Mutagenetix > Incidental Mutation

Incidental Mutation 'R1487:Zfp799'

163564

Institutional Source

Beutler Lab

Gene Symbol

Zfp799

Ensembl Gene

ENSMUSG00000095253

Gene Name

zinc finger protein 799

Synonyms

6030490I01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R1487 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33034423-33049235 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 33039651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 204 (T204N)

Ref Sequence

ENSEMBL: ENSMUSP00000136298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179695] [ENSMUST00000201499] [ENSMUST00000201876] [ENSMUST00000202759] [ENSMUST00000202988]

AlphaFold

Q8BHK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179695
AA Change: T204N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136298
Gene: ENSMUSG00000095253
AA Change: T204N

Domain	Start	End	E-Value	Type
KRAB	3	60	1.22e-9	SMART
low complexity region	97	110	N/A	INTRINSIC
ZnF_C2H2	194	216	1.2e-3	SMART
ZnF_C2H2	222	244	1.28e-3	SMART
ZnF_C2H2	250	272	4.87e-4	SMART
ZnF_C2H2	278	300	9.08e-4	SMART
ZnF_C2H2	306	328	2.27e-4	SMART
ZnF_C2H2	334	356	1.53e-1	SMART
ZnF_C2H2	360	382	4.34e-1	SMART
ZnF_C2H2	388	410	1.84e-4	SMART
ZnF_C2H2	416	438	9.58e-3	SMART
ZnF_C2H2	444	466	6.32e-3	SMART
ZnF_C2H2	472	494	2.95e-3	SMART
ZnF_C2H2	500	522	2.2e-2	SMART
ZnF_C2H2	528	550	1.56e-2	SMART
ZnF_C2H2	556	578	2.4e-3	SMART
ZnF_C2H2	584	606	2.53e-2	SMART
ZnF_C2H2	612	634	4.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181318

Predicted Effect

probably benign
Transcript: ENSMUST00000201499

SMART Domains

Protein: ENSMUSP00000143907
Gene: ENSMUSG00000095253

Domain	Start	End	E-Value	Type
KRAB	4	61	1.22e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201876

SMART Domains

Protein: ENSMUSP00000144187
Gene: ENSMUSG00000095253

Domain	Start	End	E-Value	Type
KRAB	4	61	5.3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202759

SMART Domains

Protein: ENSMUSP00000144087
Gene: ENSMUSG00000095253

Domain	Start	End	E-Value	Type
KRAB	4	63	5.6e-11	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202988
AA Change: T205N

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144480
Gene: ENSMUSG00000095253
AA Change: T205N

Domain	Start	End	E-Value	Type
KRAB	4	61	1.22e-9	SMART
low complexity region	98	111	N/A	INTRINSIC
ZnF_C2H2	195	217	1.2e-3	SMART
ZnF_C2H2	223	245	1.28e-3	SMART
ZnF_C2H2	251	273	4.87e-4	SMART
ZnF_C2H2	279	301	9.08e-4	SMART
ZnF_C2H2	307	329	2.27e-4	SMART
ZnF_C2H2	335	357	1.53e-1	SMART
ZnF_C2H2	361	383	4.34e-1	SMART
ZnF_C2H2	389	411	1.84e-4	SMART
ZnF_C2H2	417	439	9.58e-3	SMART
ZnF_C2H2	445	467	6.32e-3	SMART
ZnF_C2H2	473	495	2.95e-3	SMART
ZnF_C2H2	501	523	2.2e-2	SMART
ZnF_C2H2	529	551	1.56e-2	SMART
ZnF_C2H2	557	579	2.4e-3	SMART
ZnF_C2H2	585	607	2.53e-2	SMART
ZnF_C2H2	613	635	4.47e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	A	C	6: 146,854,877 (GRCm39)	V55G	probably benign	Het
Abhd13	A	G	8: 10,037,402 (GRCm39)		probably benign	Het
Arid5b	T	A	10: 67,933,044 (GRCm39)	K953*	probably null	Het
Armh3	A	C	19: 45,928,882 (GRCm39)		probably null	Het
B4galt6	A	G	18: 20,839,571 (GRCm39)	V121A	possibly damaging	Het
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Calu	A	G	6: 29,366,955 (GRCm39)	I208V	probably benign	Het
Cd14	T	C	18: 36,858,537 (GRCm39)	N306S	probably benign	Het
Cdc16	T	A	8: 13,821,445 (GRCm39)	N415K	probably benign	Het
Cfap57	C	A	4: 118,471,978 (GRCm39)	V134F	probably benign	Het
Chrna2	C	T	14: 66,380,812 (GRCm39)	A27V	probably benign	Het
Chtf18	T	C	17: 25,939,583 (GRCm39)	K67R	probably benign	Het
Clock	T	C	5: 76,414,201 (GRCm39)		probably null	Het
Cplane1	C	T	15: 8,215,715 (GRCm39)	R424W	probably damaging	Het
Eif4g1	G	A	16: 20,497,623 (GRCm39)		probably benign	Het
Eps8l2	A	T	7: 140,941,531 (GRCm39)	M601L	probably benign	Het
Fat4	A	G	3: 39,050,066 (GRCm39)	E3976G	possibly damaging	Het
Flrt3	T	A	2: 140,502,854 (GRCm39)	H258L	probably damaging	Het
Flt4	C	A	11: 49,523,971 (GRCm39)	T517K	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gipc1	C	T	8: 84,387,808 (GRCm39)	Q63*	probably null	Het
Gm17079	A	T	14: 51,930,542 (GRCm39)		probably null	Het
Gucy2c	T	A	6: 136,725,824 (GRCm39)	I375F	possibly damaging	Het
Hps4	C	T	5: 112,525,865 (GRCm39)	Q629*	probably null	Het
Hunk	A	G	16: 90,183,525 (GRCm39)	Y61C	probably damaging	Het
Itga6	T	C	2: 71,673,584 (GRCm39)	S873P	possibly damaging	Het
Kcnc1	A	G	7: 46,047,298 (GRCm39)	H66R	possibly damaging	Het
Kcnc1	T	C	7: 46,084,772 (GRCm39)		probably null	Het
Khdc3	A	G	9: 73,009,846 (GRCm39)	T19A	probably benign	Het
Kmt2a	T	C	9: 44,745,287 (GRCm39)		probably benign	Het
Lipe	C	T	7: 25,084,240 (GRCm39)	A615T	possibly damaging	Het
Lrguk	A	T	6: 34,039,295 (GRCm39)	M269L	probably benign	Het
Lrrc18	A	G	14: 32,730,640 (GRCm39)	N60D	probably damaging	Het
Magi1	T	C	6: 93,685,060 (GRCm39)	T773A	probably benign	Het
Map3k14	T	A	11: 103,116,163 (GRCm39)	D755V	possibly damaging	Het
Mecom	T	C	3: 30,034,213 (GRCm39)	T488A	probably damaging	Het
Mmp10	T	G	9: 7,509,978 (GRCm39)	W473G	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,434 (GRCm39)	V275I	probably benign	Het
Myo7a	A	C	7: 97,703,017 (GRCm39)		probably null	Het
Nadsyn1	C	T	7: 143,360,662 (GRCm39)	V369I	probably benign	Het
Nptxr	C	A	15: 79,674,104 (GRCm39)	G424V	probably damaging	Het
Nrg2	C	T	18: 36,185,965 (GRCm39)	G258E	possibly damaging	Het
Nup210	G	A	6: 91,019,558 (GRCm39)	P221S	probably damaging	Het
Odad2	A	T	18: 7,273,245 (GRCm39)	Y282N	probably damaging	Het
Or52a33	T	A	7: 103,288,801 (GRCm39)	H182L	probably damaging	Het
Or6c208	T	C	10: 129,224,209 (GRCm39)	F236L	probably benign	Het
Oxct1	A	G	15: 4,177,057 (GRCm39)	D477G	possibly damaging	Het
Pcdh8	G	T	14: 80,006,987 (GRCm39)	D525E	probably damaging	Het
Phldb2	A	G	16: 45,609,387 (GRCm39)	S740P	probably damaging	Het
Prss54	A	G	8: 96,286,276 (GRCm39)	S266P	probably benign	Het
Ptprh	T	A	7: 4,555,737 (GRCm39)	I741F	probably damaging	Het
Rab11fip1	G	T	8: 27,644,240 (GRCm39)	S515Y	probably damaging	Het
Recql4	T	A	15: 76,593,183 (GRCm39)	N309I	probably benign	Het
Sec24a	T	C	11: 51,622,713 (GRCm39)	T388A	possibly damaging	Het
Setd6	T	A	8: 96,444,556 (GRCm39)	L83H	probably damaging	Het
Slc6a12	G	A	6: 121,340,716 (GRCm39)	W534*	probably null	Het
St14	C	T	9: 31,008,476 (GRCm39)	C488Y	probably damaging	Het
Supt16	A	G	14: 52,414,065 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,814,460 (GRCm39)	Y1968C	probably damaging	Het
Tcaim	T	A	9: 122,647,897 (GRCm39)	Y137*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpm3	A	T	3: 89,997,389 (GRCm39)		probably null	Het
Trip12	A	T	1: 84,746,352 (GRCm39)	N475K	probably damaging	Het
Twnk	G	T	19: 44,996,815 (GRCm39)		probably null	Het
Zfp287	T	C	11: 62,616,115 (GRCm39)	K192R	probably damaging	Het

Other mutations in Zfp799

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01667:Zfp799	APN	17	33,040,794 (GRCm39)	missense	possibly damaging	0.73
P0016:Zfp799	UTSW	17	33,038,331 (GRCm39)	missense	possibly damaging	0.79
R0116:Zfp799	UTSW	17	33,040,009 (GRCm39)	missense	possibly damaging	0.96
R0326:Zfp799	UTSW	17	33,039,700 (GRCm39)	missense	possibly damaging	0.73
R1863:Zfp799	UTSW	17	33,038,374 (GRCm39)	missense	probably damaging	1.00
R1929:Zfp799	UTSW	17	33,040,777 (GRCm39)	missense	probably damaging	1.00
R1983:Zfp799	UTSW	17	33,041,084 (GRCm39)	missense	probably damaging	1.00
R2127:Zfp799	UTSW	17	33,038,472 (GRCm39)	missense	possibly damaging	0.80
R2271:Zfp799	UTSW	17	33,040,777 (GRCm39)	missense	probably damaging	1.00
R2697:Zfp799	UTSW	17	33,039,214 (GRCm39)	nonsense	probably null
R5134:Zfp799	UTSW	17	33,039,415 (GRCm39)	missense	probably damaging	1.00
R5613:Zfp799	UTSW	17	33,038,964 (GRCm39)	missense	probably damaging	0.98
R5839:Zfp799	UTSW	17	33,041,086 (GRCm39)	missense	probably null	0.99
R6389:Zfp799	UTSW	17	33,039,552 (GRCm39)	missense	probably damaging	1.00
R6414:Zfp799	UTSW	17	33,039,259 (GRCm39)	missense	probably damaging	1.00
R6475:Zfp799	UTSW	17	33,039,820 (GRCm39)	missense	probably damaging	0.99
R6593:Zfp799	UTSW	17	33,038,764 (GRCm39)	missense	probably damaging	1.00
R7133:Zfp799	UTSW	17	33,039,210 (GRCm39)	missense	probably benign	0.19
R7543:Zfp799	UTSW	17	33,039,534 (GRCm39)	missense	probably benign	0.11
R7883:Zfp799	UTSW	17	33,039,256 (GRCm39)	missense	probably damaging	1.00
R7889:Zfp799	UTSW	17	33,038,473 (GRCm39)	nonsense	probably null
R8090:Zfp799	UTSW	17	33,039,949 (GRCm39)	missense	probably benign	0.04
R8726:Zfp799	UTSW	17	33,039,166 (GRCm39)	missense	probably damaging	1.00
R8899:Zfp799	UTSW	17	33,039,348 (GRCm39)	missense	probably damaging	1.00
R9030:Zfp799	UTSW	17	33,039,565 (GRCm39)	missense	possibly damaging	0.70
R9052:Zfp799	UTSW	17	33,039,786 (GRCm39)	missense	probably benign	0.00
R9310:Zfp799	UTSW	17	33,039,733 (GRCm39)	missense	possibly damaging	0.57
R9430:Zfp799	UTSW	17	33,039,186 (GRCm39)	missense	probably damaging	0.99
R9643:Zfp799	UTSW	17	33,039,435 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp799	UTSW	17	33,039,190 (GRCm39)	nonsense	probably null
Z1177:Zfp799	UTSW	17	33,049,195 (GRCm39)	start gained	probably benign
Z1177:Zfp799	UTSW	17	33,049,193 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCACACTGCTTACACATATAGGGC -3'
(R):5'- CGAAGGTCATCAGCGTGCAGAAATC -3'

Sequencing Primer
(F):5'- gcttacacatatagggcttctcac -3'
(R):5'- ATCTTTAACTGGACCCCAGAGTG -3'

Posted On

2014-03-28