Gm12695 UTSW 4 96,657,963 (GRCm39) missense probably benign 0.14
R2065:Gm12695 UTSW 4 96,657,963 (GRCm39) missense probably benign 0.14
R2066:Gm12695 UTSW 4 96,657,963 (GRCm39) missense probably benign 0.14
R2067:Gm12695 UTSW 4 96,657,963 (GRCm39) missense probably benign 0.14
R2073:Gm12695 UTSW 4 96,612,182 (GRCm39) missense possibly damaging 0.76
R2075:Gm12695 UTSW 4 96,612,182 (GRCm39) missense possibly damaging 0.76
R2233:Gm12695 UTSW 4 96,612,266 (GRCm39) missense probably damaging 1.00
R2234:Gm12695 UTSW 4 96,612,266 (GRCm39) missense probably damaging 1.00
R2327:Gm12695 UTSW 4 96,657,893 (GRCm39) missense probably benign 0.00
R2507:Gm12695 UTSW 4 96,642,426 (GRCm39) missense probably damaging 0.99
R3836:Gm12695 UTSW 4 96,650,334 (GRCm39) missense probably damaging 0.99
R4685:Gm12695 UTSW 4 96,650,217 (GRCm39) missense probably damaging 1.00
R5491:Gm12695 UTSW 4 96,657,905 (GRCm39) missense possibly damaging 0.84
R5792:Gm12695 UTSW 4 96,616,520 (GRCm39) missense probably benign 0.00
R6767:Gm12695 UTSW 4 96,650,933 (GRCm39) splice site probably null
R6786:Gm12695 UTSW 4 96,651,058 (GRCm39) missense probably damaging 1.00
R6874:Gm12695 UTSW 4 96,673,306 (GRCm39) missense probably benign 0.04
R6923:Gm12695 UTSW 4 96,658,053 (GRCm39) missense probably benign 0.00
R6978:Gm12695 UTSW 4 96,657,959 (GRCm39) missense possibly damaging 0.69
R7810:Gm12695 UTSW 4 96,619,608 (GRCm39) missense probably damaging 0.99
R8263:Gm12695 UTSW 4 96,651,046 (GRCm39) missense probably benign 0.00
R8272:Gm12695 UTSW 4 96,612,183 (GRCm39) missense possibly damaging 0.76
R8285:Gm12695 UTSW 4 96,657,990 (GRCm39) missense possibly damaging 0.76
R8924:Gm12695 UTSW 4 96,651,046 (GRCm39) missense probably benign 0.00
R9115:Gm12695 UTSW 4 96,657,846 (GRCm39) missense possibly damaging 0.69
R9444:Gm12695 UTSW 4 96,612,195 (GRCm39) missense probably damaging 1.00
R9462:Gm12695 UTSW 4 96,651,075 (GRCm39) missense probably benign 0.26
R9725:Gm12695 UTSW 4 96,616,466 (GRCm39) missense probably damaging 1.00
Z1177:Gm12695 UTSW 4 96,637,460 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCACAGTTATGTTGACCAGCTC -3'
(R):5'- CATGGTGCTCTCAGGTACATGATGC -3'

Sequencing Primer
(F):5'- GACCAGCTCAATTTGTTGTAGAC -3'
(R):5'- CTCTCAGGTACATGATGCTTAGACAG -3'
Posted On 2013-08-06