Mutagenetix > Incidental Mutation

Incidental Mutation 'R5621:Zfp292'

441559

Institutional Source

Beutler Lab

Gene Symbol

Zfp292

Ensembl Gene

ENSMUSG00000039967

Gene Name

zinc finger protein 292

Synonyms

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

MMRRC Submission

043279-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R5621 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34803113-34882960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34811703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 447 (R447H)

Ref Sequence

ENSEMBL: ENSMUSP00000095766 (fasta)

Gene Model

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

AlphaFold

Q9Z2U2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047950
AA Change: R452H

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: R452H

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 damaging
Transcript: ENSMUST00000098163
AA Change: R447H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: R447H

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

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	G	17: 85,003,421 (GRCm39)	L417R	probably damaging	Het
Adrm1b	G	A	3: 92,335,664 (GRCm39)	A346V	probably damaging	Het
Als2	A	G	1: 59,231,049 (GRCm39)	V854A	probably benign	Het
Bbox1	C	T	2: 110,122,868 (GRCm39)	W140*	probably null	Het
Ccdc28a	A	T	10: 18,092,016 (GRCm39)	N110K	probably benign	Het
Chrna6	C	T	8: 27,897,068 (GRCm39)	E270K	probably damaging	Het
Cilp	A	G	9: 65,186,073 (GRCm39)	K723E	possibly damaging	Het
Ciz1	C	A	2: 32,261,753 (GRCm39)	A455E	probably damaging	Het
Csmd3	T	G	15: 48,177,374 (GRCm39)	H388P	possibly damaging	Het
Dnajc8	A	G	4: 132,280,563 (GRCm39)		probably benign	Het
Dnase1	G	T	16: 3,856,982 (GRCm39)	C164F	probably benign	Het
Dync2h1	A	T	9: 7,120,909 (GRCm39)	I2126K	possibly damaging	Het
Epha4	G	T	1: 77,491,686 (GRCm39)		probably benign	Het
Fer1l6	T	C	15: 58,430,175 (GRCm39)	C201R	probably damaging	Het
Fgf8	T	C	19: 45,730,821 (GRCm39)	Y68C	probably benign	Het
Gabrb1	A	T	5: 72,266,071 (GRCm39)	I243F	probably damaging	Het
Gpam	A	C	19: 55,067,692 (GRCm39)	S484A	probably damaging	Het
Hectd2	T	A	19: 36,596,151 (GRCm39)	N745K	probably damaging	Het
Hspa13	T	C	16: 75,563,651 (GRCm39)		probably benign	Het
Ints2	A	G	11: 86,133,773 (GRCm39)	F426L	probably benign	Het
Ism1	A	G	2: 139,520,641 (GRCm39)	T18A	probably damaging	Het
Itih2	T	A	2: 10,107,616 (GRCm39)	Q650L	probably benign	Het
Jmjd4	T	C	11: 59,341,219 (GRCm39)	F50S	probably damaging	Het
Kif5b	T	C	18: 6,226,883 (GRCm39)	N125S	probably benign	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Lrfn1	A	G	7: 28,166,261 (GRCm39)	I552V	probably damaging	Het
Mcph1	A	G	8: 18,682,186 (GRCm39)	E441G	probably damaging	Het
Mdn1	T	A	4: 32,716,371 (GRCm39)	H2144Q	possibly damaging	Het
Mms19	A	G	19: 41,954,752 (GRCm39)	S56P	probably benign	Het
Mrgprb3	A	G	7: 48,293,116 (GRCm39)	I145T	probably benign	Het
Myh11	G	A	16: 14,062,719 (GRCm39)	T287I	probably damaging	Het
Npas2	A	G	1: 39,398,794 (GRCm39)	T730A	probably benign	Het
Or4c108	T	C	2: 88,803,810 (GRCm39)	I142V	probably benign	Het
Or4c15b	G	A	2: 89,112,697 (GRCm39)	P281L	probably damaging	Het
Pcdhgb1	A	G	18: 37,815,222 (GRCm39)	E571G	possibly damaging	Het
Pcx	T	A	19: 4,669,195 (GRCm39)	V731E	possibly damaging	Het
Pgm2	T	A	5: 64,269,381 (GRCm39)	Y489*	probably null	Het
Rrp12	T	C	19: 41,868,856 (GRCm39)	T541A	probably benign	Het
Ryr3	C	T	2: 112,731,329 (GRCm39)	W660*	probably null	Het
Sertad2	T	A	11: 20,598,061 (GRCm39)	F86I	possibly damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc22a22	G	T	15: 57,122,547 (GRCm39)	F143L	probably benign	Het
Slc22a28	C	T	19: 8,048,376 (GRCm39)	V424I	probably benign	Het
Slc7a11	T	G	3: 50,393,324 (GRCm39)	K106N	probably damaging	Het
Smgc	A	T	15: 91,728,623 (GRCm39)	D121V	probably damaging	Het
Sphk1	C	T	11: 116,427,192 (GRCm39)		probably benign	Het
Spock3	A	T	8: 63,597,040 (GRCm39)	T118S	probably benign	Het
Stk17b	G	T	1: 53,810,943 (GRCm39)	S54*	probably null	Het
Sycp2	A	G	2: 178,023,711 (GRCm39)	I435T	probably benign	Het
Tm2d3	G	T	7: 65,351,366 (GRCm39)	D207Y	probably damaging	Het
Top2b	A	T	14: 16,387,280 (GRCm38)	N123Y	probably damaging	Het
Unc80	A	G	1: 66,677,202 (GRCm39)	T2044A	possibly damaging	Het
Usp6nl	A	G	2: 6,445,243 (GRCm39)	S407G	probably benign	Het
Vmn1r195	G	A	13: 22,462,559 (GRCm39)	V10I	probably benign	Het

Other mutations in Zfp292

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Zfp292	APN	4	34,808,683 (GRCm39)	missense	probably benign	0.15
IGL00502:Zfp292	APN	4	34,809,775 (GRCm39)	missense	possibly damaging	0.63
IGL00539:Zfp292	APN	4	34,808,790 (GRCm39)	missense	probably damaging	0.98
IGL00676:Zfp292	APN	4	34,807,827 (GRCm39)	missense	probably damaging	0.99
IGL01068:Zfp292	APN	4	34,806,763 (GRCm39)	missense	probably damaging	1.00
IGL01311:Zfp292	APN	4	34,807,961 (GRCm39)	missense	probably benign	0.01
IGL01639:Zfp292	APN	4	34,809,048 (GRCm39)	missense	probably benign	0.04
IGL01688:Zfp292	APN	4	34,807,855 (GRCm39)	missense	possibly damaging	0.93
IGL02345:Zfp292	APN	4	34,809,244 (GRCm39)	missense	possibly damaging	0.94
IGL02444:Zfp292	APN	4	34,808,810 (GRCm39)	missense	possibly damaging	0.87
IGL02548:Zfp292	APN	4	34,805,416 (GRCm39)	missense	probably damaging	1.00
IGL02551:Zfp292	APN	4	34,806,462 (GRCm39)	missense	possibly damaging	0.93
IGL02702:Zfp292	APN	4	34,809,415 (GRCm39)	missense	probably benign	0.14
IGL02715:Zfp292	APN	4	34,819,542 (GRCm39)	missense	probably damaging	1.00
IGL03273:Zfp292	APN	4	34,806,163 (GRCm39)	missense	probably benign	0.00
F5770:Zfp292	UTSW	4	34,806,783 (GRCm39)	missense	possibly damaging	0.85
PIT4362001:Zfp292	UTSW	4	34,807,524 (GRCm39)	missense	probably benign	0.00
R0153:Zfp292	UTSW	4	34,811,185 (GRCm39)	missense	probably benign	0.26
R0184:Zfp292	UTSW	4	34,819,563 (GRCm39)	missense	probably damaging	1.00
R0295:Zfp292	UTSW	4	34,806,281 (GRCm39)	missense	probably damaging	1.00
R0367:Zfp292	UTSW	4	34,808,227 (GRCm39)	missense	probably benign	0.25
R0433:Zfp292	UTSW	4	34,839,959 (GRCm39)	missense	probably damaging	0.99
R0481:Zfp292	UTSW	4	34,810,059 (GRCm39)	missense	probably benign	0.28
R0555:Zfp292	UTSW	4	34,807,194 (GRCm39)	missense	probably damaging	1.00
R0597:Zfp292	UTSW	4	34,807,399 (GRCm39)	missense	probably benign	0.02
R0748:Zfp292	UTSW	4	34,816,424 (GRCm39)	splice site	probably benign
R0782:Zfp292	UTSW	4	34,839,382 (GRCm39)	missense	possibly damaging	0.94
R0834:Zfp292	UTSW	4	34,809,114 (GRCm39)	missense	probably benign	0.00
R0879:Zfp292	UTSW	4	34,811,218 (GRCm39)	missense	probably benign	0.00
R1083:Zfp292	UTSW	4	34,807,569 (GRCm39)	missense	probably damaging	0.98
R1343:Zfp292	UTSW	4	34,805,238 (GRCm39)	missense	probably damaging	0.98
R1498:Zfp292	UTSW	4	34,805,397 (GRCm39)	missense	possibly damaging	0.88
R1714:Zfp292	UTSW	4	34,808,935 (GRCm39)	missense	probably damaging	1.00
R1724:Zfp292	UTSW	4	34,811,237 (GRCm39)	missense	probably damaging	1.00
R1755:Zfp292	UTSW	4	34,811,043 (GRCm39)	missense	probably benign	0.02
R1837:Zfp292	UTSW	4	34,810,264 (GRCm39)	missense	probably damaging	0.98
R1914:Zfp292	UTSW	4	34,805,100 (GRCm39)	missense	possibly damaging	0.92
R1915:Zfp292	UTSW	4	34,805,100 (GRCm39)	missense	possibly damaging	0.92
R1936:Zfp292	UTSW	4	34,807,452 (GRCm39)	missense	probably benign	0.22
R2107:Zfp292	UTSW	4	34,808,593 (GRCm39)	missense	possibly damaging	0.86
R2108:Zfp292	UTSW	4	34,808,593 (GRCm39)	missense	possibly damaging	0.86
R2136:Zfp292	UTSW	4	34,810,266 (GRCm39)	missense	probably benign	0.13
R2182:Zfp292	UTSW	4	34,807,417 (GRCm39)	missense	probably damaging	1.00
R2186:Zfp292	UTSW	4	34,807,962 (GRCm39)	missense	probably benign	0.07
R2306:Zfp292	UTSW	4	34,809,468 (GRCm39)	missense	probably damaging	0.96
R2350:Zfp292	UTSW	4	34,811,281 (GRCm39)	missense	probably damaging	1.00
R2382:Zfp292	UTSW	4	34,806,426 (GRCm39)	missense	possibly damaging	0.91
R2872:Zfp292	UTSW	4	34,808,595 (GRCm39)	missense	probably damaging	1.00
R2872:Zfp292	UTSW	4	34,808,595 (GRCm39)	missense	probably damaging	1.00
R3018:Zfp292	UTSW	4	34,808,814 (GRCm39)	missense	probably damaging	0.99
R3812:Zfp292	UTSW	4	34,810,326 (GRCm39)	missense	probably damaging	0.98
R4006:Zfp292	UTSW	4	34,807,744 (GRCm39)	missense	probably benign	0.00
R4006:Zfp292	UTSW	4	34,809,611 (GRCm39)	missense	possibly damaging	0.62
R4060:Zfp292	UTSW	4	34,810,863 (GRCm39)	missense	probably damaging	1.00
R4062:Zfp292	UTSW	4	34,810,863 (GRCm39)	missense	probably damaging	1.00
R4063:Zfp292	UTSW	4	34,810,863 (GRCm39)	missense	probably damaging	1.00
R4064:Zfp292	UTSW	4	34,810,863 (GRCm39)	missense	probably damaging	1.00
R4207:Zfp292	UTSW	4	34,806,079 (GRCm39)	missense	probably benign	0.04
R4641:Zfp292	UTSW	4	34,807,828 (GRCm39)	missense	probably damaging	0.99
R4684:Zfp292	UTSW	4	34,807,078 (GRCm39)	missense	probably benign	0.00
R4718:Zfp292	UTSW	4	34,819,521 (GRCm39)	missense	possibly damaging	0.92
R4865:Zfp292	UTSW	4	34,819,563 (GRCm39)	missense	probably damaging	1.00
R4870:Zfp292	UTSW	4	34,808,917 (GRCm39)	missense	probably damaging	1.00
R5097:Zfp292	UTSW	4	34,839,878 (GRCm39)	missense	possibly damaging	0.89
R5233:Zfp292	UTSW	4	34,809,755 (GRCm39)	missense	probably damaging	1.00
R5246:Zfp292	UTSW	4	34,805,842 (GRCm39)	missense	possibly damaging	0.76
R5369:Zfp292	UTSW	4	34,807,491 (GRCm39)	missense	possibly damaging	0.89
R5527:Zfp292	UTSW	4	34,806,261 (GRCm39)	missense	probably damaging	1.00
R5770:Zfp292	UTSW	4	34,806,747 (GRCm39)	missense	probably damaging	1.00
R5900:Zfp292	UTSW	4	34,805,125 (GRCm39)	missense	probably damaging	1.00
R5905:Zfp292	UTSW	4	34,819,549 (GRCm39)	missense	probably damaging	1.00
R5994:Zfp292	UTSW	4	34,805,464 (GRCm39)	missense	possibly damaging	0.87
R6028:Zfp292	UTSW	4	34,819,549 (GRCm39)	missense	probably damaging	1.00
R6056:Zfp292	UTSW	4	34,809,784 (GRCm39)	missense	probably damaging	1.00
R6093:Zfp292	UTSW	4	34,811,902 (GRCm39)	missense	probably damaging	1.00
R6126:Zfp292	UTSW	4	34,808,497 (GRCm39)	missense	probably benign	0.13
R6209:Zfp292	UTSW	4	34,809,442 (GRCm39)	missense	probably benign	0.14
R6275:Zfp292	UTSW	4	34,808,883 (GRCm39)	missense	possibly damaging	0.93
R6523:Zfp292	UTSW	4	34,816,301 (GRCm39)	missense	probably benign	0.21
R6747:Zfp292	UTSW	4	34,806,894 (GRCm39)	missense	probably damaging	0.97
R6752:Zfp292	UTSW	4	34,808,593 (GRCm39)	missense	possibly damaging	0.86
R6967:Zfp292	UTSW	4	34,807,812 (GRCm39)	missense	probably damaging	1.00
R7038:Zfp292	UTSW	4	34,816,357 (GRCm39)	missense	probably damaging	1.00
R7056:Zfp292	UTSW	4	34,809,784 (GRCm39)	missense	probably damaging	1.00
R7088:Zfp292	UTSW	4	34,806,796 (GRCm39)	missense	probably damaging	1.00
R7158:Zfp292	UTSW	4	34,808,679 (GRCm39)	missense	probably benign
R7254:Zfp292	UTSW	4	34,819,476 (GRCm39)	missense	probably damaging	0.98
R7350:Zfp292	UTSW	4	34,806,839 (GRCm39)	missense	probably benign
R7378:Zfp292	UTSW	4	34,808,384 (GRCm39)	missense	probably benign	0.26
R7535:Zfp292	UTSW	4	34,811,487 (GRCm39)	missense	probably benign	0.28
R7589:Zfp292	UTSW	4	34,806,777 (GRCm39)	missense	probably damaging	1.00
R7816:Zfp292	UTSW	4	34,809,865 (GRCm39)	missense	probably benign	0.02
R7979:Zfp292	UTSW	4	34,809,198 (GRCm39)	missense	probably benign	0.02
R7997:Zfp292	UTSW	4	34,808,688 (GRCm39)	missense	probably damaging	0.96
R8129:Zfp292	UTSW	4	34,807,386 (GRCm39)	missense	probably damaging	1.00
R8211:Zfp292	UTSW	4	34,806,163 (GRCm39)	missense	probably benign	0.00
R8302:Zfp292	UTSW	4	34,810,893 (GRCm39)	missense	possibly damaging	0.64
R8500:Zfp292	UTSW	4	34,826,691 (GRCm39)	critical splice donor site	probably null
R8709:Zfp292	UTSW	4	34,805,982 (GRCm39)	missense	probably damaging	1.00
R8947:Zfp292	UTSW	4	34,811,835 (GRCm39)	missense	probably damaging	1.00
R9099:Zfp292	UTSW	4	34,809,228 (GRCm39)	missense	possibly damaging	0.53
R9190:Zfp292	UTSW	4	34,819,563 (GRCm39)	missense	probably damaging	1.00
R9256:Zfp292	UTSW	4	34,839,899 (GRCm39)	missense	probably benign	0.02
R9371:Zfp292	UTSW	4	34,810,800 (GRCm39)	missense	probably damaging	1.00
R9492:Zfp292	UTSW	4	34,810,794 (GRCm39)	missense	probably benign	0.12
R9574:Zfp292	UTSW	4	34,839,460 (GRCm39)	missense	probably damaging	1.00
V7580:Zfp292	UTSW	4	34,806,783 (GRCm39)	missense	possibly damaging	0.85
V7581:Zfp292	UTSW	4	34,806,783 (GRCm39)	missense	possibly damaging	0.85
V7582:Zfp292	UTSW	4	34,806,783 (GRCm39)	missense	possibly damaging	0.85
V7583:Zfp292	UTSW	4	34,806,783 (GRCm39)	missense	possibly damaging	0.85
Z1177:Zfp292	UTSW	4	34,811,058 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTTCATCACCAGTATCCATCAG -3'
(R):5'- CTGGAAGTCAAACGTGCTTG -3'

Sequencing Primer
(F):5'- GTATCCATCAGCAGGCCAG -3'
(R):5'- AAGTCAAACGTGCTTGTCAGTTGAG -3'

Posted On

2016-11-08