Incidental Mutation 'R8348:Fiz1'
ID 660430
Institutional Source Beutler Lab
Gene Symbol Fiz1
Ensembl Gene ENSMUSG00000061374
Gene Name Flt3 interacting zinc finger protein 1
Synonyms
MMRRC Submission 067732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R8348 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 5010058-5017696 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5015909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 27 (V27A)
Ref Sequence ENSEMBL: ENSMUSP00000146713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077385] [ENSMUST00000086349] [ENSMUST00000165320] [ENSMUST00000167804] [ENSMUST00000207030] [ENSMUST00000207050] [ENSMUST00000207412] [ENSMUST00000207901] [ENSMUST00000207946] [ENSMUST00000208944] [ENSMUST00000209030] [ENSMUST00000209060]
AlphaFold Q9WTJ4
Predicted Effect probably benign
Transcript: ENSMUST00000077385
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374
AA Change: V27A

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
ZnF_C2H2 29 51 5.99e-4 SMART
ZnF_C2H2 57 79 6.32e-3 SMART
ZnF_C2H2 85 107 1.36e-2 SMART
ZnF_C2H2 113 136 4.72e-2 SMART
low complexity region 140 177 N/A INTRINSIC
ZnF_C2H2 204 226 1.02e1 SMART
ZnF_C2H2 232 254 9.44e-2 SMART
low complexity region 322 332 N/A INTRINSIC
ZnF_C2H2 336 357 2.12e1 SMART
ZnF_C2H2 363 386 2.45e0 SMART
low complexity region 404 414 N/A INTRINSIC
ZnF_C2H2 418 440 8.94e-3 SMART
ZnF_C2H2 446 468 4.05e-1 SMART
ZnF_C2H2 474 496 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000086349
SMART Domains Protein: ENSMUSP00000083533
Gene: ENSMUSG00000051184

DomainStartEndE-ValueType
AT_hook 29 41 1.53e2 SMART
AT_hook 51 63 1.09e0 SMART
ZnF_C2H2 109 131 1.16e-1 SMART
ZnF_C2H2 137 159 1.56e-2 SMART
ZnF_C2H2 165 187 4.4e-2 SMART
ZnF_C2H2 193 216 7.26e-3 SMART
low complexity region 272 287 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165320
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374
AA Change: V27A

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
ZnF_C2H2 29 51 5.99e-4 SMART
ZnF_C2H2 57 79 6.32e-3 SMART
ZnF_C2H2 85 107 1.36e-2 SMART
ZnF_C2H2 113 136 4.72e-2 SMART
low complexity region 140 177 N/A INTRINSIC
ZnF_C2H2 204 226 1.02e1 SMART
ZnF_C2H2 232 254 9.44e-2 SMART
low complexity region 322 332 N/A INTRINSIC
ZnF_C2H2 336 357 2.12e1 SMART
ZnF_C2H2 363 386 2.45e0 SMART
low complexity region 404 414 N/A INTRINSIC
ZnF_C2H2 418 440 8.94e-3 SMART
ZnF_C2H2 446 468 4.05e-1 SMART
ZnF_C2H2 474 496 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167804
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374
AA Change: V27A

DomainStartEndE-ValueType
low complexity region 10 25 N/A INTRINSIC
ZnF_C2H2 29 51 5.99e-4 SMART
ZnF_C2H2 57 79 6.32e-3 SMART
ZnF_C2H2 85 107 1.36e-2 SMART
ZnF_C2H2 113 136 4.72e-2 SMART
low complexity region 140 177 N/A INTRINSIC
ZnF_C2H2 204 226 1.02e1 SMART
ZnF_C2H2 232 254 9.44e-2 SMART
low complexity region 322 332 N/A INTRINSIC
ZnF_C2H2 336 357 2.12e1 SMART
ZnF_C2H2 363 386 2.45e0 SMART
low complexity region 404 414 N/A INTRINSIC
ZnF_C2H2 418 440 8.94e-3 SMART
ZnF_C2H2 446 468 4.05e-1 SMART
ZnF_C2H2 474 496 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207030
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000207050
Predicted Effect probably benign
Transcript: ENSMUST00000207412
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000207901
Predicted Effect probably benign
Transcript: ENSMUST00000207946
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000208944
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000209030
Predicted Effect probably benign
Transcript: ENSMUST00000209060
AA Change: V27A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik A G 7: 37,894,384 (GRCm39) Y139C possibly damaging Het
A430033K04Rik A G 5: 138,634,514 (GRCm39) D43G probably damaging Het
Actn3 C A 19: 4,915,361 (GRCm39) V464L possibly damaging Het
Adamts15 C T 9: 30,813,846 (GRCm39) R773Q probably benign Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Arhgef28 G T 13: 98,190,375 (GRCm39) P195T possibly damaging Het
Axdnd1 A T 1: 156,245,854 (GRCm39) D107E probably benign Het
Cdh23 C T 10: 60,167,507 (GRCm39) V1828M probably benign Het
Cep95 A G 11: 106,704,593 (GRCm39) T440A possibly damaging Het
Ctdp1 G A 18: 80,493,325 (GRCm39) A390V probably benign Het
Desi2 T A 1: 178,083,906 (GRCm39) probably benign Het
Dnah2 A T 11: 69,320,273 (GRCm39) M3932K possibly damaging Het
Dnah8 A T 17: 30,955,121 (GRCm39) Q2050L probably damaging Het
Etnppl T A 3: 130,423,141 (GRCm39) M274K probably benign Het
Farp2 G T 1: 93,504,614 (GRCm39) probably null Het
Fbxo46 G A 7: 18,870,469 (GRCm39) G363R probably damaging Het
Fndc3b T A 3: 27,494,144 (GRCm39) M994L probably benign Het
G3bp1 T G 11: 55,389,457 (GRCm39) D384E possibly damaging Het
Galnt2 C T 8: 125,061,025 (GRCm39) R306* probably null Het
Gle1 T C 2: 29,832,556 (GRCm39) Y304H possibly damaging Het
Gm3415 G A 5: 146,493,407 (GRCm39) R84H probably benign Het
Gm7694 A C 1: 170,129,209 (GRCm39) S107A possibly damaging Het
Gpc6 A G 14: 117,673,232 (GRCm39) D163G probably damaging Het
Gtpbp6 G A 5: 110,251,892 (GRCm39) H514Y possibly damaging Het
Hdgfl2 A G 17: 56,406,370 (GRCm39) E595G possibly damaging Het
Hoxc11 G A 15: 102,863,186 (GRCm39) G76S possibly damaging Het
Hoxc4 T C 15: 102,943,440 (GRCm39) C98R possibly damaging Het
Hydin A T 8: 111,329,878 (GRCm39) I4871F possibly damaging Het
Ifnar1 A G 16: 91,292,187 (GRCm39) D176G probably benign Het
Inafm1 A G 7: 16,007,055 (GRCm39) I54T probably damaging Het
Inpp5b G A 4: 124,678,967 (GRCm39) G458D probably damaging Het
Irs2 A T 8: 11,054,974 (GRCm39) S1153T probably damaging Het
Kcnj15 A G 16: 95,096,609 (GRCm39) Y77C probably damaging Het
Klhl35 C A 7: 99,121,062 (GRCm39) D10E probably damaging Het
Lef1 A T 3: 130,906,461 (GRCm39) M1L probably benign Het
Lima1 T C 15: 99,678,753 (GRCm39) T403A probably benign Het
Magi3 T A 3: 103,958,531 (GRCm39) N518I probably damaging Het
Mcoln3 T C 3: 145,836,974 (GRCm39) C269R probably damaging Het
Mis18a A T 16: 90,523,919 (GRCm39) L81* probably null Het
Mug2 A T 6: 122,049,192 (GRCm39) K903* probably null Het
Nhsl3 G A 4: 129,117,699 (GRCm39) R322C probably damaging Het
Pex6 T C 17: 47,034,039 (GRCm39) S656P probably benign Het
Pgr C A 9: 8,922,602 (GRCm39) Q591K probably benign Het
Phactr3 T C 2: 177,897,935 (GRCm39) S50P probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Sipa1l1 T A 12: 82,443,045 (GRCm39) N778K probably benign Het
Slc22a6 C G 19: 8,599,169 (GRCm39) R267G probably damaging Het
Slc5a7 A G 17: 54,583,655 (GRCm39) V545A possibly damaging Het
Snf8 A G 11: 95,925,877 (GRCm39) K13R probably benign Het
St3gal1 G A 15: 66,985,511 (GRCm39) R48C probably damaging Het
Tacc2 A C 7: 130,225,019 (GRCm39) K568T possibly damaging Het
Tnxb C A 17: 34,929,102 (GRCm39) T2715K possibly damaging Het
Vegfb T C 19: 6,962,856 (GRCm39) I140V probably benign Het
Vmn2r89 A C 14: 51,692,548 (GRCm39) D117A possibly damaging Het
Vps13c C T 9: 67,786,385 (GRCm39) T284I possibly damaging Het
Wnk1 T C 6: 119,906,960 (GRCm39) probably null Het
Wscd2 T A 5: 113,710,371 (GRCm39) H298Q possibly damaging Het
Zfp69 A T 4: 120,787,834 (GRCm39) C494S probably damaging Het
Zfp715 T C 7: 42,949,361 (GRCm39) T200A possibly damaging Het
Other mutations in Fiz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02606:Fiz1 APN 7 5,012,158 (GRCm39) missense possibly damaging 0.96
R0282:Fiz1 UTSW 7 5,012,200 (GRCm39) missense probably benign 0.33
R0548:Fiz1 UTSW 7 5,012,167 (GRCm39) missense possibly damaging 0.86
R1693:Fiz1 UTSW 7 5,011,727 (GRCm39) missense probably benign
R2054:Fiz1 UTSW 7 5,011,235 (GRCm39) missense probably damaging 1.00
R2151:Fiz1 UTSW 7 5,015,880 (GRCm39) missense possibly damaging 0.60
R2204:Fiz1 UTSW 7 5,011,685 (GRCm39) missense probably benign 0.01
R3427:Fiz1 UTSW 7 5,015,708 (GRCm39) missense probably damaging 1.00
R3615:Fiz1 UTSW 7 5,011,171 (GRCm39) missense probably benign 0.36
R3616:Fiz1 UTSW 7 5,011,171 (GRCm39) missense probably benign 0.36
R4690:Fiz1 UTSW 7 5,012,167 (GRCm39) missense probably benign 0.33
R5554:Fiz1 UTSW 7 5,015,849 (GRCm39) missense probably damaging 1.00
R6340:Fiz1 UTSW 7 5,011,400 (GRCm39) missense possibly damaging 0.94
R6343:Fiz1 UTSW 7 5,011,400 (GRCm39) missense possibly damaging 0.94
R6586:Fiz1 UTSW 7 5,011,400 (GRCm39) missense possibly damaging 0.94
R6587:Fiz1 UTSW 7 5,011,400 (GRCm39) missense possibly damaging 0.94
R7999:Fiz1 UTSW 7 5,011,997 (GRCm39) missense probably benign 0.00
R8531:Fiz1 UTSW 7 5,012,163 (GRCm39) nonsense probably null
R8875:Fiz1 UTSW 7 5,012,093 (GRCm39) missense probably benign 0.00
R9154:Fiz1 UTSW 7 5,011,280 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCTCGGAATCCCTTAGGG -3'
(R):5'- CACTTTGAGAGTCTACCTGGG -3'

Sequencing Primer
(F):5'- AGCATCGGTAGGGTCGTTCAC -3'
(R):5'- TTTGAGAGTCTACCTGGGCCAAC -3'
Posted On 2021-01-18