Mutagenetix > Incidental Mutation

Incidental Mutation 'R5554:Fiz1'

435284

Institutional Source

Beutler Lab

Gene Symbol

Fiz1

Ensembl Gene

ENSMUSG00000061374

Gene Name

Flt3 interacting zinc finger protein 1

Synonyms

MMRRC Submission

043111-MU

Accession Numbers

Essential gene?

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

Stock #

R5554 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5007059-5014697 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5012850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 47 (H47R)

Ref Sequence

ENSEMBL: ENSMUSP00000146713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077385] [ENSMUST00000086349] [ENSMUST00000165320] [ENSMUST00000167804] [ENSMUST00000207030] [ENSMUST00000207050] [ENSMUST00000207412] [ENSMUST00000207901] [ENSMUST00000207946] [ENSMUST00000208944] [ENSMUST00000209030] [ENSMUST00000209060]

AlphaFold

Q9WTJ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000077385
AA Change: H47R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076603
Gene: ENSMUSG00000061374
AA Change: H47R

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: ENSMUST00000086349

SMART Domains

Protein: ENSMUSP00000083533
Gene: ENSMUSG00000051184

Domain	Start	End	E-Value	Type
AT_hook	29	41	1.53e2	SMART
AT_hook	51	63	1.09e0	SMART
ZnF_C2H2	109	131	1.16e-1	SMART
ZnF_C2H2	137	159	1.56e-2	SMART
ZnF_C2H2	165	187	4.4e-2	SMART
ZnF_C2H2	193	216	7.26e-3	SMART
low complexity region	272	287	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165320
AA Change: H47R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128105
Gene: ENSMUSG00000061374
AA Change: H47R

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 damaging
Transcript: ENSMUST00000167804
AA Change: H47R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126765
Gene: ENSMUSG00000061374
AA Change: H47R

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 damaging
Transcript: ENSMUST00000207030
AA Change: H47R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000207050

Predicted Effect

probably benign
Transcript: ENSMUST00000207412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207691

Predicted Effect

probably benign
Transcript: ENSMUST00000207901

Predicted Effect

probably damaging
Transcript: ENSMUST00000207946
AA Change: H47R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208944
AA Change: H47R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000209030

Predicted Effect

probably damaging
Transcript: ENSMUST00000209060
AA Change: H47R

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

Meta Mutation Damage Score

0.9003

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (73/75)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	C	A	11: 101,413,981	R227L	probably benign	Het
Adamtsl1	A	G	4: 86,276,945	Q533R	possibly damaging	Het
Adgb	C	T	10: 10,340,473	R1524H	probably damaging	Het
Ank2	A	T	3: 126,998,973	N739K	possibly damaging	Het
Ankrd39	C	T	1: 36,541,981	G96R	probably damaging	Het
Anxa10	G	A	8: 62,061,046	P249L	possibly damaging	Het
Banp	G	A	8: 121,991,595	E183K	probably damaging	Het
BC051665	C	G	13: 60,784,621	L83F	probably damaging	Het
Btn1a1	A	T	13: 23,459,125	F385I	possibly damaging	Het
Chchd4	A	T	6: 91,465,017	*140R	probably null	Het
Dcpp2	T	C	17: 23,900,571	Y120H	probably damaging	Het
Dlx2	G	A	2: 71,545,461	R173C	possibly damaging	Het
Dmbt1	C	A	7: 131,099,300	Y1069*	probably null	Het
Dopey1	T	A	9: 86,521,657	F1637I	probably damaging	Het
Dusp18	T	C	11: 3,897,202	I64T	probably damaging	Het
Evi5l	A	G	8: 4,206,491		probably benign	Het
Fam212b	T	A	3: 105,716,614	S82R	possibly damaging	Het
Fndc3b	G	T	3: 27,643,013	P17T	possibly damaging	Het
Foxa1	T	A	12: 57,542,291	Q381L	probably benign	Het
Gda	A	G	19: 21,428,473		probably null	Het
Gm10044	T	C	14: 7,771,181		noncoding transcript	Het
Gm12258	T	A	11: 58,858,468	S156R	possibly damaging	Het
Gm973	A	G	1: 59,526,972	R117G	probably benign	Het
Grwd1	C	T	7: 45,830,640	V48I	probably damaging	Het
Ifi209	T	A	1: 173,641,197	S198T	probably benign	Het
Itga1	A	T	13: 114,992,474	C549*	probably null	Het
Kmt2c	C	A	5: 25,294,610	G511C	probably damaging	Het
Knstrn	T	C	2: 118,833,963		probably benign	Het
Lrp2	T	C	2: 69,552,424	Y39C	possibly damaging	Het
Minos1	T	C	4: 139,105,907		probably benign	Het
N4bp2	T	C	5: 65,808,114	Y1169H	probably benign	Het
Nbr1	C	T	11: 101,564,807	T129I	probably benign	Het
Olfr178	A	T	16: 58,889,806	M138K	possibly damaging	Het
Olfr671	A	C	7: 104,975,982	M1R	probably null	Het
Olfr843	T	C	9: 19,248,743	I219V	probably benign	Het
Oxct1	T	A	15: 4,091,195	F254I	probably benign	Het
Patj	T	A	4: 98,454,396	S576T	possibly damaging	Het
Pdxdc1	A	T	16: 13,872,499	C202S	probably benign	Het
Pet100	A	T	8: 3,622,381	I19F	probably damaging	Het
Pik3r5	T	C	11: 68,494,233	Y655H	probably damaging	Het
Pkhd1	A	G	1: 20,081,252	S3807P	probably damaging	Het
Ptma	A	G	1: 86,526,927	T8A	probably damaging	Het
Ptpn3	G	T	4: 57,240,843	N257K	probably damaging	Het
R3hdm1	C	A	1: 128,236,672	Q1108K	probably benign	Het
Rimbp2	T	C	5: 128,780,342	D815G	probably damaging	Het
Scn10a	A	G	9: 119,694,130	F66L	probably benign	Het
Selenot	T	C	3: 58,576,875		probably null	Het
Serpinb8	A	G	1: 107,598,975	T82A	probably benign	Het
Serpini2	G	A	3: 75,267,988		probably benign	Het
Slc1a6	G	T	10: 78,795,982	G214V	probably benign	Het
Slc5a6	C	A	5: 31,038,100	A425S	probably damaging	Het
Smo	C	A	6: 29,736,124	N38K	possibly damaging	Het
Smtn	A	T	11: 3,520,811	C909*	probably null	Het
Sntg2	C	T	12: 30,258,041	R215H	probably benign	Het
Stk4	T	A	2: 164,099,725	V287E	probably benign	Het
Tdrd7	A	G	4: 46,005,358	D388G	possibly damaging	Het
Tmem57	T	C	4: 134,828,134	I343V	probably benign	Het
Ttn	A	T	2: 76,812,308	F13294L	probably damaging	Het
Ube2j1	T	G	4: 33,040,745	F84V	probably damaging	Het
Ugt3a2	A	G	15: 9,370,201	Q477R	probably damaging	Het
Utf1	T	C	7: 139,943,946	S25P	probably benign	Het
Vmn1r184	A	T	7: 26,266,988	H53L	probably damaging	Het
Vmn2r13	A	T	5: 109,191,994	N38K	possibly damaging	Het
Vps13a	C	T	19: 16,722,411	D756N	probably damaging	Het
Vwa1	G	T	4: 155,773,238	D34E	probably damaging	Het
Zfhx2	A	C	14: 55,064,317	L2070R	probably damaging	Het
Zfp984	A	G	4: 147,755,905	V163A	probably benign	Het
Zp3r	A	T	1: 130,583,471	M325K	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
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'- TTCCCTGAGTGGAATGGAGTC -3'
(R):5'- TTTGTACTCCAGAGAAAGCCCC -3'

Sequencing Primer
(F):5'- CAGTGTCTGAGCCACATGTG -3'
(R):5'- CAAGCCACCTCCGGACCTTC -3'

Posted On

2016-10-24