Mutagenetix > Incidental Mutations

Incidental Mutation 'R6752:Zfp292'

530821

Institutional Source

Beutler Lab

Gene Symbol

Zfp292

Ensembl Gene

ENSMUSG00000039967

Gene Name

zinc finger protein 292

Synonyms

Zn-16, 5730450D02Rik, Zfp15, Zn-15, Zfp-15, 9430062L07Rik, Krox-10

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.782) question?

Stock #

R6752 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34803113-34882960 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34808593 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 1484 (F1484V)

Ref Sequence

ENSEMBL: ENSMUSP00000095766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047950] [ENSMUST00000098163]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047950
AA Change: F1489V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: F1489V

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
low complexity region	101	120	N/A	INTRINSIC
low complexity region	512	523	N/A	INTRINSIC
ZnF_C2H2	540	561	5.12e1	SMART
ZnF_C2H2	567	589	4.72e-2	SMART
low complexity region	649	664	N/A	INTRINSIC
ZnF_C2H2	681	705	3.52e-1	SMART
ZnF_C2H2	722	744	1.53e-1	SMART
ZnF_C2H2	750	774	1.62e0	SMART
ZnF_C2H2	779	803	1.08e1	SMART
ZnF_C2H2	807	831	1.95e-3	SMART
low complexity region	1062	1078	N/A	INTRINSIC
ZnF_C2H2	1085	1110	7.67e-2	SMART
ZnF_C2H2	1361	1381	1.93e2	SMART
low complexity region	1606	1618	N/A	INTRINSIC
ZnF_C2H2	1879	1904	4.4e-2	SMART
ZnF_C2H2	1924	1949	5.42e-2	SMART
low complexity region	2004	2014	N/A	INTRINSIC
low complexity region	2024	2037	N/A	INTRINSIC
coiled coil region	2050	2072	N/A	INTRINSIC
ZnF_C2H2	2091	2116	4.45e0	SMART
low complexity region	2121	2143	N/A	INTRINSIC
ZnF_C2H2	2149	2174	1.64e-1	SMART
ZnF_C2H2	2193	2218	3.24e0	SMART
ZnF_C2H2	2233	2258	1.18e-2	SMART
low complexity region	2301	2314	N/A	INTRINSIC
ZnF_C2H2	2362	2386	2.86e-1	SMART
low complexity region	2589	2605	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098163
AA Change: F1484V

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: F1484V

Domain	Start	End	E-Value	Type
low complexity region	19	39	N/A	INTRINSIC
low complexity region	101	120	N/A	INTRINSIC
low complexity region	507	518	N/A	INTRINSIC
ZnF_C2H2	535	556	5.12e1	SMART
ZnF_C2H2	562	584	4.72e-2	SMART
low complexity region	644	659	N/A	INTRINSIC
ZnF_C2H2	676	700	3.52e-1	SMART
ZnF_C2H2	717	739	1.53e-1	SMART
ZnF_C2H2	745	769	1.62e0	SMART
ZnF_C2H2	774	798	1.08e1	SMART
ZnF_C2H2	802	826	1.95e-3	SMART
low complexity region	1057	1073	N/A	INTRINSIC
ZnF_C2H2	1080	1105	7.67e-2	SMART
ZnF_C2H2	1356	1376	1.93e2	SMART
low complexity region	1601	1613	N/A	INTRINSIC
ZnF_C2H2	1874	1899	4.4e-2	SMART
ZnF_C2H2	1919	1944	5.42e-2	SMART
low complexity region	1999	2009	N/A	INTRINSIC
low complexity region	2019	2032	N/A	INTRINSIC
coiled coil region	2045	2067	N/A	INTRINSIC
ZnF_C2H2	2086	2111	4.45e0	SMART
low complexity region	2116	2138	N/A	INTRINSIC
ZnF_C2H2	2144	2169	1.64e-1	SMART
ZnF_C2H2	2188	2213	3.24e0	SMART
ZnF_C2H2	2228	2253	1.18e-2	SMART
low complexity region	2296	2309	N/A	INTRINSIC
ZnF_C2H2	2357	2381	2.86e-1	SMART
low complexity region	2584	2600	N/A	INTRINSIC

Meta Mutation Damage Score

0.0894

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,195,483	L45S	probably benign	Het
Agbl2	G	A	2: 90,803,074	C518Y	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Aox1	T	C	1: 58,047,239	I101T	probably benign	Het
Arhgap23	T	C	11: 97,452,248	F241S	probably damaging	Het
Asmt	A	G	X: 170,676,361	M202V	probably benign	Het
Atp6v0a2	A	G	5: 124,641,514	E189G	probably damaging	Het
Birc3	G	A	9: 7,857,344	A376V	probably benign	Het
Ccbe1	C	T	18: 66,076,307		probably null	Het
Chst2	C	A	9: 95,404,749	E515*	probably null	Het
Col12a1	A	T	9: 79,633,424	N2426K	possibly damaging	Het
Dmrt2	A	G	19: 25,678,342	N435S	probably damaging	Het
Dnah14	A	G	1: 181,593,452	K123E	probably benign	Het
Dock4	T	A	12: 40,820,617	L1452Q	probably damaging	Het
Galnt7	G	A	8: 57,652,951	R10C	probably damaging	Het
Gm16506	A	G	14: 43,727,419	I22T	unknown	Het
H2-Q6	A	G	17: 35,428,127	T292A	probably damaging	Het
Ifne	A	G	4: 88,880,082	M33T	probably benign	Het
Igf2r	G	A	17: 12,714,944	R808W	probably damaging	Het
Igfbp5	T	C	1: 72,863,909	E169G	probably damaging	Het
Inppl1	G	A	7: 101,832,542	R198*	probably null	Het
Irgm1	T	C	11: 48,866,463	T174A	probably damaging	Het
Itih3	C	T	14: 30,923,489	G21S	possibly damaging	Het
Klra4	G	T	6: 130,062,028	Q134K	probably benign	Het
Mfsd1	T	A	3: 67,596,603	Y309*	probably null	Het
Mrps10	A	G	17: 47,377,815	N162S	probably damaging	Het
Mtmr14	T	C	6: 113,240,397	F90S	probably damaging	Het
Myh15	A	G	16: 49,182,927	D1783G	probably damaging	Het
Myo3b	A	G	2: 70,289,512	E972G	probably damaging	Het
Myt1	G	T	2: 181,801,082	V455F	probably damaging	Het
Nbea	T	A	3: 55,968,309	T1647S	probably benign	Het
Nbea	A	T	3: 56,037,219	S575T	probably benign	Het
Ntn4	A	G	10: 93,734,175	N466S	probably benign	Het
Olfr1113	A	G	2: 87,213,044	M51V	probably benign	Het
Olfr1468-ps1	T	A	19: 13,375,526	L188H	unknown	Het
Olfr197	T	A	16: 59,186,331	N51Y	probably damaging	Het
Pcdhgb4	T	A	18: 37,720,651	I33N	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pom121l2	T	G	13: 21,981,769	F70C	probably damaging	Het
Psmb5	T	C	14: 54,616,755	T89A	probably benign	Het
Rab11fip2	T	C	19: 59,907,043	D471G	probably damaging	Het
Rnh1	A	G	7: 141,163,441	V207A	probably benign	Het
Sh3tc2	C	A	18: 61,961,037	T49N	probably benign	Het
Skint4	T	C	4: 112,119,863	M158T	possibly damaging	Het
Skint7	T	A	4: 111,980,266	H80Q	probably benign	Het
Smg1	A	G	7: 118,163,316		probably benign	Het
Sostdc1	T	C	12: 36,314,412	V40A	probably benign	Het
Sptlc1	C	A	13: 53,335,358	K437N	possibly damaging	Het
Stat2	T	C	10: 128,283,753	F503L	probably damaging	Het
Syt16	A	T	12: 74,229,213		probably null	Het
Tspyl1	T	C	10: 34,282,587	S103P	probably benign	Het
Ube4a	A	T	9: 44,925,948	S1053R	probably damaging	Het
Vipr1	A	G	9: 121,653,893	N58S	probably damaging	Het
Zfp184	C	A	13: 21,959,408	A428E	probably damaging	Het
Zfp599	G	A	9: 22,249,544	H442Y	probably damaging	Het
Zfp944	G	A	17: 22,339,519	T249I	probably benign	Het
Zkscan14	T	A	5: 145,195,506	H405L	probably damaging	Het

Other mutations in Zfp292

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Zfp292	APN	4	34808683	missense	probably benign	0.15
IGL00502:Zfp292	APN	4	34809775	missense	possibly damaging	0.63
IGL00539:Zfp292	APN	4	34808790	missense	probably damaging	0.98
IGL00676:Zfp292	APN	4	34807827	missense	probably damaging	0.99
IGL01068:Zfp292	APN	4	34806763	missense	probably damaging	1.00
IGL01311:Zfp292	APN	4	34807961	missense	probably benign	0.01
IGL01639:Zfp292	APN	4	34809048	missense	probably benign	0.04
IGL01688:Zfp292	APN	4	34807855	missense	possibly damaging	0.93
IGL02345:Zfp292	APN	4	34809244	missense	possibly damaging	0.94
IGL02444:Zfp292	APN	4	34808810	missense	possibly damaging	0.87
IGL02548:Zfp292	APN	4	34805416	missense	probably damaging	1.00
IGL02551:Zfp292	APN	4	34806462	missense	possibly damaging	0.93
IGL02702:Zfp292	APN	4	34809415	missense	probably benign	0.14
IGL02715:Zfp292	APN	4	34819542	missense	probably damaging	1.00
IGL03273:Zfp292	APN	4	34806163	missense	probably benign	0.00
F5770:Zfp292	UTSW	4	34806783	missense	possibly damaging	0.85
PIT4362001:Zfp292	UTSW	4	34807524	missense	probably benign	0.00
R0153:Zfp292	UTSW	4	34811185	missense	probably benign	0.26
R0184:Zfp292	UTSW	4	34819563	missense	probably damaging	1.00
R0295:Zfp292	UTSW	4	34806281	missense	probably damaging	1.00
R0367:Zfp292	UTSW	4	34808227	missense	probably benign	0.25
R0433:Zfp292	UTSW	4	34839959	missense	probably damaging	0.99
R0481:Zfp292	UTSW	4	34810059	missense	probably benign	0.28
R0555:Zfp292	UTSW	4	34807194	missense	probably damaging	1.00
R0597:Zfp292	UTSW	4	34807399	missense	probably benign	0.02
R0748:Zfp292	UTSW	4	34816424	splice site	probably benign
R0782:Zfp292	UTSW	4	34839382	missense	possibly damaging	0.94
R0834:Zfp292	UTSW	4	34809114	missense	probably benign	0.00
R0879:Zfp292	UTSW	4	34811218	missense	probably benign	0.00
R1083:Zfp292	UTSW	4	34807569	missense	probably damaging	0.98
R1343:Zfp292	UTSW	4	34805238	missense	probably damaging	0.98
R1498:Zfp292	UTSW	4	34805397	missense	possibly damaging	0.88
R1714:Zfp292	UTSW	4	34808935	missense	probably damaging	1.00
R1724:Zfp292	UTSW	4	34811237	missense	probably damaging	1.00
R1755:Zfp292	UTSW	4	34811043	missense	probably benign	0.02
R1837:Zfp292	UTSW	4	34810264	missense	probably damaging	0.98
R1914:Zfp292	UTSW	4	34805100	missense	possibly damaging	0.92
R1915:Zfp292	UTSW	4	34805100	missense	possibly damaging	0.92
R1936:Zfp292	UTSW	4	34807452	missense	probably benign	0.22
R2107:Zfp292	UTSW	4	34808593	missense	possibly damaging	0.86
R2108:Zfp292	UTSW	4	34808593	missense	possibly damaging	0.86
R2136:Zfp292	UTSW	4	34810266	missense	probably benign	0.13
R2182:Zfp292	UTSW	4	34807417	missense	probably damaging	1.00
R2186:Zfp292	UTSW	4	34807962	missense	probably benign	0.07
R2306:Zfp292	UTSW	4	34809468	missense	probably damaging	0.96
R2350:Zfp292	UTSW	4	34811281	missense	probably damaging	1.00
R2382:Zfp292	UTSW	4	34806426	missense	possibly damaging	0.91
R2872:Zfp292	UTSW	4	34808595	missense	probably damaging	1.00
R2872:Zfp292	UTSW	4	34808595	missense	probably damaging	1.00
R3018:Zfp292	UTSW	4	34808814	missense	probably damaging	0.99
R3812:Zfp292	UTSW	4	34810326	missense	probably damaging	0.98
R4006:Zfp292	UTSW	4	34807744	missense	probably benign	0.00
R4006:Zfp292	UTSW	4	34809611	missense	possibly damaging	0.62
R4060:Zfp292	UTSW	4	34810863	missense	probably damaging	1.00
R4062:Zfp292	UTSW	4	34810863	missense	probably damaging	1.00
R4063:Zfp292	UTSW	4	34810863	missense	probably damaging	1.00
R4064:Zfp292	UTSW	4	34810863	missense	probably damaging	1.00
R4207:Zfp292	UTSW	4	34806079	missense	probably benign	0.04
R4641:Zfp292	UTSW	4	34807828	missense	probably damaging	0.99
R4684:Zfp292	UTSW	4	34807078	missense	probably benign	0.00
R4718:Zfp292	UTSW	4	34819521	missense	possibly damaging	0.92
R4865:Zfp292	UTSW	4	34819563	missense	probably damaging	1.00
R4870:Zfp292	UTSW	4	34808917	missense	probably damaging	1.00
R5097:Zfp292	UTSW	4	34839878	missense	possibly damaging	0.89
R5233:Zfp292	UTSW	4	34809755	missense	probably damaging	1.00
R5246:Zfp292	UTSW	4	34805842	missense	possibly damaging	0.76
R5369:Zfp292	UTSW	4	34807491	missense	possibly damaging	0.89
R5527:Zfp292	UTSW	4	34806261	missense	probably damaging	1.00
R5621:Zfp292	UTSW	4	34811703	missense	probably damaging	0.98
R5770:Zfp292	UTSW	4	34806747	missense	probably damaging	1.00
R5900:Zfp292	UTSW	4	34805125	missense	probably damaging	1.00
R5905:Zfp292	UTSW	4	34819549	missense	probably damaging	1.00
R5994:Zfp292	UTSW	4	34805464	missense	possibly damaging	0.87
R6028:Zfp292	UTSW	4	34819549	missense	probably damaging	1.00
R6056:Zfp292	UTSW	4	34809784	missense	probably damaging	1.00
R6093:Zfp292	UTSW	4	34811902	missense	probably damaging	1.00
R6126:Zfp292	UTSW	4	34808497	missense	probably benign	0.13
R6209:Zfp292	UTSW	4	34809442	missense	probably benign	0.14
R6275:Zfp292	UTSW	4	34808883	missense	possibly damaging	0.93
R6523:Zfp292	UTSW	4	34816301	missense	probably benign	0.21
R6747:Zfp292	UTSW	4	34806894	missense	probably damaging	0.97
R6967:Zfp292	UTSW	4	34807812	missense	probably damaging	1.00
R7038:Zfp292	UTSW	4	34816357	missense	probably damaging	1.00
R7056:Zfp292	UTSW	4	34809784	missense	probably damaging	1.00
R7088:Zfp292	UTSW	4	34806796	missense	probably damaging	1.00
R7158:Zfp292	UTSW	4	34808679	missense	probably benign
R7254:Zfp292	UTSW	4	34819476	missense	probably damaging	0.98
R7350:Zfp292	UTSW	4	34806839	missense	probably benign
R7378:Zfp292	UTSW	4	34808384	missense	probably benign	0.26
R7535:Zfp292	UTSW	4	34811487	missense	probably benign	0.28
R7589:Zfp292	UTSW	4	34806777	missense	probably damaging	1.00
R7816:Zfp292	UTSW	4	34809865	missense	probably benign	0.02
R7979:Zfp292	UTSW	4	34809198	missense	probably benign	0.02
R7997:Zfp292	UTSW	4	34808688	missense	probably damaging	0.96
R8129:Zfp292	UTSW	4	34807386	missense	probably damaging	1.00
R8211:Zfp292	UTSW	4	34806163	missense	probably benign	0.00
R8302:Zfp292	UTSW	4	34810893	missense	possibly damaging	0.64
R8500:Zfp292	UTSW	4	34826691	critical splice donor site	probably null
V7580:Zfp292	UTSW	4	34806783	missense	possibly damaging	0.85
V7581:Zfp292	UTSW	4	34806783	missense	possibly damaging	0.85
V7582:Zfp292	UTSW	4	34806783	missense	possibly damaging	0.85
V7583:Zfp292	UTSW	4	34806783	missense	possibly damaging	0.85
Z1177:Zfp292	UTSW	4	34811058	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAACTGTTACATTCTTTGAGG -3'
(R):5'- GCAGTAAATATGCAACAGCCG -3'

Sequencing Primer
(F):5'- AACTGTTACATTCTTTGAGGGTTTTG -3'
(R):5'- GCCGCAACAGTCTAACTTTAATC -3'

Posted On

2018-08-01