Mutagenetix > Incidental Mutation

Incidental Mutation 'R6462:Zfp46'

517631

Institutional Source

Beutler Lab

Gene Symbol

Zfp46

Ensembl Gene

ENSMUSG00000051351

Gene Name

zinc finger protein 46

Synonyms

Zfp-46

MMRRC Submission

044596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R6462 (G1)

Quality Score

217.009

Status

Validated

Chromosome

Chromosomal Location

136011994-136021253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 136017924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 253 (T253P)

Ref Sequence

ENSEMBL: ENSMUSP00000070216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069195] [ENSMUST00000130223] [ENSMUST00000130658] [ENSMUST00000144217]

AlphaFold

Q8BPP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000069195
AA Change: T253P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000070216
Gene: ENSMUSG00000051351
AA Change: T253P

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART
ZnF_C2H2	120	142	3.21e-4	SMART
ZnF_C2H2	148	170	2.95e-3	SMART
ZnF_C2H2	176	198	1.95e-3	SMART
ZnF_C2H2	204	226	4.47e-3	SMART
ZnF_C2H2	232	254	1.22e-4	SMART
ZnF_C2H2	260	282	2.43e-4	SMART
ZnF_C2H2	288	310	6.42e-4	SMART
ZnF_C2H2	316	338	4.47e-3	SMART
ZnF_C2H2	344	366	5.59e-4	SMART
ZnF_C2H2	372	394	1.12e-3	SMART
ZnF_C2H2	400	422	1.38e-3	SMART
ZnF_C2H2	428	450	7.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130223

SMART Domains

Protein: ENSMUSP00000115774
Gene: ENSMUSG00000051351

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130658

SMART Domains

Protein: ENSMUSP00000116237
Gene: ENSMUSG00000051351

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART
SCOP:d1fgja_	103	130	6e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132649

Predicted Effect

probably benign
Transcript: ENSMUST00000144217

SMART Domains

Protein: ENSMUSP00000118495
Gene: ENSMUSG00000051351

Domain	Start	End	E-Value	Type
KRAB	1	57	6.97e-14	SMART
ZnF_C2H2	120	142	3.21e-4	SMART

Meta Mutation Damage Score

0.3068

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.6%

Validation Efficiency

95% (37/39)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc1a	C	T	5: 145,045,197 (GRCm39)	S362F	probably benign	Het
Brd9	C	T	13: 74,088,788 (GRCm39)	A171V	probably damaging	Het
Camta1	A	G	4: 151,170,621 (GRCm39)	V62A	probably damaging	Het
Cdc5l	G	A	17: 45,703,975 (GRCm39)	R750C	probably benign	Het
Ctdp1	C	T	18: 80,463,689 (GRCm39)	E116K	probably damaging	Het
Dync2i1	T	C	12: 116,193,251 (GRCm39)	N567S	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epor	T	C	9: 21,870,551 (GRCm39)	E443G	probably benign	Het
Fam90a1a	A	T	8: 22,449,298 (GRCm39)	Q14L	probably benign	Het
Herc4	T	C	10: 63,124,880 (GRCm39)	L498P	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lmod2	T	G	6: 24,604,300 (GRCm39)	V425G	probably benign	Het
Ly6c1	T	A	15: 74,916,178 (GRCm39)		probably benign	Het
Me2	C	A	18: 73,908,470 (GRCm39)	V490F	probably benign	Het
Mllt3	T	C	4: 87,692,338 (GRCm39)	T27A	probably damaging	Het
Mmp1a	T	C	9: 7,467,039 (GRCm39)	Y239H	probably benign	Het
Mycbp2	A	G	14: 103,373,993 (GRCm39)		probably null	Het
Myo15b	A	C	11: 115,750,268 (GRCm39)	E346A	probably benign	Het
Myo3a	T	C	2: 22,448,423 (GRCm39)	F66S	probably damaging	Het
Ncor2	T	C	5: 125,101,236 (GRCm39)	Y137C	probably damaging	Het
Nup98	A	T	7: 101,844,223 (GRCm39)	F37L	probably benign	Het
Odf2l	T	G	3: 144,852,672 (GRCm39)	L472R	probably damaging	Het
Or10al2	T	C	17: 37,983,111 (GRCm39)	Y66H	probably damaging	Het
P4ha3	T	A	7: 99,963,873 (GRCm39)	I463N	probably damaging	Het
Pappa	C	A	4: 65,043,128 (GRCm39)	T117K	probably damaging	Het
Ppme1	C	A	7: 99,987,599 (GRCm39)	R271M	probably benign	Het
Rps6ka4	T	G	19: 6,814,957 (GRCm39)	E249A	possibly damaging	Het
Rxfp1	T	A	3: 79,555,596 (GRCm39)	I587F	probably benign	Het
Sipa1l2	A	G	8: 126,217,969 (GRCm39)	V456A	probably damaging	Het
Slc25a23	T	A	17: 57,359,720 (GRCm39)	I344F	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,893 (GRCm39)	I389M	possibly damaging	Het
Tep1	A	G	14: 51,081,836 (GRCm39)	F1205L	probably benign	Het
Tgfbr1	T	A	4: 47,402,846 (GRCm39)	H214Q	probably damaging	Het
Traf3ip2	T	A	10: 39,515,243 (GRCm39)	N340K	probably benign	Het
Zbbx	T	C	3: 74,985,966 (GRCm39)	E362G	probably benign	Het

Other mutations in Zfp46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1617:Zfp46	UTSW	4	136,017,823 (GRCm39)	missense	probably damaging	1.00
R4671:Zfp46	UTSW	4	136,017,484 (GRCm39)	missense	probably damaging	0.99
R4883:Zfp46	UTSW	4	136,017,792 (GRCm39)	missense	probably damaging	0.99
R5945:Zfp46	UTSW	4	136,014,528 (GRCm39)	missense	probably damaging	0.98
R6286:Zfp46	UTSW	4	136,018,320 (GRCm39)	missense	probably damaging	0.97
R8517:Zfp46	UTSW	4	136,018,458 (GRCm39)	missense	probably benign	0.07
R9295:Zfp46	UTSW	4	136,017,876 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp46	UTSW	4	136,017,447 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACGAGTGCGGGAAAAGCTTC -3'
(R):5'- TACAGTGGTAGGGCTTCTCC -3'

Sequencing Primer
(F):5'- AAAAGCTTCGGCCGCAG -3'
(R):5'- CTTCTCCCCGGTGTGCG -3'

Posted On

2018-05-21