Incidental Mutation 'R3551:Gm3269'
ID 268360
Institutional Source Beutler Lab
Gene Symbol Gm3269
Ensembl Gene ENSMUSG00000091494
Gene Name predicted gene 3269
Synonyms
MMRRC Submission 040668-MU
Accession Numbers
Essential gene? Not available question?
Stock # R3551 (G1)
Quality Score 131
Status Not validated
Chromosome 14
Chromosomal Location 17623226-17631662 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 16033003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 260 (V260D)
Ref Sequence ENSEMBL: ENSMUSP00000132121 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166025] [ENSMUST00000178137]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000166025
AA Change: V260D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132121
Gene: ENSMUSG00000091494
AA Change: V260D

DomainStartEndE-ValueType
Pfam:Takusan 48 128 4.1e-20 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178137
SMART Domains Protein: ENSMUSP00000137595
Gene: ENSMUSG00000091494

DomainStartEndE-ValueType
Pfam:Takusan 46 129 6.3e-30 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,152,450 (GRCm39) Y866N probably damaging Het
Adam24 G C 8: 41,132,632 (GRCm39) W33C probably benign Het
Adgrl2 A T 3: 148,564,599 (GRCm39) V327E probably damaging Het
Aqp7 T A 4: 41,045,329 (GRCm39) N17I probably benign Het
Bicra T A 7: 15,713,658 (GRCm39) Q848L probably benign Het
C4b T C 17: 34,960,846 (GRCm39) E240G possibly damaging Het
Ccni T C 5: 93,335,620 (GRCm39) S173G probably benign Het
Clca3a2 T A 3: 144,508,842 (GRCm39) N50I probably damaging Het
Dcaf7 A G 11: 105,945,622 (GRCm39) T324A probably benign Het
Dnah12 G A 14: 26,492,929 (GRCm39) R1230H probably benign Het
Dsg4 G A 18: 20,584,813 (GRCm39) V176M probably damaging Het
Ect2l A G 10: 18,039,141 (GRCm39) I339T probably damaging Het
Edc4 A T 8: 106,612,126 (GRCm39) I138F probably damaging Het
Ercc6l2 T A 13: 63,992,409 (GRCm39) V401E probably damaging Het
Gm4076 C T 13: 85,275,269 (GRCm39) noncoding transcript Het
Gm4922 A T 10: 18,660,244 (GRCm39) N159K probably benign Het
Gm5134 G T 10: 75,836,281 (GRCm39) A421S probably benign Het
Hrc G C 7: 44,985,757 (GRCm39) E303Q possibly damaging Het
Ipo4 A G 14: 55,870,560 (GRCm39) V288A probably benign Het
Kng2 A G 16: 22,830,745 (GRCm39) probably null Het
Lrfn1 T C 7: 28,159,479 (GRCm39) L466P possibly damaging Het
Magi1 T A 6: 93,676,610 (GRCm39) K916N probably damaging Het
Mms19 T C 19: 41,938,237 (GRCm39) T720A probably benign Het
Muc5b A G 7: 141,415,072 (GRCm39) T2673A possibly damaging Het
Myo15a C T 11: 60,400,489 (GRCm39) A1767V possibly damaging Het
Npas2 A T 1: 39,326,643 (GRCm39) M43L probably benign Het
Nup43 A G 10: 7,550,778 (GRCm39) D216G possibly damaging Het
Or1e19 T C 11: 73,316,678 (GRCm39) I44V probably benign Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdhga6 G T 18: 37,841,270 (GRCm39) R330L probably benign Het
Pear1 A G 3: 87,665,439 (GRCm39) F145L probably benign Het
Pgap1 A G 1: 54,569,302 (GRCm39) S355P possibly damaging Het
Prr14l A T 5: 32,985,963 (GRCm39) probably null Het
Ptpn12 T C 5: 21,194,047 (GRCm39) K742E possibly damaging Het
Ryr1 T A 7: 28,756,422 (GRCm39) Q3464L probably damaging Het
Sema4c G C 1: 36,592,804 (GRCm39) T138S probably benign Het
Slc4a2 C T 5: 24,635,099 (GRCm39) T168M probably benign Het
Slco1a7 T C 6: 141,654,322 (GRCm39) K647E probably benign Het
Spice1 G T 16: 44,178,232 (GRCm39) S85I probably damaging Het
Thrb T A 14: 17,963,214 (GRCm38) I59N probably damaging Het
Trav7-1 A G 14: 52,892,756 (GRCm39) D103G probably damaging Het
Ubap2l G T 3: 89,922,758 (GRCm39) T766N unknown Het
Zfp692 C T 11: 58,200,254 (GRCm39) T170I possibly damaging Het
Zfp704 A G 3: 9,539,585 (GRCm39) V255A probably damaging Het
Zfp759 T C 13: 67,287,031 (GRCm39) V194A probably benign Het
Other mutations in Gm3269
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02871:Gm3269 APN 14 16,028,154 (GRCm39) missense probably damaging 1.00
R7652:Gm3269 UTSW 14 16,026,209 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTCTGAAATAGTCCAGCAGAAAGC -3'
(R):5'- TATGGCCTCCCAAGTCAAAGC -3'

Sequencing Primer
(F):5'- CAGAAAGCAGAACATGGCAC -3'
(R):5'- ACACAGGTTGTAGACTTGGACCC -3'
Posted On 2015-02-19