Incidental Mutation 'IGL01924:Gm4788'
ID180216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4788
Ensembl Gene ENSMUSG00000070594
Gene Namepredicted gene 4788
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL01924
Quality Score
Status
Chromosome1
Chromosomal Location139697623-139781243 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 139739206 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 444 (L444F)
Ref Sequence ENSEMBL: ENSMUSP00000107620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027612] [ENSMUST00000111986] [ENSMUST00000111989]
Predicted Effect probably damaging
Transcript: ENSMUST00000027612
AA Change: L443F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: L443F

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 332 386 9.1e-14 SMART
CCP 393 446 1.58e-13 SMART
CCP 455 505 4.92e-1 SMART
CCP 511 564 8.9e-8 SMART
CCP 569 622 4.18e-13 SMART
CCP 627 681 3.5e-15 SMART
CCP 688 742 5.69e-15 SMART
CCP 746 807 2.77e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111986
AA Change: L444F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: L444F

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 333 387 9.1e-14 SMART
CCP 394 447 1.58e-13 SMART
CCP 456 506 4.92e-1 SMART
CCP 512 565 8.9e-8 SMART
CCP 571 635 2.66e-6 SMART
CCP 640 693 4.18e-13 SMART
CCP 700 754 5.69e-15 SMART
CCP 758 819 2.77e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111989
AA Change: L444F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: L444F

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 333 387 9.1e-14 SMART
CCP 394 447 1.58e-13 SMART
CCP 456 506 4.92e-1 SMART
CCP 512 565 8.9e-8 SMART
CCP 571 635 2.66e-6 SMART
CCP 640 693 4.18e-13 SMART
CCP 698 752 3.5e-15 SMART
CCP 759 813 5.69e-15 SMART
CCP 817 878 2.77e0 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Apba3 G T 10: 81,273,073 A557S probably benign Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Creld1 T C 6: 113,483,960 F20L probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Cyp3a57 A G 5: 145,372,629 D259G probably benign Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Fbxo47 G T 11: 97,856,160 A360D probably damaging Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Spindoc A G 19: 7,382,677 L42P probably damaging Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Tmem213 A T 6: 38,109,438 S10C possibly damaging Het
Trav6-3 A T 14: 53,430,343 I102L probably benign Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Gm4788
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Gm4788 APN 1 139731574 missense probably damaging 0.99
IGL01088:Gm4788 APN 1 139698085 utr 3 prime probably benign
IGL01419:Gm4788 APN 1 139739644 critical splice acceptor site probably null
IGL01552:Gm4788 APN 1 139739302 missense probably damaging 1.00
IGL02032:Gm4788 APN 1 139774546 missense probably damaging 1.00
IGL02254:Gm4788 APN 1 139733405 splice site probably benign
IGL02318:Gm4788 APN 1 139781097 missense probably benign 0.20
IGL02527:Gm4788 APN 1 139753045 missense probably damaging 1.00
IGL02531:Gm4788 APN 1 139774569 missense probably benign 0.10
IGL02587:Gm4788 APN 1 139701930 missense probably damaging 1.00
IGL02644:Gm4788 APN 1 139781167 start codon destroyed probably null 0.63
IGL02852:Gm4788 APN 1 139774016 missense probably damaging 1.00
IGL02963:Gm4788 APN 1 139731596 nonsense probably null
IGL03084:Gm4788 APN 1 139781142 missense possibly damaging 0.94
R0131:Gm4788 UTSW 1 139754271 missense probably damaging 0.98
R0131:Gm4788 UTSW 1 139754271 missense probably damaging 0.98
R0132:Gm4788 UTSW 1 139754271 missense probably damaging 0.98
R0549:Gm4788 UTSW 1 139739488 missense probably damaging 1.00
R0558:Gm4788 UTSW 1 139739492 missense probably damaging 0.99
R0610:Gm4788 UTSW 1 139701846 missense probably benign 0.20
R1341:Gm4788 UTSW 1 139732393 missense probably damaging 0.98
R1460:Gm4788 UTSW 1 139698196 missense probably damaging 0.99
R1544:Gm4788 UTSW 1 139736870 missense probably damaging 1.00
R1873:Gm4788 UTSW 1 139774660 missense probably damaging 0.97
R2032:Gm4788 UTSW 1 139733255 splice site probably benign
R2111:Gm4788 UTSW 1 139774679 splice site probably benign
R2179:Gm4788 UTSW 1 139731541 missense probably damaging 1.00
R3806:Gm4788 UTSW 1 139753035 missense probably damaging 1.00
R4356:Gm4788 UTSW 1 139732310 missense probably damaging 1.00
R4747:Gm4788 UTSW 1 139698184 missense probably damaging 1.00
R4838:Gm4788 UTSW 1 139733443 missense probably damaging 1.00
R4867:Gm4788 UTSW 1 139774475 critical splice donor site probably null
R4910:Gm4788 UTSW 1 139774563 missense probably damaging 1.00
R4911:Gm4788 UTSW 1 139774563 missense probably damaging 1.00
R5050:Gm4788 UTSW 1 139736840 missense probably damaging 0.99
R5120:Gm4788 UTSW 1 139753103 missense probably benign 0.39
R5259:Gm4788 UTSW 1 139740495 missense probably damaging 1.00
R5504:Gm4788 UTSW 1 139701820 missense probably benign 0.18
R5825:Gm4788 UTSW 1 139774598 synonymous probably null
R5949:Gm4788 UTSW 1 139733149 missense probably damaging 0.98
R6140:Gm4788 UTSW 1 139732395 missense probably damaging 1.00
R6200:Gm4788 UTSW 1 139754335 missense probably damaging 0.97
R6254:Gm4788 UTSW 1 139754390 missense probably damaging 0.98
R6255:Gm4788 UTSW 1 139753011 nonsense probably null
R6334:Gm4788 UTSW 1 139773924 unclassified probably null
R6611:Gm4788 UTSW 1 139732390 missense probably damaging 1.00
R6798:Gm4788 UTSW 1 139698121 missense probably benign 0.20
R6800:Gm4788 UTSW 1 139701981 missense possibly damaging 0.85
R6895:Gm4788 UTSW 1 139740472 missense possibly damaging 0.84
R6904:Gm4788 UTSW 1 139731653 missense possibly damaging 0.79
R6994:Gm4788 UTSW 1 139736930 missense possibly damaging 0.67
R7173:Gm4788 UTSW 1 139731677 nonsense probably null
R7184:Gm4788 UTSW 1 139733084 missense possibly damaging 0.65
R7192:Gm4788 UTSW 1 139739295 missense probably damaging 0.96
R7205:Gm4788 UTSW 1 139753050 nonsense probably null
R7308:Gm4788 UTSW 1 139754303 missense possibly damaging 0.71
X0009:Gm4788 UTSW 1 139733549 missense probably benign 0.08
X0024:Gm4788 UTSW 1 139733509 missense probably damaging 1.00
Z1088:Gm4788 UTSW 1 139754261 missense probably damaging 0.99
Posted On2014-05-07