Incidental Mutation 'IGL02601:Gm3604'
ID300088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm3604
Ensembl Gene ENSMUSG00000094942
Gene Namepredicted gene 3604
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02601
Quality Score
Status
Chromosome13
Chromosomal Location62368328-62383177 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 62370176 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 123 (H123Y)
Ref Sequence ENSEMBL: ENSMUSP00000139845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107989] [ENSMUST00000187656] [ENSMUST00000202194]
Predicted Effect possibly damaging
Transcript: ENSMUST00000107989
AA Change: H122Y

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: H122Y

DomainStartEndE-ValueType
KRAB 3 65 4.49e-17 SMART
ZnF_C2H2 132 154 2.71e-2 SMART
ZnF_C2H2 160 182 1.3e-4 SMART
ZnF_C2H2 188 210 5.21e-4 SMART
ZnF_C2H2 216 238 1.82e-3 SMART
ZnF_C2H2 244 266 7.78e-3 SMART
ZnF_C2H2 272 294 3.69e-4 SMART
ZnF_C2H2 300 322 3.95e-4 SMART
ZnF_C2H2 328 350 9.08e-4 SMART
ZnF_C2H2 356 378 1.45e-2 SMART
ZnF_C2H2 384 406 1.92e-2 SMART
ZnF_C2H2 412 434 1.3e-4 SMART
ZnF_C2H2 440 462 4.87e-4 SMART
ZnF_C2H2 468 490 1.4e-4 SMART
ZnF_C2H2 496 518 3.95e-4 SMART
ZnF_C2H2 524 546 2.29e1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187656
AA Change: H123Y

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: H123Y

DomainStartEndE-ValueType
KRAB 4 66 1.9e-19 SMART
ZnF_C2H2 133 155 1.2e-4 SMART
ZnF_C2H2 161 183 5.5e-7 SMART
ZnF_C2H2 189 211 2.3e-6 SMART
ZnF_C2H2 217 239 7.5e-6 SMART
ZnF_C2H2 245 267 3.4e-5 SMART
ZnF_C2H2 273 295 1.5e-6 SMART
ZnF_C2H2 301 323 1.7e-6 SMART
ZnF_C2H2 329 351 3.7e-6 SMART
ZnF_C2H2 357 379 6.3e-5 SMART
ZnF_C2H2 385 407 7.8e-5 SMART
ZnF_C2H2 413 435 5.5e-7 SMART
ZnF_C2H2 441 463 2e-6 SMART
ZnF_C2H2 469 491 5.8e-7 SMART
ZnF_C2H2 497 519 1.6e-6 SMART
ZnF_C2H2 525 547 9.6e-2 SMART
Predicted Effect silent
Transcript: ENSMUST00000202194
SMART Domains Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942

DomainStartEndE-ValueType
KRAB 4 65 1.2e-19 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap1 C T 5: 139,307,786 V57M probably damaging Het
Agap3 A G 5: 24,483,371 K23E possibly damaging Het
Anln A T 9: 22,338,035 I132K probably damaging Het
Anxa4 T C 6: 86,760,701 T13A probably benign Het
Bdp1 A T 13: 100,098,514 Y191N possibly damaging Het
Carm1 G A 9: 21,586,908 V403M probably damaging Het
Cbx7 A G 15: 79,923,470 probably null Het
Chd8 A C 14: 52,214,300 N16K possibly damaging Het
Crtc3 A T 7: 80,592,567 D499E probably damaging Het
Cul3 A G 1: 80,271,715 probably benign Het
D430041D05Rik T C 2: 104,230,286 D1421G probably damaging Het
Fgb T A 3: 83,045,060 E167D probably benign Het
Gimap6 T A 6: 48,702,475 Q209L probably damaging Het
Gm5884 A T 6: 128,645,786 noncoding transcript Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Obox3 T C 7: 15,626,923 E97G probably damaging Het
Obsl1 T C 1: 75,489,620 H1488R probably benign Het
Olfr1508 A T 14: 52,463,345 Y221* probably null Het
Olfr790 A G 10: 129,501,854 *323W probably null Het
Pak7 T A 2: 136,116,935 K78* probably null Het
Paqr9 A G 9: 95,560,824 N289S probably damaging Het
Pde3b G A 7: 114,523,342 R715H probably damaging Het
Pglyrp2 T C 17: 32,415,861 H509R probably benign Het
Pik3ap1 A C 19: 41,302,442 N550K probably benign Het
Pon3 A G 6: 5,221,671 Y320H probably damaging Het
Ptprt T A 2: 161,766,307 T690S probably benign Het
Ptprz1 T A 6: 23,000,687 D925E probably benign Het
Rag1 T C 2: 101,642,673 D708G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rbmy1b A G Y: 3,774,885 I27M probably benign Het
Rfx2 G A 17: 56,785,354 H315Y possibly damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sis T C 3: 72,913,210 N1407S probably benign Het
Slco1c1 T A 6: 141,544,829 L261Q probably damaging Het
Sox30 T G 11: 45,984,762 L447R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssu72 A G 4: 155,705,425 N15S possibly damaging Het
Stat4 C T 1: 52,098,415 S455F probably damaging Het
Stk4 T A 2: 164,086,542 L97Q probably damaging Het
Sulf1 A T 1: 12,786,645 N40I probably damaging Het
Sympk G A 7: 19,048,869 V877I probably benign Het
Taar7b A T 10: 24,000,306 H123L probably damaging Het
Teddm1b A G 1: 153,874,616 Y57C probably damaging Het
Tep1 A T 14: 50,833,478 C2121* probably null Het
Tnfsf11 T A 14: 78,299,945 R93* probably null Het
Tspan12 A C 6: 21,835,379 probably benign Het
Tyrp1 A G 4: 80,840,775 E295G probably null Het
Vps4a T C 8: 107,043,061 I334T probably damaging Het
Zfhx3 T C 8: 108,856,830 S1110P probably damaging Het
Zfp507 A G 7: 35,791,711 S716P probably damaging Het
Other mutations in Gm3604
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01869:Gm3604 APN 13 62370140 missense probably damaging 1.00
IGL03386:Gm3604 APN 13 62370167 missense possibly damaging 0.95
R1539:Gm3604 UTSW 13 62371600 missense possibly damaging 0.70
R1771:Gm3604 UTSW 13 62370074 nonsense probably null
R1776:Gm3604 UTSW 13 62370074 nonsense probably null
R1919:Gm3604 UTSW 13 62369942 missense probably benign 0.02
R1954:Gm3604 UTSW 13 62369211 missense probably damaging 0.97
R2093:Gm3604 UTSW 13 62369606 missense possibly damaging 0.50
R2291:Gm3604 UTSW 13 62371843 missense probably damaging 0.99
R2909:Gm3604 UTSW 13 62369018 missense probably benign 0.43
R3195:Gm3604 UTSW 13 62370054 nonsense probably null
R3196:Gm3604 UTSW 13 62370054 nonsense probably null
R3924:Gm3604 UTSW 13 62370230 missense probably damaging 0.99
R4328:Gm3604 UTSW 13 62369265 missense possibly damaging 0.88
R4543:Gm3604 UTSW 13 62370156 missense probably benign
R4830:Gm3604 UTSW 13 62369043 missense probably damaging 0.98
R5129:Gm3604 UTSW 13 62369774 missense probably benign 0.00
R5496:Gm3604 UTSW 13 62371579 missense possibly damaging 0.85
R6184:Gm3604 UTSW 13 62371845 missense probably damaging 1.00
R6426:Gm3604 UTSW 13 62369622 missense probably damaging 1.00
R6925:Gm3604 UTSW 13 62369390 missense probably benign 0.16
R7080:Gm3604 UTSW 13 62370295 missense probably damaging 1.00
R7182:Gm3604 UTSW 13 62371875 missense probably damaging 0.99
R7572:Gm3604 UTSW 13 62370246 missense probably damaging 1.00
R7750:Gm3604 UTSW 13 62369996 missense possibly damaging 0.92
R7960:Gm3604 UTSW 13 62369773 missense probably damaging 0.97
R8023:Gm3604 UTSW 13 62369869 missense probably damaging 1.00
R8062:Gm3604 UTSW 13 62370341 missense probably damaging 0.98
R8093:Gm3604 UTSW 13 62369549 missense probably damaging 0.99
R8532:Gm3604 UTSW 13 62368955 missense possibly damaging 0.57
Posted On2015-04-16