Incidental Mutation 'R9183:Gfi1'
ID 697174
Institutional Source Beutler Lab
Gene Symbol Gfi1
Ensembl Gene ENSMUSG00000029275
Gene Name growth factor independent 1 transcription repressor
Synonyms Pal1, Gfi-1, Pal-1
MMRRC Submission 068950-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9183 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 107864521-107873671 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 107873819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031205] [ENSMUST00000065478] [ENSMUST00000159164] [ENSMUST00000159263] [ENSMUST00000159263]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031205
SMART Domains Protein: ENSMUSP00000135884
Gene: ENSMUSG00000029275

DomainStartEndE-ValueType
low complexity region 174 181 N/A INTRINSIC
low complexity region 184 202 N/A INTRINSIC
ZnF_C2H2 256 279 8.47e-4 SMART
ZnF_C2H2 285 307 1.82e-3 SMART
ZnF_C2H2 313 335 3.16e-3 SMART
ZnF_C2H2 341 363 3.89e-3 SMART
ZnF_C2HC 342 358 5.37e0 SMART
ZnF_C2H2 369 391 1.47e-3 SMART
ZnF_C2H2 397 420 1.36e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065478
SMART Domains Protein: ENSMUSP00000135039
Gene: ENSMUSG00000029275

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
low complexity region 240 247 N/A INTRINSIC
low complexity region 250 268 N/A INTRINSIC
ZnF_C2H2 322 345 8.47e-4 SMART
ZnF_C2H2 351 373 1.82e-3 SMART
ZnF_C2H2 379 401 3.16e-3 SMART
ZnF_C2H2 407 429 3.89e-3 SMART
ZnF_C2HC 408 424 5.37e0 SMART
ZnF_C2H2 435 457 1.47e-3 SMART
ZnF_C2H2 463 486 1.36e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159164
SMART Domains Protein: ENSMUSP00000137229
Gene: ENSMUSG00000029275

DomainStartEndE-ValueType
low complexity region 174 181 N/A INTRINSIC
low complexity region 184 202 N/A INTRINSIC
ZnF_C2H2 256 279 8.47e-4 SMART
ZnF_C2H2 285 307 1.82e-3 SMART
ZnF_C2H2 313 335 3.16e-3 SMART
ZnF_C2H2 341 363 3.89e-3 SMART
ZnF_C2HC 342 358 5.37e0 SMART
ZnF_C2H2 369 391 1.47e-3 SMART
ZnF_C2H2 397 420 1.36e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000159263
SMART Domains Protein: ENSMUSP00000135880
Gene: ENSMUSG00000029275

DomainStartEndE-ValueType
low complexity region 174 181 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159263
SMART Domains Protein: ENSMUSP00000135880
Gene: ENSMUSG00000029275

DomainStartEndE-ValueType
low complexity region 174 181 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of inner ear hair cells, ataxia, circling, and deafness. Mutants also show a block in granulocyte and neutrophil maturation, and are hypersensitive to endotoxin stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 A G 14: 8,251,559 (GRCm38) C313R probably damaging Het
Adap2 A G 11: 80,045,882 (GRCm39) N54S probably damaging Het
Adcy8 T C 15: 64,694,116 (GRCm39) D387G probably damaging Het
Adgra1 G A 7: 139,455,716 (GRCm39) R448Q probably benign Het
Antxr1 A T 6: 87,264,025 (GRCm39) D148E probably damaging Het
Ap3d1 A T 10: 80,545,627 (GRCm39) V1034E probably null Het
Arpp21 C T 9: 111,895,066 (GRCm39) A731T probably benign Het
Asl T A 5: 130,042,312 (GRCm39) R255W probably damaging Het
Asxl1 T A 2: 153,239,840 (GRCm39) S544T probably damaging Het
Atp8a1 A C 5: 67,924,378 (GRCm39) Y329D Het
Calcr A T 6: 3,711,463 (GRCm39) I186N probably damaging Het
Cdh18 T C 15: 23,227,065 (GRCm39) probably null Het
Celsr3 T C 9: 108,706,595 (GRCm39) L1026P probably damaging Het
Ces2a T A 8: 105,460,774 (GRCm39) V24E possibly damaging Het
Clybl T C 14: 122,639,387 (GRCm39) I317T probably damaging Het
Col13a1 T A 10: 61,699,758 (GRCm39) T476S unknown Het
Cyp4f15 T C 17: 32,919,205 (GRCm39) S343P probably damaging Het
D630003M21Rik T C 2: 158,059,112 (GRCm39) T263A probably benign Het
Fbxo28 A G 1: 182,157,526 (GRCm39) V97A possibly damaging Het
Frem2 C T 3: 53,427,486 (GRCm39) V2889I probably damaging Het
Garnl3 T C 2: 32,895,080 (GRCm39) E663G probably damaging Het
Gen1 T A 12: 11,299,186 (GRCm39) K338M probably damaging Het
Gfod2 A G 8: 106,449,653 (GRCm39) S95P probably benign Het
H2-T13 T A 17: 36,392,382 (GRCm39) H31L unknown Het
Heatr1 A G 13: 12,436,266 (GRCm39) Q1224R probably damaging Het
Hectd4 A G 5: 121,437,551 (GRCm39) K1059E possibly damaging Het
Hmgcs2 C T 3: 98,198,232 (GRCm39) A45V possibly damaging Het
Hnmt C A 2: 23,893,655 (GRCm39) V280L probably benign Het
Ifi35 G T 11: 101,348,091 (GRCm39) V66L probably benign Het
Kcnn2 T C 18: 45,694,379 (GRCm39) I188T probably damaging Het
Klhl8 C A 5: 104,012,111 (GRCm39) A575S probably benign Het
Krt6a T C 15: 101,601,446 (GRCm39) D225G probably benign Het
Lrtm2 T C 6: 119,294,384 (GRCm39) Y249C probably damaging Het
Med12l C T 3: 58,984,498 (GRCm39) R479C probably damaging Het
Muc5ac A T 7: 141,352,637 (GRCm39) Y709F possibly damaging Het
Nsd2 G A 5: 34,028,796 (GRCm39) A162T probably damaging Het
Or6c38 A G 10: 128,929,201 (GRCm39) M214T probably benign Het
Phaf1 C A 8: 105,957,840 (GRCm39) Q49K probably benign Het
Polr2h T C 16: 20,539,285 (GRCm39) Y90H possibly damaging Het
Prkaa1 A T 15: 5,205,969 (GRCm39) E275V probably damaging Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rhcg A T 7: 79,244,564 (GRCm39) L496* probably null Het
Rnf213 A G 11: 119,318,448 (GRCm39) E1084G Het
Safb2 ACTTCTTCT ACTTCT 17: 56,878,292 (GRCm39) probably benign Het
Slc14a1 T A 18: 78,154,598 (GRCm39) I263F probably benign Het
Slc40a1 C T 1: 45,948,671 (GRCm39) M536I possibly damaging Het
Slco6c1 T A 1: 96,996,775 (GRCm39) probably null Het
Stk32a T C 18: 43,394,405 (GRCm39) F118S probably damaging Het
Sytl1 G T 4: 132,980,934 (GRCm39) R467S possibly damaging Het
Thbs2 T C 17: 14,896,526 (GRCm39) I788V probably benign Het
Tmed6 T A 8: 107,788,390 (GRCm39) R186* probably null Het
Trnau1ap G A 4: 132,052,565 (GRCm39) R78C probably damaging Het
Trpv1 A T 11: 73,135,039 (GRCm39) D412V possibly damaging Het
Ttc16 C T 2: 32,647,329 (GRCm39) V688M probably benign Het
Ubr5 C A 15: 37,997,420 (GRCm39) L1738F Het
Vmn2r89 A G 14: 51,692,501 (GRCm39) I101M probably benign Het
Wdr27 C T 17: 15,148,651 (GRCm39) R114Q possibly damaging Het
Wdr48 A G 9: 119,749,730 (GRCm39) H563R possibly damaging Het
Wdr49 A C 3: 75,205,419 (GRCm39) S666A probably benign Het
Wwox T C 8: 115,433,110 (GRCm39) S259P probably damaging Het
Zfp160 T A 17: 21,240,354 (GRCm39) D12E possibly damaging Het
Zfp800 A G 6: 28,243,172 (GRCm39) Y598H probably benign Het
Zfp970 T C 2: 177,167,536 (GRCm39) L370P probably damaging Het
Zmat5 A T 11: 4,672,431 (GRCm39) D16V probably damaging Het
Other mutations in Gfi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02105:Gfi1 APN 5 107,871,588 (GRCm39) splice site probably null
Pileup UTSW 5 107,865,634 (GRCm39) missense probably damaging 1.00
Super8 UTSW 5 107,868,009 (GRCm39) missense probably damaging 0.99
R1314:Gfi1 UTSW 5 107,869,740 (GRCm39) splice site probably null
R2351:Gfi1 UTSW 5 107,869,640 (GRCm39) missense probably damaging 1.00
R2680:Gfi1 UTSW 5 107,869,297 (GRCm39) missense probably damaging 1.00
R4687:Gfi1 UTSW 5 107,871,676 (GRCm39) missense probably damaging 1.00
R4885:Gfi1 UTSW 5 107,871,152 (GRCm39) missense probably damaging 1.00
R4951:Gfi1 UTSW 5 107,868,009 (GRCm39) missense probably damaging 0.99
R5540:Gfi1 UTSW 5 107,867,991 (GRCm39) missense probably damaging 0.99
R6193:Gfi1 UTSW 5 107,869,397 (GRCm39) missense probably benign 0.45
R6782:Gfi1 UTSW 5 107,873,819 (GRCm39) critical splice donor site probably null
R6993:Gfi1 UTSW 5 107,865,634 (GRCm39) missense probably damaging 1.00
R7378:Gfi1 UTSW 5 107,871,095 (GRCm39) missense possibly damaging 0.57
R7981:Gfi1 UTSW 5 107,873,543 (GRCm39) intron probably benign
R8009:Gfi1 UTSW 5 107,871,667 (GRCm39) missense probably damaging 1.00
R8821:Gfi1 UTSW 5 107,868,138 (GRCm39) missense probably damaging 1.00
R8831:Gfi1 UTSW 5 107,868,138 (GRCm39) missense probably damaging 1.00
R9011:Gfi1 UTSW 5 107,873,425 (GRCm39) critical splice donor site probably null
R9072:Gfi1 UTSW 5 107,865,725 (GRCm39) missense possibly damaging 0.86
R9114:Gfi1 UTSW 5 107,869,370 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAACCGCTAAACTGTGTGCC -3'
(R):5'- AGGAGTTGGCAAGGATACCC -3'

Sequencing Primer
(F):5'- AAACTGTGTGCCCCTCTATTCCAG -3'
(R):5'- AGTTGGCAAGGATACCCCCTTC -3'
Posted On 2022-02-07