Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01304:Zfp316'

73357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp316

Ensembl Gene

ENSMUSG00000046658

Gene Name

zinc finger protein 316

Synonyms

Emzf1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

IGL01304

Quality Score

Status

Chromosome

Chromosomal Location

143235452-143255777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143240181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 613 (F613L)

Ref Sequence

ENSEMBL: ENSMUSP00000125416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051665] [ENSMUST00000161448]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051665
AA Change: F613L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000059418
Gene: ENSMUSG00000046658
AA Change: F613L

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161448
AA Change: F613L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000125416
Gene: ENSMUSG00000046658
AA Change: F613L

Domain	Start	End	E-Value	Type
low complexity region	30	68	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
KRAB	155	215	4.31e-37	SMART
low complexity region	239	262	N/A	INTRINSIC
ZnF_C2H2	341	363	1.58e-3	SMART
ZnF_C2H2	369	391	1.45e-2	SMART
ZnF_C2H2	397	419	6.88e-4	SMART
ZnF_C2H2	425	447	3.63e-3	SMART
ZnF_C2H2	453	475	1.2e-3	SMART
ZnF_C2H2	481	501	2.17e1	SMART
low complexity region	524	558	N/A	INTRINSIC
low complexity region	568	584	N/A	INTRINSIC
low complexity region	649	664	N/A	INTRINSIC
low complexity region	691	707	N/A	INTRINSIC
ZnF_C2H2	708	730	1.2e-3	SMART
ZnF_C2H2	736	758	3.58e-2	SMART
ZnF_C2H2	764	786	1.45e-2	SMART
ZnF_C2H2	792	814	1.99e0	SMART
ZnF_C2H2	820	842	2.82e0	SMART
ZnF_C2H2	848	870	7.9e-4	SMART
ZnF_C2H2	876	898	1.45e-2	SMART
ZnF_C2H2	904	926	9.88e-5	SMART
ZnF_C2H2	932	954	2.09e-3	SMART
low complexity region	964	990	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197349

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,204,153 (GRCm39)	D79E	probably benign	Het
Aplf	A	C	6: 87,618,882 (GRCm39)	S421A	possibly damaging	Het
Arnt	T	G	3: 95,355,696 (GRCm39)	D13E	probably damaging	Het
Asap1	T	C	15: 64,184,298 (GRCm39)	E45G	probably damaging	Het
C2cd2l	T	C	9: 44,230,884 (GRCm39)	N101S	probably damaging	Het
Cby2	T	A	14: 75,830,085 (GRCm39)	D36V	possibly damaging	Het
Chmp7	G	A	14: 69,956,062 (GRCm39)	P402L	probably benign	Het
Cir1	A	T	2: 73,118,068 (GRCm39)		probably null	Het
Clock	A	G	5: 76,414,202 (GRCm39)		probably null	Het
Col18a1	T	G	10: 76,911,975 (GRCm39)		probably benign	Het
Csf2ra	G	A	19: 61,215,271 (GRCm39)	H115Y	possibly damaging	Het
Cspg5	T	A	9: 110,085,236 (GRCm39)	L469H	probably damaging	Het
Dapk2	T	C	9: 66,139,139 (GRCm39)		probably benign	Het
F13a1	T	C	13: 37,172,852 (GRCm39)	D176G	probably benign	Het
Fbn2	T	C	18: 58,194,817 (GRCm39)	E1448G	probably damaging	Het
Gtf2b	C	T	3: 142,487,359 (GRCm39)	S265L	probably benign	Het
Hmcn1	C	T	1: 150,498,675 (GRCm39)	G4068D	probably damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Ksr1	T	C	11: 78,918,468 (GRCm39)	Q562R	probably damaging	Het
Lrif1	C	T	3: 106,639,049 (GRCm39)	P20S	probably damaging	Het
Mamdc4	T	C	2: 25,453,588 (GRCm39)	T1194A	possibly damaging	Het
Med18	C	A	4: 132,186,930 (GRCm39)	A190S	probably damaging	Het
Mia2	G	A	12: 59,151,324 (GRCm39)	E105K	probably damaging	Het
Mnt	T	A	11: 74,733,011 (GRCm39)	Y48N	probably damaging	Het
Mpp4	A	C	1: 59,188,678 (GRCm39)		probably null	Het
Or4b1b	G	A	2: 90,112,425 (GRCm39)	P165S	possibly damaging	Het
Popdc3	T	G	10: 45,194,005 (GRCm39)	S269A	probably benign	Het
Ppp6r3	A	T	19: 3,517,261 (GRCm39)	M662K	probably damaging	Het
Qser1	C	A	2: 104,617,976 (GRCm39)	Q945H	probably damaging	Het
Rad52	A	G	6: 119,895,594 (GRCm39)	E198G	probably damaging	Het
Ranbp17	A	G	11: 33,216,147 (GRCm39)	V867A	possibly damaging	Het
Rdh16	G	T	10: 127,649,365 (GRCm39)	A274S	probably benign	Het
Slco1a5	G	T	6: 142,187,876 (GRCm39)	Q488K	probably benign	Het
Snai2	T	C	16: 14,524,635 (GRCm39)	I47T	probably benign	Het
Snw1	T	C	12: 87,500,685 (GRCm39)	D358G	possibly damaging	Het
Speg	T	C	1: 75,404,841 (GRCm39)	F2878L	probably benign	Het
Spg11	T	C	2: 121,902,771 (GRCm39)	Y1386C	probably damaging	Het
Tgfb2	A	C	1: 186,357,670 (GRCm39)	I435S	probably damaging	Het
Ttc9b	G	A	7: 27,355,410 (GRCm39)	D227N	probably benign	Het
Txndc2	T	C	17: 65,945,448 (GRCm39)	E243G	possibly damaging	Het
Usp28	A	G	9: 48,938,119 (GRCm39)	D563G	probably damaging	Het
Vmn1r77	T	C	7: 11,775,962 (GRCm39)	V178A	probably damaging	Het
Zfp870	A	T	17: 33,101,980 (GRCm39)	C450S	possibly damaging	Het

Other mutations in Zfp316

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01783:Zfp316	APN	5	143,248,631 (GRCm39)	missense	unknown
R0415:Zfp316	UTSW	5	143,250,246 (GRCm39)	missense	unknown
R0423:Zfp316	UTSW	5	143,238,993 (GRCm39)	missense	probably damaging	0.98
R1576:Zfp316	UTSW	5	143,249,849 (GRCm39)	missense	unknown
R1579:Zfp316	UTSW	5	143,239,317 (GRCm39)	missense	probably damaging	0.97
R1836:Zfp316	UTSW	5	143,239,178 (GRCm39)	missense	probably damaging	1.00
R2058:Zfp316	UTSW	5	143,249,161 (GRCm39)	missense	unknown
R4004:Zfp316	UTSW	5	143,240,874 (GRCm39)	missense	possibly damaging	0.86
R4198:Zfp316	UTSW	5	143,240,226 (GRCm39)	missense	probably benign	0.05
R4436:Zfp316	UTSW	5	143,239,803 (GRCm39)	missense	probably damaging	1.00
R4961:Zfp316	UTSW	5	143,239,169 (GRCm39)	missense	probably damaging	0.98
R5579:Zfp316	UTSW	5	143,250,246 (GRCm39)	missense	unknown
R5642:Zfp316	UTSW	5	143,249,846 (GRCm39)	missense	unknown
R5701:Zfp316	UTSW	5	143,240,132 (GRCm39)	missense	probably benign	0.08
R5795:Zfp316	UTSW	5	143,248,594 (GRCm39)	missense	unknown
R5861:Zfp316	UTSW	5	143,249,095 (GRCm39)	missense	unknown
R5965:Zfp316	UTSW	5	143,250,427 (GRCm39)	splice site	probably null
R6414:Zfp316	UTSW	5	143,240,639 (GRCm39)	missense	possibly damaging	0.71
R6547:Zfp316	UTSW	5	143,239,952 (GRCm39)	missense	probably damaging	1.00
R6922:Zfp316	UTSW	5	143,239,280 (GRCm39)	missense	probably damaging	0.98
R7002:Zfp316	UTSW	5	143,249,110 (GRCm39)	missense	unknown
R7361:Zfp316	UTSW	5	143,240,430 (GRCm39)	missense	probably benign	0.01
R7414:Zfp316	UTSW	5	143,250,407 (GRCm39)	missense	unknown
R7693:Zfp316	UTSW	5	143,249,167 (GRCm39)	missense	unknown
R8749:Zfp316	UTSW	5	143,248,565 (GRCm39)	missense	unknown
R9368:Zfp316	UTSW	5	143,250,046 (GRCm39)	critical splice donor site	probably null
R9471:Zfp316	UTSW	5	143,241,161 (GRCm39)	missense	unknown
R9670:Zfp316	UTSW	5	143,240,348 (GRCm39)	missense	possibly damaging	0.86
X0022:Zfp316	UTSW	5	143,240,811 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp316	UTSW	5	143,239,313 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-10-07