Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Zfp407'

437554

Institutional Source

Beutler Lab

Gene Symbol

Zfp407

Ensembl Gene

ENSMUSG00000048410

Gene Name

zinc finger protein 407

Synonyms

LOC381139, 6430585N13Rik, LOC240469

MMRRC Submission

043269-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84225826-84612815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84579262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 617 (F617S)

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: F617S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: F617S

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

0.0996

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

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
Aldh16a1	T	C	7: 44,794,076 (GRCm39)	E13G	probably null	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Bub1	A	T	2: 127,661,263 (GRCm39)	M276K	probably benign	Het
Casp14	A	T	10: 78,550,179 (GRCm39)	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,822 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,289,521 (GRCm39)	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,029,359 (GRCm39)		probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Daxx	T	C	17: 34,130,662 (GRCm39)	S226P	probably damaging	Het
Gm3676	T	C	14: 41,365,181 (GRCm39)	Y158C	probably benign	Het
Gnai1	A	T	5: 18,476,844 (GRCm39)	I285K	probably benign	Het
Gpr179	C	T	11: 97,236,581 (GRCm39)	V417I	probably benign	Het
Helz2	C	T	2: 180,882,051 (GRCm39)	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,234,059 (GRCm39)	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,417,566 (GRCm39)	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,837,731 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,670,934 (GRCm39)	D221G	probably damaging	Het
Lca5l	T	C	16: 95,979,929 (GRCm39)	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,025,018 (GRCm39)	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,184,060 (GRCm39)		probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,164,681 (GRCm39)	Q958H	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrm3	G	A	11: 76,140,907 (GRCm39)	R305H	probably benign	Het
Mtrex	A	T	13: 113,063,890 (GRCm39)	M1K	probably null	Het
Or10ak7	A	T	4: 118,791,658 (GRCm39)	I127K	probably damaging	Het
Or1j18	A	T	2: 36,625,244 (GRCm39)	I304F	probably benign	Het
Or2aj5	T	A	16: 19,424,608 (GRCm39)	Q270L	probably damaging	Het
Or2ak7	A	G	11: 58,574,951 (GRCm39)	N84S	probably benign	Het
Or2d3c	A	T	7: 106,526,489 (GRCm39)	M59K	probably damaging	Het
Or4c126	A	G	2: 89,823,751 (GRCm39)	T5A	possibly damaging	Het
Or51q1	G	T	7: 103,629,320 (GRCm39)	R307L	probably benign	Het
P3h3	C	T	6: 124,831,658 (GRCm39)		probably benign	Het
Pals2	A	G	6: 50,157,159 (GRCm39)	S276G	probably benign	Het
Plekhg3	C	T	12: 76,607,066 (GRCm39)	S42L	possibly damaging	Het
Polq	A	G	16: 36,832,247 (GRCm39)		probably benign	Het
Pramel16	T	C	4: 143,675,377 (GRCm39)	Y483C	probably damaging	Het
Pramel28	G	T	4: 143,691,530 (GRCm39)	L398I	probably damaging	Het
Raph1	G	A	1: 60,540,905 (GRCm39)		probably benign	Het
Rnf144b	G	A	13: 47,396,430 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,609,900 (GRCm39)	S4309P	probably benign	Het
Sash1	A	T	10: 8,601,482 (GRCm39)	S1158T	probably benign	Het
Sim2	T	C	16: 93,898,048 (GRCm39)	V94A	probably damaging	Het
Sirt5	A	G	13: 43,525,317 (GRCm39)	D42G	possibly damaging	Het
Smarcal1	A	T	1: 72,630,412 (GRCm39)	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,545 (GRCm39)	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,922 (GRCm39)	N1655S	probably benign	Het
Sympk	A	G	7: 18,787,964 (GRCm39)	E1160G	probably damaging	Het
Tmem192	A	G	8: 65,418,254 (GRCm39)	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,540,012 (GRCm39)	M25998L	probably benign	Het
Usp48	A	G	4: 137,379,963 (GRCm39)		probably benign	Het
Vamp4	A	G	1: 162,415,811 (GRCm39)	I71V	possibly damaging	Het
Washc5	C	A	15: 59,241,012 (GRCm39)	D108Y	probably damaging	Het
Wdfy4	T	A	14: 32,829,087 (GRCm39)	H1043L	probably benign	Het
Zcchc14	C	T	8: 122,332,187 (GRCm39)		probably benign	Het
Zfp869	T	A	8: 70,160,342 (GRCm39)	N77I	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
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'- TGCGGCTTACTTGAATGCC -3'
(R):5'- TCCGTCAAGGAGAGACTTGG -3'

Sequencing Primer
(F):5'- ACTTGAATGCCGTGCTTCAG -3'
(R):5'- ACTTGGAGGAGCACGTGCAC -3'

Posted On

2016-10-26