Incidental Mutation 'IGL03185:Gm15448'
ID412414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm15448
Ensembl Gene ENSMUSG00000074419
Gene Namepredicted gene 15448
SynonymsENSMUSG00000074419
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL03185
Quality Score
Status
Chromosome7
Chromosomal Location3816781-3825687 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 3823230 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 255 (Y255H)
Ref Sequence ENSEMBL: ENSMUSP00000092515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]
Predicted Effect probably damaging
Transcript: ENSMUST00000094911
AA Change: Y255H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: Y255H

DomainStartEndE-ValueType
IG_like 40 105 3.26e0 SMART
IG 129 315 1.37e-1 SMART
IG_like 237 302 2.2e-1 SMART
IG 328 415 6.31e-1 SMART
IG 430 519 8.01e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108619
AA Change: Y255H

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: Y255H

DomainStartEndE-ValueType
IG_like 40 105 3.26e0 SMART
IG 129 315 1.37e-1 SMART
IG_like 237 302 2.2e-1 SMART
IG 328 415 6.31e-1 SMART
IG_like 429 517 6.02e0 SMART
IG 529 618 8.01e-3 SMART
low complexity region 637 646 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108620
AA Change: Y255H

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: Y255H

DomainStartEndE-ValueType
IG_like 40 105 3.26e0 SMART
IG 129 315 1.37e-1 SMART
IG_like 237 302 2.2e-1 SMART
IG 328 415 6.31e-1 SMART
IG 430 519 8.01e-3 SMART
low complexity region 538 547 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000153846
AA Change: Y255H

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: Y255H

DomainStartEndE-ValueType
IG 7 96 8.01e-3 SMART
low complexity region 132 141 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189095
AA Change: Y255H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: Y255H

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG_like 40 105 1.3e-2 SMART
IG 129 315 5.7e-4 SMART
IG_like 237 302 9e-4 SMART
IG 328 415 2.6e-3 SMART
IG_like 429 517 2.4e-2 SMART
IG 529 618 3.3e-5 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,347,905 D77G probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Babam2 T C 5: 31,702,032 I27T possibly damaging Het
BC027072 A T 17: 71,749,337 I1115K probably damaging Het
Ccdc150 A G 1: 54,300,323 E442G probably damaging Het
Ccdc92 A G 5: 124,835,950 Y172H probably damaging Het
Chl1 T A 6: 103,665,863 D187E probably damaging Het
Col6a4 A T 9: 106,019,454 F1721I probably damaging Het
Corin C T 5: 72,332,781 G542D probably damaging Het
Dennd1c C T 17: 57,066,803 D587N probably benign Het
Dnah10 A G 5: 124,817,643 Y3424C probably damaging Het
Echdc1 T A 10: 29,331,840 F127I possibly damaging Het
F13b T A 1: 139,516,386 V486E probably benign Het
Fkbp15 C T 4: 62,332,186 probably null Het
Glt8d2 T A 10: 82,662,276 I100F probably damaging Het
Gmip C T 8: 69,809,783 P10L probably benign Het
Grm7 T C 6: 110,646,222 S119P possibly damaging Het
Kdelc1 G A 1: 44,117,199 S76L probably benign Het
Klf4 T C 4: 55,530,911 T58A possibly damaging Het
Mink1 T C 11: 70,603,860 I289T probably damaging Het
Mptx2 A T 1: 173,274,789 V111D possibly damaging Het
Muc5b A T 7: 141,862,822 E3168D possibly damaging Het
Mylk3 C A 8: 85,327,204 V695F probably damaging Het
Olfr736 C A 14: 50,393,398 T214K probably damaging Het
Olfr836 T A 9: 19,121,738 V258E probably damaging Het
Pprc1 C A 19: 46,069,747 probably benign Het
Prkaa2 C T 4: 105,039,721 probably null Het
Prss50 A G 9: 110,858,211 Y74C probably benign Het
Rnf145 T C 11: 44,531,330 L80P probably damaging Het
Serpinb3b T C 1: 107,156,932 I120V probably benign Het
Sgca T C 11: 94,970,784 M212V probably benign Het
Slc1a6 T A 10: 78,801,907 D422E probably damaging Het
Slc30a9 A G 5: 67,333,063 R226G probably benign Het
Slc5a11 A G 7: 123,265,189 D336G possibly damaging Het
Slfn8 T C 11: 83,017,507 H70R probably benign Het
Stoml2 T C 4: 43,029,065 N269S probably benign Het
Synrg A G 11: 83,981,479 E142G probably damaging Het
Thbs2 G A 17: 14,681,410 Q436* probably null Het
Tyk2 T C 9: 21,109,384 N917S probably damaging Het
Zfhx4 C A 3: 5,403,914 T3069K probably benign Het
Zfp446 G T 7: 12,978,998 V88F probably null Het
Zp3 A G 5: 135,982,721 N131S possibly damaging Het
Other mutations in Gm15448
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Gm15448 APN 7 3823089 missense probably damaging 1.00
IGL01675:Gm15448 APN 7 3822608 splice site probably benign
IGL02040:Gm15448 APN 7 3821517 splice site probably benign
IGL02547:Gm15448 APN 7 3821661 missense probably damaging 0.98
IGL02749:Gm15448 APN 7 3822625 missense probably damaging 1.00
IGL02822:Gm15448 APN 7 3816918 missense possibly damaging 0.50
IGL02883:Gm15448 APN 7 3822180 missense possibly damaging 0.95
IGL03140:Gm15448 APN 7 3823248 missense probably benign 0.00
IGL03212:Gm15448 APN 7 3823133 missense probably benign 0.00
R0347:Gm15448 UTSW 7 3822874 missense probably damaging 1.00
R0652:Gm15448 UTSW 7 3822763 missense probably benign 0.02
R0668:Gm15448 UTSW 7 3822700 missense probably damaging 0.99
R0724:Gm15448 UTSW 7 3816872 missense possibly damaging 0.83
R0735:Gm15448 UTSW 7 3821782 missense possibly damaging 0.79
R1074:Gm15448 UTSW 7 3823070 missense probably damaging 1.00
R1339:Gm15448 UTSW 7 3822156 missense probably damaging 1.00
R1541:Gm15448 UTSW 7 3816989 missense probably damaging 1.00
R1570:Gm15448 UTSW 7 3823061 missense probably benign 0.45
R1880:Gm15448 UTSW 7 3824951 critical splice donor site probably null
R1892:Gm15448 UTSW 7 3824574 missense probably benign 0.15
R1909:Gm15448 UTSW 7 3822919 missense probably benign 0.31
R2881:Gm15448 UTSW 7 3825641 start codon destroyed probably null 0.98
R2967:Gm15448 UTSW 7 3822687 missense probably damaging 1.00
R2983:Gm15448 UTSW 7 3821575 missense probably damaging 1.00
R4213:Gm15448 UTSW 7 3821554 missense probably damaging 1.00
R4319:Gm15448 UTSW 7 3822755 missense possibly damaging 0.46
R4320:Gm15448 UTSW 7 3822755 missense possibly damaging 0.46
R4321:Gm15448 UTSW 7 3822755 missense possibly damaging 0.46
R4322:Gm15448 UTSW 7 3822755 missense possibly damaging 0.46
R4323:Gm15448 UTSW 7 3822755 missense possibly damaging 0.46
R4536:Gm15448 UTSW 7 3822252 missense probably benign 0.00
R4597:Gm15448 UTSW 7 3822155 missense possibly damaging 0.81
R4713:Gm15448 UTSW 7 3822681 nonsense probably null
R4725:Gm15448 UTSW 7 3821548 missense probably benign
R4934:Gm15448 UTSW 7 3822677 missense probably damaging 1.00
R4971:Gm15448 UTSW 7 3822806 missense probably benign 0.00
R5138:Gm15448 UTSW 7 3824557 nonsense probably null
R5805:Gm15448 UTSW 7 3822623 missense probably benign 0.15
R5824:Gm15448 UTSW 7 3824754 missense probably damaging 1.00
R5841:Gm15448 UTSW 7 3822899 nonsense probably null
R6027:Gm15448 UTSW 7 3824639 missense possibly damaging 0.94
R6214:Gm15448 UTSW 7 3821718 missense probably damaging 0.99
R6329:Gm15448 UTSW 7 3822851 missense probably damaging 1.00
R6429:Gm15448 UTSW 7 3822346 missense possibly damaging 0.63
R6650:Gm15448 UTSW 7 3816899 missense possibly damaging 0.83
R6681:Gm15448 UTSW 7 3822252 missense probably benign 0.00
R6961:Gm15448 UTSW 7 3825125 missense probably damaging 1.00
R6989:Gm15448 UTSW 7 3822164 missense possibly damaging 0.95
R7025:Gm15448 UTSW 7 3821262 nonsense probably null
R7071:Gm15448 UTSW 7 3821668 missense unknown
R7194:Gm15448 UTSW 7 3824793 missense
R7215:Gm15448 UTSW 7 3822311 missense unknown
R7580:Gm15448 UTSW 7 3824612 missense unknown
R7776:Gm15448 UTSW 7 3823247 missense unknown
R7863:Gm15448 UTSW 7 3824802 critical splice acceptor site probably null
R7909:Gm15448 UTSW 7 3821709 missense unknown
R8131:Gm15448 UTSW 7 3822162 nonsense probably null
R8178:Gm15448 UTSW 7 3821261 missense unknown
R8188:Gm15448 UTSW 7 3823127 missense unknown
R8220:Gm15448 UTSW 7 3822904 missense unknown
R8226:Gm15448 UTSW 7 3825110 missense
Posted On2016-08-02