Mutagenetix > Incidental Mutation

Incidental Mutation 'R8808:Zfp407'

672245

Institutional Source

Beutler Lab

Gene Symbol

Zfp407

Ensembl Gene

ENSMUSG00000048410

Gene Name

zinc finger protein 407

Synonyms

LOC381139, 6430585N13Rik, LOC240469

MMRRC Submission

068644-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8808 (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 84361185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1703 (K1703R)

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: K1703R

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118361
Gene: ENSMUSG00000048410
AA Change: K1703R

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

95% (60/63)

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
1110002E22Rik	C	T	3: 137,775,874 (GRCm39)	P1688S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,919 (GRCm39)	T174A	probably benign	Het
Actl10	T	A	2: 154,395,068 (GRCm39)	L340Q	probably damaging	Het
Adra1d	T	C	2: 131,403,397 (GRCm39)	E231G	probably damaging	Het
Agt	T	A	8: 125,291,028 (GRCm39)	D93V	probably benign	Het
Als2cl	G	T	9: 110,718,282 (GRCm39)	R341L	possibly damaging	Het
Ankrd63	G	T	2: 118,533,549 (GRCm39)	A124E	unknown	Het
Aqp8	T	C	7: 123,065,922 (GRCm39)	L239P	probably damaging	Het
Arhgef11	A	G	3: 87,593,336 (GRCm39)	E85G	probably damaging	Het
Cacng4	T	A	11: 107,685,209 (GRCm39)	I28F	possibly damaging	Het
Cc2d1a	T	C	8: 84,861,599 (GRCm39)	D741G	probably damaging	Het
Cct8l1	T	A	5: 25,722,210 (GRCm39)	N308K	possibly damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Chrna5	T	A	9: 54,905,348 (GRCm39)	D53E	probably benign	Het
Dap3	A	T	3: 88,835,514 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,489 (GRCm39)	Y407C	probably damaging	Het
Dnah1	A	G	14: 31,008,771 (GRCm39)	M2001T	probably benign	Het
Dysf	C	G	6: 83,996,466 (GRCm39)		probably benign	Het
Eif2ak1	A	T	5: 143,816,264 (GRCm39)	K187N	probably damaging	Het
Ethe1	T	C	7: 24,294,496 (GRCm39)	S100P	probably damaging	Het
Fam186a	G	C	15: 99,842,604 (GRCm39)	I1213M	possibly damaging	Het
Gbp9	A	G	5: 105,232,875 (GRCm39)	F259S	probably damaging	Het
Heatr5b	G	A	17: 79,072,834 (GRCm39)	H1610Y	possibly damaging	Het
Hk2	T	A	6: 82,705,747 (GRCm39)	D852V	probably benign	Het
Hmcn1	T	A	1: 150,531,570 (GRCm39)	Q3233L	possibly damaging	Het
Htt	T	A	5: 35,046,791 (GRCm39)	V2369E	probably benign	Het
Il9	C	A	13: 56,629,942 (GRCm39)	E35*	probably null	Het
Itga8	A	T	2: 12,137,328 (GRCm39)	C933*	probably null	Het
Jak3	A	G	8: 72,138,164 (GRCm39)	K872E	possibly damaging	Het
Kcnmb2	A	C	3: 32,252,266 (GRCm39)	M156L	probably benign	Het
Kdm4a	C	T	4: 117,999,480 (GRCm39)	V981I	unknown	Het
Klhl38	A	T	15: 58,178,225 (GRCm39)	*582R	probably null	Het
Map3k19	A	G	1: 127,751,866 (GRCm39)	F495S	probably damaging	Het
Mpeg1	T	A	19: 12,440,443 (GRCm39)	W634R	probably damaging	Het
Mrpl4	T	A	9: 20,918,978 (GRCm39)	Y202N	possibly damaging	Het
Nme8	A	G	13: 19,859,978 (GRCm39)	V214A	probably damaging	Het
Or4k36	A	T	2: 111,146,239 (GRCm39)	R138S	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Pcdhgb6	A	G	18: 37,876,451 (GRCm39)	I386M	possibly damaging	Het
Pitpnm1	T	A	19: 4,162,356 (GRCm39)	V1062E	possibly damaging	Het
Plekhm3	G	A	1: 64,922,355 (GRCm39)	R607W	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,855,727 (GRCm39)		probably benign	Het
Prap1	C	A	7: 139,676,982 (GRCm39)	H141Q	probably damaging	Het
Prep	T	A	10: 44,971,252 (GRCm39)	Y187*	probably null	Het
Rergl	T	G	6: 139,478,865 (GRCm39)	E3A	probably benign	Het
Rnf19a	A	T	15: 36,242,021 (GRCm39)	S673T	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
St18	G	A	1: 6,880,826 (GRCm39)	E440K	probably damaging	Het
Syne1	T	A	10: 5,309,074 (GRCm39)	Q645L	probably damaging	Het
Tmcc1	C	A	6: 116,111,099 (GRCm39)	V61L		Het
Tmcc1	A	T	6: 116,111,098 (GRCm39)	V61E		Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Tmem201	C	A	4: 149,814,138 (GRCm39)	R154L	possibly damaging	Het
Tmem71	G	A	15: 66,410,655 (GRCm39)	A239V	possibly damaging	Het
Tpgs2	A	G	18: 25,284,275 (GRCm39)	W78R	probably damaging	Het
Tssc4	T	C	7: 142,623,436 (GRCm39)	V22A	unknown	Het
Ttn	T	A	2: 76,723,128 (GRCm39)	E6496D	unknown	Het
Ttn	T	A	2: 76,697,539 (GRCm39)	L227F		Het
Vps50	G	T	6: 3,522,338 (GRCm39)	G169*	probably null	Het
Yy1	CGGCGACCACGGCGGCGGCGGGGGCG	CGGCG	12: 108,759,506 (GRCm39)		probably benign	Het
Zfp616	T	G	11: 73,976,523 (GRCm39)	C931G	probably damaging	Het
Zfp949	G	A	9: 88,451,417 (GRCm39)	C329Y	probably damaging	Het
Zswim5	T	A	4: 116,822,887 (GRCm39)	D452E	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
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'- AGCTGGAGTTCTTCTGGATTCC -3'
(R):5'- GCCTCTCATCTAACGTGGTC -3'

Sequencing Primer
(F):5'- GGATTCCAATCGACTCTGGTGAC -3'
(R):5'- CCTGTTTGGACAATACATCCTATTC -3'

Posted On

2021-04-30