Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Fiz1'

268397

Institutional Source

Beutler Lab

Gene Symbol

Fiz1

Ensembl Gene

ENSMUSG00000061374

Gene Name

Flt3 interacting zinc finger protein 1

Synonyms

MMRRC Submission

040673-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5007059-5014697 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5008172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 449 (L449P)

Ref Sequence

ENSEMBL: ENSMUSP00000147011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077385] [ENSMUST00000165320] [ENSMUST00000167804] [ENSMUST00000207030] [ENSMUST00000207412] [ENSMUST00000207946] [ENSMUST00000208944] [ENSMUST00000209060]

AlphaFold

Q9WTJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000077385
AA Change: L449P

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374
AA Change: L449P

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
ZnF_C2H2	29	51	5.99e-4	SMART
ZnF_C2H2	57	79	6.32e-3	SMART
ZnF_C2H2	85	107	1.36e-2	SMART
ZnF_C2H2	113	136	4.72e-2	SMART
low complexity region	140	177	N/A	INTRINSIC
ZnF_C2H2	204	226	1.02e1	SMART
ZnF_C2H2	232	254	9.44e-2	SMART
low complexity region	322	332	N/A	INTRINSIC
ZnF_C2H2	336	357	2.12e1	SMART
ZnF_C2H2	363	386	2.45e0	SMART
low complexity region	404	414	N/A	INTRINSIC
ZnF_C2H2	418	440	8.94e-3	SMART
ZnF_C2H2	446	468	4.05e-1	SMART
ZnF_C2H2	474	496	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165320
AA Change: L449P

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374
AA Change: L449P

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
ZnF_C2H2	29	51	5.99e-4	SMART
ZnF_C2H2	57	79	6.32e-3	SMART
ZnF_C2H2	85	107	1.36e-2	SMART
ZnF_C2H2	113	136	4.72e-2	SMART
low complexity region	140	177	N/A	INTRINSIC
ZnF_C2H2	204	226	1.02e1	SMART
ZnF_C2H2	232	254	9.44e-2	SMART
low complexity region	322	332	N/A	INTRINSIC
ZnF_C2H2	336	357	2.12e1	SMART
ZnF_C2H2	363	386	2.45e0	SMART
low complexity region	404	414	N/A	INTRINSIC
ZnF_C2H2	418	440	8.94e-3	SMART
ZnF_C2H2	446	468	4.05e-1	SMART
ZnF_C2H2	474	496	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167804
AA Change: L449P

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374
AA Change: L449P

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
ZnF_C2H2	29	51	5.99e-4	SMART
ZnF_C2H2	57	79	6.32e-3	SMART
ZnF_C2H2	85	107	1.36e-2	SMART
ZnF_C2H2	113	136	4.72e-2	SMART
low complexity region	140	177	N/A	INTRINSIC
ZnF_C2H2	204	226	1.02e1	SMART
ZnF_C2H2	232	254	9.44e-2	SMART
low complexity region	322	332	N/A	INTRINSIC
ZnF_C2H2	336	357	2.12e1	SMART
ZnF_C2H2	363	386	2.45e0	SMART
low complexity region	404	414	N/A	INTRINSIC
ZnF_C2H2	418	440	8.94e-3	SMART
ZnF_C2H2	446	468	4.05e-1	SMART
ZnF_C2H2	474	496	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207030
AA Change: L449P

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000207412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207691

Predicted Effect

probably benign
Transcript: ENSMUST00000207946

Predicted Effect

probably benign
Transcript: ENSMUST00000208944
AA Change: L449P

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000209060

Meta Mutation Damage Score

0.0955

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	G	4: 42,971,864	N399S	probably benign	Het
A2ml1	T	C	6: 128,558,294	T818A	probably benign	Het
Aasdh	A	G	5: 76,888,782	V304A	probably benign	Het
Angptl3	G	A	4: 99,034,465	A248T	probably benign	Het
Ap2b1	T	A	11: 83,324,565	C112S	possibly damaging	Het
Aqr	A	T	2: 114,136,887	I549N	probably damaging	Het
Barhl1	C	T	2: 28,911,550	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942	V821A	probably damaging	Het
Dclk2	G	A	3: 86,920,035	P46S	probably damaging	Het
Dnah1	A	G	14: 31,315,148	L247P	possibly damaging	Het
Dpysl2	T	A	14: 66,834,370	H107L	probably damaging	Het
Dzip3	A	G	16: 48,937,063	L869S	probably damaging	Het
Efs	T	C	14: 54,920,095	Y160C	probably damaging	Het
Enam	A	T	5: 88,504,447	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam184b	A	G	5: 45,582,815	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,743,760	Y105*	probably null	Het
Foxi2	T	A	7: 135,410,451	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,944,957	R212Q	probably damaging	Het
Gm5105	C	A	3: 138,049,688	A46S	unknown	Het
Gm597	T	C	1: 28,776,575	D792G	probably benign	Het
Grik5	C	T	7: 25,022,571	A581T	probably benign	Het
Gse1	C	G	8: 120,572,742		probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Kif1b	A	T	4: 149,262,283		probably benign	Het
Krt25	A	C	11: 99,317,298	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,033,287	V269A	probably benign	Het
Lamc1	T	C	1: 153,251,150	K417E	probably damaging	Het
Miip	A	G	4: 147,865,914	M75T	probably benign	Het
Nlrp10	A	G	7: 108,924,476	F599S	probably benign	Het
Nlrp12	T	A	7: 3,240,575	M436L	probably benign	Het
Olfr142	T	C	2: 90,252,409	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,690,232	S57F	probably damaging	Het
Pard6b	T	C	2: 168,087,339		probably benign	Het
Pla2g2e	G	A	4: 138,880,374	V22I	probably benign	Het
Plekhd1	A	G	12: 80,717,270	E202G	probably damaging	Het
Prss21	A	G	17: 23,872,831	T258A	probably benign	Het
Prss34	A	G	17: 25,298,846	E65G	probably benign	Het
Psap	A	G	10: 60,294,603	N149S	probably benign	Het
Ptprf	C	T	4: 118,237,883	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520	L12P	probably damaging	Het
Sf3b3	A	G	8: 110,844,523	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,137,705	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,653,570	L397Q	probably damaging	Het
Smg5	A	G	3: 88,336,451	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Tas2r102	C	T	6: 132,762,818	Q230*	probably null	Het
Tdo2	A	G	3: 81,975,428	Y13H	possibly damaging	Het
Tmem231	C	T	8: 111,918,313	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,545,579	M254T	probably damaging	Het
Trpm1	G	A	7: 64,243,570	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,164,838	K347N	probably damaging	Het
Usp36	C	T	11: 118,276,759		probably null	Het
Vash2	T	C	1: 190,970,419	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,489,866	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,793,939	T420A	probably benign	Het

Other mutations in Fiz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02606:Fiz1	APN	7	5009159	missense	possibly damaging	0.96
R0282:Fiz1	UTSW	7	5009201	missense	probably benign	0.33
R0548:Fiz1	UTSW	7	5009168	missense	possibly damaging	0.86
R1693:Fiz1	UTSW	7	5008728	missense	probably benign
R2054:Fiz1	UTSW	7	5008236	missense	probably damaging	1.00
R2151:Fiz1	UTSW	7	5012881	missense	possibly damaging	0.60
R2204:Fiz1	UTSW	7	5008686	missense	probably benign	0.01
R3427:Fiz1	UTSW	7	5012709	missense	probably damaging	1.00
R3615:Fiz1	UTSW	7	5008172	missense	probably benign	0.36
R4690:Fiz1	UTSW	7	5009168	missense	probably benign	0.33
R5554:Fiz1	UTSW	7	5012850	missense	probably damaging	1.00
R6340:Fiz1	UTSW	7	5008401	missense	possibly damaging	0.94
R6343:Fiz1	UTSW	7	5008401	missense	possibly damaging	0.94
R6586:Fiz1	UTSW	7	5008401	missense	possibly damaging	0.94
R6587:Fiz1	UTSW	7	5008401	missense	possibly damaging	0.94
R7999:Fiz1	UTSW	7	5008998	missense	probably benign	0.00
R8348:Fiz1	UTSW	7	5012910	missense	probably benign	0.33
R8531:Fiz1	UTSW	7	5009164	nonsense	probably null
R8875:Fiz1	UTSW	7	5009094	missense	probably benign	0.00
R9154:Fiz1	UTSW	7	5008281	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCTGGTTATTCAGTCCATG -3'
(R):5'- CAGCCATTTAGAGGCTCACTC -3'

Sequencing Primer
(F):5'- ATGCCCCTGTGTAGCTTCAGATG -3'
(R):5'- CGTGCAAGCCATGGTGAG -3'

Posted On

2015-02-19