Mutagenetix > Incidental Mutation

Incidental Mutation 'R5602:Zfp507'

439078

Institutional Source

Beutler Lab

Gene Symbol

Zfp507

Ensembl Gene

ENSMUSG00000044452

Gene Name

zinc finger protein 507

Synonyms

1810022O10Rik, A230056M16Rik

MMRRC Submission

043154-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R5602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35772343-35803003 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 35776238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 58 (S58*)

Ref Sequence

ENSEMBL: ENSMUSP00000140940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061586] [ENSMUST00000187282] [ENSMUST00000206615]

AlphaFold

Q6ZPY5

Predicted Effect

probably null
Transcript: ENSMUST00000061586
AA Change: S850*

SMART Domains

Protein: ENSMUSP00000058609
Gene: ENSMUSG00000044452
AA Change: S850*

Domain	Start	End	E-Value	Type
ZnF_C2H2	122	144	1.56e-2	SMART
ZnF_C2H2	152	175	2.49e-1	SMART
low complexity region	178	192	N/A	INTRINSIC
ZnF_C2H2	237	259	8.52e0	SMART
ZnF_C2H2	630	652	2.75e-3	SMART
ZnF_C2H2	658	680	1.26e-2	SMART
ZnF_C2H2	686	709	5.42e-2	SMART
ZnF_C2H2	746	768	4.79e-3	SMART
ZnF_C2H2	774	796	1.45e-2	SMART
ZnF_C2H2	899	921	3.83e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181078

Predicted Effect

probably null
Transcript: ENSMUST00000187282
AA Change: S58*

SMART Domains

Protein: ENSMUSP00000140940
Gene: ENSMUSG00000044452
AA Change: S58*

Domain	Start	End	E-Value	Type
ZnF_C2H2	107	129	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206761

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	G	A	9: 92,352,668	C152Y	possibly damaging	Het
4921509C19Rik	G	A	2: 151,473,539	S73F	possibly damaging	Het
4932414N04Rik	A	T	2: 68,748,368	*753L	probably null	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam19	T	C	11: 46,136,315	S592P	probably benign	Het
Adamtsl3	A	G	7: 82,557,239	K843R	possibly damaging	Het
Ap2a2	A	T	7: 141,604,942	T213S	probably benign	Het
Asb5	A	G	8: 54,585,939	E280G	probably benign	Het
Becn1	T	C	11: 101,288,952	D403G	probably damaging	Het
Ccr7	G	T	11: 99,145,489	N202K	probably benign	Het
Cd36	T	C	5: 17,814,792	T104A	possibly damaging	Het
Cnot4	C	T	6: 35,051,529	W384*	probably null	Het
Col15a1	G	A	4: 47,312,087	V1301M	probably damaging	Het
Dock2	C	A	11: 34,254,391	A1384S	probably benign	Het
Ehbp1l1	T	C	19: 5,708,670	E1648G	possibly damaging	Het
Fbn1	G	T	2: 125,321,741	A2065E	possibly damaging	Het
Fras1	A	G	5: 96,737,021	Y2586C	probably damaging	Het
Galm	T	A	17: 80,150,139	Y28*	probably null	Het
Ggt7	A	G	2: 155,490,999	V648A	possibly damaging	Het
Gm17067	T	A	7: 42,708,415	D221V	probably damaging	Het
Gpr3	T	C	4: 133,210,494	N289S	probably damaging	Het
Ighv11-2	G	A	12: 114,048,479	L39F	probably damaging	Het
Ighv11-2	A	G	12: 114,048,657		probably benign	Het
Ipo9	G	A	1: 135,402,245	L486F	probably damaging	Het
Jak2	T	A	19: 29,298,339	N726K	probably benign	Het
Map4	T	C	9: 110,052,700	S211P	possibly damaging	Het
Mlh1	A	T	9: 111,252,878	L259Q	probably damaging	Het
Naa25	A	G	5: 121,420,495	E300G	probably benign	Het
Olfr954	A	T	9: 39,462,030	M200L	probably benign	Het
Olfr969	T	A	9: 39,796,194	V273E	possibly damaging	Het
Parva	G	A	7: 112,567,765	V182I	probably benign	Het
Pcdhgb4	T	C	18: 37,721,644	I364T	probably damaging	Het
Pdik1l	A	G	4: 134,284,269	S164P	probably damaging	Het
Pfas	A	T	11: 68,991,045	I938N	probably benign	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Prob1	C	T	18: 35,654,026	V392M	possibly damaging	Het
Rasgrf1	T	C	9: 89,911,571	S134P	possibly damaging	Het
Rorb	T	A	19: 18,977,937	Y20F	probably damaging	Het
Rsph9	G	T	17: 46,134,983	D220E	probably damaging	Het
Safb2	C	A	17: 56,575,630	K334N	possibly damaging	Het
Sall3	T	C	18: 80,972,812	T634A	probably benign	Het
Scaf1	A	G	7: 45,007,583		probably benign	Het
Slco1a5	T	A	6: 142,275,529		probably benign	Het
Spata21	C	T	4: 141,096,899	R158C	probably benign	Het
Srrm2	G	A	17: 23,819,337		probably benign	Het
Stk38l	C	A	6: 146,758,500	T10N	probably benign	Het
Supv3l1	G	A	10: 62,430,592	P602S	possibly damaging	Het
Timm44	C	T	8: 4,266,769		probably null	Het
Tll2	T	A	19: 41,104,981	R465S	possibly damaging	Het
Tmem104	G	A	11: 115,205,124	A164T	probably damaging	Het
Tmem151b	A	G	17: 45,545,600	S305P	probably damaging	Het
Utrn	T	C	10: 12,750,095	D114G	probably damaging	Het
Vmn2r109	A	T	17: 20,540,671	M808K	possibly damaging	Het
Washc2	T	A	6: 116,248,095	D801E	possibly damaging	Het
Xkr4	T	C	1: 3,216,528	I480V	probably benign	Het
Zfp768	T	A	7: 127,344,632	D108V	possibly damaging	Het

Other mutations in Zfp507

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Zfp507	APN	7	35794712	missense	possibly damaging	0.93
IGL00835:Zfp507	APN	7	35776038	missense	probably damaging	1.00
IGL01083:Zfp507	APN	7	35794038	missense	probably benign	0.00
IGL01359:Zfp507	APN	7	35794502	missense	probably damaging	1.00
IGL01418:Zfp507	APN	7	35793812	splice site	probably null
IGL02122:Zfp507	APN	7	35776095	missense	probably damaging	1.00
IGL02506:Zfp507	APN	7	35776466	missense	probably damaging	1.00
IGL02601:Zfp507	APN	7	35791711	missense	probably damaging	1.00
IGL02643:Zfp507	APN	7	35795231	missense	probably damaging	0.99
IGL03129:Zfp507	APN	7	35794206	missense	probably damaging	1.00
R0400:Zfp507	UTSW	7	35791746	missense	probably damaging	1.00
R0812:Zfp507	UTSW	7	35802623	intron	probably benign
R1183:Zfp507	UTSW	7	35794890	missense	probably damaging	0.99
R1381:Zfp507	UTSW	7	35776010	missense	possibly damaging	0.91
R1542:Zfp507	UTSW	7	35794801	missense	possibly damaging	0.71
R1626:Zfp507	UTSW	7	35795433	missense	probably damaging	1.00
R1759:Zfp507	UTSW	7	35775978	missense	probably damaging	0.99
R1843:Zfp507	UTSW	7	35793725	missense	probably damaging	0.97
R1852:Zfp507	UTSW	7	35787751	missense	probably damaging	1.00
R1893:Zfp507	UTSW	7	35802627	intron	probably benign
R1923:Zfp507	UTSW	7	35793725	missense	probably damaging	0.97
R1925:Zfp507	UTSW	7	35793725	missense	probably damaging	0.97
R1927:Zfp507	UTSW	7	35793725	missense	probably damaging	0.97
R2139:Zfp507	UTSW	7	35793723	missense	probably damaging	1.00
R2191:Zfp507	UTSW	7	35794843	missense	probably damaging	1.00
R2431:Zfp507	UTSW	7	35795402	missense	probably benign	0.08
R2921:Zfp507	UTSW	7	35794799	missense	probably damaging	1.00
R2922:Zfp507	UTSW	7	35794799	missense	probably damaging	1.00
R3436:Zfp507	UTSW	7	35787770	missense	probably damaging	1.00
R4483:Zfp507	UTSW	7	35787716	critical splice donor site	probably null
R4751:Zfp507	UTSW	7	35794382	missense	probably damaging	0.99
R4852:Zfp507	UTSW	7	35794055	missense	probably benign	0.01
R5298:Zfp507	UTSW	7	35775996	missense	probably damaging	0.99
R5707:Zfp507	UTSW	7	35794163	missense	probably damaging	1.00
R5785:Zfp507	UTSW	7	35787742	missense	probably benign	0.20
R6140:Zfp507	UTSW	7	35794188	missense	probably damaging	1.00
R6674:Zfp507	UTSW	7	35794734	missense	probably damaging	0.98
R6714:Zfp507	UTSW	7	35787727	missense	probably damaging	0.99
R7045:Zfp507	UTSW	7	35795553	missense	possibly damaging	0.56
R7334:Zfp507	UTSW	7	35776080	missense	probably damaging	1.00
R7365:Zfp507	UTSW	7	35776418	missense	unknown
R7569:Zfp507	UTSW	7	35794544	missense	probably damaging	0.99
R7662:Zfp507	UTSW	7	35787804	nonsense	probably null
R7846:Zfp507	UTSW	7	35794538	missense	probably damaging	1.00
R9100:Zfp507	UTSW	7	35795021	missense	probably benign	0.39
R9136:Zfp507	UTSW	7	35776458	missense	probably damaging	0.96
R9513:Zfp507	UTSW	7	35776148	missense	probably benign	0.00
Z1088:Zfp507	UTSW	7	35794277	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TCCTTCATGTGATCCAGGAGG -3'
(R):5'- CCACCCTTCACTTGATGGCTAG -3'

Sequencing Primer
(F):5'- TGCTGGTTGACTCAAAGCC -3'
(R):5'- CCTTCACTTGATGGCTAGGTACAGAG -3'

Posted On

2016-10-26