Mutagenetix > Incidental Mutation

Incidental Mutation 'R3900:Zfp248'

308930

Institutional Source

Beutler Lab

Gene Symbol

Zfp248

Ensembl Gene

ENSMUSG00000030145

Gene Name

zinc finger protein 248

Synonyms

2810037F07Rik, E130106N01Rik

MMRRC Submission

041607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R3900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118404280-118432489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118406527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 253 (N253S)

Ref Sequence

ENSEMBL: ENSMUSP00000124539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069292] [ENSMUST00000159403] [ENSMUST00000161519]

AlphaFold

Q640N4

Predicted Effect

probably damaging
Transcript: ENSMUST00000069292
AA Change: N354S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068807
Gene: ENSMUSG00000030145
AA Change: N354S

Domain	Start	End	E-Value	Type
KRAB	8	68	2.4e-35	SMART
internal_repeat_1	209	375	2.52e-18	PROSPERO
ZnF_C2H2	377	399	3.89e-3	SMART
ZnF_C2H2	405	427	3.95e-4	SMART
ZnF_C2H2	433	455	4.24e-4	SMART
ZnF_C2H2	461	483	8.94e-3	SMART
ZnF_C2H2	489	511	8.47e-4	SMART
ZnF_C2H2	517	539	8.02e-5	SMART
ZnF_C2H2	545	567	6.52e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159403

Predicted Effect

probably damaging
Transcript: ENSMUST00000161519
AA Change: N253S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124539
Gene: ENSMUSG00000030145
AA Change: N253S

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_6	165	188	3.3e-2	PFAM
ZnF_C2H2	276	298	3.89e-3	SMART
ZnF_C2H2	304	326	3.95e-4	SMART
ZnF_C2H2	332	354	4.24e-4	SMART
ZnF_C2H2	360	382	8.94e-3	SMART
ZnF_C2H2	388	410	8.47e-4	SMART
ZnF_C2H2	416	438	8.02e-5	SMART
ZnF_C2H2	444	466	6.52e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175338

Meta Mutation Damage Score

0.3831

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,781 (GRCm39)	S212R	probably damaging	Het
AI182371	T	C	2: 34,975,228 (GRCm39)	I334V	probably benign	Het
Anpep	A	G	7: 79,488,973 (GRCm39)	S372P	probably benign	Het
Apc2	C	A	10: 80,131,806 (GRCm39)		probably null	Het
Bcl6	T	G	16: 23,796,304 (GRCm39)	E41A	possibly damaging	Het
Brpf1	A	G	6: 113,295,394 (GRCm39)	I674V	probably benign	Het
Cherp	A	G	8: 73,223,780 (GRCm39)	I201T	possibly damaging	Het
Cluh	A	G	11: 74,557,930 (GRCm39)	H1056R	probably benign	Het
Csgalnact2	A	T	6: 118,097,975 (GRCm39)	F122I	probably damaging	Het
Cubn	C	A	2: 13,291,791 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,985,634 (GRCm39)	I1481N	possibly damaging	Het
Eif2ak4	A	G	2: 118,305,510 (GRCm39)	Y1561C	probably damaging	Het
Elfn1	G	A	5: 139,957,719 (GRCm39)	R241H	probably damaging	Het
Eml5	G	A	12: 98,791,782 (GRCm39)	R1245C	probably damaging	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm6133	A	G	18: 78,393,365 (GRCm39)	N120D	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf9	T	C	1: 172,317,125 (GRCm39)	L35P	probably damaging	Het
Khdc3	T	C	9: 73,011,628 (GRCm39)		probably benign	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Mrgpra1	G	T	7: 46,985,275 (GRCm39)	R135S	possibly damaging	Het
Or4c11b	A	T	2: 88,625,273 (GRCm39)	L182F	possibly damaging	Het
Or8g2b	A	G	9: 39,750,698 (GRCm39)		probably null	Het
Otud3	T	C	4: 138,624,196 (GRCm39)	N282S	probably benign	Het
Prkar1a	A	G	11: 109,551,901 (GRCm39)	K130R	probably benign	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Rictor	T	G	15: 6,818,954 (GRCm39)	D1392E	probably benign	Het
Setd2	C	T	9: 110,421,586 (GRCm39)	R273W	probably damaging	Het
Slc22a18	C	A	7: 143,033,507 (GRCm39)	A86E	probably damaging	Het
Slc24a1	A	T	9: 64,835,426 (GRCm39)	S900R	probably damaging	Het
Smarcc1	T	C	9: 109,947,586 (GRCm39)		probably benign	Het
Smoc1	T	C	12: 81,214,287 (GRCm39)	V234A	probably damaging	Het
Stard9	A	G	2: 120,544,030 (GRCm39)	T4443A	possibly damaging	Het
Timp2	C	T	11: 118,194,542 (GRCm39)	D139N	probably damaging	Het
Trim69	A	G	2: 122,009,322 (GRCm39)	T461A	probably benign	Het
Ubash3b	C	T	9: 40,942,860 (GRCm39)	D211N	probably benign	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,019,486 (GRCm39)	D752G	probably damaging	Het
Urb1	A	T	16: 90,580,264 (GRCm39)	I633N	possibly damaging	Het
Usp36	T	A	11: 118,170,650 (GRCm39)	D28V	possibly damaging	Het
Wdr6	G	A	9: 108,452,968 (GRCm39)	A305V	probably damaging	Het

Other mutations in Zfp248

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Zfp248	APN	6	118,406,693 (GRCm39)	missense	probably damaging	1.00
IGL02268:Zfp248	APN	6	118,430,801 (GRCm39)	intron	probably benign
R1374:Zfp248	UTSW	6	118,410,334 (GRCm39)	missense	probably damaging	1.00
R1678:Zfp248	UTSW	6	118,406,765 (GRCm39)	missense	probably benign	0.02
R1794:Zfp248	UTSW	6	118,406,264 (GRCm39)	missense	probably damaging	1.00
R1834:Zfp248	UTSW	6	118,405,931 (GRCm39)	missense	probably damaging	0.98
R3948:Zfp248	UTSW	6	118,407,155 (GRCm39)	frame shift	probably null
R4661:Zfp248	UTSW	6	118,410,268 (GRCm39)	missense	possibly damaging	0.84
R4810:Zfp248	UTSW	6	118,406,807 (GRCm39)	missense	possibly damaging	0.68
R4924:Zfp248	UTSW	6	118,406,033 (GRCm39)	missense	probably damaging	1.00
R4926:Zfp248	UTSW	6	118,406,787 (GRCm39)	missense	possibly damaging	0.74
R7326:Zfp248	UTSW	6	118,407,170 (GRCm39)	missense	probably damaging	1.00
R7357:Zfp248	UTSW	6	118,406,618 (GRCm39)	missense	probably damaging	1.00
R7910:Zfp248	UTSW	6	118,407,103 (GRCm39)	missense	possibly damaging	0.93
R9332:Zfp248	UTSW	6	118,405,891 (GRCm39)	missense	possibly damaging	0.58
R9789:Zfp248	UTSW	6	118,406,012 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAAGGTCTTCCCACACAC -3'
(R):5'- CGAGCGTAACGAATATGAGAAACTC -3'

Sequencing Primer
(F):5'- GGTTTGACTTGACACAGAACGTC -3'
(R):5'- GAAACTCTTCTGTGACGGTACAGC -3'

Posted On

2015-04-17