Mutagenetix > Incidental Mutation

Incidental Mutation 'R6967:Zfp292'

542039

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

045077-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R6967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34803113-34882960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34807812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1744 (M1744K)

Ref Sequence

ENSEMBL: ENSMUSP00000095766 (fasta)

Gene Model

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

AlphaFold

Q9Z2U2

Predicted Effect

probably damaging
Transcript: ENSMUST00000047950
AA Change: M1749K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: M1749K

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: M1744K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: M1744K

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	A	G	7: 103,708,212 (GRCm39)	I199T	probably benign	Het
Adam23	T	G	1: 63,602,495 (GRCm39)		probably null	Het
Adamts8	C	T	9: 30,865,787 (GRCm39)	T445I	probably benign	Het
Ahi1	T	C	10: 20,864,524 (GRCm39)	V752A	probably damaging	Het
Arfgef1	T	C	1: 10,223,903 (GRCm39)	Q1465R	probably damaging	Het
Arfgef1	G	T	1: 10,223,904 (GRCm39)	Q1465K	probably damaging	Het
Bicra	T	C	7: 15,706,130 (GRCm39)	E1437G	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,998 (GRCm39)	S131N	possibly damaging	Het
Ces1f	G	A	8: 93,994,625 (GRCm39)	P262L	probably benign	Het
Chrna2	A	T	14: 66,388,398 (GRCm39)		probably null	Het
Cspg4	G	A	9: 56,797,420 (GRCm39)	V1295M	possibly damaging	Het
D5Ertd579e	T	C	5: 36,773,100 (GRCm39)	T432A	probably benign	Het
Dach1	A	T	14: 98,140,633 (GRCm39)	S456R	probably damaging	Het
Dhx37	T	C	5: 125,499,231 (GRCm39)	D659G	probably benign	Het
Dscaml1	T	C	9: 45,585,821 (GRCm39)	V586A	probably damaging	Het
Efhb	G	T	17: 53,770,196 (GRCm39)	L38I	probably benign	Het
Fbxw10	T	C	11: 62,738,429 (GRCm39)	S108P	possibly damaging	Het
Fmnl2	A	G	2: 52,987,344 (GRCm39)	N313S	possibly damaging	Het
Gga3	T	C	11: 115,482,102 (GRCm39)	E172G	probably damaging	Het
Ggta1	A	G	2: 35,292,734 (GRCm39)	V191A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Hcn4	C	T	9: 58,731,228 (GRCm39)	T145M	unknown	Het
Kirrel3	T	C	9: 34,946,202 (GRCm39)	S654P	probably damaging	Het
Klrb1	A	T	6: 128,687,486 (GRCm39)		probably null	Het
Krt15	T	A	11: 100,025,339 (GRCm39)	D166V	probably damaging	Het
Lipk	T	A	19: 34,017,794 (GRCm39)	Y277*	probably null	Het
Ly6g	A	C	15: 75,030,398 (GRCm39)	N49T	possibly damaging	Het
Ms4a4c	A	T	19: 11,392,191 (GRCm39)	Q4L	probably benign	Het
Nfya	A	C	17: 48,699,932 (GRCm39)		probably benign	Het
Nub1	T	C	5: 24,913,709 (GRCm39)	V530A	probably benign	Het
Ocln	A	T	13: 100,675,796 (GRCm39)	Y232*	probably null	Het
Or10ag59	A	G	2: 87,405,857 (GRCm39)	N143S	possibly damaging	Het
Or2r2	A	G	6: 42,463,947 (GRCm39)	F60S	probably damaging	Het
Or4d2b	C	T	11: 87,780,324 (GRCm39)	V133I	probably benign	Het
Or5b114-ps1	A	G	19: 13,352,815 (GRCm39)	H163R	unknown	Het
Otogl	G	A	10: 107,649,911 (GRCm39)	A1148V	probably benign	Het
Paqr5	C	T	9: 61,880,113 (GRCm39)	W46*	probably null	Het
Psd2	C	A	18: 36,113,385 (GRCm39)	L286M	probably damaging	Het
Ptpn4	A	T	1: 119,612,311 (GRCm39)	Y27*	probably null	Het
Ripk2	A	G	4: 16,158,275 (GRCm39)		probably null	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sbk2	C	T	7: 4,967,146 (GRCm39)		probably null	Het
Sec16a	G	A	2: 26,320,498 (GRCm39)	R1361C	probably damaging	Het
Sspo	A	C	6: 48,466,728 (GRCm39)	D4072A	probably benign	Het
St6galnac3	T	C	3: 152,912,345 (GRCm39)	Y214C	probably damaging	Het
Sugp1	T	A	8: 70,513,202 (GRCm39)	D256E	possibly damaging	Het
Sugt1	A	G	14: 79,834,847 (GRCm39)	Y90C	probably benign	Het
Taok2	A	G	7: 126,469,564 (GRCm39)	I1088T	probably damaging	Het
Tasor2	A	T	13: 3,624,819 (GRCm39)	D1710E	probably benign	Het
Tmc7	T	A	7: 118,146,901 (GRCm39)	T459S	probably benign	Het
Tmed11	T	C	5: 108,926,780 (GRCm39)	Y164C	probably damaging	Het
Tmem275	A	G	4: 115,755,491 (GRCm39)	T97A	unknown	Het
Tmem63b	T	C	17: 45,977,558 (GRCm39)	E356G	probably benign	Het
Ttc13	T	C	8: 125,415,357 (GRCm39)	I261V	probably benign	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn1r73	A	T	7: 11,490,544 (GRCm39)	K121*	probably null	Het
Zc3h12d	A	T	10: 7,715,644 (GRCm39)	S16C	probably damaging	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
R5621:Zfp292	UTSW	4	34,811,703 (GRCm39)	missense	probably damaging	0.98
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
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'- TTGCAAACCCTCTAAAATGTCCTG -3'
(R):5'- TAAAGCCAGTCTTGAGCCCC -3'

Sequencing Primer
(F):5'- GATCCTCCTTATGTAATGCTTCAGAC -3'
(R):5'- GTCTTGAGCCCCATACAATGTTAAC -3'

Posted On

2018-11-28