Mutagenetix > Incidental Mutation

Incidental Mutation 'R6993:Gfi1'

543959

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

045099-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107864521-107873671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107865634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 481 (H481L)

Ref Sequence

ENSEMBL: ENSMUSP00000135039 (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: H415L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135884
Gene: ENSMUSG00000029275
AA Change: H415L

Domain	Start	End	E-Value	Type
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: H481L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135039
Gene: ENSMUSG00000029275
AA Change: H481L

Domain	Start	End	E-Value	Type
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: H415L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000137229
Gene: ENSMUSG00000029275
AA Change: H415L

Domain	Start	End	E-Value	Type
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: ENSMUST00000159263

SMART Domains

Protein: ENSMUSP00000135880
Gene: ENSMUSG00000029275

Domain	Start	End	E-Value	Type
low complexity region	174	181	N/A	INTRINSIC

Meta Mutation Damage Score

0.9227

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,975,053 (GRCm39)	E10G	possibly damaging	Het
Akap9	A	G	5: 4,115,866 (GRCm39)	I3429V	possibly damaging	Het
Braf	T	A	6: 39,620,097 (GRCm39)	I441F	probably damaging	Het
C5ar1	A	T	7: 15,982,837 (GRCm39)	V61E	probably damaging	Het
Camk2a	C	A	18: 61,076,247 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,294,673 (GRCm39)	Y579C	probably damaging	Het
Celf1	T	C	2: 90,840,821 (GRCm39)	Y363H	probably damaging	Het
Cntn3	T	C	6: 102,255,365 (GRCm39)	T178A	probably damaging	Het
Cryab	C	T	9: 50,664,748 (GRCm39)	P58S	probably benign	Het
Ctsf	G	T	19: 4,908,511 (GRCm39)	R290L	probably benign	Het
Ctsw	T	A	19: 5,515,865 (GRCm39)	I258F	probably damaging	Het
Dnah7b	T	C	1: 46,234,299 (GRCm39)		probably null	Het
Drg1	TCATCTTCCA	TCA	11: 3,200,294 (GRCm39)		probably null	Het
Etfb	A	G	7: 43,105,978 (GRCm39)	T172A	possibly damaging	Het
Etfdh	A	G	3: 79,519,338 (GRCm39)	Y272H	probably benign	Het
Ewsr1	C	T	11: 5,021,573 (GRCm39)	R454Q	probably benign	Het
F2rl2	T	A	13: 95,837,642 (GRCm39)	I229N	probably damaging	Het
Fam162a	A	T	16: 35,870,215 (GRCm39)	I88N	probably damaging	Het
Fastkd5	A	G	2: 130,458,459 (GRCm39)	S44P	probably benign	Het
Fat3	T	G	9: 15,830,517 (GRCm39)	S4326R	probably damaging	Het
Fbf1	T	C	11: 116,043,610 (GRCm39)	K400E	probably benign	Het
Fndc7	A	G	3: 108,783,907 (GRCm39)	V234A	probably benign	Het
Gm5591	T	A	7: 38,218,647 (GRCm39)	H742L	probably benign	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
H2-DMb1	A	C	17: 34,376,324 (GRCm39)	T148P	possibly damaging	Het
H2-T3	A	G	17: 36,497,962 (GRCm39)	L317P	probably damaging	Het
Hes3	T	C	4: 152,371,380 (GRCm39)	T190A	probably benign	Het
Hivep1	C	T	13: 42,312,190 (GRCm39)	L1477F	possibly damaging	Het
Insr	C	T	8: 3,308,752 (GRCm39)	G95S	probably damaging	Het
Irf9	A	G	14: 55,846,414 (GRCm39)	I394V	probably benign	Het
Kat2b	T	C	17: 53,945,550 (GRCm39)	L323P	probably damaging	Het
Kdr	T	C	5: 76,133,071 (GRCm39)	D69G	probably benign	Het
Krt1c	C	T	15: 101,724,395 (GRCm39)	E290K	probably damaging	Het
Krtap4-6	G	T	11: 99,556,545 (GRCm39)	R61S	unknown	Het
Ldc1	A	G	4: 130,112,106 (GRCm39)	L192P	probably damaging	Het
Lrrc27	A	T	7: 138,822,540 (GRCm39)	K477M	probably damaging	Het
Lvrn	T	C	18: 47,015,365 (GRCm39)	V579A	probably benign	Het
Malrd1	A	T	2: 16,155,602 (GRCm39)	I2004L	unknown	Het
Mast4	A	T	13: 102,872,482 (GRCm39)	N2103K	probably benign	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Myo18a	T	A	11: 77,749,900 (GRCm39)		probably benign	Het
Or10d5	T	A	9: 39,861,933 (GRCm39)	M45L	probably benign	Het
Or52ab2	G	T	7: 102,969,998 (GRCm39)		probably benign	Het
Pcdhga10	A	G	18: 37,882,309 (GRCm39)	Y690C	probably damaging	Het
Pdcd2	A	G	17: 15,747,343 (GRCm39)	Y65H	probably damaging	Het
Ppp1r12a	A	G	10: 108,076,698 (GRCm39)	E309G	probably benign	Het
Psmb8	A	G	17: 34,418,617 (GRCm39)	D123G	probably damaging	Het
Ptcd3	A	T	6: 71,862,299 (GRCm39)	W513R	probably damaging	Het
Ptx4	G	A	17: 25,343,898 (GRCm39)	V383I	possibly damaging	Het
Ric1	T	C	19: 29,564,013 (GRCm39)	L589S	probably damaging	Het
Rmnd5b	A	G	11: 51,515,427 (GRCm39)		probably benign	Het
Sec16a	A	T	2: 26,313,586 (GRCm39)	S1925T	probably damaging	Het
Slc16a11	T	A	11: 70,106,842 (GRCm39)	M360K	possibly damaging	Het
Slc19a2	T	A	1: 164,088,391 (GRCm39)	F79I	probably benign	Het
Slc2a6	G	T	2: 26,917,255 (GRCm39)	S45R	probably damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Sppl3	T	A	5: 115,220,349 (GRCm39)	M87K	probably damaging	Het
Tbcel	A	T	9: 42,327,413 (GRCm39)	L330*	probably null	Het
Tbx5	A	T	5: 120,009,454 (GRCm39)	Y321F	possibly damaging	Het
Tenm3	C	T	8: 48,689,474 (GRCm39)	D2038N	probably damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Unc45a	A	T	7: 79,975,403 (GRCm39)	Y934N	probably damaging	Het
Unc80	A	T	1: 66,588,952 (GRCm39)	Q1039L	possibly damaging	Het
Vmn2r112	T	C	17: 22,822,195 (GRCm39)	L291P	probably benign	Het
Wwc2	A	T	8: 48,300,500 (GRCm39)	F988I	unknown	Het
Zfp947	G	A	17: 22,364,961 (GRCm39)	P238S	probably benign	Het

Other mutations in Gfi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GAGTTCATCTCCTCCAGCAG -3'
(R):5'- GGTCTCTCCCAGCTTTATCATAGG -3'

Sequencing Primer
(F):5'- TCCAGCAGCTCCGGGAAG -3'
(R):5'- CCCAGCTTTATCATAGGCTCATAC -3'

Posted On

2019-05-13