Mutagenetix > Incidental Mutation

Incidental Mutation 'R0412:Zfp639'

36703

Institutional Source

Beutler Lab

Gene Symbol

Zfp639

Ensembl Gene

ENSMUSG00000027667

Gene Name

zinc finger protein 639

Synonyms

6230400O18Rik

MMRRC Submission

038614-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R0412 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

32564408-32574982 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32571259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 47 (Q47P)

Ref Sequence

ENSEMBL: ENSMUSP00000141341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029203] [ENSMUST00000191783] [ENSMUST00000192985] [ENSMUST00000193119] [ENSMUST00000193287]

AlphaFold

Q99KZ6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029203
AA Change: Q47P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029203
Gene: ENSMUSG00000027667
AA Change: Q47P

Domain	Start	End	E-Value	Type
ZnF_C2H2	204	227	2.49e-1	SMART
ZnF_C2H2	233	255	8.09e-1	SMART
ZnF_C2H2	260	283	1.16e-1	SMART
ZnF_C2H2	289	311	2.14e0	SMART
ZnF_C2H2	317	340	3.47e0	SMART
ZnF_C2H2	374	397	3.29e-1	SMART
ZnF_C2H2	403	425	2.71e-2	SMART
ZnF_C2H2	431	454	2.86e-1	SMART
ZnF_C2H2	460	482	1.67e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191783
AA Change: Q47P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141446
Gene: ENSMUSG00000027667
AA Change: Q47P

Domain	Start	End	E-Value	Type
ZnF_C2H2	204	227	2.49e-1	SMART
ZnF_C2H2	233	255	8.09e-1	SMART
ZnF_C2H2	260	283	1.16e-1	SMART
ZnF_C2H2	289	311	2.14e0	SMART
ZnF_C2H2	317	340	3.47e0	SMART
ZnF_C2H2	374	397	3.29e-1	SMART
ZnF_C2H2	403	425	2.71e-2	SMART
ZnF_C2H2	431	454	2.86e-1	SMART
ZnF_C2H2	460	482	1.67e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192741

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192985
AA Change: Q3P

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193119
AA Change: Q47P

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000193287
AA Change: Q47P

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141341
Gene: ENSMUSG00000027667
AA Change: Q47P

Domain	Start	End	E-Value	Type
ZnF_C2H2	204	227	2.49e-1	SMART
ZnF_C2H2	233	255	8.09e-1	SMART
ZnF_C2H2	260	283	1.16e-1	SMART
ZnF_C2H2	289	311	2.14e0	SMART
ZnF_C2H2	317	340	3.47e0	SMART
ZnF_C2H2	374	397	3.29e-1	SMART
ZnF_C2H2	403	425	2.71e-2	SMART
ZnF_C2H2	431	454	2.86e-1	SMART
ZnF_C2H2	460	482	1.67e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193290

Predicted Effect

unknown
Transcript: ENSMUST00000193789
AA Change: Q10P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194126

Meta Mutation Damage Score

0.5386

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.2%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	C	A	7: 101,039,429 (GRCm39)	A563D	probably damaging	Het
Arhgap28	G	A	17: 68,203,253 (GRCm39)	L67F	probably damaging	Het
Atp7b	G	T	8: 22,485,675 (GRCm39)		probably null	Het
Auts2	A	G	5: 131,475,669 (GRCm39)	F485L	probably benign	Het
Ccdc68	A	G	18: 70,093,510 (GRCm39)	E239G	probably damaging	Het
Cdc42bpg	T	G	19: 6,363,487 (GRCm39)	L449R	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Ddx41	G	T	13: 55,678,421 (GRCm39)	S630Y	probably damaging	Het
Dntt	T	C	19: 41,031,372 (GRCm39)	L274P	probably damaging	Het
Fhl4	G	T	10: 84,934,680 (GRCm39)	H34N	possibly damaging	Het
Filip1	A	T	9: 79,727,571 (GRCm39)	N349K	possibly damaging	Het
Gm9894	C	T	13: 67,913,145 (GRCm39)		noncoding transcript	Het
Gpr179	A	G	11: 97,229,633 (GRCm39)	S841P	probably damaging	Het
Gpr35	G	T	1: 92,910,506 (GRCm39)	V73L	probably benign	Het
Grik5	A	G	7: 24,713,099 (GRCm39)	V809A	possibly damaging	Het
H2-T13	T	A	17: 36,392,413 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,283 (GRCm39)	T451A	probably benign	Het
Hmcn2	G	A	2: 31,278,259 (GRCm39)	V1654M	probably damaging	Het
Htra3	G	T	5: 35,828,409 (GRCm39)	A157E	probably damaging	Het
Igf2r	A	T	17: 12,902,835 (GRCm39)	V2405D	probably damaging	Het
Irs3	C	A	5: 137,642,139 (GRCm39)	R433L	probably benign	Het
Kcmf1	G	A	6: 72,825,224 (GRCm39)	Q239*	probably null	Het
Kcnk9	A	G	15: 72,384,905 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,530,091 (GRCm39)	V622A	probably benign	Het
Klrb1f	A	T	6: 129,031,294 (GRCm39)	I164F	probably benign	Het
Lama2	A	G	10: 27,066,621 (GRCm39)	S1087P	possibly damaging	Het
Mchr1	A	T	15: 81,119,948 (GRCm39)		probably benign	Het
Mcidas	A	G	13: 113,135,677 (GRCm39)	T367A	probably damaging	Het
Mphosph8	A	C	14: 56,911,870 (GRCm39)	K298Q	probably damaging	Het
Mroh2a	G	T	1: 88,162,938 (GRCm39)	Q360H	probably benign	Het
Mst1	A	C	9: 107,960,793 (GRCm39)	D461A	probably benign	Het
Nckap1l	A	T	15: 103,373,079 (GRCm39)	S311C	probably benign	Het
Or2y1	T	A	11: 49,385,594 (GRCm39)	V78E	probably damaging	Het
Or4c125	T	A	2: 89,170,422 (GRCm39)	M75L	probably benign	Het
Or5m9b	C	T	2: 85,905,435 (GRCm39)	A117V	probably benign	Het
Or8c11	A	C	9: 38,290,090 (GRCm39)	K298N	probably damaging	Het
Pde3a	T	G	6: 141,444,410 (GRCm39)	C1073G	probably damaging	Het
Pkhd1	T	C	1: 20,188,012 (GRCm39)	D3432G	probably damaging	Het
Ppargc1b	G	T	18: 61,448,932 (GRCm39)	P130Q	probably damaging	Het
Ppp6r1	A	G	7: 4,645,213 (GRCm39)	I228T	probably damaging	Het
Pram1	A	G	17: 33,860,480 (GRCm39)	N349S	probably benign	Het
Ranbp6	C	T	19: 29,789,483 (GRCm39)	V290I	possibly damaging	Het
Rcan3	A	T	4: 135,143,914 (GRCm39)		probably null	Het
Scn8a	G	C	15: 100,906,187 (GRCm39)		probably benign	Het
Slc12a5	C	T	2: 164,835,982 (GRCm39)	T900M	probably benign	Het
Srsf10	A	G	4: 135,585,714 (GRCm39)	Y55C	probably damaging	Het
Syt7	G	T	19: 10,421,444 (GRCm39)	E450*	probably null	Het
Tbrg4	T	C	11: 6,573,832 (GRCm39)	K130R	probably benign	Het
Tgm7	C	A	2: 120,931,546 (GRCm39)	V206F	probably damaging	Het
Tmem131l	T	C	3: 83,938,955 (GRCm39)	D67G	probably damaging	Het
Ttc7	A	G	17: 87,637,472 (GRCm39)	K409R	probably benign	Het
Unc80	A	T	1: 66,590,096 (GRCm39)		probably benign	Het
Vmn1r171	C	T	7: 23,332,080 (GRCm39)	L102F	possibly damaging	Het
Vmn2r59	A	C	7: 41,695,916 (GRCm39)		probably benign	Het
Vsig2	A	G	9: 37,453,986 (GRCm39)	R191G	probably damaging	Het
Wdr86	T	A	5: 24,923,232 (GRCm39)	Q153H	probably benign	Het
Wdr87-ps	C	G	7: 29,229,995 (GRCm39)		noncoding transcript	Het
Xxylt1	T	A	16: 30,826,616 (GRCm39)	N233I	probably damaging	Het
Zfp160	A	T	17: 21,247,139 (GRCm39)	E563V	probably damaging	Het
Zfp345	T	A	2: 150,315,323 (GRCm39)	E71D	probably benign	Het
Zfp541	A	G	7: 15,816,099 (GRCm39)	D862G	possibly damaging	Het

Other mutations in Zfp639

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Zfp639	APN	3	32,573,902 (GRCm39)	splice site	probably null
IGL00571:Zfp639	APN	3	32,574,068 (GRCm39)	missense	probably damaging	0.99
IGL00579:Zfp639	APN	3	32,574,626 (GRCm39)	missense	probably damaging	0.98
IGL01952:Zfp639	APN	3	32,569,496 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Zfp639	UTSW	3	32,574,409 (GRCm39)	missense	possibly damaging	0.46
R1195:Zfp639	UTSW	3	32,573,345 (GRCm39)	missense	possibly damaging	0.92
R1195:Zfp639	UTSW	3	32,573,345 (GRCm39)	missense	possibly damaging	0.92
R1195:Zfp639	UTSW	3	32,573,345 (GRCm39)	missense	possibly damaging	0.92
R2906:Zfp639	UTSW	3	32,573,900 (GRCm39)	missense	probably damaging	0.99
R4660:Zfp639	UTSW	3	32,574,679 (GRCm39)	missense	probably damaging	0.99
R5109:Zfp639	UTSW	3	32,574,585 (GRCm39)	splice site	probably null
R6012:Zfp639	UTSW	3	32,573,271 (GRCm39)	missense	probably damaging	1.00
R6321:Zfp639	UTSW	3	32,571,237 (GRCm39)	missense	probably damaging	1.00
R6449:Zfp639	UTSW	3	32,573,810 (GRCm39)	missense	possibly damaging	0.92
R7020:Zfp639	UTSW	3	32,574,261 (GRCm39)	missense	probably damaging	0.98
R8034:Zfp639	UTSW	3	32,574,215 (GRCm39)	missense	probably damaging	0.99
R9098:Zfp639	UTSW	3	32,573,885 (GRCm39)	missense	probably damaging	0.98
R9596:Zfp639	UTSW	3	32,574,269 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCGGCCCACTTAAAGCTGAATG -3'
(R):5'- ATCAGCACTCCAGGCTGAGACAAG -3'

Sequencing Primer
(F):5'- ggggtataggtcagagtagagg -3'
(R):5'- CGCAAACTACCTTTTCGGATAG -3'

Posted On

2013-05-09