Mutagenetix > Incidental Mutation

Incidental Mutation 'R6586:Fiz1'

524399

Institutional Source

Beutler Lab

Gene Symbol

Fiz1

Ensembl Gene

ENSMUSG00000061374

Gene Name

Flt3 interacting zinc finger protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R6586 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

5007059-5014697 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5008401 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 373 (A373T)

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: A373T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374
AA Change: A373T

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: A373T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374
AA Change: A373T

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: A373T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374
AA Change: A373T

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: A373T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

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: A373T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000209060

Meta Mutation Damage Score

0.1274

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (40/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	C	4: 137,455,328	F265L	possibly damaging	Het
9930022D16Rik	A	G	11: 109,417,960	T51A	unknown	Het
Acaa1a	A	G	9: 119,349,538		probably null	Het
Clasp2	T	C	9: 113,813,264	S280P	probably damaging	Het
Cnga3	T	C	1: 37,261,278	S398P	probably damaging	Het
Cngb3	T	G	4: 19,280,946	L5R	probably damaging	Het
Cyp2c65	T	C	19: 39,082,218	F282L	possibly damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Homo
Dnm2	T	C	9: 21,505,646	F825S	probably benign	Het
Dusp27	T	C	1: 166,100,885	E386G	possibly damaging	Het
Egfem1	T	A	3: 29,662,411	C343*	probably null	Het
Fah	T	A	7: 84,593,260	D280V	probably benign	Het
Flg	A	T	3: 93,292,983		probably benign	Het
Flnb	A	G	14: 7,929,138	R1956G	possibly damaging	Het
Mterf2	A	G	10: 85,120,106	F218S	probably damaging	Het
Nlrp1a	A	G	11: 71,106,073	V868A	probably benign	Het
Nrip2	T	A	6: 128,404,948	C85*	probably null	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr107	G	A	17: 37,405,905	R119H	probably benign	Het
Olfr620	T	A	7: 103,611,976	I126F	possibly damaging	Het
Palm	A	C	10: 79,809,531	N111H	probably benign	Het
Pipox	T	C	11: 77,881,179	D373G	possibly damaging	Het
Plec	C	T	15: 76,175,087	G3540D	probably damaging	Het
Psd3	T	C	8: 67,963,545	T567A	probably damaging	Het
Psg28	T	C	7: 18,430,544	Y81C	probably damaging	Het
Rarres1	A	T	3: 67,491,033	N131K	probably damaging	Het
Rbbp8nl	G	A	2: 180,280,959	H214Y	probably damaging	Het
Tas2r135	A	G	6: 42,406,018	T164A	probably benign	Het
Tmco3	G	T	8: 13,320,894		probably benign	Het
Tnpo2	T	A	8: 85,045,202	M259K	possibly damaging	Het
Tns4	T	C	11: 99,080,267	R206G	probably benign	Het
Trim60	G	T	8: 65,000,596	L334I	possibly damaging	Het
Ttn	T	C	2: 76,730,410	T29216A	probably damaging	Het
Urb2	G	T	8: 124,031,125	E1190D	probably damaging	Het
Vmn1r60	T	A	7: 5,544,447	N218I	probably benign	Het
Vps25	T	G	11: 101,259,009	V125G	probably damaging	Het
Ythdc2	A	G	18: 44,845,788	D455G	probably benign	Het
Ythdf2	A	T	4: 132,205,600	M83K	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
R3616: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
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'- ACGGAACAGCTTCTCACATTC -3'
(R):5'- AAGCTCACTCATGACCTGC -3'

Sequencing Primer
(F):5'- TCGGAACAGCCAAAGATCTTCTTG -3'
(R):5'- ACCTCCAACGCAGGTTTG -3'

Posted On

2018-06-22