Mutagenetix > Incidental Mutation

Incidental Mutation 'R1526:Zfp407'

167477

Institutional Source

Beutler Lab

Gene Symbol

Zfp407

Ensembl Gene

ENSMUSG00000048410

Gene Name

zinc finger protein 407

Synonyms

LOC381139, 6430585N13Rik, LOC240469

MMRRC Submission

039566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84225826-84612815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84579158 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 652 (P652S)

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: P652S

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: P652S

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asap2	G	T	12: 21,235,188 (GRCm39)	A97S	probably damaging	Het
Brd10	T	C	19: 29,712,545 (GRCm39)	K785E	probably damaging	Het
C1qtnf1	A	T	11: 118,334,616 (GRCm39)	E32V	possibly damaging	Het
Ccdc81	A	G	7: 89,525,081 (GRCm39)	L500P	probably damaging	Het
Cdo1	T	C	18: 46,861,130 (GRCm39)	E27G	probably benign	Het
Ceacam5	G	A	7: 17,484,620 (GRCm39)	G454D	probably damaging	Het
Cemip	T	C	7: 83,600,648 (GRCm39)	D991G	probably damaging	Het
Cep170	A	C	1: 176,616,071 (GRCm39)	I79S	probably damaging	Het
Cep19	A	G	16: 31,926,039 (GRCm39)	Q149R	possibly damaging	Het
Cideb	A	T	14: 55,992,619 (GRCm39)	L99*	probably null	Het
Cntnap5a	A	G	1: 116,356,207 (GRCm39)	N746S	probably benign	Het
Col12a1	T	C	9: 79,564,080 (GRCm39)	N1715S	probably benign	Het
Col3a1	T	C	1: 45,360,848 (GRCm39)	S93P	unknown	Het
Csmd3	C	A	15: 47,449,028 (GRCm39)		probably null	Het
Disp3	T	C	4: 148,344,373 (GRCm39)	I510V	probably benign	Het
Drosha	T	A	15: 12,914,070 (GRCm39)	V1115E	probably damaging	Het
Dzip3	A	C	16: 48,757,369 (GRCm39)	L888R	probably damaging	Het
Emx2	C	A	19: 59,452,442 (GRCm39)	A242E	probably benign	Het
Fto	G	A	8: 92,168,314 (GRCm39)	E256K	possibly damaging	Het
Gabrb2	A	C	11: 42,482,715 (GRCm39)	Y191S	possibly damaging	Het
Gm6526	A	T	14: 43,987,394 (GRCm39)	H110L	probably damaging	Het
Grin3b	T	A	10: 79,810,436 (GRCm39)	N647K	probably damaging	Het
Ifit2	T	G	19: 34,550,602 (GRCm39)	S47R	probably benign	Het
Il5ra	A	T	6: 106,712,781 (GRCm39)	V244E	possibly damaging	Het
Inppl1	A	G	7: 101,482,153 (GRCm39)	L141P	probably benign	Het
Iws1	A	G	18: 32,213,178 (GRCm39)	D202G	probably benign	Het
Kctd4	A	C	14: 76,200,523 (GRCm39)	I165L	probably benign	Het
Lrch3	G	A	16: 32,770,746 (GRCm39)	C116Y	probably damaging	Het
Mettl25	T	C	10: 105,668,844 (GRCm39)	T93A	possibly damaging	Het
Mgat4d	A	G	8: 84,095,666 (GRCm39)	I314V	probably benign	Het
Mrgprb4	A	T	7: 47,848,159 (GRCm39)	Y256*	probably null	Het
Myo9b	G	T	8: 71,808,408 (GRCm39)	V1672L	probably damaging	Het
Nek1	C	T	8: 61,502,975 (GRCm39)	P449L	probably benign	Het
Nucb2	G	A	7: 116,123,642 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,919,412 (GRCm39)	Y6864C	probably damaging	Het
Omt2b	A	T	9: 78,235,420 (GRCm39)		probably benign	Het
Or2y3	T	A	17: 38,393,486 (GRCm39)	I128F	probably damaging	Het
Or4p18	C	T	2: 88,232,777 (GRCm39)	C167Y	probably damaging	Het
Or5ac15	G	A	16: 58,940,293 (GRCm39)	L47F	probably damaging	Het
Or6c208	A	G	10: 129,224,176 (GRCm39)	K225E	probably benign	Het
Otogl	G	T	10: 107,705,387 (GRCm39)	P647T	probably damaging	Het
Oxnad1	A	G	14: 31,824,244 (GRCm39)	D271G	probably benign	Het
Pbx3	T	C	2: 34,261,776 (GRCm39)	I53V	probably damaging	Het
Pds5b	T	A	5: 150,639,865 (GRCm39)		probably null	Het
Ppp4r3a	A	T	12: 101,007,000 (GRCm39)	D810E	probably damaging	Het
Ptpro	A	T	6: 137,438,724 (GRCm39)	D1189V	probably damaging	Het
Ryr3	T	C	2: 112,492,002 (GRCm39)	N3758S	probably damaging	Het
Scarb2	G	A	5: 92,594,200 (GRCm39)	T454M	possibly damaging	Het
Sec23a	A	C	12: 59,032,972 (GRCm39)		probably null	Het
Spire2	C	T	8: 124,095,502 (GRCm39)	A535V	probably benign	Het
Svopl	A	T	6: 38,006,570 (GRCm39)	F142L	probably benign	Het
Tas2r144	T	C	6: 42,192,674 (GRCm39)	I138T	probably benign	Het
Tbc1d15	A	G	10: 115,039,135 (GRCm39)	M535T	probably benign	Het
Tnfaip1	C	T	11: 78,420,971 (GRCm39)	V30M	possibly damaging	Het
Topaz1	T	A	9: 122,625,108 (GRCm39)	W1398R	probably damaging	Het
Tpo	A	G	12: 30,134,694 (GRCm39)	S755P	probably damaging	Het
Ttn	G	T	2: 76,606,460 (GRCm39)	S18116R	probably damaging	Het
Vmn2r78	A	G	7: 86,571,465 (GRCm39)		probably null	Het
Wdr49	T	A	3: 75,304,227 (GRCm39)	K494M	probably benign	Het
Yeats2	A	G	16: 20,024,836 (GRCm39)	M697V	probably damaging	Het
Zfp462	A	G	4: 55,009,002 (GRCm39)	M323V	probably benign	Het
Zfp629	G	T	7: 127,209,931 (GRCm39)	P626Q	possibly damaging	Het
Zfp804a	A	T	2: 82,088,532 (GRCm39)	Y787F	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
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
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'- TTCGGGCCTTCCACTTCCAGAAAC -3'
(R):5'- TCAGCACATGACACCTGTCCTCAG -3'

Sequencing Primer
(F):5'- GATAGTCCTGTCCATGTCGAAGC -3'
(R):5'- CCTTGAATGAAACAGGTCTTAGAG -3'

Posted On

2014-04-13