Incidental Mutation 'R2507:Gm12695'
ID 251300
Institutional Source Beutler Lab
Gene Symbol Gm12695
Ensembl Gene ENSMUSG00000078639
Gene Name predicted gene 12695
Synonyms
MMRRC Submission 040413-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2507 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 96611884-96673423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96642426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 301 (E301V)
Ref Sequence ENSEMBL: ENSMUSP00000102686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107071]
AlphaFold A2AGB2
Predicted Effect probably damaging
Transcript: ENSMUST00000107071
AA Change: E301V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: E301V

DomainStartEndE-ValueType
low complexity region 226 237 N/A INTRINSIC
low complexity region 360 371 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,497,681 (GRCm39) probably benign Het
4930535I16Rik G A 4: 123,811,740 (GRCm39) probably benign Het
Akr1b1 C T 6: 34,286,999 (GRCm39) E186K probably damaging Het
Apc A T 18: 34,449,590 (GRCm39) N2128I possibly damaging Het
Api5 T C 2: 94,260,162 (GRCm39) I31M probably damaging Het
Armcx4 T G X: 133,596,128 (GRCm39) V2012G possibly damaging Het
Aurka T C 2: 172,212,365 (GRCm39) E4G probably benign Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bsn T C 9: 107,993,313 (GRCm39) D813G probably damaging Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh6 A G 15: 13,041,447 (GRCm39) I539T probably benign Het
Cdhr3 T C 12: 33,088,914 (GRCm39) D756G probably benign Het
Cenph A T 13: 100,907,744 (GRCm39) D85E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clec2h A G 6: 128,650,945 (GRCm39) N75S probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 (GRCm39) N53K probably damaging Het
Cpt1b A G 15: 89,303,301 (GRCm39) F585L probably benign Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dner A T 1: 84,560,801 (GRCm39) C115S probably damaging Het
Dop1a T A 9: 86,395,170 (GRCm39) F759Y probably damaging Het
Dst T C 1: 34,050,990 (GRCm39) Y29H probably damaging Het
Dst T C 1: 34,227,498 (GRCm39) V1875A possibly damaging Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Emc2 A T 15: 43,375,094 (GRCm39) probably null Het
Erich3 A T 3: 154,404,296 (GRCm39) E51V probably null Het
Exoc2 A G 13: 31,066,348 (GRCm39) Y443H possibly damaging Het
Fbf1 T C 11: 116,046,252 (GRCm39) R200G probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Galnt4 A G 10: 98,945,148 (GRCm39) K291R possibly damaging Het
Gopc C T 10: 52,229,422 (GRCm39) probably null Het
Gria1 A T 11: 57,180,146 (GRCm39) T699S probably null Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Ikzf2 G A 1: 69,578,447 (GRCm39) A282V probably benign Het
Irak2 T C 6: 113,624,639 (GRCm39) I45T probably damaging Het
Irx1 T C 13: 72,107,939 (GRCm39) K248E probably damaging Het
Kcns3 A C 12: 11,142,087 (GRCm39) V204G possibly damaging Het
Lmo1 C A 7: 108,739,848 (GRCm39) M91I probably damaging Het
Map3k21 A G 8: 126,666,677 (GRCm39) D623G possibly damaging Het
Map4 A G 9: 109,866,551 (GRCm39) probably benign Het
Mark3 T A 12: 111,593,676 (GRCm39) V236E probably damaging Het
Med23 A G 10: 24,786,711 (GRCm39) D939G probably damaging Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Ntng2 T C 2: 29,097,531 (GRCm39) N310S probably damaging Het
Or10ak7 T C 4: 118,791,122 (GRCm39) M308V probably benign Het
Or6b3 A G 1: 92,439,100 (GRCm39) S217P probably damaging Het
Pcolce A G 5: 137,605,313 (GRCm39) V260A possibly damaging Het
Pds5b C A 5: 150,679,893 (GRCm39) T533K possibly damaging Het
Pecr A G 1: 72,301,135 (GRCm39) Y268H probably benign Het
Phax T A 18: 56,719,956 (GRCm39) F299Y probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pramel32 T A 4: 88,547,448 (GRCm39) K161N possibly damaging Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spata7 G T 12: 98,624,709 (GRCm39) A172S probably benign Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Thop1 T G 10: 80,906,098 (GRCm39) M1R probably null Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tpp2 A G 1: 44,040,609 (GRCm39) Y290C probably benign Het
Tpr A G 1: 150,268,695 (GRCm39) M1V probably null Het
Trim6 T C 7: 103,877,392 (GRCm39) F161L probably damaging Het
Ubash3b T C 9: 41,068,650 (GRCm39) K25E possibly damaging Het
Unc45b G A 11: 82,830,963 (GRCm39) probably null Het
Unc80 A G 1: 66,651,266 (GRCm39) N1537S possibly damaging Het
Usb1 T C 8: 96,069,752 (GRCm39) F100S probably damaging Het
Vmn1r17 C A 6: 57,338,244 (GRCm39) L40F probably damaging Het
Vmn1r233 A T 17: 21,214,110 (GRCm39) M280K probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp426 T C 9: 20,381,727 (GRCm39) K420R 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
R0020:Gm12695 UTSW 4 96,657,972 (GRCm39) missense probably damaging 0.96
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
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'- TAGAACGTAGCTGTGCCTTATTG -3'
(R):5'- ATGCAGCTGTCACCCAGATTAG -3'

Sequencing Primer
(F):5'- GAAAGTAAGTAGCCTGTTGACTCTTG -3'
(R):5'- CACCCAGATTAGTAAAATTAAGGTGG -3'
Posted On 2014-12-04