Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Zfp292'

353497

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.699) question?

Stock #

R4684 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34803113-34882960 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34807078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1994 (T1994A)

Ref Sequence

ENSEMBL: ENSMUSP00000037233 (fasta)

Gene Model

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

AlphaFold

Q9Z2U2

Predicted Effect

probably benign
Transcript: ENSMUST00000047950
AA Change: T1994A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: T1994A

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

probably benign
Transcript: ENSMUST00000098163
AA Change: T1989A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: T1989A

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 46,772,946	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,471,871	I629T	unknown	Het
4933402N03Rik	T	C	7: 131,138,684	R268G	probably damaging	Het
Abca13	A	T	11: 9,434,193	R3882*	probably null	Het
Adamts3	T	G	5: 89,703,007	T558P	probably damaging	Het
Ano2	A	G	6: 125,790,341	N214S	probably benign	Het
Arhgef4	A	T	1: 34,811,785		probably null	Het
Boc	C	T	16: 44,500,380	A306T	probably benign	Het
Capn10	T	C	1: 92,943,781	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,189,256		probably benign	Het
Cobll1	G	T	2: 65,099,028	S688R	possibly damaging	Het
Cpxm2	G	T	7: 132,049,038	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,699,335	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,455,003	Y118N	probably damaging	Het
Dgki	A	T	6: 37,299,846		probably benign	Het
Disp2	A	G	2: 118,792,756	N1323S	probably damaging	Het
Dock1	T	A	7: 134,724,409	Y42*	probably null	Het
Eps8l1	C	A	7: 4,473,945	P471Q	probably damaging	Het
Fam20a	A	C	11: 109,721,687	L10R	unknown	Het
Fpr-rs4	T	A	17: 18,022,184	I151K	probably damaging	Het
Gga1	C	A	15: 78,885,309	P161T	probably damaging	Het
Gm8909	A	T	17: 36,165,858	H241Q	possibly damaging	Het
Gm9923	T	A	10: 72,309,476	Y52*	probably null	Het
Gucy2g	A	G	19: 55,206,256	F910L	probably damaging	Het
Helz	T	C	11: 107,649,145	V315A	probably damaging	Het
Hk2	T	C	6: 82,739,648	Y301C	probably damaging	Het
Htt	C	T	5: 34,852,765	P1521S	probably damaging	Het
Iah1	T	C	12: 21,316,433	M1T	probably null	Het
Ik	T	C	18: 36,752,414	S287P	probably damaging	Het
Itga1	T	A	13: 115,049,370	D32V	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Klk14	A	G	7: 43,691,968	I15V	probably benign	Het
Kng2	T	C	16: 22,987,641	I603V	possibly damaging	Het
Lama1	T	C	17: 67,773,778	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,922,304	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,454,244	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,468,816	N233K	probably benign	Het
Mapk13	T	C	17: 28,770,049	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430	F123L	probably damaging	Het
Mettl7b	G	T	10: 128,960,702	C79*	probably null	Het
Myh4	G	C	11: 67,245,811	D472H	probably damaging	Het
Nipa2	A	T	7: 55,935,826	N121K	probably benign	Het
Nostrin	C	T	2: 69,183,924	T408M	probably benign	Het
Olfr347	A	G	2: 36,734,674	M118V	probably damaging	Het
Olfr725	T	C	14: 50,034,830	D191G	probably damaging	Het
Oosp2	C	T	19: 11,649,653	R102H	probably damaging	Het
Osgin2	T	A	4: 16,001,946	I202L	probably benign	Het
Pbld2	C	A	10: 63,057,697	R271S	probably damaging	Het
Pex6	C	T	17: 46,712,101	T201I	probably benign	Het
Pilra	T	C	5: 137,835,515	I96M	probably damaging	Het
Pllp	T	A	8: 94,677,278	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,762,594	S765G	probably benign	Het
Prkca	A	T	11: 107,961,608	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,664,179	K35*	probably null	Het
Psmc2	A	G	5: 21,803,265	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,441,125	T2387A	probably damaging	Het
Ros1	T	C	10: 52,129,096	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,491,599	T367K	probably benign	Het
Scube2	C	T	7: 109,810,713	R525H	probably damaging	Het
Sec14l4	T	C	11: 4,035,200		probably null	Het
Secisbp2l	T	C	2: 125,745,942	D751G	probably damaging	Het
Setd3	T	C	12: 108,108,690	D402G	probably benign	Het
Slc15a2	T	A	16: 36,757,849	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,196,936	S2P	probably benign	Het
Slfn8	A	T	11: 83,017,506	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,490	I944V	probably benign	Het
Spg11	A	G	2: 122,065,076	F1887S	probably damaging	Het
Sptbn4	T	C	7: 27,364,419	E879G	probably damaging	Het
Sptbn4	A	T	7: 27,366,735	D649E	possibly damaging	Het
Stx5a	C	A	19: 8,743,361	R121S	probably damaging	Het
Tbcd	T	C	11: 121,493,771	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,207,437	D649G	probably benign	Het
Tfam	A	G	10: 71,237,847	S32P	probably benign	Het
Trmt44	C	T	5: 35,558,043	R642H	probably benign	Het
Trpm3	G	A	19: 22,987,781	A1547T	probably benign	Het
Ttll6	T	C	11: 96,153,177	V519A	probably benign	Het
Umodl1	T	C	17: 30,998,114	F1107L	probably benign	Het
Usp5	A	T	6: 124,817,956	V677E	probably damaging	Het
Utp20	A	T	10: 88,807,445	L605*	probably null	Het
Utrn	T	C	10: 12,745,240	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502	L178*	probably null	Het
Vmn2r88	A	T	14: 51,413,334	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,178	V1476A	probably damaging	Het
Vps13b	C	T	15: 35,841,341	H2506Y	probably benign	Het
Vps13b	C	A	15: 35,879,821	T3014K	probably benign	Het
Vps37c	T	C	19: 10,712,768	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,423,385	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,854,407	D162G	possibly damaging	Het
Zfp791	A	G	8: 85,110,930	Y102H	probably benign	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
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
R6752:Zfp292	UTSW	4	34808593	missense	possibly damaging	0.86
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
R8709:Zfp292	UTSW	4	34805982	missense	probably damaging	1.00
R8947:Zfp292	UTSW	4	34811835	missense	probably damaging	1.00
R9099:Zfp292	UTSW	4	34809228	missense	possibly damaging	0.53
R9190:Zfp292	UTSW	4	34819563	missense	probably damaging	1.00
R9256:Zfp292	UTSW	4	34839899	missense	probably benign	0.02
R9371:Zfp292	UTSW	4	34810800	missense	probably damaging	1.00
R9492:Zfp292	UTSW	4	34810794	missense	probably benign	0.12
R9574:Zfp292	UTSW	4	34839460	missense	probably damaging	1.00
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'- TGGGAAACTGGATTCTTTTCCC -3'
(R):5'- AGAAATTCTAATCTCCGGGCACAC -3'

Sequencing Primer
(F):5'- GAAACTGGATTCTTTTCCCGTTTTTC -3'
(R):5'- TAATCTCCGGGCACACTGTCAG -3'

Posted On

2015-10-21