Incidental Mutation 'IGL01154:Zfp408'
ID 50662
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp408
Ensembl Gene ENSMUSG00000075040
Gene Name zinc finger protein 408
Synonyms LOC381410
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01154
Quality Score
Status
Chromosome 2
Chromosomal Location 91474014-91480136 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 91478351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090614] [ENSMUST00000099714] [ENSMUST00000111329] [ENSMUST00000111331] [ENSMUST00000111333] [ENSMUST00000145582]
AlphaFold H7BX78
Predicted Effect probably benign
Transcript: ENSMUST00000090614
SMART Domains Protein: ENSMUSP00000088105
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099714
SMART Domains Protein: ENSMUSP00000097301
Gene: ENSMUSG00000075040

DomainStartEndE-ValueType
ZnF_C2H2 344 366 7.05e-1 SMART
ZnF_C2H2 372 394 1.67e-2 SMART
ZnF_C2H2 400 422 2.24e-3 SMART
ZnF_C2H2 428 450 8.6e-5 SMART
ZnF_C2H2 459 481 5.9e-3 SMART
ZnF_C2H2 487 509 4.87e-4 SMART
ZnF_C2H2 515 537 2.95e-3 SMART
ZnF_C2H2 542 564 2.2e-2 SMART
ZnF_C2H2 570 592 1.69e-3 SMART
ZnF_C2H2 598 620 3.89e-3 SMART
low complexity region 625 638 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111329
SMART Domains Protein: ENSMUSP00000106961
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 42 52 N/A INTRINSIC
SEC14 64 215 5.08e-25 SMART
low complexity region 224 238 N/A INTRINSIC
RhoGAP 257 428 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111331
SMART Domains Protein: ENSMUSP00000106963
Gene: ENSMUSG00000027247

DomainStartEndE-ValueType
low complexity region 44 58 N/A INTRINSIC
low complexity region 82 92 N/A INTRINSIC
SEC14 104 255 5.08e-25 SMART
low complexity region 264 278 N/A INTRINSIC
RhoGAP 297 468 1.06e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111333
SMART Domains Protein: ENSMUSP00000106965
Gene: ENSMUSG00000075040

DomainStartEndE-ValueType
ZnF_C2H2 244 266 7.05e-1 SMART
ZnF_C2H2 272 294 1.67e-2 SMART
ZnF_C2H2 300 322 2.24e-3 SMART
ZnF_C2H2 328 350 8.6e-5 SMART
ZnF_C2H2 359 381 5.9e-3 SMART
ZnF_C2H2 387 409 4.87e-4 SMART
ZnF_C2H2 415 437 2.95e-3 SMART
ZnF_C2H2 442 464 2.2e-2 SMART
ZnF_C2H2 470 492 1.69e-3 SMART
ZnF_C2H2 498 520 3.89e-3 SMART
low complexity region 525 538 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127702
Predicted Effect probably benign
Transcript: ENSMUST00000145582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139314
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154468
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2210408I21Rik T G 13: 77,429,213 (GRCm39) F767V probably benign Het
A2m C A 6: 121,650,501 (GRCm39) S1203* probably null Het
Abcc3 T C 11: 94,250,058 (GRCm39) probably benign Het
Adamts13 T C 2: 26,896,206 (GRCm39) Y1200H probably benign Het
Aldh1l2 T C 10: 83,356,237 (GRCm39) D51G probably damaging Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arap3 A T 18: 38,129,787 (GRCm39) S125T probably benign Het
Atp2b1 T A 10: 98,832,750 (GRCm39) V417E probably damaging Het
Bpifa1 T A 2: 153,985,920 (GRCm39) D78E probably benign Het
Catsperb C A 12: 101,591,940 (GRCm39) A1090E possibly damaging Het
Ceacam9 C A 7: 16,457,886 (GRCm39) T138K probably damaging Het
Cenpf T A 1: 189,412,530 (GRCm39) E244D probably benign Het
Cep135 A T 5: 76,754,643 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Col15a1 A C 4: 47,208,450 (GRCm39) T6P possibly damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnah5 A T 15: 28,458,802 (GRCm39) T4480S possibly damaging Het
Fastkd1 T C 2: 69,520,404 (GRCm39) probably null Het
Flt1 A G 5: 147,512,966 (GRCm39) Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 (GRCm39) M469V probably benign Het
Fxr2 T C 11: 69,532,259 (GRCm39) probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Grm4 A T 17: 27,653,711 (GRCm39) C699* probably null Het
Hcn4 A G 9: 58,766,362 (GRCm39) T677A unknown Het
Igkv9-123 G T 6: 67,931,518 (GRCm39) probably benign Het
Irf4 T A 13: 30,941,404 (GRCm39) H253Q possibly damaging Het
Jakmip2 T C 18: 43,723,744 (GRCm39) probably benign Het
Kmt2c A G 5: 25,489,397 (GRCm39) V1134A probably damaging Het
Limch1 G T 5: 66,903,301 (GRCm39) E17* probably null Het
Nap1l1 T A 10: 111,322,536 (GRCm39) N72K probably damaging Het
Or4x11 T C 2: 89,867,812 (GRCm39) L183P probably damaging Het
Or51t4 T C 7: 102,598,046 (GRCm39) S115P probably damaging Het
Otud6b A T 4: 14,811,732 (GRCm39) Y304N probably damaging Het
Pdcd10 A C 3: 75,448,540 (GRCm39) M8R probably damaging Het
Ppip5k1 T C 2: 121,173,660 (GRCm39) T404A probably damaging Het
Ppp2r2d C T 7: 138,483,940 (GRCm39) A197V probably benign Het
Psg25 C T 7: 18,258,624 (GRCm39) D351N probably benign Het
Sbno1 A T 5: 124,548,312 (GRCm39) I87N probably damaging Het
Stfa2l1 C T 16: 35,980,307 (GRCm39) probably benign Het
Sugp2 T A 8: 70,695,349 (GRCm39) D107E probably damaging Het
Syne1 G T 10: 5,310,848 (GRCm39) F576L probably damaging Het
Syne3 A G 12: 104,924,328 (GRCm39) F357S probably benign Het
Tenm2 A G 11: 35,932,371 (GRCm39) L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 (GRCm39) K117* probably null Het
Tram1 C T 1: 13,649,673 (GRCm39) probably null Het
Trank1 T A 9: 111,215,468 (GRCm39) D1799E probably benign Het
Ttc14 A T 3: 33,857,248 (GRCm39) Y198F probably benign Het
Ube3b A G 5: 114,544,313 (GRCm39) N570S probably null Het
Ube4b A G 4: 149,449,927 (GRCm39) F412S probably benign Het
Vac14 T C 8: 111,380,239 (GRCm39) probably benign Het
Vmn2r65 T C 7: 84,592,729 (GRCm39) T493A probably benign Het
Zfp580 C T 7: 5,056,267 (GRCm39) T209I possibly damaging Het
Other mutations in Zfp408
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Zfp408 APN 2 91,476,156 (GRCm39) missense probably damaging 1.00
IGL03012:Zfp408 APN 2 91,478,153 (GRCm39) missense probably benign
Innuendo UTSW 2 91,476,690 (GRCm39) missense probably benign 0.06
Slander UTSW 2 91,478,194 (GRCm39) splice site probably benign
R0467:Zfp408 UTSW 2 91,475,882 (GRCm39) missense possibly damaging 0.86
R0981:Zfp408 UTSW 2 91,475,528 (GRCm39) missense probably benign 0.38
R1579:Zfp408 UTSW 2 91,476,473 (GRCm39) missense probably benign 0.05
R1673:Zfp408 UTSW 2 91,476,353 (GRCm39) missense probably damaging 0.97
R1935:Zfp408 UTSW 2 91,480,093 (GRCm39) start codon destroyed probably null 0.95
R2071:Zfp408 UTSW 2 91,476,363 (GRCm39) missense probably damaging 0.96
R2127:Zfp408 UTSW 2 91,475,519 (GRCm39) missense probably damaging 0.98
R2141:Zfp408 UTSW 2 91,478,194 (GRCm39) splice site probably benign
R3688:Zfp408 UTSW 2 91,476,777 (GRCm39) missense probably benign 0.00
R4681:Zfp408 UTSW 2 91,476,131 (GRCm39) missense probably damaging 1.00
R4782:Zfp408 UTSW 2 91,475,369 (GRCm39) missense possibly damaging 0.88
R4939:Zfp408 UTSW 2 91,475,450 (GRCm39) missense probably damaging 1.00
R5306:Zfp408 UTSW 2 91,476,690 (GRCm39) missense probably benign 0.06
R5344:Zfp408 UTSW 2 91,475,588 (GRCm39) missense probably benign 0.15
R6054:Zfp408 UTSW 2 91,479,636 (GRCm39) missense probably benign 0.00
R7985:Zfp408 UTSW 2 91,476,776 (GRCm39) missense probably benign
R8193:Zfp408 UTSW 2 91,475,361 (GRCm39) missense probably benign 0.00
R9075:Zfp408 UTSW 2 91,476,065 (GRCm39) missense possibly damaging 0.77
R9135:Zfp408 UTSW 2 91,475,528 (GRCm39) missense probably damaging 1.00
R9514:Zfp408 UTSW 2 91,478,368 (GRCm39) missense probably damaging 1.00
Z1176:Zfp408 UTSW 2 91,478,150 (GRCm39) missense probably damaging 0.97
Posted On 2013-06-21