Mutagenetix > Incidental Mutation

Incidental Mutation 'R1374:Zfp248'

157438

Institutional Source

Beutler Lab

Gene Symbol

Zfp248

Ensembl Gene

ENSMUSG00000030145

Gene Name

zinc finger protein 248

Synonyms

2810037F07Rik, E130106N01Rik

MMRRC Submission

039438-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118404280-118432489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118410334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 25 (L25P)

Ref Sequence

ENSEMBL: ENSMUSP00000068807 (fasta)

Gene Model

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

AlphaFold

Q640N4

Predicted Effect

probably damaging
Transcript: ENSMUST00000069292
AA Change: L25P

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

SMART Domains

Protein: ENSMUSP00000068807
Gene: ENSMUSG00000030145
AA Change: L25P

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 benign
Transcript: ENSMUST00000161519

SMART Domains

Protein: ENSMUSP00000124539
Gene: ENSMUSG00000030145

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

0.9088

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 90.1%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap5z1	G	A	5: 142,456,213 (GRCm39)	R344H	probably damaging	Het
Ccdc38	C	T	10: 93,418,296 (GRCm39)		probably benign	Het
Cd47	T	C	16: 49,714,543 (GRCm39)	L184P	probably damaging	Het
Cps1	T	C	1: 67,269,440 (GRCm39)	S1480P	probably damaging	Het
Cyp2a4	A	G	7: 26,012,348 (GRCm39)	D377G	probably damaging	Het
Ddb1	G	A	19: 10,585,682 (GRCm39)	G132D	probably damaging	Het
Dlgap2	T	C	8: 14,881,228 (GRCm39)		probably benign	Het
Epg5	A	G	18: 78,024,541 (GRCm39)	D1132G	probably benign	Het
Fam184b	T	C	5: 45,712,485 (GRCm39)	E511G	probably benign	Het
Fbn1	T	A	2: 125,188,354 (GRCm39)	D1495V	probably damaging	Het
Gpatch1	A	T	7: 34,991,187 (GRCm39)	L619Q	probably damaging	Het
Inpp4b	T	G	8: 82,470,445 (GRCm39)		probably null	Het
Kifc1	T	C	17: 34,102,849 (GRCm39)	R192G	probably benign	Het
Klhl30	C	T	1: 91,288,798 (GRCm39)	T519M	probably damaging	Het
Klhl8	A	C	5: 104,011,049 (GRCm39)	L516R	probably damaging	Het
Meikin	T	A	11: 54,289,270 (GRCm39)		probably benign	Het
Mlph	T	A	1: 90,869,425 (GRCm39)	S476T	probably damaging	Het
Neb	T	C	2: 52,133,401 (GRCm39)	Y3379C	probably damaging	Het
Nfxl1	G	A	5: 72,681,488 (GRCm39)	T681I	probably benign	Het
Nhsl3	A	G	4: 129,116,082 (GRCm39)	S849P	possibly damaging	Het
Obox1	A	T	7: 15,289,426 (GRCm39)		probably benign	Het
Oplah	G	A	15: 76,190,755 (GRCm39)	R31C	probably damaging	Het
Polb	T	C	8: 23,143,073 (GRCm39)		probably benign	Het
Ppfibp2	A	G	7: 107,285,195 (GRCm39)		probably benign	Het
Prr12	A	G	7: 44,695,642 (GRCm39)	S1275P	unknown	Het
Ptcd3	C	A	6: 71,885,637 (GRCm39)	E30*	probably null	Het
Ranbp2	T	C	10: 58,321,715 (GRCm39)		probably benign	Het
Rapgef2	A	G	3: 78,995,275 (GRCm39)	V791A	probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rims1	G	A	1: 22,367,172 (GRCm39)	T1176M	probably damaging	Het
Ripor2	T	C	13: 24,857,095 (GRCm39)		probably null	Het
Sae1	A	G	7: 16,112,333 (GRCm39)	I60T	probably damaging	Het
Tenm2	T	C	11: 35,899,281 (GRCm39)	T2626A	probably benign	Het
Trrap	A	G	5: 144,783,428 (GRCm39)	Q3419R	probably damaging	Het
Vill	C	A	9: 118,890,562 (GRCm39)	N158K	probably benign	Het
Zbtb14	A	G	17: 69,694,575 (GRCm39)	N91S	probably damaging	Het
Zmym1	T	A	4: 126,943,404 (GRCm39)	K230I	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
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
R3900:Zfp248	UTSW	6	118,406,527 (GRCm39)	missense	probably damaging	1.00
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'- TCTGGCTTAGTAACACAATGCCCTG -3'
(R):5'- GGTTTTGCCAGCCTCAGCACTATTC -3'

Sequencing Primer
(F):5'- aaaaaaaaaaaaaaggaagggaggg -3'
(R):5'- CAGGAGCAAGTGTCGTTCAA -3'

Posted On

2014-02-18