Mutagenetix > Incidental Mutation

Incidental Mutation 'R0321:Gfi1b'

35837

Institutional Source

Beutler Lab

Gene Symbol

Gfi1b

Ensembl Gene

ENSMUSG00000026815

Gene Name

growth factor independent 1B

Synonyms

Gfi-1B

MMRRC Submission

038531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28499462-28511994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28503897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 101 (F101S)

Ref Sequence

ENSEMBL: ENSMUSP00000128052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028156] [ENSMUST00000164290]

AlphaFold

O70237

Predicted Effect

probably benign
Transcript: ENSMUST00000028156
AA Change: F101S

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028156
Gene: ENSMUSG00000026815
AA Change: F101S

Domain	Start	End	E-Value	Type
low complexity region	39	55	N/A	INTRINSIC
ZnF_C2H2	163	186	2.95e-3	SMART
ZnF_C2H2	192	214	5.5e-3	SMART
ZnF_C2H2	220	242	4.79e-3	SMART
ZnF_C2H2	248	270	1.82e-3	SMART
ZnF_C2H2	276	298	1.47e-3	SMART
ZnF_C2H2	304	327	7.78e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155686

Predicted Effect

probably damaging
Transcript: ENSMUST00000164290
AA Change: F101S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128052
Gene: ENSMUSG00000026815
AA Change: F101S

Domain	Start	End	E-Value	Type
low complexity region	39	55	N/A	INTRINSIC
ZnF_C2H2	163	186	2.95e-3	SMART
ZnF_C2H2	192	214	5.5e-3	SMART
low complexity region	231	244	N/A	INTRINSIC
ZnF_C2H2	253	275	4.79e-3	SMART
ZnF_C2H2	281	303	1.82e-3	SMART
ZnF_C2H2	309	331	1.47e-3	SMART
ZnF_C2H2	337	360	7.78e-3	SMART

Meta Mutation Damage Score

0.1542

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.7%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for disruption of this gene die as embryos by day E15. Mature adult red blood cells and megakaryocytes fail to develop. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,620 (GRCm39)	T353A	probably benign	Het
4933402N03Rik	T	A	7: 130,747,956 (GRCm39)	Y12F	probably benign	Het
Acbd3	T	G	1: 180,579,870 (GRCm39)	F505V	probably damaging	Het
Acod1	T	C	14: 103,292,565 (GRCm39)	V363A	probably benign	Het
Adam28	T	C	14: 68,855,200 (GRCm39)	Q647R	probably damaging	Het
Akr1c18	T	A	13: 4,185,243 (GRCm39)	L296F	probably damaging	Het
Ap1b1	G	A	11: 4,982,464 (GRCm39)	A588T	probably benign	Het
Armc8	A	T	9: 99,415,230 (GRCm39)	I150K	probably damaging	Het
Bahcc1	T	C	11: 120,164,251 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,960,937 (GRCm39)		probably null	Het
Carmil3	C	A	14: 55,739,698 (GRCm39)	D928E	possibly damaging	Het
Ccrl2	T	C	9: 110,885,279 (GRCm39)	N73S	probably damaging	Het
Cdk9	C	A	2: 32,602,698 (GRCm39)		probably benign	Het
Cel	G	T	2: 28,451,160 (GRCm39)	Q66K	probably benign	Het
D930028M14Rik	T	A	7: 24,854,991 (GRCm39)		noncoding transcript	Het
Dgka	G	C	10: 128,556,952 (GRCm39)		probably benign	Het
Dlg1	T	C	16: 31,676,854 (GRCm39)	V801A	probably damaging	Het
Dnah10	A	G	5: 124,900,416 (GRCm39)	D3834G	probably benign	Het
Dnajc15	C	T	14: 78,112,273 (GRCm39)	A23T	possibly damaging	Het
Ell2	T	A	13: 75,910,007 (GRCm39)	L119Q	probably damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
F10	T	C	8: 13,103,413 (GRCm39)	F266L	possibly damaging	Het
Fam110a	T	C	2: 151,812,587 (GRCm39)	N61S	probably benign	Het
Fam83c	C	T	2: 155,671,620 (GRCm39)	S605N	probably benign	Het
Fbxw15	C	T	9: 109,394,453 (GRCm39)	V121I	probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gimap5	C	G	6: 48,727,449 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,385,699 (GRCm39)		probably null	Het
Gsn	T	C	2: 35,180,408 (GRCm39)	F188L	probably benign	Het
Hivep3	T	A	4: 119,952,788 (GRCm39)	I368N	possibly damaging	Het
Itih3	T	A	14: 30,634,063 (GRCm39)	I153F	probably damaging	Het
Kdm8	A	T	7: 125,060,178 (GRCm39)	Q360L	probably damaging	Het
Lars1	T	C	18: 42,335,697 (GRCm39)	K1140E	probably damaging	Het
Mocs1	A	G	17: 49,740,286 (GRCm39)	Y71C	probably damaging	Het
Mroh5	C	T	15: 73,661,892 (GRCm39)	G433E	probably damaging	Het
Mrpl45	T	A	11: 97,217,764 (GRCm39)		probably benign	Het
Mtcl1	T	A	17: 66,686,426 (GRCm39)	T827S	probably damaging	Het
Muc5b	T	C	7: 141,415,972 (GRCm39)	S2973P	probably benign	Het
Mynn	T	C	3: 30,661,706 (GRCm39)	S263P	probably benign	Het
Myo1f	A	C	17: 33,811,986 (GRCm39)	D595A	probably benign	Het
Necab1	A	T	4: 14,960,083 (GRCm39)	I288N	probably damaging	Het
Nutm2	T	G	13: 50,626,991 (GRCm39)	M382R	probably damaging	Het
Oprm1	T	C	10: 6,779,183 (GRCm39)	S131P	probably damaging	Het
Pcsk9	A	G	4: 106,301,891 (GRCm39)	S619P	probably benign	Het
Phkg1	A	T	5: 129,898,365 (GRCm39)	M1K	probably null	Het
Pigc	C	T	1: 161,798,668 (GRCm39)	Q217*	probably null	Het
Pik3r4	T	A	9: 105,525,906 (GRCm39)	F259I	probably damaging	Het
Pkdcc	A	T	17: 83,529,541 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prtg	A	T	9: 72,755,307 (GRCm39)	I259F	possibly damaging	Het
Prune2	T	G	19: 17,098,291 (GRCm39)	L1265R	possibly damaging	Het
Prune2	C	T	19: 17,099,818 (GRCm39)	A1774V	probably benign	Het
Rcn3	A	G	7: 44,738,139 (GRCm39)		probably benign	Het
Rnf213	C	T	11: 119,328,931 (GRCm39)	Q2067*	probably null	Het
Sec14l1	T	A	11: 117,041,568 (GRCm39)		probably benign	Het
Serpinb3a	C	T	1: 106,975,212 (GRCm39)	W198*	probably null	Het
Smpdl3b	A	T	4: 132,468,755 (GRCm39)	V154E	probably damaging	Het
Spag17	T	C	3: 100,008,719 (GRCm39)	S1950P	probably damaging	Het
Sprr1a	T	C	3: 92,391,609 (GRCm39)	T131A	probably benign	Het
Tatdn2	T	G	6: 113,686,462 (GRCm39)	L690W	probably damaging	Het
Tbc1d1	T	C	5: 64,496,937 (GRCm39)	F864L	probably damaging	Het
Tmem8b	C	A	4: 43,674,444 (GRCm39)	R243S	probably damaging	Het
Tnfrsf11a	T	A	1: 105,772,583 (GRCm39)	C623*	probably null	Het
Tprg1l	T	C	4: 154,243,812 (GRCm39)	N115D	probably damaging	Het
Ube2t	C	T	1: 134,895,538 (GRCm39)	A4V	possibly damaging	Het
Vps41	G	A	13: 19,026,465 (GRCm39)		probably benign	Het
Wdr17	C	T	8: 55,149,303 (GRCm39)		probably null	Het
Wwc1	G	A	11: 35,732,637 (GRCm39)	Q1024*	probably null	Het
Zfand5	T	A	19: 21,253,879 (GRCm39)	N27K	probably damaging	Het
Zfp142	A	T	1: 74,608,873 (GRCm39)	C1641S	probably damaging	Het
Zfyve16	A	G	13: 92,629,042 (GRCm39)	I1465T	probably damaging	Het
Zswim1	G	A	2: 164,667,947 (GRCm39)	G400S	probably benign	Het
Zswim3	C	T	2: 164,662,279 (GRCm39)	A253V	possibly damaging	Het

Other mutations in Gfi1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Gfi1b	APN	2	28,504,797 (GRCm39)	nonsense	probably null
IGL01595:Gfi1b	APN	2	28,501,429 (GRCm39)	critical splice donor site	probably null
R0196:Gfi1b	UTSW	2	28,503,786 (GRCm39)	missense	probably damaging	1.00
R1078:Gfi1b	UTSW	2	28,503,877 (GRCm39)	missense	probably damaging	1.00
R1935:Gfi1b	UTSW	2	28,500,125 (GRCm39)	missense	possibly damaging	0.78
R1936:Gfi1b	UTSW	2	28,500,125 (GRCm39)	missense	possibly damaging	0.78
R2311:Gfi1b	UTSW	2	28,500,186 (GRCm39)	missense	probably damaging	1.00
R4646:Gfi1b	UTSW	2	28,500,149 (GRCm39)	missense	probably damaging	0.99
R4911:Gfi1b	UTSW	2	28,500,114 (GRCm39)	missense	probably damaging	1.00
R6031:Gfi1b	UTSW	2	28,503,820 (GRCm39)	nonsense	probably null
R6031:Gfi1b	UTSW	2	28,503,820 (GRCm39)	nonsense	probably null
R8029:Gfi1b	UTSW	2	28,503,687 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGTGTCCATGCCTGGAGAGTAGC -3'
(R):5'- TACTGGAACCCTCAACAGGAGGTC -3'

Sequencing Primer
(F):5'- TAGCGGAGGCGGAAGTC -3'
(R):5'- gaaaggaagggaagggaagg -3'

Posted On

2013-05-09