Mutagenetix > Incidental Mutation

Incidental Mutation 'R6193:Gfi1'

502703

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

044333-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6193 (G1)

Quality Score

80.0075

Status

Not validated

Chromosome

Chromosomal Location

107864521-107873671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107869397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 278 (Y278N)

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 benign
Transcript: ENSMUST00000031205
AA Change: Y212N

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135884
Gene: ENSMUSG00000029275
AA Change: Y212N

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
AA Change: Y278N

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135039
Gene: ENSMUSG00000029275
AA Change: Y278N

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
AA Change: Y212N

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137229
Gene: ENSMUSG00000029275
AA Change: Y212N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161480

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162148

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	G	15: 60,792,629 (GRCm39)	I106T	probably benign	Het
Aagab	A	C	9: 63,524,795 (GRCm39)	N35H	possibly damaging	Het
Abcf1	A	C	17: 36,274,464 (GRCm39)	N161K	possibly damaging	Het
Adam11	T	A	11: 102,662,087 (GRCm39)	H140Q	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef26	A	T	3: 62,247,213 (GRCm39)	D99V	possibly damaging	Het
Arhgef28	A	G	13: 98,121,888 (GRCm39)	S559P	probably damaging	Het
Capn11	A	G	17: 45,964,430 (GRCm39)		probably null	Het
Ccdc157	T	C	11: 4,101,912 (GRCm39)	H3R	probably damaging	Het
Cd101	A	G	3: 100,927,778 (GRCm39)	L101P	probably damaging	Het
Clca3a1	A	G	3: 144,464,993 (GRCm39)	V80A	possibly damaging	Het
Cnot6	T	A	11: 49,570,850 (GRCm39)	I381F	probably benign	Het
Cntn3	T	A	6: 102,185,092 (GRCm39)	I675F	probably benign	Het
Cplx2	C	T	13: 54,527,406 (GRCm39)	P97S	probably damaging	Het
Crtac1	T	A	19: 42,312,236 (GRCm39)	E159V	possibly damaging	Het
Cyp27a1	A	G	1: 74,776,231 (GRCm39)	I416V	probably benign	Het
Cyp2d37-ps	T	C	15: 82,574,014 (GRCm39)		noncoding transcript	Het
Cyp2d9	A	G	15: 82,336,728 (GRCm39)	T26A	probably benign	Het
Cyp2j7	T	A	4: 96,083,440 (GRCm39)	R503S	probably damaging	Het
Dclk1	A	T	3: 55,424,292 (GRCm39)		probably null	Het
Dgkq	A	T	5: 108,803,366 (GRCm39)	C231*	probably null	Het
Dync1i1	T	A	6: 5,730,679 (GRCm39)	M38K	probably benign	Het
Eif2ak4	C	T	2: 118,231,081 (GRCm39)		probably benign	Het
Ephx2	A	T	14: 66,326,961 (GRCm39)	D411E	probably benign	Het
Ephx2	T	G	14: 66,349,669 (GRCm39)	Q34P	probably benign	Het
Fer1l5	A	T	1: 36,448,517 (GRCm39)	N1092Y	probably benign	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fzd4	A	T	7: 89,057,197 (GRCm39)	K415*	probably null	Het
Gm11565	T	C	11: 99,806,070 (GRCm39)	M154T	probably benign	Het
Gm7247	A	G	14: 51,759,299 (GRCm39)	I93V	possibly damaging	Het
Golm1	T	G	13: 59,792,972 (GRCm39)	I178L	probably benign	Het
Grip1	A	T	10: 119,874,219 (GRCm39)	D302V	probably damaging	Het
Gtf2h1	G	A	7: 46,456,254 (GRCm39)		probably null	Het
Herc2	C	A	7: 55,806,649 (GRCm39)	P2372T	probably damaging	Het
Ighv1-59	C	A	12: 115,298,786 (GRCm39)	L89F	probably damaging	Het
Ighv7-4	G	A	12: 114,186,445 (GRCm39)	A109V	possibly damaging	Het
Kcnk10	G	T	12: 98,407,031 (GRCm39)	Q222K	probably benign	Het
Klra6	A	T	6: 129,995,881 (GRCm39)	M159K	probably benign	Het
Lzts3	T	C	2: 130,479,306 (GRCm39)	T36A	probably damaging	Het
Mgam	T	A	6: 40,724,854 (GRCm39)	Y443*	probably null	Het
Mmp23	T	A	4: 155,735,990 (GRCm39)	M221L	possibly damaging	Het
Mmp7	T	A	9: 7,695,519 (GRCm39)	V132E	probably damaging	Het
Npas2	C	A	1: 39,331,843 (GRCm39)	T86N	probably damaging	Het
Or1e32	T	A	11: 73,705,650 (GRCm39)	H86L	probably benign	Het
Or5al7	C	T	2: 85,992,628 (GRCm39)	V222M	possibly damaging	Het
Papola	A	T	12: 105,786,605 (GRCm39)	E103V	probably benign	Het
Parp9	A	T	16: 35,767,921 (GRCm39)	N34Y	possibly damaging	Het
Pcdh7	A	G	5: 57,877,666 (GRCm39)	D407G	probably damaging	Het
Pcdhb5	T	G	18: 37,455,080 (GRCm39)	Y487D	probably damaging	Het
Pira12	C	G	7: 3,901,049 (GRCm39)		probably null	Het
Pla2g4a	T	C	1: 149,778,181 (GRCm39)	D5G	probably damaging	Het
Plxnb1	T	C	9: 108,933,971 (GRCm39)	L733P	probably benign	Het
Ppfia4	T	C	1: 134,251,899 (GRCm39)	D425G	probably benign	Het
Prss2	T	G	6: 41,498,754 (GRCm39)	I6S	unknown	Het
Psme3ip1	A	G	8: 95,302,348 (GRCm39)	S228P	probably damaging	Het
Qrfprl	T	A	6: 65,433,142 (GRCm39)	F321I	probably damaging	Het
Qrich2	T	A	11: 116,344,979 (GRCm39)	I1693L	probably benign	Het
Rad52	T	C	6: 119,897,143 (GRCm39)	V324A	probably benign	Het
Rapgef2	A	T	3: 78,976,751 (GRCm39)	Y1352N	possibly damaging	Het
Rsad2	T	G	12: 26,506,186 (GRCm39)	Y78S	probably damaging	Het
Scaf1	A	G	7: 44,656,204 (GRCm39)		probably benign	Het
Sfxn5	T	C	6: 85,246,918 (GRCm39)	T131A	probably damaging	Het
Slc4a10	T	G	2: 62,073,701 (GRCm39)		probably null	Het
Spmap2l	A	G	5: 77,164,183 (GRCm39)	D62G	possibly damaging	Het
Syt1	A	G	10: 108,336,597 (GRCm39)	V357A	probably benign	Het
Tenm2	T	A	11: 35,937,621 (GRCm39)	D1685V	probably damaging	Het
Tmc3	A	G	7: 83,252,543 (GRCm39)	T315A	probably benign	Het
Tmem266	T	C	9: 55,344,493 (GRCm39)	L375P	probably benign	Het
Tsks	T	G	7: 44,603,263 (GRCm39)	L355R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ube2f	T	A	1: 91,203,041 (GRCm39)		probably null	Het
Usp37	A	T	1: 74,532,087 (GRCm39)	V102D	probably damaging	Het
Usp44	G	A	10: 93,683,010 (GRCm39)		probably benign	Het
Vmn2r115	T	C	17: 23,575,983 (GRCm39)	F527S	probably benign	Het
Zfp101	A	C	17: 33,600,720 (GRCm39)	Y345*	probably null	Het
Zfp160	C	A	17: 21,247,124 (GRCm39)	A558E	probably benign	Het
Zfp236	T	C	18: 82,622,372 (GRCm39)	E1686G	probably damaging	Het
Zfp655	T	A	5: 145,181,586 (GRCm39)	D481E	probably benign	Het
Zswim4	A	G	8: 84,952,774 (GRCm39)	V396A	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
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'- AAGGTCTTGCCGCACATCTC -3'
(R):5'- TACACGCTGCCTTTCAAGC -3'

Sequencing Primer
(F):5'- ACGCAAAGGGTCTTGTGC -3'
(R):5'- TTCAAGCCCTATGCATGGAG -3'

Posted On

2018-02-27