Incidental Mutation 'R4747:Gm12258'
ID 357210
Institutional Source Beutler Lab
Gene Symbol Gm12258
Ensembl Gene ENSMUSG00000072915
Gene Name predicted gene 12258
Synonyms
MMRRC Submission 042029-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4747 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 58737984-58752782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58750422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 532 (H532Q)
Ref Sequence ENSEMBL: ENSMUSP00000117644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093768] [ENSMUST00000139337]
AlphaFold Q5NC63
Predicted Effect probably damaging
Transcript: ENSMUST00000093768
AA Change: H54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091282
Gene: ENSMUSG00000072915
AA Change: H54Q

DomainStartEndE-ValueType
ZnF_C2H2 8 30 5.21e-4 SMART
ZnF_C2H2 36 58 1.03e-2 SMART
ZnF_C2H2 64 86 2.4e-3 SMART
ZnF_C2H2 92 114 4.17e-3 SMART
ZnF_C2H2 120 142 8.34e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000139337
AA Change: H532Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: H532Q

DomainStartEndE-ValueType
KRAB 56 116 1.8e-32 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik A G 1: 63,795,568 (GRCm39) probably benign Het
Acadvl G T 11: 69,903,334 (GRCm39) N340K probably damaging Het
Adgrl4 T A 3: 151,213,077 (GRCm39) N372K probably benign Het
Adh1 G A 3: 137,994,642 (GRCm39) G321S probably damaging Het
Ankrd26 G T 6: 118,504,718 (GRCm39) N730K probably benign Het
Aoc2 A T 11: 101,219,646 (GRCm39) probably null Het
Arhgef4 A G 1: 34,762,355 (GRCm39) E537G unknown Het
Ccdc7b T C 8: 129,904,716 (GRCm39) V118A probably benign Het
Ccdc88b T A 19: 6,833,509 (GRCm39) R219W probably damaging Het
Ccdc97 T C 7: 25,418,348 (GRCm39) probably null Het
Cfhr4 A T 1: 139,625,922 (GRCm39) C792S probably damaging Het
Ciao3 A T 17: 25,999,327 (GRCm39) Y247F probably benign Het
Cnot1 T C 8: 96,501,310 (GRCm39) N86S probably benign Het
Comp T C 8: 70,829,352 (GRCm39) C310R probably damaging Het
Crtc2 A T 3: 90,167,518 (GRCm39) N281Y probably damaging Het
Cryl1 T C 14: 57,550,559 (GRCm39) K102E probably damaging Het
Csf2ra G A 19: 61,214,491 (GRCm39) R225* probably null Het
Dao A T 5: 114,150,693 (GRCm39) D99V probably benign Het
Dgkd A G 1: 87,861,889 (GRCm39) T815A probably damaging Het
Dhrs7 T C 12: 72,699,892 (GRCm39) T247A probably benign Het
Dnah7c G C 1: 46,572,328 (GRCm39) D934H probably damaging Het
Dnajc15 T C 14: 78,081,896 (GRCm39) Y82C probably benign Het
Dnajc4 T C 19: 6,966,872 (GRCm39) Q152R probably damaging Het
Dsc1 T C 18: 20,227,615 (GRCm39) K541R probably damaging Het
Elp4 G A 2: 105,624,952 (GRCm39) R196C probably damaging Het
Epha8 GC G 4: 136,666,006 (GRCm39) probably null Het
Ercc6 T C 14: 32,291,864 (GRCm39) V1076A probably benign Het
Fgd4 T C 16: 16,241,793 (GRCm39) Y677C probably damaging Het
Fndc3b C A 3: 27,483,114 (GRCm39) C1028F probably damaging Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gabrr3 T A 16: 59,268,277 (GRCm39) probably null Het
Garem1 C A 18: 21,263,000 (GRCm39) V605L probably benign Het
Gbp7 A T 3: 142,248,778 (GRCm39) D347V probably damaging Het
Gdpd4 A G 7: 97,610,840 (GRCm39) T87A possibly damaging Het
Herc2 A G 7: 55,756,141 (GRCm39) E727G possibly damaging Het
Hfm1 G A 5: 107,065,389 (GRCm39) H97Y probably benign Het
Idua G T 5: 108,828,902 (GRCm39) R335L probably damaging Het
Ifi207 A G 1: 173,556,633 (GRCm39) S702P probably benign Het
Kif16b A T 2: 142,699,346 (GRCm39) V78D probably damaging Het
Klra17 T A 6: 129,849,232 (GRCm39) D114V probably damaging Het
Krt76 A G 15: 101,794,180 (GRCm39) S481P probably damaging Het
Lhfpl5 A G 17: 28,798,950 (GRCm39) D153G probably damaging Het
Med21 T A 6: 146,550,700 (GRCm39) D70E possibly damaging Het
Mroh3 A T 1: 136,113,237 (GRCm39) M739K probably benign Het
Myo1a A G 10: 127,550,307 (GRCm39) E549G probably damaging Het
Neu1 A G 17: 35,153,359 (GRCm39) D294G possibly damaging Het
Nmur2 A T 11: 55,931,105 (GRCm39) I202K probably benign Het
Nop2 T A 6: 125,114,057 (GRCm39) D174E probably benign Het
Ogfr A T 2: 180,236,216 (GRCm39) H267L probably damaging Het
Or10p1 G T 10: 129,444,053 (GRCm39) A99E possibly damaging Het
Or5m8 A G 2: 85,822,271 (GRCm39) T37A probably damaging Het
P2ry13 T A 3: 59,117,308 (GRCm39) I157F probably benign Het
Pank4 T C 4: 155,063,989 (GRCm39) V660A probably damaging Het
Pax6 C A 2: 105,526,847 (GRCm39) P251Q probably benign Het
Pcdhb13 T C 18: 37,577,868 (GRCm39) Y749H probably damaging Het
Pcdhga3 C A 18: 37,809,799 (GRCm39) Q751K probably benign Het
Pcnt C T 10: 76,272,299 (GRCm39) E186K possibly damaging Het
Pecam1 A T 11: 106,575,072 (GRCm39) F613I probably benign Het
Pias2 T C 18: 77,240,488 (GRCm39) *615Q probably null Het
Plb1 A T 5: 32,507,003 (GRCm39) M1193L probably benign Het
Pomgnt1 T C 4: 116,013,396 (GRCm39) L506P probably damaging Het
Qrfp T C 2: 31,698,852 (GRCm39) T27A probably damaging Het
Relb C A 7: 19,361,847 (GRCm39) probably null Het
Resf1 A T 6: 149,228,392 (GRCm39) E479D probably damaging Het
Rgl1 G T 1: 152,400,450 (GRCm39) C685* probably null Het
Ric8b A G 10: 84,753,628 (GRCm39) Y8C probably benign Het
Rrp36 G A 17: 46,980,893 (GRCm39) A161V possibly damaging Het
Samd9l G A 6: 3,375,504 (GRCm39) Q586* probably null Het
Sbf1 C T 15: 89,186,916 (GRCm39) D821N probably damaging Het
Septin8 G C 11: 53,427,545 (GRCm39) A255P probably damaging Het
Skp2 T C 15: 9,113,927 (GRCm39) T329A possibly damaging Het
Slc15a2 C T 16: 36,592,498 (GRCm39) V220M probably damaging Het
Slc25a11 T A 11: 70,536,782 (GRCm39) T63S possibly damaging Het
Sowahc T C 10: 59,058,983 (GRCm39) I373T probably benign Het
Sptbn2 T A 19: 4,798,182 (GRCm39) M1969K probably benign Het
St14 G A 9: 31,015,053 (GRCm39) T315M possibly damaging Het
Tagap G A 17: 8,151,030 (GRCm39) R284H probably benign Het
Tdpoz3 T A 3: 93,733,476 (GRCm39) S50R possibly damaging Het
Thoc5 A G 11: 4,854,187 (GRCm39) D182G probably damaging Het
Tinag A G 9: 76,904,238 (GRCm39) V395A probably benign Het
Tmc8 A G 11: 117,683,550 (GRCm39) S702G probably benign Het
Tmem202 A G 9: 59,426,477 (GRCm39) S230P possibly damaging Het
Tmem203 T C 2: 25,145,764 (GRCm39) V28A probably benign Het
Traf3ip1 A T 1: 91,455,479 (GRCm39) S647C probably damaging Het
Tram1 A T 1: 13,659,870 (GRCm39) I26N probably damaging Het
Ttc6 A T 12: 57,721,478 (GRCm39) D989V possibly damaging Het
Ttll6 A G 11: 96,036,372 (GRCm39) T334A possibly damaging Het
Ttn A T 2: 76,750,086 (GRCm39) D3654E probably damaging Het
Ufd1 T G 16: 18,639,832 (GRCm39) V112G probably damaging Het
Usp9y A T Y: 1,391,284 (GRCm39) Y629N possibly damaging Het
Vmn2r1 A G 3: 63,989,267 (GRCm39) I69V probably benign Het
Zfp180 A T 7: 23,805,246 (GRCm39) Y555F probably damaging Het
Zfp438 T C 18: 5,214,403 (GRCm39) N185S probably benign Het
Zfp445 C T 9: 122,686,215 (GRCm39) V15I possibly damaging Het
Zfp462 A G 4: 55,013,476 (GRCm39) E1814G probably benign Het
Other mutations in Gm12258
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Gm12258 APN 11 58,746,896 (GRCm39) missense probably benign
IGL01391:Gm12258 APN 11 58,739,520 (GRCm39) missense probably benign 0.03
IGL03081:Gm12258 APN 11 58,749,085 (GRCm39) missense probably benign 0.07
R1521:Gm12258 UTSW 11 58,750,381 (GRCm39) missense probably damaging 1.00
R1653:Gm12258 UTSW 11 58,749,113 (GRCm39) missense possibly damaging 0.68
R3895:Gm12258 UTSW 11 58,749,375 (GRCm39) nonsense probably null
R4065:Gm12258 UTSW 11 58,749,352 (GRCm39) missense probably benign 0.08
R4066:Gm12258 UTSW 11 58,749,352 (GRCm39) missense probably benign 0.08
R4803:Gm12258 UTSW 11 58,749,856 (GRCm39) missense probably benign 0.06
R5554:Gm12258 UTSW 11 58,749,294 (GRCm39) missense possibly damaging 0.92
R5896:Gm12258 UTSW 11 58,750,457 (GRCm39) missense probably damaging 1.00
R5956:Gm12258 UTSW 11 58,750,285 (GRCm39) missense probably benign 0.02
R6277:Gm12258 UTSW 11 58,745,113 (GRCm39) missense probably damaging 1.00
R7166:Gm12258 UTSW 11 58,749,299 (GRCm39) missense
R7728:Gm12258 UTSW 11 58,750,518 (GRCm39) missense unknown
R8161:Gm12258 UTSW 11 58,750,138 (GRCm39) missense unknown
R8268:Gm12258 UTSW 11 58,745,084 (GRCm39) critical splice acceptor site probably null
R8491:Gm12258 UTSW 11 58,745,122 (GRCm39) missense
R8878:Gm12258 UTSW 11 58,750,112 (GRCm39) missense unknown
R9381:Gm12258 UTSW 11 58,750,007 (GRCm39) missense unknown
R9409:Gm12258 UTSW 11 58,745,119 (GRCm39) missense
R9546:Gm12258 UTSW 11 58,749,922 (GRCm39) missense unknown
R9723:Gm12258 UTSW 11 58,750,448 (GRCm39) missense unknown
Z1186:Gm12258 UTSW 11 58,750,690 (GRCm39) missense unknown
Z1186:Gm12258 UTSW 11 58,750,014 (GRCm39) unclassified probably benign
Z1186:Gm12258 UTSW 11 58,750,013 (GRCm39) unclassified probably benign
Z1186:Gm12258 UTSW 11 58,749,833 (GRCm39) missense unknown
Z1186:Gm12258 UTSW 11 58,749,776 (GRCm39) missense unknown
Z1186:Gm12258 UTSW 11 58,749,764 (GRCm39) missense unknown
Z1186:Gm12258 UTSW 11 58,749,262 (GRCm39) missense
Z1186:Gm12258 UTSW 11 58,749,126 (GRCm39) missense
Z1187:Gm12258 UTSW 11 58,749,126 (GRCm39) missense
Z1187:Gm12258 UTSW 11 58,749,262 (GRCm39) missense
Z1187:Gm12258 UTSW 11 58,749,764 (GRCm39) missense unknown
Z1187:Gm12258 UTSW 11 58,749,776 (GRCm39) missense unknown
Z1187:Gm12258 UTSW 11 58,749,833 (GRCm39) missense unknown
Z1187:Gm12258 UTSW 11 58,750,013 (GRCm39) unclassified probably benign
Z1187:Gm12258 UTSW 11 58,750,014 (GRCm39) unclassified probably benign
Z1187:Gm12258 UTSW 11 58,750,690 (GRCm39) missense unknown
Z1188:Gm12258 UTSW 11 58,750,014 (GRCm39) unclassified probably benign
Z1188:Gm12258 UTSW 11 58,750,013 (GRCm39) unclassified probably benign
Z1188:Gm12258 UTSW 11 58,749,833 (GRCm39) missense unknown
Z1188:Gm12258 UTSW 11 58,749,776 (GRCm39) missense unknown
Z1188:Gm12258 UTSW 11 58,749,764 (GRCm39) missense unknown
Z1188:Gm12258 UTSW 11 58,749,262 (GRCm39) missense
Z1188:Gm12258 UTSW 11 58,749,126 (GRCm39) missense
Z1188:Gm12258 UTSW 11 58,750,690 (GRCm39) missense unknown
Z1189:Gm12258 UTSW 11 58,750,690 (GRCm39) missense unknown
Z1189:Gm12258 UTSW 11 58,750,014 (GRCm39) unclassified probably benign
Z1189:Gm12258 UTSW 11 58,750,013 (GRCm39) unclassified probably benign
Z1189:Gm12258 UTSW 11 58,749,833 (GRCm39) missense unknown
Z1189:Gm12258 UTSW 11 58,749,776 (GRCm39) missense unknown
Z1189:Gm12258 UTSW 11 58,749,764 (GRCm39) missense unknown
Z1189:Gm12258 UTSW 11 58,749,262 (GRCm39) missense
Z1189:Gm12258 UTSW 11 58,749,126 (GRCm39) missense
Z1190:Gm12258 UTSW 11 58,749,126 (GRCm39) missense
Z1190:Gm12258 UTSW 11 58,749,262 (GRCm39) missense
Z1190:Gm12258 UTSW 11 58,749,764 (GRCm39) missense unknown
Z1190:Gm12258 UTSW 11 58,749,776 (GRCm39) missense unknown
Z1190:Gm12258 UTSW 11 58,749,833 (GRCm39) missense unknown
Z1190:Gm12258 UTSW 11 58,750,013 (GRCm39) unclassified probably benign
Z1190:Gm12258 UTSW 11 58,750,014 (GRCm39) unclassified probably benign
Z1190:Gm12258 UTSW 11 58,750,690 (GRCm39) missense unknown
Z1191:Gm12258 UTSW 11 58,750,690 (GRCm39) missense unknown
Z1191:Gm12258 UTSW 11 58,750,014 (GRCm39) unclassified probably benign
Z1191:Gm12258 UTSW 11 58,750,013 (GRCm39) unclassified probably benign
Z1191:Gm12258 UTSW 11 58,749,833 (GRCm39) missense unknown
Z1191:Gm12258 UTSW 11 58,749,776 (GRCm39) missense unknown
Z1191:Gm12258 UTSW 11 58,749,764 (GRCm39) missense unknown
Z1191:Gm12258 UTSW 11 58,749,262 (GRCm39) missense
Z1191:Gm12258 UTSW 11 58,749,126 (GRCm39) missense
Z1192:Gm12258 UTSW 11 58,750,690 (GRCm39) missense unknown
Z1192:Gm12258 UTSW 11 58,750,014 (GRCm39) unclassified probably benign
Z1192:Gm12258 UTSW 11 58,750,013 (GRCm39) unclassified probably benign
Z1192:Gm12258 UTSW 11 58,749,833 (GRCm39) missense unknown
Z1192:Gm12258 UTSW 11 58,749,776 (GRCm39) missense unknown
Z1192:Gm12258 UTSW 11 58,749,764 (GRCm39) missense unknown
Z1192:Gm12258 UTSW 11 58,749,262 (GRCm39) missense
Z1192:Gm12258 UTSW 11 58,749,126 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CCTTTTACAAGCGAGCCCAC -3'
(R):5'- TGAACTAGCTTCAAGGCTCATC -3'

Sequencing Primer
(F):5'- CCATATGACTGCCAAGAGTGCG -3'
(R):5'- TGCCTAGTGAGGTGGAATTTCAAAC -3'
Posted On 2015-11-11