Mutagenetix > Incidental Mutation

Incidental Mutation 'R2351:Gfi1'

246119

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

040333-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2351 (G1)

Quality Score

145

Status

Not validated

Chromosome

Chromosomal Location

107864521-107873671 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107869640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 131 (S131P)

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: S131P

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

SMART Domains

Protein: ENSMUSP00000135884
Gene: ENSMUSG00000029275
AA Change: S131P

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: S197P

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135039
Gene: ENSMUSG00000029275
AA Change: S197P

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: S131P

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

SMART Domains

Protein: ENSMUSP00000137229
Gene: ENSMUSG00000029275
AA Change: S131P

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: ENSMUST00000159263
AA Change: S131P

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

SMART Domains

Protein: ENSMUSP00000135880
Gene: ENSMUSG00000029275
AA Change: S131P

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	T	1: 138,779,846 (GRCm39)	Y135*	probably null	Het
Aadacl4fm1	A	T	4: 144,255,348 (GRCm39)	Y256F	probably damaging	Het
Acad10	A	T	5: 121,767,990 (GRCm39)	I820K	probably benign	Het
Arl8b	A	T	6: 108,798,484 (GRCm39)	I178F	possibly damaging	Het
Asap1	A	T	15: 64,007,653 (GRCm39)		probably null	Het
Atp2b2	A	T	6: 113,766,718 (GRCm39)	I552N	possibly damaging	Het
C130074G19Rik	G	T	1: 184,615,060 (GRCm39)	D43E	probably benign	Het
Ccdc162	C	A	10: 41,431,968 (GRCm39)		probably null	Het
Ccdc186	T	G	19: 56,787,129 (GRCm39)	K613T	possibly damaging	Het
Cggbp1	T	A	16: 64,676,046 (GRCm39)	D37E	possibly damaging	Het
Cntn3	A	T	6: 102,314,344 (GRCm39)	N123K	possibly damaging	Het
Col18a1	C	T	10: 76,948,538 (GRCm39)	G325S	probably benign	Het
Cwc25	G	T	11: 97,638,218 (GRCm39)	T405K	probably damaging	Het
Cyp4a31	T	C	4: 115,428,510 (GRCm39)	V370A	possibly damaging	Het
Cyp4f13	T	G	17: 33,144,570 (GRCm39)	I309L	probably benign	Het
Dap3	A	T	3: 88,840,870 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,403,301 (GRCm39)	D3080E	probably benign	Het
Ern2	A	G	7: 121,770,731 (GRCm39)	V762A	probably damaging	Het
Fgr	C	T	4: 132,724,548 (GRCm39)	R255C	probably damaging	Het
Gcm2	A	T	13: 41,257,094 (GRCm39)	D218E	probably benign	Het
Grm8	A	T	6: 28,126,118 (GRCm39)	C3S	possibly damaging	Het
Gucy2d	A	G	7: 98,113,226 (GRCm39)	D840G	probably benign	Het
H3f3a	T	C	1: 180,637,723 (GRCm39)	T81A	probably benign	Het
Igsf23	C	T	7: 19,678,723 (GRCm39)	W22*	probably null	Het
Il12rb2	G	A	6: 67,338,928 (GRCm39)	Q3*	probably null	Het
Ino80d	A	T	1: 63,124,994 (GRCm39)	L156H	probably benign	Het
Kdm2a	G	A	19: 4,379,154 (GRCm39)	P554S	probably benign	Het
Lefty1	T	A	1: 180,764,807 (GRCm39)	L244H	possibly damaging	Het
Mdn1	T	A	4: 32,750,010 (GRCm39)	S4398T	probably benign	Het
Myh10	A	G	11: 68,683,965 (GRCm39)	D1126G	probably damaging	Het
Myo16	G	A	8: 10,644,905 (GRCm39)	D1746N	possibly damaging	Het
Myom1	A	T	17: 71,341,574 (GRCm39)	D111V	probably damaging	Het
Naip6	T	A	13: 100,420,169 (GRCm39)	D1367V	probably damaging	Het
Nbeal1	A	T	1: 60,276,257 (GRCm39)	H666L	possibly damaging	Het
Nsmaf	T	A	4: 6,437,921 (GRCm39)	I77F	probably damaging	Het
Nvl	T	C	1: 180,958,357 (GRCm39)	T231A	probably benign	Het
Obscn	T	C	11: 59,003,438 (GRCm39)	R1287G	probably damaging	Het
Opn3	T	C	1: 175,520,077 (GRCm39)	D9G	probably benign	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or4c114	C	T	2: 88,904,743 (GRCm39)	G231S	possibly damaging	Het
Or6a2	A	T	7: 106,600,883 (GRCm39)	Y61*	probably null	Het
Or6c8b	A	G	10: 128,882,797 (GRCm39)	V45A	probably benign	Het
Or6k2	T	A	1: 173,986,486 (GRCm39)	V49D	probably damaging	Het
Or8k24	C	T	2: 86,216,471 (GRCm39)	C97Y	probably damaging	Het
Parp10	A	T	15: 76,127,056 (GRCm39)	S101R	probably benign	Het
Pdhx	T	A	2: 102,854,562 (GRCm39)	K399*	probably null	Het
Pdia4	A	T	6: 47,773,848 (GRCm39)		probably null	Het
Pla2g4f	T	C	2: 120,130,923 (GRCm39)	D844G	probably benign	Het
Prtg	C	A	9: 72,764,106 (GRCm39)	D526E	probably damaging	Het
Rassf6	T	C	5: 90,779,418 (GRCm39)	D5G	probably benign	Het
Riok3	C	T	18: 12,282,724 (GRCm39)	Q388*	probably null	Het
Robo4	T	A	9: 37,322,956 (GRCm39)	F825L	probably benign	Het
Rpl13a-ps1	C	T	19: 50,018,868 (GRCm39)	E103K	probably benign	Het
Rpl18a	A	T	8: 71,348,864 (GRCm39)	H37Q	probably benign	Het
Ryr1	A	T	7: 28,774,718 (GRCm39)	S2301T	probably benign	Het
Slc39a9	T	A	12: 80,691,660 (GRCm39)	D2E	possibly damaging	Het
Slco5a1	C	T	1: 13,060,158 (GRCm39)	V188I	probably benign	Het
Son	T	A	16: 91,454,547 (GRCm39)	M1098K	probably damaging	Het
Spag9	A	G	11: 93,983,726 (GRCm39)	D701G	probably damaging	Het
Ssmem1	T	C	6: 30,512,495 (GRCm39)	F46S	possibly damaging	Het
Sspo	C	T	6: 48,441,803 (GRCm39)	R1938W	probably damaging	Het
Sstr3	T	C	15: 78,424,121 (GRCm39)	I209V	probably benign	Het
Tlk2	A	G	11: 105,100,656 (GRCm39)	Y87C	probably damaging	Het
Traf4	G	A	11: 78,051,002 (GRCm39)	R385W	probably damaging	Het
Triobp	G	A	15: 78,888,780 (GRCm39)	V1962M	probably benign	Het
Tspan12	T	G	6: 21,835,506 (GRCm39)	I56L	probably benign	Het
Upp2	T	A	2: 58,653,674 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,869,457 (GRCm39)	W2654R	probably damaging	Het
Zc3h18	C	T	8: 123,129,926 (GRCm39)	R435*	probably null	Het
Zfta	T	C	19: 7,399,609 (GRCm39)	I247T	probably damaging	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
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
R9183:Gfi1	UTSW	5	107,873,819 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CCATGATCTTGGTACAGCCG -3'
(R):5'- GCGCCTGACAATAGTGATGGTG -3'

Sequencing Primer
(F):5'- AAGTCGCCGTAGAGCCC -3'
(R):5'- AGTGATGGTGCACTGCG -3'

Posted On

2014-10-30