Mutagenetix > Incidental Mutation

Incidental Mutation 'R4483:Zfp507'

331495

Institutional Source

Beutler Lab

Gene Symbol

Zfp507

Ensembl Gene

ENSMUSG00000044452

Gene Name

zinc finger protein 507

Synonyms

1810022O10Rik, A230056M16Rik

MMRRC Submission

041739-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R4483 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35772343-35803003 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 35787716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061586] [ENSMUST00000187282] [ENSMUST00000205670] [ENSMUST00000206615]

AlphaFold

Q6ZPY5

Predicted Effect

probably null
Transcript: ENSMUST00000061586

SMART Domains

Protein: ENSMUSP00000058609
Gene: ENSMUSG00000044452

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

probably null
Transcript: ENSMUST00000187282

SMART Domains

Protein: ENSMUSP00000140940
Gene: ENSMUSG00000044452

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205670

Predicted Effect

probably null
Transcript: ENSMUST00000206615

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,419,230	G5275S	probably benign	Het
Akap11	A	G	14: 78,510,259	S1563P	probably damaging	Het
Ankrd50	A	G	3: 38,457,531	V229A	probably damaging	Het
AW112010	A	G	19: 11,050,393		noncoding transcript	Het
Ccdc158	A	G	5: 92,633,328	S873P	probably benign	Het
Cep350	A	G	1: 155,926,468	V1104A	probably benign	Het
Chil4	G	A	3: 106,214,362	A57V	probably damaging	Het
Cpa5	A	G	6: 30,624,626	E155G	probably damaging	Het
Ctsq	T	C	13: 61,038,912	I93V	probably benign	Het
Dbi	A	T	1: 120,120,805	I37K	probably benign	Het
Defa35	T	C	8: 21,065,192	S43P	probably damaging	Het
Fance	T	A	17: 28,315,807		probably benign	Het
Fbxl6	A	G	15: 76,537,929	L180P	probably damaging	Het
Fkbpl	T	C	17: 34,646,295	F346L	probably damaging	Het
Gm11735	C	A	11: 116,741,275		noncoding transcript	Het
Gm28042	T	C	2: 120,035,840	I373T	possibly damaging	Het
Golga4	T	C	9: 118,514,186	S27P	probably damaging	Het
Gstm1	C	T	3: 108,016,518		probably null	Het
Lama3	T	A	18: 12,549,253	I1092K	probably benign	Het
Med15	A	T	16: 17,671,564		probably benign	Het
Nlrp6	A	G	7: 140,921,781	D87G	probably damaging	Het
Parp11	A	G	6: 127,471,605	T62A	probably benign	Het
Pcnt	A	G	10: 76,401,483	L1323S	probably damaging	Het
Ppp2r1a	C	T	17: 20,955,810	T98I	probably benign	Het
Pramef6	T	A	4: 143,895,840	Y315F	probably damaging	Het
Prl7a2	T	A	13: 27,660,947	H152L	possibly damaging	Het
Rnf145	T	C	11: 44,564,277	S662P	probably benign	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Tnfaip3	A	T	10: 19,011,627	M50K	probably damaging	Het
Txlnb	T	TTA	10: 17,838,997		probably null	Het
Usp9x	A	G	X: 13,121,448	D638G	possibly damaging	Het
Vmn1r30	A	T	6: 58,435,133	V238E	probably damaging	Het
Zfp532	G	T	18: 65,656,565	W1025L	probably benign	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
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
R5602:Zfp507	UTSW	7	35776238	nonsense	probably null
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'- TGCTGAACTGAGACTCACGC -3'
(R):5'- CCTTGGCACGTAGTATCATAATTAC -3'

Sequencing Primer
(F):5'- GCTGAACTGAGACTCACGCTTAATG -3'
(R):5'- CATGATGAGGTGTAAATGCTCCC -3'

Posted On

2015-07-21