Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Zfp799'

449827

Institutional Source

Beutler Lab

Gene Symbol

Zfp799

Ensembl Gene

ENSMUSG00000095253

Gene Name

zinc finger protein 799

Synonyms

6030490I01Rik

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

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

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33034423-33049235 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33041086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 31 (D31G)

Ref Sequence

ENSEMBL: ENSMUSP00000143907 (fasta)

Gene Model

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

AlphaFold

Q8BHK4

Predicted Effect

probably null
Transcript: ENSMUST00000179695
AA Change: D30G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000136298
Gene: ENSMUSG00000095253
AA Change: D30G

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 null
Transcript: ENSMUST00000201499
AA Change: D31G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143907
Gene: ENSMUSG00000095253
AA Change: D31G

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

Predicted Effect

probably null
Transcript: ENSMUST00000201876
AA Change: D31G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144187
Gene: ENSMUSG00000095253
AA Change: D31G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202759
AA Change: D31G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144087
Gene: ENSMUSG00000095253
AA Change: D31G

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

Predicted Effect

probably null
Transcript: ENSMUST00000202988
AA Change: D31G

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144480
Gene: ENSMUSG00000095253
AA Change: D31G

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

Meta Mutation Damage Score

0.4976

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Wasf1	T	A	10: 40,812,315 (GRCm39)	V368E	unknown	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	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
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'- TTCACAGTAGAAAGTGATTCCACC -3'
(R):5'- GAATAAGGCCATGACTTGAACAC -3'

Sequencing Primer
(F):5'- AGTGATTCCACCTGACTTATTAACC -3'
(R):5'- GCCATGACTTGAACACATGTG -3'

Posted On

2016-12-20