Mutagenetix > Incidental Mutation

Incidental Mutation 'R6782:Gfi1'

531457

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

044896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107864521-107873671 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T 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

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: ENSMUST00000065478

SMART Domains

Protein: ENSMUSP00000135039
Gene: ENSMUSG00000029275

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 benign
Transcript: ENSMUST00000159164

SMART Domains

Protein: ENSMUSP00000137229
Gene: ENSMUSG00000029275

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 null
Transcript: ENSMUST00000159263

SMART Domains

Protein: ENSMUSP00000135880
Gene: ENSMUSG00000029275

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

Predicted Effect

probably null
Transcript: ENSMUST00000159263

SMART Domains

Protein: ENSMUSP00000135880
Gene: ENSMUSG00000029275

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,847,308 (GRCm39)	A724V	probably damaging	Het
Abcc3	A	T	11: 94,249,776 (GRCm39)	F1055L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd17	T	C	5: 90,402,597 (GRCm39)	K1488R	possibly damaging	Het
Ano1	G	A	7: 144,175,424 (GRCm39)	T498I	probably damaging	Het
Arhgap42	T	A	9: 9,115,721 (GRCm39)	K118N	probably damaging	Het
Arl5b	A	G	2: 15,077,993 (GRCm39)	E106G	probably damaging	Het
Atp5mc3	C	T	2: 73,739,672 (GRCm39)	R56Q	probably benign	Het
Bbx	T	C	16: 50,020,928 (GRCm39)	R749G	probably benign	Het
Cacna1g	A	G	11: 94,350,376 (GRCm39)	S490P	probably damaging	Het
Ccdc63	A	T	5: 122,249,077 (GRCm39)	Y417*	probably null	Het
Cep162	A	T	9: 87,093,737 (GRCm39)	N880K	probably benign	Het
Chd2	G	A	7: 73,125,127 (GRCm39)	Q77*	probably null	Het
Cntrl	T	G	2: 35,060,658 (GRCm39)	M1397R	possibly damaging	Het
Dcaf7	A	G	11: 105,945,581 (GRCm39)	Y310C	probably damaging	Het
Dnah5	T	A	15: 28,449,302 (GRCm39)	S4235T	possibly damaging	Het
Dot1l	C	T	10: 80,625,224 (GRCm39)	P1157L	probably damaging	Het
Esco2	T	C	14: 66,057,465 (GRCm39)	T577A	probably benign	Het
Foxp1	T	C	6: 98,907,106 (GRCm39)	D624G	probably damaging	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm5113	G	A	7: 29,878,178 (GRCm39)	V89I	probably benign	Het
Gtf3c2	A	C	5: 31,327,180 (GRCm39)	L382R	probably benign	Het
H3c2	T	C	13: 23,936,393 (GRCm39)	S11P	probably benign	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Htr5b	T	C	1: 121,438,227 (GRCm39)	I335V	probably benign	Het
Ifi206	A	G	1: 173,308,923 (GRCm39)	S358P	unknown	Het
Loxhd1	T	A	18: 77,518,873 (GRCm39)	V1893D	probably damaging	Het
Mical2	A	G	7: 111,945,968 (GRCm39)	R11G	probably damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Npr1	T	C	3: 90,363,560 (GRCm39)	N821S	probably benign	Het
Or4g16	A	G	2: 111,137,090 (GRCm39)	D180G	probably damaging	Het
Or52a24	A	G	7: 103,381,549 (GRCm39)	T139A	possibly damaging	Het
Or5p63	T	C	7: 107,811,670 (GRCm39)	D22G	probably benign	Het
Or5p70	T	G	7: 107,994,744 (GRCm39)	M139R	probably damaging	Het
Pi4ka	T	A	16: 17,143,852 (GRCm39)	D739V	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Ptprd	T	C	4: 76,243,377 (GRCm39)		probably null	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Ric8b	T	C	10: 84,783,391 (GRCm39)	V83A	probably damaging	Het
Sdc2	C	A	15: 33,028,281 (GRCm39)	T133K	probably damaging	Het
Slc12a7	T	A	13: 73,947,088 (GRCm39)	V592D	probably damaging	Het
Sorcs1	G	T	19: 50,164,560 (GRCm39)	Y990*	probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Tada1	A	G	1: 166,217,541 (GRCm39)	N226S	probably benign	Het
Tenm3	A	G	8: 49,099,291 (GRCm39)		probably null	Het
Tll1	A	G	8: 64,524,315 (GRCm39)	V457A	probably benign	Het
Tmem232	T	C	17: 65,807,119 (GRCm39)	K25E	possibly damaging	Het
Tnrc18	T	C	5: 142,773,063 (GRCm39)	S406G	unknown	Het
Ush2a	A	G	1: 188,089,031 (GRCm39)	M329V	probably benign	Het
Vmn2r107	T	C	17: 20,577,141 (GRCm39)	S380P	probably damaging	Het
Vmn2r73	A	G	7: 85,519,563 (GRCm39)	M465T	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp217	T	C	2: 169,958,178 (GRCm39)	D463G	probably damaging	Het
Zfp345	T	C	2: 150,315,274 (GRCm39)	S88G	probably damaging	Het
Zfp975	A	C	7: 42,311,454 (GRCm39)	N386K	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
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'- AACCGCTAAACTGTGTGCCC -3'
(R):5'- AGGAGTTGGCAAGGATACCC -3'

Sequencing Primer
(F):5'- AAACTGTGTGCCCCTCTATTCCAG -3'
(R):5'- AGTTGGCAAGGATACCCCCTTC -3'

Posted On

2018-08-29