Mutagenetix > Incidental Mutation

Incidental Mutation 'R0548:Fiz1'

44969

Institutional Source

Beutler Lab

Gene Symbol

Fiz1

Ensembl Gene

ENSMUSG00000061374

Gene Name

Flt3 interacting zinc finger protein 1

Synonyms

MMRRC Submission

038740-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0548 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

5010058-5017696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5012167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 117 (V117D)

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

possibly damaging
Transcript: ENSMUST00000077385
AA Change: V117D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374
AA Change: V117D

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

possibly damaging
Transcript: ENSMUST00000165320
AA Change: V117D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374
AA Change: V117D

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

possibly damaging
Transcript: ENSMUST00000167804
AA Change: V117D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374
AA Change: V117D

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

possibly damaging
Transcript: ENSMUST00000207030
AA Change: V117D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207691

Predicted Effect

probably benign
Transcript: ENSMUST00000207946

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208944
AA Change: V117D

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209060

Meta Mutation Damage Score

0.1446

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	G	8: 41,279,504 (GRCm39)	C632G	probably damaging	Het
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Agfg1	A	G	1: 82,864,152 (GRCm39)	T447A	probably damaging	Het
Ankrd37	C	T	8: 46,451,433 (GRCm39)		probably null	Het
Apob	A	T	12: 8,056,282 (GRCm39)	D1555V	probably damaging	Het
Asxl3	T	A	18: 22,654,849 (GRCm39)		probably benign	Het
Brca2	C	A	5: 150,468,400 (GRCm39)	D2242E	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdk5rap2	A	T	4: 70,267,379 (GRCm39)		probably null	Het
Cox10	A	T	11: 63,867,178 (GRCm39)	Y273N	probably damaging	Het
Dcbld2	A	T	16: 58,275,508 (GRCm39)	D408V	probably damaging	Het
Enam	A	T	5: 88,650,964 (GRCm39)	E824D	probably damaging	Het
Epm2aip1	T	C	9: 111,102,409 (GRCm39)	Y461H	probably damaging	Het
Fam72a	T	A	1: 131,461,599 (GRCm39)	S95T	probably damaging	Het
Gm10355	C	T	3: 101,214,376 (GRCm39)		noncoding transcript	Het
Gm11595	A	T	11: 99,662,967 (GRCm39)	C238S	unknown	Het
Gm7589	T	G	9: 59,053,439 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,073 (GRCm39)	V771E	probably damaging	Het
Htt	T	C	5: 35,028,090 (GRCm39)	L1782P	probably damaging	Het
Il33	T	C	19: 29,932,047 (GRCm39)	S147P	probably benign	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Lrp2	G	A	2: 69,367,982 (GRCm39)		probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Map1b	T	C	13: 99,568,191 (GRCm39)	K1510R	unknown	Het
Marco	T	C	1: 120,419,767 (GRCm39)	T187A	probably benign	Het
Mki67	A	T	7: 135,298,637 (GRCm39)	N2132K	possibly damaging	Het
Mki67	T	A	7: 135,296,985 (GRCm39)	K2683M	probably damaging	Het
Mmp15	T	C	8: 96,098,979 (GRCm39)	V602A	probably damaging	Het
Mphosph10	T	A	7: 64,028,548 (GRCm39)	M536L	probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
N4bp2	G	T	5: 65,965,496 (GRCm39)	V1182L	probably benign	Het
Nlrc5	C	A	8: 95,248,411 (GRCm39)	F1715L	probably null	Het
Nsd2	T	A	5: 34,050,882 (GRCm39)	V1253E	probably damaging	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or2a52	T	A	6: 43,144,121 (GRCm39)	I43K	probably benign	Het
Or4c120	C	A	2: 89,000,992 (GRCm39)	C188F	probably damaging	Het
Or8g18	A	T	9: 39,149,667 (GRCm39)	S18T	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pi4ka	A	T	16: 17,125,582 (GRCm39)	N4K	possibly damaging	Het
Plxna4	A	T	6: 32,134,950 (GRCm39)	I1751N	probably damaging	Het
Postn	C	A	3: 54,274,997 (GRCm39)	S122*	probably null	Het
Ppp4r4	A	T	12: 103,579,074 (GRCm39)	R762*	probably null	Het
Rrm1	G	T	7: 102,116,274 (GRCm39)		probably null	Het
Rrp15	A	G	1: 186,468,431 (GRCm39)	V195A	probably benign	Het
Rtl1	T	A	12: 109,558,089 (GRCm39)	D1250V	probably damaging	Het
Rxrg	T	C	1: 167,458,788 (GRCm39)		probably benign	Het
Scn10a	T	C	9: 119,494,994 (GRCm39)	K416E	probably benign	Het
Serping1	T	C	2: 84,600,425 (GRCm39)		probably benign	Het
Slc12a6	T	C	2: 112,166,269 (GRCm39)		probably null	Het
Smo	A	T	6: 29,759,585 (GRCm39)	Q639L	possibly damaging	Het
Synrg	T	C	11: 83,873,014 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,649,971 (GRCm39)	D470G	probably damaging	Het
Tln1	T	C	4: 43,542,709 (GRCm39)	N1399S	possibly damaging	Het
Tmem131	A	G	1: 36,877,119 (GRCm39)	V240A	probably damaging	Het
Tmem232	G	A	17: 65,689,615 (GRCm39)	T500I	probably benign	Het
Toporsl	G	A	4: 52,612,140 (GRCm39)	V678M	possibly damaging	Het
Vmn1r7	A	T	6: 57,002,066 (GRCm39)	F65I	probably damaging	Het
Wdfy4	C	T	14: 32,764,578 (GRCm39)	M2257I	probably benign	Het
Wdr20rt	T	A	12: 65,274,089 (GRCm39)	D344E	probably benign	Het
Xirp2	C	T	2: 67,344,758 (GRCm39)	A2333V	probably benign	Het
Zfyve16	T	C	13: 92,631,452 (GRCm39)	K1381R	probably benign	Het
Zscan18	G	T	7: 12,508,103 (GRCm39)	P466T	probably damaging	Het

Other mutations in Fiz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02606:Fiz1	APN	7	5,012,158 (GRCm39)	missense	possibly damaging	0.96
R0282:Fiz1	UTSW	7	5,012,200 (GRCm39)	missense	probably benign	0.33
R1693:Fiz1	UTSW	7	5,011,727 (GRCm39)	missense	probably benign
R2054:Fiz1	UTSW	7	5,011,235 (GRCm39)	missense	probably damaging	1.00
R2151:Fiz1	UTSW	7	5,015,880 (GRCm39)	missense	possibly damaging	0.60
R2204:Fiz1	UTSW	7	5,011,685 (GRCm39)	missense	probably benign	0.01
R3427:Fiz1	UTSW	7	5,015,708 (GRCm39)	missense	probably damaging	1.00
R3615:Fiz1	UTSW	7	5,011,171 (GRCm39)	missense	probably benign	0.36
R3616:Fiz1	UTSW	7	5,011,171 (GRCm39)	missense	probably benign	0.36
R4690:Fiz1	UTSW	7	5,012,167 (GRCm39)	missense	probably benign	0.33
R5554:Fiz1	UTSW	7	5,015,849 (GRCm39)	missense	probably damaging	1.00
R6340:Fiz1	UTSW	7	5,011,400 (GRCm39)	missense	possibly damaging	0.94
R6343:Fiz1	UTSW	7	5,011,400 (GRCm39)	missense	possibly damaging	0.94
R6586:Fiz1	UTSW	7	5,011,400 (GRCm39)	missense	possibly damaging	0.94
R6587:Fiz1	UTSW	7	5,011,400 (GRCm39)	missense	possibly damaging	0.94
R7999:Fiz1	UTSW	7	5,011,997 (GRCm39)	missense	probably benign	0.00
R8348:Fiz1	UTSW	7	5,015,909 (GRCm39)	missense	probably benign	0.33
R8531:Fiz1	UTSW	7	5,012,163 (GRCm39)	nonsense	probably null
R8875:Fiz1	UTSW	7	5,012,093 (GRCm39)	missense	probably benign	0.00
R9154:Fiz1	UTSW	7	5,011,280 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCACTTGAATGGCTTCACATCG -3'
(R):5'- AGGAGGTAGGGTTCCTTCTCAATGG -3'

Sequencing Primer
(F):5'- CATGGTCAAAACGCCTGG -3'
(R):5'- TCAATGGCCCCCATGATG -3'

Posted On

2013-06-11