Incidental Mutation 'R4687:Gfi1'
ID 353746
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 041938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 107864521-107873671 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107871676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 10 (K10R)
Ref Sequence ENSEMBL: ENSMUSP00000135880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031205] [ENSMUST00000065478] [ENSMUST00000159164] [ENSMUST00000159263]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000031205
AA Change: K10R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135884
Gene: ENSMUSG00000029275
AA Change: K10R

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 damaging
Transcript: ENSMUST00000065478
AA Change: K76R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135039
Gene: ENSMUSG00000029275
AA Change: K76R

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 damaging
Transcript: ENSMUST00000159164
AA Change: K10R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137229
Gene: ENSMUSG00000029275
AA Change: K10R

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 damaging
Transcript: ENSMUST00000159263
AA Change: K10R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135880
Gene: ENSMUSG00000029275
AA Change: K10R

DomainStartEndE-ValueType
low complexity region 174 181 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162148
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,210,985 (GRCm39) Y45N probably damaging Het
Agbl3 T C 6: 34,775,261 (GRCm39) V189A probably damaging Het
Akip1 C A 7: 109,304,193 (GRCm39) S90* probably null Het
Amn A T 12: 111,242,502 (GRCm39) D439V probably benign Het
Arhgap17 T A 7: 122,920,826 (GRCm39) D149V probably damaging Het
Atp6v0a4 A T 6: 38,069,400 (GRCm39) I76N possibly damaging Het
Atp6v1h A T 1: 5,203,308 (GRCm39) N291I probably damaging Het
Baiap2l2 G T 15: 79,143,453 (GRCm39) P462T probably damaging Het
Bves C T 10: 45,230,936 (GRCm39) probably null Het
Cabp7 T A 11: 4,689,265 (GRCm39) K127* probably null Het
Cacna1h A G 17: 25,612,884 (GRCm39) V313A possibly damaging Het
Camkk2 T C 5: 122,891,787 (GRCm39) H245R probably damaging Het
Celsr1 T A 15: 85,816,661 (GRCm39) S1761C possibly damaging Het
Cfap46 T C 7: 139,207,372 (GRCm39) E1849G possibly damaging Het
Ciz1 T C 2: 32,257,477 (GRCm39) L174P probably damaging Het
Crim1 G T 17: 78,610,454 (GRCm39) C303F probably damaging Het
Cyp26c1 A G 19: 37,681,385 (GRCm39) Q396R probably damaging Het
Dnajc7 G A 11: 100,490,126 (GRCm39) P43L probably damaging Het
Dpf2 T C 19: 5,957,040 (GRCm39) H16R probably damaging Het
Dsp A G 13: 38,375,595 (GRCm39) T1127A probably damaging Het
Dst T C 1: 34,240,204 (GRCm39) L1525P probably damaging Het
Ehf T A 2: 103,097,471 (GRCm39) D192V probably damaging Het
Frem1 G T 4: 82,938,868 (GRCm39) N71K probably damaging Het
Furin T A 7: 80,043,195 (GRCm39) T339S probably benign Het
Gad1 T A 2: 70,431,064 (GRCm39) I569N possibly damaging Het
Gm20775 T A Y: 10,641,258 (GRCm39) noncoding transcript Homo
Gpn3 A C 5: 122,516,638 (GRCm39) D89A possibly damaging Het
Gpr18 T A 14: 122,149,090 (GRCm39) R312* probably null Het
Gsap T C 5: 21,451,969 (GRCm39) probably benign Het
H2-Ab1 C A 17: 34,483,783 (GRCm39) T48K probably damaging Het
Hmcn2 A T 2: 31,328,297 (GRCm39) N4326I probably benign Het
Igkv4-51 A C 6: 69,658,714 (GRCm39) probably benign Het
Insr T C 8: 3,211,709 (GRCm39) H1104R probably benign Het
Ipo13 A T 4: 117,758,773 (GRCm39) N697K probably benign Het
Iqcm T G 8: 76,489,617 (GRCm39) F362V probably damaging Het
Irak4 T C 15: 94,464,704 (GRCm39) S425P probably damaging Het
Jakmip2 T C 18: 43,710,477 (GRCm39) E242G possibly damaging Het
Kdm4a T C 4: 118,001,280 (GRCm39) K829R probably damaging Het
Kdr T C 5: 76,129,452 (GRCm39) N145S possibly damaging Het
Klra9 A T 6: 130,162,480 (GRCm39) D185E probably benign Het
Lcn12 T C 2: 25,383,333 (GRCm39) N15S probably benign Het
Mei4 T A 9: 81,809,370 (GRCm39) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm39) S320T probably benign Het
Mrps5 C G 2: 127,432,690 (GRCm39) A37G probably benign Het
Mttp A G 3: 137,798,496 (GRCm39) I800T possibly damaging Het
Nags A T 11: 102,039,022 (GRCm39) Q451L probably damaging Het
Nbea T C 3: 55,965,486 (GRCm39) T476A probably damaging Het
Ndufb10 T C 17: 24,941,393 (GRCm39) E145G possibly damaging Het
Neb T G 2: 52,194,047 (GRCm39) S660R possibly damaging Het
Nppb A G 4: 148,070,753 (GRCm39) K43E probably benign Het
Nup188 A T 2: 30,220,645 (GRCm39) Q906L probably benign Het
Or10k2 T A 8: 84,268,489 (GRCm39) S239T probably damaging Het
Or4c12 T C 2: 89,774,213 (GRCm39) D82G probably damaging Het
Or8c17 C A 9: 38,180,710 (GRCm39) N292K probably damaging Het
Or9s23 T C 1: 92,501,052 (GRCm39) I53T possibly damaging Het
Ovch2 T A 7: 107,395,755 (GRCm39) I88F possibly damaging Het
Palm3 A G 8: 84,756,564 (GRCm39) E692G probably benign Het
Pcsk6 T C 7: 65,633,501 (GRCm39) F578L probably damaging Het
Piezo2 A C 18: 63,203,034 (GRCm39) D1535E probably damaging Het
Ppp1r15b T C 1: 133,059,873 (GRCm39) V130A probably benign Het
Proca1 T C 11: 78,095,724 (GRCm39) Y32H probably damaging Het
Prtg T A 9: 72,798,080 (GRCm39) V682E probably damaging Het
Pyroxd1 A T 6: 142,307,594 (GRCm39) M455L probably benign Het
Rasa1 T C 13: 85,374,754 (GRCm39) D739G possibly damaging Het
Scn3a T C 2: 65,295,074 (GRCm39) I1550V possibly damaging Het
Sepsecs T C 5: 52,801,213 (GRCm39) D483G probably benign Het
Setd7 T C 3: 51,457,776 (GRCm39) D17G probably damaging Het
Sipa1l2 C T 8: 126,217,984 (GRCm39) C451Y probably damaging Het
Slc31a1 A G 4: 62,306,939 (GRCm39) Y165C probably damaging Het
Smg5 T C 3: 88,249,776 (GRCm39) F68L possibly damaging Het
Sptbn5 A G 2: 119,907,689 (GRCm39) probably benign Het
Stk3 A G 15: 35,114,711 (GRCm39) I65T probably damaging Het
Tas2r115 C T 6: 132,714,247 (GRCm39) A235T possibly damaging Het
Tenm2 C T 11: 35,939,924 (GRCm39) A1400T probably benign Het
Tet1 T A 10: 62,674,570 (GRCm39) N1169Y probably benign Het
Treml2 T A 17: 48,616,425 (GRCm39) probably null Het
Tspan11 A G 6: 127,915,198 (GRCm39) E104G probably damaging Het
Wdtc1 G A 4: 133,023,742 (GRCm39) A543V probably damaging Het
Zfp148 T A 16: 33,317,189 (GRCm39) D578E probably damaging Het
Zfp735 A T 11: 73,602,682 (GRCm39) N542I probably damaging Het
Zfp735 A T 11: 73,602,681 (GRCm39) N542Y probably damaging Het
Zfp869 T A 8: 70,160,793 (GRCm39) E65D probably benign 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
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
R9183:Gfi1 UTSW 5 107,873,819 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AATCTGAGCACCGGGAAAC -3'
(R):5'- TACCACTGAGCTGTTGCAGTG -3'

Sequencing Primer
(F):5'- AGGATAGCCTCCCCCGATTC -3'
(R):5'- ATTCGTGCCACCTGTCCGAG -3'
Posted On 2015-10-21