Mutagenetix > Incidental Mutation

Incidental Mutation 'R8237:Zfp407'

637446

Institutional Source

Beutler Lab

Gene Symbol

Zfp407

Ensembl Gene

ENSMUSG00000048410

Gene Name

zinc finger protein 407

Synonyms

LOC381139, 6430585N13Rik, LOC240469

MMRRC Submission

067669-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8237 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84225826-84612815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84578269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 948 (E948G)

Ref Sequence

ENSEMBL: ENSMUSP00000118361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125763]

AlphaFold

G3UVV3

Predicted Effect

probably benign
Transcript: ENSMUST00000125450

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125763
AA Change: E948G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: E948G

Domain	Start	End	E-Value	Type
low complexity region	20	37	N/A	INTRINSIC
ZnF_C2H2	178	200	8.67e-1	SMART
ZnF_U1	233	267	6.79e-1	SMART
ZnF_C2H2	236	260	4.65e-1	SMART
ZnF_C2H2	522	545	7.05e-1	SMART
ZnF_U1	548	582	1.54e1	SMART
ZnF_C2H2	551	575	1.01e-1	SMART
ZnF_C2H2	582	605	1.41e0	SMART
ZnF_U1	606	639	2.22e0	SMART
ZnF_C2H2	609	632	1.01e2	SMART
ZnF_C2H2	695	718	6.23e-2	SMART
ZnF_U1	721	755	2.96e0	SMART
ZnF_C2H2	724	748	7.11e0	SMART
ZnF_C2H2	840	863	7.55e-1	SMART
ZnF_U1	866	900	3.81e-1	SMART
ZnF_C2H2	869	893	1.07e0	SMART
ZnF_C2H2	1009	1032	6.13e-1	SMART
ZnF_U1	1035	1069	2.22e0	SMART
ZnF_C2H2	1038	1062	5.62e0	SMART
low complexity region	1223	1234	N/A	INTRINSIC
ZnF_C2H2	1405	1428	5.92e0	SMART
ZnF_U1	1432	1466	2.35e0	SMART
ZnF_C2H2	1435	1459	1.76e-1	SMART
ZnF_C2H2	1477	1500	5.42e-2	SMART
ZnF_C2H2	1528	1552	1.68e1	SMART
ZnF_C2H2	1558	1580	1.43e-1	SMART
ZnF_C2H2	1586	1609	9.58e-3	SMART
ZnF_C2H2	1619	1641	2.61e-4	SMART
ZnF_C2H2	1647	1671	1.04e-3	SMART
ZnF_C2H2	1677	1699	9.44e-2	SMART
ZnF_C2H2	1705	1727	1.82e-3	SMART
ZnF_C2H2	1733	1758	4.65e-1	SMART
ZnF_C2H2	1764	1787	1.26e-2	SMART
low complexity region	1876	1887	N/A	INTRINSIC
low complexity region	2017	2032	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.2%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,771,373 (GRCm39)	L285P	probably damaging	Het
Abca4	T	C	3: 121,955,952 (GRCm39)	I1905T	probably benign	Het
Abca5	A	T	11: 110,200,981 (GRCm39)	I473K	probably benign	Het
Adgrl3	CAA	CA	5: 81,935,408 (GRCm39)		probably null	Het
Ap2a1	C	A	7: 44,550,220 (GRCm39)	R959L	probably damaging	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Cbs	T	C	17: 31,834,454 (GRCm39)	I512V	probably benign	Het
Ccn4	C	A	15: 66,791,083 (GRCm39)	T295N	probably benign	Het
Ceacam3	T	C	7: 16,897,082 (GRCm39)	Y683H		Het
Chd8	C	T	14: 52,450,809 (GRCm39)	S1426N	probably damaging	Het
Cog8	T	C	8: 107,782,923 (GRCm39)	D122G	probably benign	Het
Crybg1	G	A	10: 43,842,376 (GRCm39)	Q1772*	probably null	Het
Cspg4	T	C	9: 56,799,964 (GRCm39)	F1576S	probably damaging	Het
Ctse	T	A	1: 131,590,467 (GRCm39)	V63E	probably benign	Het
Dnah3	G	T	7: 119,525,636 (GRCm39)	T3917N	probably benign	Het
Dst	C	T	1: 34,208,874 (GRCm39)	T1124M	possibly damaging	Het
Fkbp10	A	G	11: 100,306,785 (GRCm39)	Q59R	probably damaging	Het
Fsip1	A	G	2: 118,063,483 (GRCm39)	S329P	probably damaging	Het
Ginm1	G	T	10: 7,668,419 (GRCm39)	S56R	unknown	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm6401	T	A	14: 41,787,452 (GRCm39)	I125F	probably damaging	Het
Helz2	T	C	2: 180,871,124 (GRCm39)	D2815G	possibly damaging	Het
Hes1	T	C	16: 29,886,047 (GRCm39)	V217A	probably damaging	Het
Hsd3b1	C	T	3: 98,760,426 (GRCm39)	M188I	possibly damaging	Het
Ighv1-75	T	C	12: 115,797,876 (GRCm39)		probably benign	Het
Itprid2	T	C	2: 79,487,614 (GRCm39)	S566P	probably benign	Het
Kif1b	T	A	4: 149,275,642 (GRCm39)	N1423I	probably benign	Het
Lmntd1	G	A	6: 145,373,146 (GRCm39)	T129M	probably damaging	Het
Lonrf2	T	A	1: 38,839,854 (GRCm39)	T414S	probably benign	Het
Lrp1b	T	C	2: 40,741,786 (GRCm39)	D3161G		Het
Lyst	T	C	13: 13,826,317 (GRCm39)	I1608T	probably benign	Het
Map9	C	T	3: 82,284,467 (GRCm39)	P347L	probably damaging	Het
Mixl1	G	A	1: 180,524,322 (GRCm39)	Q86*	probably null	Het
Muc5b	T	C	7: 141,411,697 (GRCm39)	S1548P	unknown	Het
Myo15b	A	G	11: 115,767,827 (GRCm39)	K1376E		Het
Nlrc5	A	G	8: 95,252,753 (GRCm39)	T105A	unknown	Het
Npepps	A	G	11: 97,139,026 (GRCm39)		probably null	Het
Nup205	T	A	6: 35,204,438 (GRCm39)	F1441L	possibly damaging	Het
Or5p69	A	C	7: 107,967,234 (GRCm39)	H179P	probably damaging	Het
Pbx4	A	G	8: 70,317,093 (GRCm39)	T117A	probably benign	Het
Phf2	T	A	13: 48,976,514 (GRCm39)	T234S	unknown	Het
Pik3r2	G	A	8: 71,224,794 (GRCm39)	A194V	probably benign	Het
Plaat1	C	A	16: 29,039,106 (GRCm39)	T62K	probably benign	Het
Plbd2	T	C	5: 120,637,114 (GRCm39)	D116G	probably damaging	Het
Plpp2	G	A	10: 79,363,294 (GRCm39)	A235V	possibly damaging	Het
Prkce	G	T	17: 86,866,646 (GRCm39)	R502L	probably damaging	Het
Psrc1	C	T	3: 108,293,930 (GRCm39)	A249V	probably damaging	Het
Ptdss1	T	C	13: 67,124,841 (GRCm39)	C347R	probably damaging	Het
Serpina1b	C	A	12: 103,785,063 (GRCm39)		probably null	Het
Spcs1	C	G	14: 30,722,658 (GRCm39)	A113P	noncoding transcript	Het
Stxbp2	C	T	8: 3,685,695 (GRCm39)	T247M		Het
Tex15	A	G	8: 34,067,427 (GRCm39)	T2286A	possibly damaging	Het
Usp45	T	G	4: 21,834,274 (GRCm39)	V736G	probably damaging	Het
Vmn2r69	A	G	7: 85,060,340 (GRCm39)	S415P	probably benign	Het
Zfp942	A	T	17: 22,147,226 (GRCm39)	C468S	possibly damaging	Het
Zmym6	A	G	4: 127,016,544 (GRCm39)	E775G	probably damaging	Het
Zranb2	A	G	3: 157,250,677 (GRCm39)	R283G	probably null	Het

Other mutations in Zfp407

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Zfp407	APN	18	84,579,877 (GRCm39)	missense	probably damaging	0.99
IGL02105:Zfp407	APN	18	84,580,845 (GRCm39)	nonsense	probably null
IGL02110:Zfp407	APN	18	84,577,165 (GRCm39)	missense	probably benign	0.00
IGL02343:Zfp407	APN	18	84,227,849 (GRCm39)	missense	possibly damaging	0.71
IGL02456:Zfp407	APN	18	84,576,766 (GRCm39)	missense	probably damaging	1.00
IGL02705:Zfp407	APN	18	84,577,156 (GRCm39)	nonsense	probably null
IGL02946:Zfp407	APN	18	84,578,834 (GRCm39)	missense	probably damaging	1.00
IGL03069:Zfp407	APN	18	84,369,100 (GRCm39)	missense	probably damaging	1.00
IGL03145:Zfp407	APN	18	84,227,846 (GRCm39)	missense	probably damaging	0.99
IGL03403:Zfp407	APN	18	84,578,922 (GRCm39)	missense	probably damaging	1.00
IGL03134:Zfp407	UTSW	18	84,228,080 (GRCm39)	missense	probably damaging	0.99
PIT4362001:Zfp407	UTSW	18	84,579,393 (GRCm39)	missense	possibly damaging	0.87
PIT4520001:Zfp407	UTSW	18	84,450,545 (GRCm39)	missense	probably damaging	0.99
R0087:Zfp407	UTSW	18	84,578,536 (GRCm39)	missense	probably damaging	1.00
R0243:Zfp407	UTSW	18	84,576,836 (GRCm39)	missense	probably damaging	1.00
R0594:Zfp407	UTSW	18	84,580,692 (GRCm39)	missense	possibly damaging	0.87
R0766:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R0787:Zfp407	UTSW	18	84,227,471 (GRCm39)	missense	probably benign	0.00
R0787:Zfp407	UTSW	18	84,227,147 (GRCm39)	missense	probably damaging	1.00
R1065:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1086:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1165:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1186:Zfp407	UTSW	18	84,227,573 (GRCm39)	missense	probably benign	0.39
R1203:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1312:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1345:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1385:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1421:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1430:Zfp407	UTSW	18	84,227,580 (GRCm39)	missense	probably benign	0.18
R1436:Zfp407	UTSW	18	84,361,196 (GRCm39)	splice site	probably benign
R1498:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1526:Zfp407	UTSW	18	84,579,158 (GRCm39)	missense	possibly damaging	0.61
R1579:Zfp407	UTSW	18	84,227,763 (GRCm39)	missense	probably benign	0.00
R1594:Zfp407	UTSW	18	84,227,456 (GRCm39)	missense	probably benign	0.01
R1628:Zfp407	UTSW	18	84,372,658 (GRCm39)	missense	probably damaging	1.00
R1698:Zfp407	UTSW	18	84,580,282 (GRCm39)	missense	probably damaging	1.00
R1962:Zfp407	UTSW	18	84,577,461 (GRCm39)	missense	probably benign	0.01
R1984:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1985:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R1986:Zfp407	UTSW	18	84,577,898 (GRCm39)	missense	probably benign	0.14
R2151:Zfp407	UTSW	18	84,227,774 (GRCm39)	missense	possibly damaging	0.55
R2152:Zfp407	UTSW	18	84,227,774 (GRCm39)	missense	possibly damaging	0.55
R2154:Zfp407	UTSW	18	84,227,774 (GRCm39)	missense	possibly damaging	0.55
R2259:Zfp407	UTSW	18	84,227,918 (GRCm39)	missense	probably damaging	1.00
R2353:Zfp407	UTSW	18	84,578,005 (GRCm39)	missense	probably damaging	1.00
R2845:Zfp407	UTSW	18	84,576,522 (GRCm39)	nonsense	probably null
R3407:Zfp407	UTSW	18	84,576,997 (GRCm39)	missense	probably benign	0.08
R3432:Zfp407	UTSW	18	84,226,871 (GRCm39)	missense	probably damaging	1.00
R3892:Zfp407	UTSW	18	84,578,477 (GRCm39)	missense	probably damaging	1.00
R4026:Zfp407	UTSW	18	84,577,721 (GRCm39)	missense	possibly damaging	0.82
R4107:Zfp407	UTSW	18	84,361,132 (GRCm39)	missense	possibly damaging	0.82
R4398:Zfp407	UTSW	18	84,580,856 (GRCm39)	nonsense	probably null
R4447:Zfp407	UTSW	18	84,580,819 (GRCm39)	missense	possibly damaging	0.95
R4752:Zfp407	UTSW	18	84,581,039 (GRCm39)	missense	probably benign	0.01
R4881:Zfp407	UTSW	18	84,577,828 (GRCm39)	missense	probably benign	0.27
R4936:Zfp407	UTSW	18	84,577,589 (GRCm39)	missense	probably benign	0.00
R5194:Zfp407	UTSW	18	84,579,434 (GRCm39)	missense	probably benign	0.05
R5243:Zfp407	UTSW	18	84,579,216 (GRCm39)	missense	probably damaging	1.00
R5258:Zfp407	UTSW	18	84,334,051 (GRCm39)	missense	probably damaging	1.00
R5591:Zfp407	UTSW	18	84,579,262 (GRCm39)	missense	probably damaging	1.00
R5633:Zfp407	UTSW	18	84,579,169 (GRCm39)	missense	probably benign	0.35
R5739:Zfp407	UTSW	18	84,226,867 (GRCm39)	makesense	probably null
R5806:Zfp407	UTSW	18	84,576,739 (GRCm39)	missense	probably damaging	1.00
R5820:Zfp407	UTSW	18	84,578,649 (GRCm39)	missense	probably benign	0.01
R6187:Zfp407	UTSW	18	84,577,134 (GRCm39)	missense	possibly damaging	0.87
R6512:Zfp407	UTSW	18	84,578,474 (GRCm39)	missense	probably damaging	1.00
R6521:Zfp407	UTSW	18	84,450,536 (GRCm39)	missense	probably damaging	1.00
R6748:Zfp407	UTSW	18	84,226,955 (GRCm39)	missense	probably damaging	0.98
R6882:Zfp407	UTSW	18	84,361,194 (GRCm39)	splice site	probably null
R6899:Zfp407	UTSW	18	84,579,559 (GRCm39)	missense	possibly damaging	0.86
R7038:Zfp407	UTSW	18	84,579,982 (GRCm39)	missense	probably damaging	1.00
R7076:Zfp407	UTSW	18	84,576,601 (GRCm39)	missense	probably damaging	1.00
R7326:Zfp407	UTSW	18	84,577,167 (GRCm39)	missense	possibly damaging	0.77
R7397:Zfp407	UTSW	18	84,579,944 (GRCm39)	missense	possibly damaging	0.59
R7402:Zfp407	UTSW	18	84,579,661 (GRCm39)	missense	probably benign	0.02
R7783:Zfp407	UTSW	18	84,228,047 (GRCm39)	missense	possibly damaging	0.69
R7800:Zfp407	UTSW	18	84,578,800 (GRCm39)	missense	probably damaging	0.99
R7904:Zfp407	UTSW	18	84,579,381 (GRCm39)	missense	not run
R7942:Zfp407	UTSW	18	84,577,754 (GRCm39)	missense	probably benign	0.02
R7955:Zfp407	UTSW	18	84,577,416 (GRCm39)	missense	probably benign	0.02
R7988:Zfp407	UTSW	18	84,577,525 (GRCm39)	missense	possibly damaging	0.60
R8125:Zfp407	UTSW	18	84,579,310 (GRCm39)	missense	probably damaging	1.00
R8364:Zfp407	UTSW	18	84,570,993 (GRCm39)	critical splice donor site	probably null
R8443:Zfp407	UTSW	18	84,227,987 (GRCm39)	missense	probably damaging	1.00
R8487:Zfp407	UTSW	18	84,580,895 (GRCm39)	nonsense	probably null
R8497:Zfp407	UTSW	18	84,578,021 (GRCm39)	missense	probably damaging	0.98
R8808:Zfp407	UTSW	18	84,361,185 (GRCm39)	missense	probably benign	0.17
R8848:Zfp407	UTSW	18	84,578,819 (GRCm39)	missense	probably damaging	1.00
R8913:Zfp407	UTSW	18	84,578,653 (GRCm39)	missense	probably damaging	0.99
R8962:Zfp407	UTSW	18	84,577,057 (GRCm39)	missense	probably damaging	1.00
R9087:Zfp407	UTSW	18	84,227,982 (GRCm39)	missense	probably damaging	0.96
R9452:Zfp407	UTSW	18	84,580,579 (GRCm39)	missense	probably benign	0.02
R9691:Zfp407	UTSW	18	84,578,312 (GRCm39)	missense	probably benign	0.03
R9766:Zfp407	UTSW	18	84,577,574 (GRCm39)	missense	probably benign	0.06
RF003:Zfp407	UTSW	18	84,227,688 (GRCm39)	missense	probably benign	0.17
Z1177:Zfp407	UTSW	18	84,228,079 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGAGCACTGAACTCACACTG -3'
(R):5'- CGTCATTGTGCCACCAAGAAAC -3'

Sequencing Primer
(F):5'- ATTGTCACTTGAACCTGCAAC -3'
(R):5'- TTGTGCCACCAAGAAACATAAAGG -3'

Posted On

2020-07-13