Incidental Mutation 'R4685:Gm12695'
ID 353592
Institutional Source Beutler Lab
Gene Symbol Gm12695
Ensembl Gene ENSMUSG00000078639
Gene Name predicted gene 12695
Synonyms
MMRRC Submission 041936-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4685 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 96611884-96673423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96650217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 210 (S210P)
Ref Sequence ENSEMBL: ENSMUSP00000102686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107071]
AlphaFold A2AGB2
Predicted Effect probably damaging
Transcript: ENSMUST00000107071
AA Change: S210P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102686
Gene: ENSMUSG00000078639
AA Change: S210P

DomainStartEndE-ValueType
low complexity region 226 237 N/A INTRINSIC
low complexity region 360 371 N/A INTRINSIC
Meta Mutation Damage Score 0.0874 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (71/73)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,057,185 (GRCm39) D104G probably damaging Het
2810021J22Rik T C 11: 58,771,750 (GRCm39) S411P probably damaging Het
Adcy2 T C 13: 68,876,024 (GRCm39) R493G probably benign Het
Adcy8 A G 15: 64,609,287 (GRCm39) I874T probably benign Het
Ano2 G T 6: 125,957,087 (GRCm39) E619* probably null Het
Apob A G 12: 8,056,456 (GRCm39) K1613R probably benign Het
Arhgef10 T A 8: 15,006,963 (GRCm39) F476Y probably damaging Het
Bmf G A 2: 118,377,283 (GRCm39) A74V probably damaging Het
Cadps T C 14: 12,467,139 (GRCm38) E925G possibly damaging Het
Ccdc162 T C 10: 41,557,682 (GRCm39) D181G possibly damaging Het
Ccdc85c A T 12: 108,173,434 (GRCm39) C387S probably benign Het
Cntnap5a T C 1: 116,374,410 (GRCm39) V974A possibly damaging Het
Cplx3 T A 9: 57,516,483 (GRCm39) I407F probably damaging Het
Dnah7b T C 1: 46,250,488 (GRCm39) F1703S probably damaging Het
Dsg3 C A 18: 20,672,793 (GRCm39) D821E probably benign Het
Ecel1 G T 1: 87,080,668 (GRCm39) probably null Het
Edn1 A T 13: 42,458,729 (GRCm39) probably null Het
Egfr G A 11: 16,808,980 (GRCm39) C58Y probably damaging Het
Fam184a T C 10: 53,574,596 (GRCm39) N282D probably benign Het
Fhit T A 14: 9,870,091 (GRCm38) Q63L probably damaging Het
Gabarapl2 T C 8: 112,669,150 (GRCm39) V36A probably benign Het
Glis1 T C 4: 107,424,842 (GRCm39) V151A probably benign Het
Gpat4 TAGAAGA TAGA 8: 23,672,865 (GRCm39) probably benign Het
H2-M10.4 G A 17: 36,772,688 (GRCm39) A98V probably benign Het
Hhat C A 1: 192,277,362 (GRCm39) G366C probably damaging Het
Hydin C A 8: 111,189,154 (GRCm39) A1186E probably damaging Het
Itgb2 T A 10: 77,385,937 (GRCm39) probably null Het
Kank1 C T 19: 25,387,398 (GRCm39) A329V possibly damaging Het
Kdm4b T A 17: 56,708,675 (GRCm39) S1070T probably benign Het
Kyat1 A G 2: 30,078,277 (GRCm39) Y101H probably damaging Het
Map4k5 T C 12: 69,858,140 (GRCm39) K679R probably benign Het
Mill1 A T 7: 17,989,853 (GRCm39) D45V probably damaging Het
Myo3a T A 2: 22,412,233 (GRCm39) Y743N probably damaging Het
Nox4 C G 7: 86,946,716 (GRCm39) I137M probably benign Het
Odf4 A G 11: 68,813,665 (GRCm39) probably null Het
Ostf1 A T 19: 18,558,652 (GRCm39) D210E probably damaging Het
Paxip1 A T 5: 27,966,675 (GRCm39) probably null Het
Pitrm1 A G 13: 6,606,578 (GRCm39) T211A probably benign Het
Pla2g4f A G 2: 120,135,496 (GRCm39) S393P probably damaging Het
Plppr3 T C 10: 79,703,359 (GRCm39) T42A probably damaging Het
Plxna4 C A 6: 32,142,779 (GRCm39) G1559W probably damaging Het
Ppp1r13l T C 7: 19,109,308 (GRCm39) probably null Het
Prex1 C T 2: 166,480,252 (GRCm39) V163M probably damaging Het
Prl6a1 A G 13: 27,500,307 (GRCm39) T93A probably benign Het
Psg16 T C 7: 16,824,459 (GRCm39) V81A probably benign Het
Rbm33 A T 5: 28,613,280 (GRCm39) probably benign Het
Rest C T 5: 77,423,090 (GRCm39) P298L possibly damaging Het
Rhobtb3 G A 13: 76,027,051 (GRCm39) R441* probably null Het
Rims4 T A 2: 163,706,914 (GRCm39) K155* probably null Het
Rps6kb1 C T 11: 86,410,713 (GRCm39) probably null Het
Ryr2 T C 13: 11,707,532 (GRCm39) D2835G probably damaging Het
Sc5d C T 9: 42,169,946 (GRCm39) V92I probably benign Het
Sell A T 1: 163,893,829 (GRCm39) I175F probably damaging Het
Serpinb6d A G 13: 33,855,211 (GRCm39) D295G probably damaging Het
Sphk1 A G 11: 116,426,106 (GRCm39) D96G probably damaging Het
Spns3 A T 11: 72,428,096 (GRCm39) V228D probably damaging Het
Sspo A G 6: 48,469,828 (GRCm39) S4500G probably damaging Het
Syt9 T A 7: 107,035,678 (GRCm39) C232S possibly damaging Het
Terf1 A G 1: 15,889,185 (GRCm39) I176V possibly damaging Het
Tln2 C T 9: 67,209,854 (GRCm39) A428T probably damaging Het
Tmprss7 T C 16: 45,499,711 (GRCm39) N321S probably benign Het
Tomm40 A G 7: 19,435,761 (GRCm39) I323T probably benign Het
Try5 T A 6: 41,288,233 (GRCm39) Q240L possibly damaging Het
Vmn1r213 A T 13: 23,195,800 (GRCm39) I128L probably benign Het
Vmn2r80 T C 10: 79,030,162 (GRCm39) F663L possibly damaging Het
Znfx1 T A 2: 166,880,950 (GRCm39) Y278F probably damaging Het
Zpbp2 A G 11: 98,442,117 (GRCm39) 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
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
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'- TCCACAGAAAAGGCCTTGG -3'
(R):5'- CATGTCTTCGCTCAGAGCTC -3'

Sequencing Primer
(F):5'- CTTGGTCAAGGGAGAAACTAACTTC -3'
(R):5'- CGCTCAGAGCTCTTCTCAC -3'
Posted On 2015-10-21