Incidental Mutation 'IGL01309:Gm5965'
ID73580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5965
Ensembl Gene ENSMUSG00000009047
Gene Namepredicted gene 5965
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.122) question?
Stock #IGL01309
Quality Score
Status
Chromosome16
Chromosomal Location88777896-88778528 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 88778331 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 131 (S131A)
Ref Sequence ENSEMBL: ENSMUSP00000009191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009191] [ENSMUST00000054223]
Predicted Effect possibly damaging
Transcript: ENSMUST00000009191
AA Change: S131A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000009191
Gene: ENSMUSG00000009047
AA Change: S131A

DomainStartEndE-ValueType
Pfam:PMG 1 77 1e-28 PFAM
Pfam:PMG 74 196 2.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054223
SMART Domains Protein: ENSMUSP00000062370
Gene: ENSMUSG00000048830

DomainStartEndE-ValueType
Pfam:PMG 1 77 1.6e-28 PFAM
Pfam:PMG 74 200 7.5e-51 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 17,113,546 V275A possibly damaging Het
Adamts2 A G 11: 50,803,701 D1105G probably benign Het
Adgrb3 T A 1: 25,112,271 M195L possibly damaging Het
Adrm1 A G 2: 180,175,963 probably benign Het
Atg13 T A 2: 91,678,831 I457F possibly damaging Het
BC034090 T C 1: 155,226,384 N45D probably damaging Het
C3 C T 17: 57,209,652 probably benign Het
Cacna1a G A 8: 84,523,028 G221D probably damaging Het
Calr A G 8: 84,846,706 probably null Het
Chd3 C T 11: 69,357,731 V825I probably damaging Het
Chdh T G 14: 30,035,804 probably benign Het
Ckap5 T C 2: 91,570,184 V627A probably damaging Het
Commd3 A G 2: 18,672,478 E5G probably benign Het
Ddi1 T C 9: 6,265,773 R199G probably damaging Het
Dennd4c A G 4: 86,805,487 probably benign Het
Dok7 G A 5: 35,079,568 G293D possibly damaging Het
Epm2aip1 T C 9: 111,273,528 V523A probably benign Het
Fam171b C T 2: 83,879,447 Q488* probably null Het
Gabbr1 G A 17: 37,048,607 probably null Het
Gpcpd1 T C 2: 132,550,324 D235G probably damaging Het
Grip1 A T 10: 119,931,302 K111* probably null Het
Itih4 G T 14: 30,891,749 D308Y probably damaging Het
Kcnj6 A G 16: 94,832,455 Y266H probably damaging Het
Lrrc41 T C 4: 116,096,466 L783P probably damaging Het
Map4k5 T C 12: 69,841,963 D298G probably benign Het
Mapkbp1 T C 2: 120,018,942 F712L probably damaging Het
Mcoln2 T C 3: 146,163,527 probably benign Het
Megf11 T A 9: 64,681,416 S532R probably benign Het
Mkx T C 18: 6,937,192 D284G probably benign Het
Mmp16 A G 4: 18,116,185 I596M probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtmr9 A G 14: 63,526,805 L491P probably damaging Het
Olfr1196 T G 2: 88,700,966 Y121S probably damaging Het
Olfr12 T C 1: 92,620,335 M143T probably damaging Het
Olfr917 T A 9: 38,664,993 I284L probably benign Het
Otor T C 2: 143,078,612 V38A possibly damaging Het
Pcdhb12 G T 18: 37,436,154 D118Y probably damaging Het
Prelp T C 1: 133,914,807 H200R probably benign Het
Prmt5 T C 14: 54,509,877 Y481C probably damaging Het
Psg23 T G 7: 18,614,540 D114A probably damaging Het
Ptger4 A T 15: 5,242,758 Y127N probably damaging Het
Rabgap1l C A 1: 160,700,798 V385L probably benign Het
Rergl T A 6: 139,493,258 K191* probably null Het
Sart3 A G 5: 113,759,250 F252S probably damaging Het
Sbno1 A T 5: 124,381,706 S1169T probably benign Het
Serpinb8 C T 1: 107,604,718 T180M probably damaging Het
Sipa1l1 G A 12: 82,387,696 E747K probably benign Het
Sptb T A 12: 76,587,463 D2158V probably benign Het
Sycp2 T G 2: 178,358,111 D1024A probably benign Het
Tbr1 T G 2: 61,806,067 N262K possibly damaging Het
Tnrc6a A T 7: 123,171,494 I836F probably benign Het
Ttn T C 2: 76,938,747 E2823G probably damaging Het
Uqcrc1 T A 9: 108,948,958 L441Q possibly damaging Het
Vmn1r180 T C 7: 23,952,999 F196L probably damaging Het
Vmn2r111 T C 17: 22,569,016 I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 H353L probably damaging Het
Other mutations in Gm5965
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Gm5965 APN 16 88778340 missense probably damaging 0.99
R2520:Gm5965 UTSW 16 88778526 missense probably null
R5009:Gm5965 UTSW 16 88778424 missense probably benign 0.17
R5458:Gm5965 UTSW 16 88778507 missense probably benign 0.09
Posted On2013-10-07