Mutagenetix > Incidental Mutation

Incidental Mutation 'R8487:Zfp446'

657787

Institutional Source

Beutler Lab

Gene Symbol

Zfp446

Ensembl Gene

ENSMUSG00000033961

Gene Name

zinc finger protein 446

Synonyms

A630035I11Rik

MMRRC Submission

067930-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R8487 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12711726-12718323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12716555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 334 (F334I)

Ref Sequence

ENSEMBL: ENSMUSP00000104177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045810] [ENSMUST00000108535] [ENSMUST00000108536] [ENSMUST00000108537]

AlphaFold

Q8C9M8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045810
AA Change: F509I

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039073
Gene: ENSMUSG00000033961
AA Change: F509I

Domain	Start	End	E-Value	Type
low complexity region	67	79	N/A	INTRINSIC
SCAN	122	234	1.29e-53	SMART
KRAB	299	360	3.96e-2	SMART
ZnF_C2H2	419	441	2.95e-3	SMART
ZnF_C2H2	468	490	8.47e-4	SMART
ZnF_C2H2	496	518	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108535

SMART Domains

Protein: ENSMUSP00000104175
Gene: ENSMUSG00000033961

Domain	Start	End	E-Value	Type
SCAN	22	134	1.29e-53	SMART
KRAB	199	254	1.14e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108536
AA Change: F409I

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104176
Gene: ENSMUSG00000033961
AA Change: F409I

Domain	Start	End	E-Value	Type
SCAN	22	134	1.29e-53	SMART
KRAB	199	260	3.96e-2	SMART
ZnF_C2H2	319	341	2.95e-3	SMART
ZnF_C2H2	368	390	8.47e-4	SMART
ZnF_C2H2	396	418	5.34e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108537
AA Change: F334I

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104177
Gene: ENSMUSG00000033961
AA Change: F334I

Domain	Start	End	E-Value	Type
SCAN	22	128	7.37e-49	SMART
KRAB	124	185	3.96e-2	SMART
ZnF_C2H2	244	266	2.95e-3	SMART
ZnF_C2H2	293	315	8.47e-4	SMART
ZnF_C2H2	321	343	5.34e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,565,122 (GRCm39)	I153V	probably benign	Het
Arhgap21	A	C	2: 20,886,116 (GRCm39)	S354A	probably benign	Het
Bcan	T	C	3: 87,896,516 (GRCm39)	T727A	probably damaging	Het
Brinp1	C	T	4: 68,747,692 (GRCm39)	G137E	probably damaging	Het
Catsperd	A	G	17: 56,970,419 (GRCm39)	Y697C	probably damaging	Het
Ccdc39	T	A	3: 33,886,808 (GRCm39)	K267*	probably null	Het
Ccdc47	C	A	11: 106,092,971 (GRCm39)	V92L	possibly damaging	Het
Cyp2c54	A	T	19: 40,059,990 (GRCm39)	I181N	probably damaging	Het
Ddx60	A	T	8: 62,427,184 (GRCm39)	D753V	probably damaging	Het
Dlg2	A	T	7: 91,935,796 (GRCm39)	K641N	probably damaging	Het
Eloa	G	A	4: 135,736,668 (GRCm39)	R527C	probably benign	Het
Fancd2	C	T	6: 113,545,187 (GRCm39)	P835L	probably damaging	Het
Fbln2	C	G	6: 91,227,846 (GRCm39)	T428S	probably damaging	Het
Fbn2	G	A	18: 58,153,462 (GRCm39)	A2600V	possibly damaging	Het
Gbe1	A	G	16: 70,233,876 (GRCm39)	Y251C	probably damaging	Het
Gnptab	T	A	10: 88,268,508 (GRCm39)		probably null	Het
Hspa1a	T	A	17: 35,191,033 (GRCm39)		probably benign	Het
Ifi204	G	A	1: 173,587,839 (GRCm39)	P107S	probably damaging	Het
Kif6	A	G	17: 49,978,164 (GRCm39)	I119V	probably damaging	Het
Lmntd2	G	A	7: 140,790,427 (GRCm39)	H554Y	probably benign	Het
Lrrc8e	C	A	8: 4,284,218 (GRCm39)	H148N	probably damaging	Het
Lrriq1	T	C	10: 103,050,914 (GRCm39)	N613D	probably damaging	Het
Map4k4	C	T	1: 40,028,136 (GRCm39)	T319M	probably damaging	Het
Mbtps1	C	T	8: 120,268,413 (GRCm39)	V253I	probably damaging	Het
Mcm4	C	A	16: 15,450,042 (GRCm39)	C330F	probably damaging	Het
Mok	A	G	12: 110,776,341 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,577,321 (GRCm39)	C49R	probably damaging	Het
Nlrp4e	T	C	7: 23,020,983 (GRCm39)	V490A	probably benign	Het
Nsf	A	T	11: 103,819,584 (GRCm39)	F27I	probably damaging	Het
Or10g3b	A	T	14: 52,586,696 (GRCm39)	L269Q	probably damaging	Het
Or14c44	A	G	7: 86,061,647 (GRCm39)	S26G	probably benign	Het
Or4a47	T	C	2: 89,665,609 (GRCm39)	N227D	probably benign	Het
Or5p73	G	T	7: 108,064,784 (GRCm39)	M84I	possibly damaging	Het
Or6c66	A	G	10: 129,461,114 (GRCm39)	I272T	possibly damaging	Het
Pax1	A	G	2: 147,206,968 (GRCm39)	M1V	probably null	Het
Pcdhga12	A	G	18: 37,900,631 (GRCm39)	T488A	probably damaging	Het
Plekhh2	A	G	17: 84,864,909 (GRCm39)	D99G	possibly damaging	Het
Polr3h	T	C	15: 81,800,824 (GRCm39)	T173A	probably benign	Het
Pramel6	C	T	2: 87,339,045 (GRCm39)	L82F	probably damaging	Het
Ralgapa2	A	T	2: 146,230,463 (GRCm39)	I1034N	probably damaging	Het
Rbfox1	G	A	16: 7,042,319 (GRCm39)	V58I	probably damaging	Het
Reln	T	A	5: 22,104,027 (GRCm39)	I3315L	probably benign	Het
Rev3l	T	A	10: 39,682,844 (GRCm39)	S321T	probably damaging	Het
Ryr1	T	C	7: 28,740,292 (GRCm39)	T3908A	probably damaging	Het
Secisbp2l	G	T	2: 125,617,502 (GRCm39)	Y58*	probably null	Het
Sgms1	C	A	19: 32,102,697 (GRCm39)	V337L	probably benign	Het
Slc38a2	G	A	15: 96,593,172 (GRCm39)	Q136*	probably null	Het
Smarcd1	T	A	15: 99,605,657 (GRCm39)	V296D	probably damaging	Het
Smcr8	A	C	11: 60,674,822 (GRCm39)	H866P	probably damaging	Het
Spcs1	T	A	14: 30,722,721 (GRCm39)	I33L	probably benign	Het
Stxbp5	T	C	10: 9,688,033 (GRCm39)	R423G	possibly damaging	Het
Syt4	A	T	18: 31,576,790 (GRCm39)	M188K	possibly damaging	Het
Tchhl1	A	G	3: 93,376,869 (GRCm39)	D22G	probably damaging	Het
Tiparp	T	A	3: 65,453,655 (GRCm39)	N134K	probably benign	Het
Topaz1	A	G	9: 122,579,001 (GRCm39)	D637G	possibly damaging	Het
Trav14d-3-dv8	A	T	14: 53,316,192 (GRCm39)		probably benign	Het
Vmn1r19	A	T	6: 57,382,166 (GRCm39)	M240L	probably benign	Het
Vmn1r77	T	A	7: 11,775,514 (GRCm39)	S29T	probably damaging	Het
Vps13d	A	G	4: 144,881,817 (GRCm39)	F1253L	probably benign	Het
Zfp407	G	A	18: 84,580,895 (GRCm39)	R73*	probably null	Het
Zfp654	A	T	16: 64,606,011 (GRCm39)	Y730*	probably null	Het

Other mutations in Zfp446

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Zfp446	APN	7	12,713,307 (GRCm39)	critical splice donor site	probably null
IGL01534:Zfp446	APN	7	12,713,493 (GRCm39)	missense	probably damaging	1.00
IGL02471:Zfp446	APN	7	12,716,181 (GRCm39)	missense	probably benign	0.41
IGL02888:Zfp446	APN	7	12,713,255 (GRCm39)	missense	probably damaging	1.00
IGL03153:Zfp446	APN	7	12,711,834 (GRCm39)	missense	probably benign	0.01
IGL03185:Zfp446	APN	7	12,712,925 (GRCm39)	missense	probably null	0.43
IGL03242:Zfp446	APN	7	12,713,252 (GRCm39)	missense	probably damaging	1.00
R0538:Zfp446	UTSW	7	12,713,516 (GRCm39)	missense	possibly damaging	0.94
R1809:Zfp446	UTSW	7	12,713,048 (GRCm39)	missense	probably damaging	1.00
R3686:Zfp446	UTSW	7	12,716,580 (GRCm39)	missense	probably damaging	0.97
R3701:Zfp446	UTSW	7	12,712,079 (GRCm39)	unclassified	probably benign
R5256:Zfp446	UTSW	7	12,713,231 (GRCm39)	nonsense	probably null
R5363:Zfp446	UTSW	7	12,711,984 (GRCm39)	missense	probably benign	0.20
R5377:Zfp446	UTSW	7	12,716,178 (GRCm39)	missense	possibly damaging	0.88
R6806:Zfp446	UTSW	7	12,713,043 (GRCm39)	missense	probably damaging	1.00
R7167:Zfp446	UTSW	7	12,712,049 (GRCm39)	unclassified	probably benign
R7988:Zfp446	UTSW	7	12,712,970 (GRCm39)	missense	possibly damaging	0.93
R8288:Zfp446	UTSW	7	12,711,885 (GRCm39)	missense	probably benign	0.00
R8943:Zfp446	UTSW	7	12,713,564 (GRCm39)	nonsense	probably null
R9315:Zfp446	UTSW	7	12,713,397 (GRCm39)	missense	probably benign	0.28
Z1177:Zfp446	UTSW	7	12,712,093 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGAGAGACCATCACAGGTG -3'
(R):5'- AGGAAGGGACTAGCCTCTTC -3'

Sequencing Primer
(F):5'- ACCATCACAGGTGGCCCG -3'
(R):5'- CTCCTTACACTGGATAGTCTGGTG -3'

Posted On

2021-01-18