Mutagenetix > Incidental Mutation

Incidental Mutation 'R0243:Zfp407'

37932

Institutional Source

Beutler Lab

Gene Symbol

Zfp407

Ensembl Gene

ENSMUSG00000048410

Gene Name

zinc finger protein 407

Synonyms

6430585N13Rik, LOC240469, LOC381139

MMRRC Submission

038481-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84128027-84589725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84558711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1426 (M1426L)

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 damaging
Transcript: ENSMUST00000125763
AA Change: M1426L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: M1426L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156181

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182297

Meta Mutation Damage Score

0.0837

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

98% (148/151)

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: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	G	5: 63,898,463	Y181D	probably benign	Het
1110034G24Rik	T	C	2: 132,750,639	V202A	probably benign	Het
1700029H14Rik	A	G	8: 13,554,715	V196A	possibly damaging	Het
2410004B18Rik	A	G	3: 145,938,078	D7G	probably damaging	Het
2810474O19Rik	T	C	6: 149,326,241	Y262H	probably damaging	Het
Acap1	A	G	11: 69,885,426	V249A	probably damaging	Het
Acat2	A	T	17: 12,944,021	D313E	probably benign	Het
Actn4	T	C	7: 28,905,398	T325A	probably benign	Het
Adamdec1	C	T	14: 68,581,958		probably null	Het
Adat2	A	G	10: 13,553,293	T10A	probably benign	Het
Aff4	T	A	11: 53,397,858	S400R	possibly damaging	Het
Agbl2	C	T	2: 90,791,481	P104L	possibly damaging	Het
Alox12	G	T	11: 70,242,716	T594K	possibly damaging	Het
Als2	C	A	1: 59,215,387	K270N	probably benign	Het
Ankhd1	T	A	18: 36,634,734	C1235S	probably damaging	Het
Ankrd24	T	A	10: 81,634,944	I69N	probably damaging	Het
Aox4	G	A	1: 58,213,076	V37I	probably benign	Het
Arfgap3	A	G	15: 83,330,513		probably benign	Het
Arhgef4	T	A	1: 34,806,999		probably null	Het
Asic1	C	T	15: 99,698,617		probably benign	Het
Atp8b5	A	G	4: 43,366,057	N776S	probably benign	Het
Bbs7	A	G	3: 36,605,734	I184T	probably benign	Het
Bbs9	A	T	9: 22,514,001	H117L	probably damaging	Het
Bnip2	T	C	9: 69,995,505	W10R	probably damaging	Het
Brd4	G	T	17: 32,224,123	Q175K	probably benign	Het
Bysl	A	T	17: 47,606,896	V124E	possibly damaging	Het
Cadm3	A	G	1: 173,346,573		probably benign	Het
Cc2d2a	T	C	5: 43,696,638		probably benign	Het
Ccdc134	G	T	15: 82,140,946	E215D	probably damaging	Het
Celsr3	G	T	9: 108,843,724		probably benign	Het
Cntn5	T	A	9: 9,781,775	D428V	probably damaging	Het
Cog1	A	G	11: 113,656,995		probably benign	Het
Col11a2	G	T	17: 34,062,546		probably benign	Het
Cyp4f13	G	A	17: 32,924,969		probably benign	Het
D3Ertd254e	A	G	3: 36,165,154	H442R	possibly damaging	Het
Dffb	T	A	4: 153,965,378	K343*	probably null	Het
Dnah9	T	A	11: 65,911,852	I224F	possibly damaging	Het
Dolk	A	T	2: 30,286,019	C5S	probably benign	Het
Ebf1	A	T	11: 44,869,088		probably benign	Het
Elac1	A	G	18: 73,742,363	L199P	probably damaging	Het
Elmod1	A	C	9: 53,935,547		probably benign	Het
Ep400	A	C	5: 110,724,407		probably benign	Het
F10	A	T	8: 13,048,196	N133I	probably damaging	Het
Fasn	A	G	11: 120,815,315	Y1068H	probably benign	Het
Fbxo24	T	C	5: 137,624,557	E12G	probably damaging	Het
Fer	G	T	17: 64,078,946	L304F	probably benign	Het
Filip1	A	C	9: 79,819,003	L778R	probably damaging	Het
Fli1	A	T	9: 32,423,981	I385N	probably benign	Het
Fpgs	A	T	2: 32,692,494	L89*	probably null	Het
Gab2	T	G	7: 97,299,241	I346R	probably damaging	Het
Gm10764	G	A	10: 87,290,979	G83R	unknown	Het
Gpr83	G	T	9: 14,864,842	C153F	possibly damaging	Het
Gtf3c3	A	G	1: 54,403,536	L783P	possibly damaging	Het
Gys2	A	G	6: 142,472,668		probably benign	Het
Heatr9	C	T	11: 83,513,338	V378I	possibly damaging	Het
Helz	A	T	11: 107,637,914	Y920F	possibly damaging	Het
Inpp5f	A	T	7: 128,695,183	Q459L	probably damaging	Het
Ints12	T	C	3: 133,109,045	S338P	probably benign	Het
Kif13a	T	C	13: 46,791,351	T925A	probably benign	Het
Kif1a	C	T	1: 93,042,093	V1051I	probably damaging	Het
Kif7	T	A	7: 79,699,560	H1119L	possibly damaging	Het
Kmt2d	C	T	15: 98,850,137		probably benign	Het
Krt90	C	T	15: 101,562,675	G51S	possibly damaging	Het
Krtap31-2	A	T	11: 99,936,746	I135F	possibly damaging	Het
Lrp2	T	C	2: 69,428,630	E4572G	probably benign	Het
Mapk8ip1	T	C	2: 92,385,944	E493G	probably damaging	Het
Matk	T	G	10: 81,258,492	L28V	probably benign	Het
Mcc	T	A	18: 44,759,299	T83S	probably benign	Het
Mtch1	A	T	17: 29,340,106	M204K	possibly damaging	Het
Muc4	T	G	16: 32,765,746	C2622G	possibly damaging	Het
Myo5a	G	A	9: 75,186,123		probably null	Het
Myoz3	T	C	18: 60,578,951	Y185C	probably damaging	Het
Nnmt	A	G	9: 48,592,138	V196A	probably benign	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Nup214	T	A	2: 31,998,057		probably benign	Het
Olfr1261	T	A	2: 89,993,806	F138I	probably benign	Het
Olfr1383	T	C	11: 49,523,912	L63P	probably damaging	Het
Olfr169	T	G	16: 19,566,294	E196D	probably damaging	Het
Pank3	T	C	11: 35,781,716		probably benign	Het
Parm1	A	T	5: 91,594,294	N174Y	possibly damaging	Het
Pcgf2	A	T	11: 97,692,418		probably null	Het
Pclo	A	T	5: 14,775,420	K4661M	unknown	Het
Pcsk7	A	C	9: 45,916,059	S375R	probably damaging	Het
Pdzrn4	G	T	15: 92,770,319	S784I	possibly damaging	Het
Pex6	T	A	17: 46,723,737		probably null	Het
Pi4ka	C	T	16: 17,297,635	V1384M	probably benign	Het
Polr3f	T	A	2: 144,536,275		probably benign	Het
Ppp2r3a	A	T	9: 101,212,284	V280E	probably damaging	Het
Prdm14	C	T	1: 13,122,448	G356R	probably damaging	Het
Prepl	A	G	17: 85,065,038		probably null	Het
Primpol	T	C	8: 46,599,814	D154G	probably damaging	Het
Ptchd4	A	C	17: 42,503,416	H736P	probably damaging	Het
Rab11fip1	A	G	8: 27,152,225	S849P	probably damaging	Het
Rap1gap	T	A	4: 137,719,351	D405E	probably damaging	Het
Rbm26	T	C	14: 105,131,938	T686A	probably benign	Het
Rint1	A	G	5: 23,816,932		probably benign	Het
Rnasek	G	T	11: 70,238,440	Y62*	probably null	Het
Rnf17	T	G	14: 56,482,084	N930K	possibly damaging	Het
Sap130	A	G	18: 31,680,681		probably benign	Het
Sectm1b	T	A	11: 121,055,785	I95F	probably damaging	Het
Sema4f	A	T	6: 82,939,466	I53N	possibly damaging	Het
Siglec1	T	C	2: 131,085,476	T137A	probably damaging	Het
Six5	A	C	7: 19,097,022		probably null	Het
Slc22a30	A	T	19: 8,345,357	I345N	probably benign	Het
Slc25a27	A	T	17: 43,643,627	M316K	probably benign	Het
Slc2a8	A	T	2: 32,980,104		probably benign	Het
Snx1	G	A	9: 66,101,326		probably benign	Het
Spag17	A	G	3: 100,085,368	T1727A	probably benign	Het
Spata20	T	C	11: 94,481,646	D633G	probably benign	Het
Spock1	C	T	13: 57,436,109		probably null	Het
Sra1	A	T	18: 36,675,706	Y291*	probably null	Het
Sspo	C	A	6: 48,493,186	P4520T	probably damaging	Het
Stat4	A	G	1: 52,011,857	N25S	probably benign	Het
Tbx18	A	T	9: 87,715,516		probably benign	Het
Tctex1d2	A	G	16: 32,426,887	D118G	probably damaging	Het
Tep1	T	A	14: 50,846,987	I187F	probably damaging	Het
Tfap2b	A	T	1: 19,234,123	I368F	probably damaging	Het
Tmtc1	A	T	6: 148,246,837	L711Q	probably damaging	Het
Tmx3	T	A	18: 90,538,489		probably benign	Het
Tnc	G	T	4: 63,970,420	T1803K	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tpgs1	C	T	10: 79,675,866	P281S	probably benign	Het
Trim45	A	G	3: 100,929,844	R499G	probably benign	Het
Tulp3	A	T	6: 128,325,958	Y299*	probably null	Het
Ube4a	A	T	9: 44,946,178		probably benign	Het
Ubr3	T	G	2: 69,951,405	S642R	probably damaging	Het
Vcpip1	A	T	1: 9,747,206	Y317*	probably null	Het
Vmn1r115	G	A	7: 20,844,402	T195I	probably benign	Het
Vmn1r226	G	A	17: 20,687,577	V24I	probably benign	Het
Wdr41	C	T	13: 95,017,406	A321V	probably damaging	Het
Wfdc5	T	C	2: 164,178,835	N44D	probably benign	Het
Wnt7b	C	A	15: 85,558,902		probably null	Het
Zfp108	T	C	7: 24,261,783	S600P	possibly damaging	Het
Zfp385b	A	G	2: 77,415,728		probably null	Het
Zfp395	T	C	14: 65,386,480	S133P	probably benign	Het
Zfp641	T	G	15: 98,289,127	N191T	possibly damaging	Het
Zfp687	T	C	3: 95,011,553	S303G	probably damaging	Het
Zfp759	T	A	13: 67,138,813	F143I	possibly damaging	Het
Zgrf1	G	C	3: 127,615,446	E1690Q	probably damaging	Het

Other mutations in Zfp407

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Zfp407	APN	18	84561752	missense	probably damaging	0.99
IGL02105:Zfp407	APN	18	84562720	nonsense	probably null
IGL02110:Zfp407	APN	18	84559040	missense	probably benign	0.00
IGL02343:Zfp407	APN	18	84209724	missense	possibly damaging	0.71
IGL02456:Zfp407	APN	18	84558641	missense	probably damaging	1.00
IGL02705:Zfp407	APN	18	84559031	nonsense	probably null
IGL02946:Zfp407	APN	18	84560709	missense	probably damaging	1.00
IGL03069:Zfp407	APN	18	84350975	missense	probably damaging	1.00
IGL03145:Zfp407	APN	18	84209721	missense	probably damaging	0.99
IGL03403:Zfp407	APN	18	84560797	missense	probably damaging	1.00
IGL03134:Zfp407	UTSW	18	84209955	missense	probably damaging	0.99
PIT4362001:Zfp407	UTSW	18	84561268	missense	possibly damaging	0.87
PIT4520001:Zfp407	UTSW	18	84432420	missense	probably damaging	0.99
R0087:Zfp407	UTSW	18	84560411	missense	probably damaging	1.00
R0594:Zfp407	UTSW	18	84562567	missense	possibly damaging	0.87
R0766:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R0787:Zfp407	UTSW	18	84209022	missense	probably damaging	1.00
R0787:Zfp407	UTSW	18	84209346	missense	probably benign	0.00
R1065:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1086:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1165:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1186:Zfp407	UTSW	18	84209448	missense	probably benign	0.39
R1203:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1312:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1345:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1385:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1421:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1430:Zfp407	UTSW	18	84209455	missense	probably benign	0.18
R1436:Zfp407	UTSW	18	84343071	splice site	probably benign
R1498:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1526:Zfp407	UTSW	18	84561033	missense	possibly damaging	0.61
R1579:Zfp407	UTSW	18	84209638	missense	probably benign	0.00
R1594:Zfp407	UTSW	18	84209331	missense	probably benign	0.01
R1628:Zfp407	UTSW	18	84354533	missense	probably damaging	1.00
R1698:Zfp407	UTSW	18	84562157	missense	probably damaging	1.00
R1962:Zfp407	UTSW	18	84559336	missense	probably benign	0.01
R1984:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1985:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R1986:Zfp407	UTSW	18	84559773	missense	probably benign	0.14
R2151:Zfp407	UTSW	18	84209649	missense	possibly damaging	0.55
R2152:Zfp407	UTSW	18	84209649	missense	possibly damaging	0.55
R2154:Zfp407	UTSW	18	84209649	missense	possibly damaging	0.55
R2259:Zfp407	UTSW	18	84209793	missense	probably damaging	1.00
R2353:Zfp407	UTSW	18	84559880	missense	probably damaging	1.00
R2845:Zfp407	UTSW	18	84558397	nonsense	probably null
R3407:Zfp407	UTSW	18	84558872	missense	probably benign	0.08
R3432:Zfp407	UTSW	18	84208746	missense	probably damaging	1.00
R3892:Zfp407	UTSW	18	84560352	missense	probably damaging	1.00
R4026:Zfp407	UTSW	18	84559596	missense	possibly damaging	0.82
R4107:Zfp407	UTSW	18	84343007	missense	possibly damaging	0.82
R4398:Zfp407	UTSW	18	84562731	nonsense	probably null
R4447:Zfp407	UTSW	18	84562694	missense	possibly damaging	0.95
R4752:Zfp407	UTSW	18	84562914	missense	probably benign	0.01
R4881:Zfp407	UTSW	18	84559703	missense	probably benign	0.27
R4936:Zfp407	UTSW	18	84559464	missense	probably benign	0.00
R5194:Zfp407	UTSW	18	84561309	missense	probably benign	0.05
R5243:Zfp407	UTSW	18	84561091	missense	probably damaging	1.00
R5258:Zfp407	UTSW	18	84315926	missense	probably damaging	1.00
R5591:Zfp407	UTSW	18	84561137	missense	probably damaging	1.00
R5633:Zfp407	UTSW	18	84561044	missense	probably benign	0.35
R5739:Zfp407	UTSW	18	84208742	makesense	probably null
R5806:Zfp407	UTSW	18	84558614	missense	probably damaging	1.00
R5820:Zfp407	UTSW	18	84560524	missense	probably benign	0.01
R6187:Zfp407	UTSW	18	84559009	missense	possibly damaging	0.87
R6512:Zfp407	UTSW	18	84560349	missense	probably damaging	1.00
R6521:Zfp407	UTSW	18	84432411	missense	probably damaging	1.00
R6748:Zfp407	UTSW	18	84208830	missense	probably damaging	0.98
R6882:Zfp407	UTSW	18	84343069	splice site	probably null
R6899:Zfp407	UTSW	18	84561434	missense	possibly damaging	0.86
R7038:Zfp407	UTSW	18	84561857	missense	probably damaging	1.00
R7076:Zfp407	UTSW	18	84558476	missense	probably damaging	1.00
R7326:Zfp407	UTSW	18	84559042	missense	possibly damaging	0.77
R7397:Zfp407	UTSW	18	84561819	missense	possibly damaging	0.59
R7402:Zfp407	UTSW	18	84561536	missense	probably benign	0.02
R7783:Zfp407	UTSW	18	84209922	missense	possibly damaging	0.69
R7800:Zfp407	UTSW	18	84560675	missense	probably damaging	0.99
R7904:Zfp407	UTSW	18	84561256	missense	not run
R7942:Zfp407	UTSW	18	84559629	missense	probably benign	0.02
R7955:Zfp407	UTSW	18	84559291	missense	probably benign	0.02
R7988:Zfp407	UTSW	18	84559400	missense	possibly damaging	0.60
R8125:Zfp407	UTSW	18	84561185	missense	probably damaging	1.00
R8237:Zfp407	UTSW	18	84560144	missense	possibly damaging	0.87
R8364:Zfp407	UTSW	18	84552868	critical splice donor site	probably null
R8443:Zfp407	UTSW	18	84209862	missense	probably damaging	1.00
R8487:Zfp407	UTSW	18	84562770	nonsense	probably null
R8497:Zfp407	UTSW	18	84559896	missense	probably damaging	0.98
R8808:Zfp407	UTSW	18	84343060	missense	probably benign	0.17
R8848:Zfp407	UTSW	18	84560694	missense	probably damaging	1.00
R8913:Zfp407	UTSW	18	84560528	missense	probably damaging	0.99
R8962:Zfp407	UTSW	18	84558932	missense	probably damaging	1.00
R9087:Zfp407	UTSW	18	84209857	missense	probably damaging	0.96
R9452:Zfp407	UTSW	18	84562454	missense	probably benign	0.02
R9691:Zfp407	UTSW	18	84560187	missense	probably benign	0.03
R9766:Zfp407	UTSW	18	84559449	missense	probably benign	0.06
RF003:Zfp407	UTSW	18	84209563	missense	probably benign	0.17
Z1177:Zfp407	UTSW	18	84209954	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATTTGAAGGTGGCCCCTCCTTCTG -3'
(R):5'- CCAAGAGAACAACTGGACCTGGATG -3'

Sequencing Primer
(F):5'- GGAAGCTCTTCTACACTGGC -3'
(R):5'- CATTTTGGAAGAGGATGCCCC -3'

Posted On

2013-05-23