Mutagenetix > Incidental Mutation

Incidental Mutation 'R9452:Zfp407'

714365

Institutional Source

Beutler Lab

Gene Symbol

Zfp407

Ensembl Gene

ENSMUSG00000048410

Gene Name

zinc finger protein 407

Synonyms

LOC381139, 6430585N13Rik, LOC240469

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84225826-84612815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84580579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 178 (L178P)

Ref Sequence

ENSEMBL: ENSMUSP00000118361 (fasta)

Gene Model

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

AlphaFold

G3UVV3

Predicted Effect

probably benign
Transcript: ENSMUST00000125450

Predicted Effect

probably benign
Transcript: ENSMUST00000125763
AA Change: L178P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: L178P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,612,382 (GRCm39)	Y564C	probably null	Het
Ablim2	A	T	5: 36,015,198 (GRCm39)	D470V	probably benign	Het
Actr10	T	C	12: 71,006,818 (GRCm39)		probably null	Het
Adam4	T	A	12: 81,467,071 (GRCm39)	I517L	probably benign	Het
Ank1	C	A	8: 23,622,429 (GRCm39)	D1659E	probably benign	Het
Arnt2	A	G	7: 83,933,334 (GRCm39)	V308A	probably benign	Het
Avl9	T	C	6: 56,706,726 (GRCm39)	V184A	probably damaging	Het
Bag1	A	T	4: 40,947,733 (GRCm39)	I157N	probably benign	Het
Bicc1	A	T	10: 70,792,981 (GRCm39)	D224E	probably damaging	Het
C2	T	G	17: 35,095,319 (GRCm39)	I209L	probably benign	Het
Cacna1e	A	T	1: 154,289,720 (GRCm39)		probably null	Het
Capn1	T	C	19: 6,057,287 (GRCm39)	Y387C	probably damaging	Het
Cebpa	A	G	7: 34,819,033 (GRCm39)	I64V	possibly damaging	Het
Celf4	T	G	18: 25,624,219 (GRCm39)	M436L	probably benign	Het
Cfb	C	A	17: 35,078,084 (GRCm39)	V436L	probably benign	Het
Ciart	C	T	3: 95,788,527 (GRCm39)	C104Y	probably benign	Het
Cmya5	A	G	13: 93,232,394 (GRCm39)	L898P	probably benign	Het
Cyp2c68	A	T	19: 39,687,833 (GRCm39)	M388K	possibly damaging	Het
Cypt12	T	C	3: 18,002,843 (GRCm39)	V72A	probably benign	Het
Dlec1	A	G	9: 118,941,541 (GRCm39)	D309G	probably benign	Het
Dnah1	A	G	14: 31,018,448 (GRCm39)	V1394A	probably benign	Het
Dpp3	A	C	19: 4,973,750 (GRCm39)	S108A	probably benign	Het
Eif5b	C	T	1: 38,084,861 (GRCm39)	P903S	probably damaging	Het
Erc2	A	G	14: 27,733,690 (GRCm39)	D580G	probably damaging	Het
Fam98c	A	G	7: 28,852,901 (GRCm39)	V44A	probably benign	Het
Fer	A	G	17: 64,231,067 (GRCm39)	K273E	probably benign	Het
Gzme	T	A	14: 56,355,854 (GRCm39)	I153F	probably benign	Het
Ice1	A	T	13: 70,744,462 (GRCm39)	N2040K	probably damaging	Het
Ifi214	G	T	1: 173,356,894 (GRCm39)	Q70K	possibly damaging	Het
Itpripl1	C	A	2: 126,983,334 (GRCm39)	E263*	probably null	Het
Kat8	A	G	7: 127,524,421 (GRCm39)	K433R	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lefty1	A	T	1: 180,762,849 (GRCm39)	T59S	probably benign	Het
Lig3	C	T	11: 82,681,448 (GRCm39)	T481M	probably damaging	Het
Lrfn1	A	T	7: 28,159,157 (GRCm39)	I359F	probably damaging	Het
Lrp1b	A	T	2: 41,850,726 (GRCm39)	C90*	probably null	Het
Micall2	T	G	5: 139,703,311 (GRCm39)		probably null	Het
Mtmr3	G	T	11: 4,441,037 (GRCm39)	L539I	probably damaging	Het
Obscn	C	A	11: 58,924,962 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,575 (GRCm39)	T269A	probably benign	Het
Oprl1	C	T	2: 181,360,454 (GRCm39)	A170V	possibly damaging	Het
Or4c112	C	T	2: 88,854,234 (GRCm39)	G38R		Het
Pdgfrb	G	A	18: 61,198,798 (GRCm39)	V319M	possibly damaging	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Pkd2	T	C	5: 104,614,841 (GRCm39)	F228L	probably damaging	Het
Pkhd1	T	A	1: 20,682,953 (GRCm39)	D83V	possibly damaging	Het
Plcl1	A	G	1: 55,734,992 (GRCm39)	D111G	probably damaging	Het
Plpp2	A	G	10: 79,363,702 (GRCm39)	S162P	probably damaging	Het
Prex2	T	A	1: 11,256,151 (GRCm39)	I1174K	probably benign	Het
Prkdc	T	A	16: 15,485,465 (GRCm39)	Y431N	possibly damaging	Het
Pter	A	G	2: 12,985,111 (GRCm39)	D147G	probably benign	Het
Rbsn	T	C	6: 92,178,745 (GRCm39)	D134G	possibly damaging	Het
Rnf220	T	C	4: 117,153,339 (GRCm39)	D299G	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Scn2a	G	A	2: 65,595,163 (GRCm39)	S2004N	probably benign	Het
Slc7a4	T	A	16: 17,391,271 (GRCm39)	N593I	probably damaging	Het
Spata31e3	T	C	13: 50,400,808 (GRCm39)	H506R	possibly damaging	Het
Speg	T	C	1: 75,399,152 (GRCm39)	S2200P	probably benign	Het
Thoc2l	T	A	5: 104,669,610 (GRCm39)	N1377K	probably benign	Het
Tle1	A	T	4: 72,040,596 (GRCm39)	H654Q	probably benign	Het
Ttll6	G	A	11: 96,026,588 (GRCm39)	R124H	probably damaging	Het
Vmn2r111	A	G	17: 22,778,132 (GRCm39)	C516R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,288 (GRCm39)	S213P	probably damaging	Het
Vmn2r-ps158	A	T	7: 42,697,257 (GRCm39)	L771F	possibly damaging	Het
Washc4	A	G	10: 83,396,387 (GRCm39)	N399S	probably benign	Het
Wdr37	G	A	13: 8,897,663 (GRCm39)	H198Y		Het
Zfp882	C	T	8: 72,668,831 (GRCm39)	H553Y	probably damaging	Het
Zfp956	T	C	6: 47,940,370 (GRCm39)	V243A	probably benign	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
R8237:Zfp407	UTSW	18	84,578,269 (GRCm39)	missense	possibly damaging	0.87
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
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'- TCACAGGAAAAGACTTTCTGCG -3'
(R):5'- GAGGCCTTTCCAGCAAACTG -3'

Sequencing Primer
(F):5'- GAAAAGACTTTCTGCGGCCCATG -3'
(R):5'- AGAAGGAGGCAGCGCTCTTC -3'

Posted On

2022-06-15