Incidental Mutation 'IGL02612:Gm5134'
ID300500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm5134
Ensembl Gene ENSMUSG00000033255
Gene Namepredicted gene 5134
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02612
Quality Score
Status
Chromosome10
Chromosomal Location75954514-76009591 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75992489 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 301 (L301P)
Ref Sequence ENSEMBL: ENSMUSP00000097172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099577]
Predicted Effect probably damaging
Transcript: ENSMUST00000099577
AA Change: L301P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097172
Gene: ENSMUSG00000033255
AA Change: L301P

DomainStartEndE-ValueType
Pfam:SSF 32 466 2.9e-119 PFAM
transmembrane domain 500 522 N/A INTRINSIC
transmembrane domain 651 670 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134234
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,678,012 M1432L probably benign Het
Alg11 A G 8: 22,061,983 R48G probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
Bmp4 T A 14: 46,384,481 D202V probably damaging Het
Car12 T G 9: 66,762,424 L300R probably damaging Het
Cdc37l1 T A 19: 29,016,102 *336R probably null Het
Cep89 A G 7: 35,424,655 probably null Het
Ces3b T A 8: 105,085,269 D103E possibly damaging Het
Chd5 A G 4: 152,360,576 D338G probably damaging Het
Crot A G 5: 8,969,945 C466R probably damaging Het
Dach2 T C X: 113,750,404 M194T probably benign Het
Dmrtc1b A G X: 102,713,267 D100G probably benign Het
Epm2a G A 10: 11,457,236 R271H probably damaging Het
Fem1c G T 18: 46,505,714 T407K probably benign Het
Fer1l4 T C 2: 156,047,928 Y273C probably damaging Het
Foxc2 C A 8: 121,117,837 A408E probably benign Het
Gbp10 A T 5: 105,218,502 M512K possibly damaging Het
Gm17677 T C 9: 35,742,164 I88T possibly damaging Het
Gm21671 A C 5: 25,951,616 Y122D probably benign Het
Grk3 A T 5: 112,969,234 D100E probably benign Het
Gsdma3 T A 11: 98,635,881 D322E probably damaging Het
Gucy1a2 C A 9: 3,894,556 L680I possibly damaging Het
Ighv7-2 T C 12: 113,912,146 Y79C probably damaging Het
Igkv4-50 T C 6: 69,701,040 T27A probably benign Het
Ints2 T C 11: 86,215,578 D1002G probably damaging Het
Map4k5 T A 12: 69,849,584 I169F possibly damaging Het
Mink1 T C 11: 70,597,226 V39A probably damaging Het
Mms22l T A 4: 24,508,482 H301Q probably benign Het
Myh4 C T 11: 67,256,479 T1650I probably benign Het
Olfr658 A T 7: 104,644,663 D234E probably benign Het
Olfr884 T A 9: 38,047,366 L48Q probably damaging Het
Olfr907 T C 9: 38,499,473 M268T probably benign Het
Pbxip1 C T 3: 89,443,681 T117M probably damaging Het
Pgghg C T 7: 140,946,338 T572M probably damaging Het
Phactr2 G A 10: 13,245,423 T511I probably damaging Het
Pip5k1a T C 3: 95,067,413 I385V probably benign Het
Pwp2 A G 10: 78,182,994 C60R probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rttn G T 18: 88,973,626 D110Y probably damaging Het
Setbp1 G T 18: 78,755,710 H1418Q probably damaging Het
Sf3b3 T C 8: 110,842,976 I37V probably benign Het
Slc27a6 A T 18: 58,556,905 I148F probably benign Het
Slmap A G 14: 26,459,466 probably benign Het
Stil A G 4: 115,023,696 Q479R possibly damaging Het
Svop A G 5: 114,028,260 *549Q probably null Het
Tnks C T 8: 34,849,299 V889I possibly damaging Het
Tnrc6c T A 11: 117,743,000 V1308E possibly damaging Het
Vmn1r208 C A 13: 22,772,823 C168F probably damaging Het
Vmn2r117 A T 17: 23,459,784 M822K possibly damaging Het
Vwa8 A G 14: 79,183,112 N1751S probably benign Het
Vwde A T 6: 13,187,149 F780I probably damaging Het
Washc2 T C 6: 116,220,616 I184T possibly damaging Het
Wdr26 A T 1: 181,177,796 probably benign Het
Zfp608 G A 18: 54,898,201 T889M probably damaging Het
Zfp955a G T 17: 33,244,065 Q31K probably damaging Het
Zpbp2 T C 11: 98,555,517 L145S probably benign Het
Other mutations in Gm5134
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Gm5134 APN 10 76000421 missense possibly damaging 0.70
IGL01371:Gm5134 APN 10 76004747 missense probably damaging 0.99
IGL02140:Gm5134 APN 10 75986111 missense probably benign 0.03
IGL02197:Gm5134 APN 10 75954702 critical splice donor site probably null
IGL02233:Gm5134 APN 10 76008500 critical splice acceptor site probably null
IGL02896:Gm5134 APN 10 75974224 missense possibly damaging 0.82
R0021:Gm5134 UTSW 10 75993884 missense probably damaging 1.00
R0021:Gm5134 UTSW 10 75993884 missense probably damaging 1.00
R0035:Gm5134 UTSW 10 75993864 missense probably benign 0.01
R0035:Gm5134 UTSW 10 75993864 missense probably benign 0.01
R0110:Gm5134 UTSW 10 75974245 missense probably benign 0.03
R0499:Gm5134 UTSW 10 75992525 missense probably benign 0.00
R0510:Gm5134 UTSW 10 75974245 missense probably benign 0.03
R1429:Gm5134 UTSW 10 75978381 missense probably damaging 1.00
R1726:Gm5134 UTSW 10 75992527 missense possibly damaging 0.83
R1918:Gm5134 UTSW 10 75976346 missense possibly damaging 0.70
R1956:Gm5134 UTSW 10 76004846 missense possibly damaging 0.89
R1993:Gm5134 UTSW 10 75966393 missense probably damaging 0.96
R2049:Gm5134 UTSW 10 76004884 missense possibly damaging 0.92
R2188:Gm5134 UTSW 10 75995836 missense probably damaging 1.00
R3551:Gm5134 UTSW 10 76000447 missense probably benign 0.08
R4074:Gm5134 UTSW 10 76008531 missense probably damaging 1.00
R4435:Gm5134 UTSW 10 75995824 missense probably damaging 1.00
R4466:Gm5134 UTSW 10 76008575 missense probably benign 0.00
R5180:Gm5134 UTSW 10 75976366 missense probably damaging 1.00
R5446:Gm5134 UTSW 10 75995836 missense probably damaging 1.00
R5601:Gm5134 UTSW 10 75985952 missense probably damaging 0.98
R5627:Gm5134 UTSW 10 75986108 missense possibly damaging 0.93
R5777:Gm5134 UTSW 10 76004760 missense probably benign 0.00
R5867:Gm5134 UTSW 10 76008616 missense probably benign 0.00
R6145:Gm5134 UTSW 10 75995839 missense probably damaging 0.99
R6232:Gm5134 UTSW 10 75986025 missense possibly damaging 0.95
R6271:Gm5134 UTSW 10 75995809 missense probably benign 0.32
R6329:Gm5134 UTSW 10 75954660 missense possibly damaging 0.68
R6723:Gm5134 UTSW 10 76008619 missense probably benign
R7049:Gm5134 UTSW 10 75992458 missense probably damaging 0.97
R7305:Gm5134 UTSW 10 76000399 missense probably damaging 1.00
R7579:Gm5134 UTSW 10 75964437 missense probably damaging 1.00
X0050:Gm5134 UTSW 10 75992510 missense probably damaging 1.00
Posted On2015-04-16