Mutagenetix > Incidental Mutation

Incidental Mutation 'R6414:Zfp799'

514889

Institutional Source

Beutler Lab

Gene Symbol

Zfp799

Ensembl Gene

ENSMUSG00000095253

Gene Name

zinc finger protein 799

Synonyms

6030490I01Rik

MMRRC Submission

044556-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R6414 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33034423-33049235 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33039259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 336 (V336M)

Ref Sequence

ENSEMBL: ENSMUSP00000144480 (fasta)

Gene Model

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

AlphaFold

Q8BHK4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179695
AA Change: V335M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136298
Gene: ENSMUSG00000095253
AA Change: V335M

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

probably damaging
Transcript: ENSMUST00000202988
AA Change: V336M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144480
Gene: ENSMUSG00000095253
AA Change: V336M

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Alpk1	T	C	3: 127,473,858 (GRCm39)	D715G	probably benign	Het
Atg101	T	A	15: 101,188,341 (GRCm39)	C149S	probably benign	Het
Atp2c1	A	T	9: 105,343,855 (GRCm39)	I84N	probably damaging	Het
Ceacam20	C	A	7: 19,710,056 (GRCm39)	A360E	probably damaging	Het
Chd3	A	T	11: 69,243,371 (GRCm39)		probably null	Het
Clcc1	G	A	3: 108,584,167 (GRCm39)	C517Y	possibly damaging	Het
Col6a5	T	C	9: 105,769,465 (GRCm39)		probably null	Het
Ctnna3	T	C	10: 64,096,644 (GRCm39)	V394A	probably benign	Het
Ctsll3	A	G	13: 60,948,113 (GRCm39)	F188S	probably damaging	Het
Cyth4	T	C	15: 78,492,346 (GRCm39)	V125A	probably damaging	Het
Ddx43	G	A	9: 78,308,218 (GRCm39)	V131I	probably benign	Het
Elp4	A	G	2: 105,734,788 (GRCm39)	S16P	possibly damaging	Het
Espl1	T	A	15: 102,223,995 (GRCm39)	V1182E	probably damaging	Het
Fhod3	T	C	18: 25,223,935 (GRCm39)	S1094P	possibly damaging	Het
Fmo6	A	T	1: 162,748,014 (GRCm39)	V350D	probably damaging	Het
Frem1	A	G	4: 82,858,773 (GRCm39)	F1545S	probably damaging	Het
Gata3	T	A	2: 9,863,245 (GRCm39)	H423L	possibly damaging	Het
Golt1a	A	T	1: 133,248,032 (GRCm39)	M87L	probably damaging	Het
Gpr171	A	T	3: 59,005,544 (GRCm39)	V77E	probably damaging	Het
Hectd2	A	G	19: 36,596,186 (GRCm39)	D757G	probably benign	Het
Hmmr	A	G	11: 40,606,694 (GRCm39)		probably null	Het
Il31ra	A	G	13: 112,660,441 (GRCm39)	V635A	possibly damaging	Het
Lama1	T	C	17: 68,053,905 (GRCm39)		probably null	Het
Ltbp4	G	A	7: 27,010,140 (GRCm39)	P1140L	probably damaging	Het
Macf1	A	G	4: 123,386,988 (GRCm39)	L1210P	possibly damaging	Het
Meox2	A	T	12: 37,158,830 (GRCm39)	M1L	probably benign	Het
Mex3d	A	G	10: 80,217,205 (GRCm39)	S671P	unknown	Het
Mrgprb2	C	T	7: 48,202,129 (GRCm39)	V199I	probably benign	Het
Mroh9	A	T	1: 162,902,271 (GRCm39)	V114E	probably damaging	Het
Muc5b	A	G	7: 141,412,834 (GRCm39)	K1927E	unknown	Het
Or4f52	A	C	2: 111,061,497 (GRCm39)		probably null	Het
Or6c35	T	A	10: 129,169,578 (GRCm39)	I276K	probably benign	Het
Otogl	C	T	10: 107,617,911 (GRCm39)	C1734Y	probably damaging	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh15	T	A	10: 74,021,258 (GRCm39)	N162K	probably damaging	Het
Pcdhb10	A	C	18: 37,546,898 (GRCm39)	H658P	possibly damaging	Het
Pgm2l1	G	T	7: 99,904,747 (GRCm39)	A160S	possibly damaging	Het
Prkag2	T	A	5: 25,305,178 (GRCm39)		probably benign	Het
Rap1gap2	A	G	11: 74,296,616 (GRCm39)	L457P	probably damaging	Het
Rasef	C	T	4: 73,658,818 (GRCm39)	V463M	probably benign	Het
Rb1	T	C	14: 73,520,414 (GRCm39)	S42G	unknown	Het
Reep3	C	A	10: 66,875,356 (GRCm39)	V36F	probably damaging	Het
Rhcg	A	G	7: 79,248,716 (GRCm39)		probably null	Het
Sbno1	T	C	5: 124,533,994 (GRCm39)	S661G	probably benign	Het
Slc25a3	T	G	10: 90,958,190 (GRCm39)	Q50P	possibly damaging	Het
Slc2a13	T	A	15: 91,228,008 (GRCm39)	I395F	probably benign	Het
Slc6a5	C	T	7: 49,559,991 (GRCm39)		probably benign	Het
Snta1	G	C	2: 154,219,987 (GRCm39)	T391S	possibly damaging	Het
Spata7	T	C	12: 98,629,479 (GRCm39)		probably null	Het
Stx17	A	G	4: 48,158,809 (GRCm39)		probably null	Het
Terf2	A	T	8: 107,803,486 (GRCm39)	S365T	probably benign	Het
Tmem231	G	A	8: 112,653,524 (GRCm39)		probably benign	Het
Trim8	A	T	19: 46,491,346 (GRCm39)	H155L	probably benign	Het
Wipi2	T	A	5: 142,641,693 (GRCm39)	V83D	probably damaging	Het
Zbtb47	T	G	9: 121,592,725 (GRCm39)	D348E	probably benign	Het
Zfp316	C	A	5: 143,240,639 (GRCm39)	R460L	possibly damaging	Het
Zfp947	A	T	17: 22,365,395 (GRCm39)	I93N	probably damaging	Het
Zranb3	A	G	1: 127,968,694 (GRCm39)	Y74H	probably benign	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
R1487:Zfp799	UTSW	17	33,039,651 (GRCm39)	missense	possibly damaging	0.85
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
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'- GCTTGCATACATAGGGTTTCTCTC -3'
(R):5'- AAGACCTTTGCCCGTTCGAG -3'

Sequencing Primer
(F):5'- CCACTATGCATCAATTCATGGTAC -3'
(R):5'- CTGCTGACGCATGAGAGGATTC -3'

Posted On

2018-05-04