Mutagenetix > Incidental Mutation

Incidental Mutation 'R6747:Zfp292'

530573

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

044864-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R6747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34803113-34882960 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34806894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 2050 (K2050R)

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: K2055R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: K2055R

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: K2050R

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: K2050R

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	T	3: 122,126,313 (GRCm38)		probably null	Het
Acyp1	C	T	12: 85,278,905 (GRCm38)	V107I	probably null	Het
Aftph	T	C	11: 20,726,144 (GRCm38)		probably null	Het
Agtpbp1	A	T	13: 59,544,353 (GRCm38)		probably null	Het
Arhgap15	C	A	2: 44,116,677 (GRCm38)	P269T	probably damaging	Het
Arhgap30	T	C	1: 171,407,729 (GRCm38)	V557A	probably damaging	Het
Asb3	T	A	11: 31,081,493 (GRCm38)	M410K	probably benign	Het
B4galnt2	T	C	11: 95,868,634 (GRCm38)		probably null	Het
Birc3	A	G	9: 7,860,261 (GRCm38)		probably null	Het
Cav2	A	T	6: 17,286,951 (GRCm38)	N69Y	probably damaging	Het
Cc2d2b	G	A	19: 40,795,667 (GRCm38)	C826Y	probably benign	Het
Cenpf	T	A	1: 189,652,854 (GRCm38)	T2410S	probably benign	Het
Chchd1	A	G	14: 20,703,380 (GRCm38)	D24G	probably benign	Het
Cmip	G	A	8: 117,436,879 (GRCm38)	G450S	probably benign	Het
Col11a1	C	T	3: 114,212,450 (GRCm38)	Q534*	probably null	Het
Col3a1	G	T	1: 45,338,622 (GRCm38)		probably benign	Het
Cox4i1	T	C	8: 120,673,230 (GRCm38)	I31T	possibly damaging	Het
Cstf3	G	T	2: 104,646,767 (GRCm38)	V168F	probably damaging	Het
Dapk1	T	C	13: 60,725,340 (GRCm38)	I352T	probably benign	Het
Ddx52	T	C	11: 83,955,302 (GRCm38)	V456A	probably damaging	Het
Dmxl2	A	T	9: 54,416,088 (GRCm38)	H1337Q	probably damaging	Het
Dnah7a	T	C	1: 53,636,062 (GRCm38)	T369A	probably benign	Het
Dppa1	T	A	11: 46,625,595 (GRCm38)	I8F	unknown	Het
Ebf1	G	T	11: 44,883,814 (GRCm38)	V213F	probably damaging	Het
Foxb2	C	A	19: 16,872,833 (GRCm38)	E270*	probably null	Het
Gclc	A	T	9: 77,788,245 (GRCm38)	R450W	probably damaging	Het
Gm13128	T	C	4: 144,332,978 (GRCm38)	W420R	probably benign	Het
Grin2d	T	C	7: 45,862,268 (GRCm38)	E251G	probably damaging	Het
Hal	A	T	10: 93,500,677 (GRCm38)	N423Y	probably damaging	Het
Krtap4-8	T	A	11: 99,780,091 (GRCm38)	I185F	unknown	Het
Lrp3	T	A	7: 35,211,437 (GRCm38)	Q61L	probably benign	Het
Met	A	C	6: 17,571,467 (GRCm38)	Q1296H	probably damaging	Het
Mphosph9	T	A	5: 124,297,699 (GRCm38)	N557I	possibly damaging	Het
Mrpl46	C	A	7: 78,782,981 (GRCm38)	W16C	probably benign	Het
Myh13	G	A	11: 67,350,419 (GRCm38)	R874Q	probably damaging	Het
Nelfb	G	A	2: 25,203,381 (GRCm38)	T453I	probably benign	Het
Nos2	A	G	11: 78,952,954 (GRCm38)	D909G	probably damaging	Het
Nr5a2	T	C	1: 136,882,344 (GRCm38)	E431G	possibly damaging	Het
Nsmce2	A	G	15: 59,591,724 (GRCm38)	D149G	probably benign	Het
Olfr203	T	C	16: 59,303,641 (GRCm38)	F164L	probably benign	Het
Olfr690	C	T	7: 105,330,027 (GRCm38)	R55H	probably benign	Het
Pcbp4	C	A	9: 106,460,648 (GRCm38)		probably null	Het
Peg10	A	G	6: 4,757,137 (GRCm38)		probably benign	Het
Pms2	C	T	5: 143,925,419 (GRCm38)	P154L	probably benign	Het
Pou6f2	A	C	13: 18,129,187 (GRCm38)	L112R	probably benign	Het
Prdm6	A	T	18: 53,465,046 (GRCm38)		probably benign	Het
Prob1	G	A	18: 35,655,154 (GRCm38)	R12W	probably damaging	Het
Rif1	T	A	2: 52,078,263 (GRCm38)		probably null	Het
Rpl9-ps6	A	G	19: 32,466,143 (GRCm38)	S137P	probably benign	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906 (GRCm38)		probably benign	Homo
Sec23ip	A	G	7: 128,752,849 (GRCm38)		silent	Het
Slc38a9	T	C	13: 112,690,180 (GRCm38)	C151R	probably benign	Het
Slc39a8	T	C	3: 135,849,180 (GRCm38)		probably null	Het
Slc6a18	C	A	13: 73,677,991 (GRCm38)		probably benign	Het
Snw1	T	C	12: 87,464,710 (GRCm38)	D57G	probably damaging	Het
Sox6	C	G	7: 115,541,731 (GRCm38)	R505P	probably damaging	Het
Speg	T	C	1: 75,410,395 (GRCm38)		probably null	Het
Spire2	C	T	8: 123,356,846 (GRCm38)	R190C	probably damaging	Het
Stard9	A	C	2: 120,698,383 (GRCm38)	H1707P	possibly damaging	Het
Tenm3	G	T	8: 48,343,243 (GRCm38)	T237K	probably damaging	Het
Themis2	T	A	4: 132,796,262 (GRCm38)	E31V	possibly damaging	Het
Trim56	T	G	5: 137,114,521 (GRCm38)	Q47P	probably damaging	Het
Trim58	T	C	11: 58,651,264 (GRCm38)	I350T	probably benign	Het
Ttll7	C	T	3: 146,944,056 (GRCm38)	P639S	probably benign	Het
Ubxn6	A	G	17: 56,070,650 (GRCm38)		probably null	Het
Vmn2r114	A	T	17: 23,309,876 (GRCm38)	F417L	probably benign	Het
Vmn2r29	T	A	7: 7,231,422 (GRCm38)	M822L	probably benign	Het
Vps9d1	T	C	8: 123,254,007 (GRCm38)	D27G	probably damaging	Het
Wdr3	C	T	3: 100,138,724 (GRCm38)	R931Q	probably damaging	Het
Whamm	G	A	7: 81,578,302 (GRCm38)		probably null	Het
Zcchc24	T	C	14: 25,757,033 (GRCm38)	H142R	probably damaging	Het

Other mutations in Zfp292

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Zfp292	APN	4	34,808,683 (GRCm38)	missense	probably benign	0.15
IGL00502:Zfp292	APN	4	34,809,775 (GRCm38)	missense	possibly damaging	0.63
IGL00539:Zfp292	APN	4	34,808,790 (GRCm38)	missense	probably damaging	0.98
IGL00676:Zfp292	APN	4	34,807,827 (GRCm38)	missense	probably damaging	0.99
IGL01068:Zfp292	APN	4	34,806,763 (GRCm38)	missense	probably damaging	1.00
IGL01311:Zfp292	APN	4	34,807,961 (GRCm38)	missense	probably benign	0.01
IGL01639:Zfp292	APN	4	34,809,048 (GRCm38)	missense	probably benign	0.04
IGL01688:Zfp292	APN	4	34,807,855 (GRCm38)	missense	possibly damaging	0.93
IGL02345:Zfp292	APN	4	34,809,244 (GRCm38)	missense	possibly damaging	0.94
IGL02444:Zfp292	APN	4	34,808,810 (GRCm38)	missense	possibly damaging	0.87
IGL02548:Zfp292	APN	4	34,805,416 (GRCm38)	missense	probably damaging	1.00
IGL02551:Zfp292	APN	4	34,806,462 (GRCm38)	missense	possibly damaging	0.93
IGL02702:Zfp292	APN	4	34,809,415 (GRCm38)	missense	probably benign	0.14
IGL02715:Zfp292	APN	4	34,819,542 (GRCm38)	missense	probably damaging	1.00
IGL03273:Zfp292	APN	4	34,806,163 (GRCm38)	missense	probably benign	0.00
F5770:Zfp292	UTSW	4	34,806,783 (GRCm38)	missense	possibly damaging	0.85
PIT4362001:Zfp292	UTSW	4	34,807,524 (GRCm38)	missense	probably benign	0.00
R0153:Zfp292	UTSW	4	34,811,185 (GRCm38)	missense	probably benign	0.26
R0184:Zfp292	UTSW	4	34,819,563 (GRCm38)	missense	probably damaging	1.00
R0295:Zfp292	UTSW	4	34,806,281 (GRCm38)	missense	probably damaging	1.00
R0367:Zfp292	UTSW	4	34,808,227 (GRCm38)	missense	probably benign	0.25
R0433:Zfp292	UTSW	4	34,839,959 (GRCm38)	missense	probably damaging	0.99
R0481:Zfp292	UTSW	4	34,810,059 (GRCm38)	missense	probably benign	0.28
R0555:Zfp292	UTSW	4	34,807,194 (GRCm38)	missense	probably damaging	1.00
R0597:Zfp292	UTSW	4	34,807,399 (GRCm38)	missense	probably benign	0.02
R0748:Zfp292	UTSW	4	34,816,424 (GRCm38)	splice site	probably benign
R0782:Zfp292	UTSW	4	34,839,382 (GRCm38)	missense	possibly damaging	0.94
R0834:Zfp292	UTSW	4	34,809,114 (GRCm38)	missense	probably benign	0.00
R0879:Zfp292	UTSW	4	34,811,218 (GRCm38)	missense	probably benign	0.00
R1083:Zfp292	UTSW	4	34,807,569 (GRCm38)	missense	probably damaging	0.98
R1343:Zfp292	UTSW	4	34,805,238 (GRCm38)	missense	probably damaging	0.98
R1498:Zfp292	UTSW	4	34,805,397 (GRCm38)	missense	possibly damaging	0.88
R1714:Zfp292	UTSW	4	34,808,935 (GRCm38)	missense	probably damaging	1.00
R1724:Zfp292	UTSW	4	34,811,237 (GRCm38)	missense	probably damaging	1.00
R1755:Zfp292	UTSW	4	34,811,043 (GRCm38)	missense	probably benign	0.02
R1837:Zfp292	UTSW	4	34,810,264 (GRCm38)	missense	probably damaging	0.98
R1914:Zfp292	UTSW	4	34,805,100 (GRCm38)	missense	possibly damaging	0.92
R1915:Zfp292	UTSW	4	34,805,100 (GRCm38)	missense	possibly damaging	0.92
R1936:Zfp292	UTSW	4	34,807,452 (GRCm38)	missense	probably benign	0.22
R2107:Zfp292	UTSW	4	34,808,593 (GRCm38)	missense	possibly damaging	0.86
R2108:Zfp292	UTSW	4	34,808,593 (GRCm38)	missense	possibly damaging	0.86
R2136:Zfp292	UTSW	4	34,810,266 (GRCm38)	missense	probably benign	0.13
R2182:Zfp292	UTSW	4	34,807,417 (GRCm38)	missense	probably damaging	1.00
R2186:Zfp292	UTSW	4	34,807,962 (GRCm38)	missense	probably benign	0.07
R2306:Zfp292	UTSW	4	34,809,468 (GRCm38)	missense	probably damaging	0.96
R2350:Zfp292	UTSW	4	34,811,281 (GRCm38)	missense	probably damaging	1.00
R2382:Zfp292	UTSW	4	34,806,426 (GRCm38)	missense	possibly damaging	0.91
R2872:Zfp292	UTSW	4	34,808,595 (GRCm38)	missense	probably damaging	1.00
R2872:Zfp292	UTSW	4	34,808,595 (GRCm38)	missense	probably damaging	1.00
R3018:Zfp292	UTSW	4	34,808,814 (GRCm38)	missense	probably damaging	0.99
R3812:Zfp292	UTSW	4	34,810,326 (GRCm38)	missense	probably damaging	0.98
R4006:Zfp292	UTSW	4	34,807,744 (GRCm38)	missense	probably benign	0.00
R4006:Zfp292	UTSW	4	34,809,611 (GRCm38)	missense	possibly damaging	0.62
R4060:Zfp292	UTSW	4	34,810,863 (GRCm38)	missense	probably damaging	1.00
R4062:Zfp292	UTSW	4	34,810,863 (GRCm38)	missense	probably damaging	1.00
R4063:Zfp292	UTSW	4	34,810,863 (GRCm38)	missense	probably damaging	1.00
R4064:Zfp292	UTSW	4	34,810,863 (GRCm38)	missense	probably damaging	1.00
R4207:Zfp292	UTSW	4	34,806,079 (GRCm38)	missense	probably benign	0.04
R4641:Zfp292	UTSW	4	34,807,828 (GRCm38)	missense	probably damaging	0.99
R4684:Zfp292	UTSW	4	34,807,078 (GRCm38)	missense	probably benign	0.00
R4718:Zfp292	UTSW	4	34,819,521 (GRCm38)	missense	possibly damaging	0.92
R4865:Zfp292	UTSW	4	34,819,563 (GRCm38)	missense	probably damaging	1.00
R4870:Zfp292	UTSW	4	34,808,917 (GRCm38)	missense	probably damaging	1.00
R5097:Zfp292	UTSW	4	34,839,878 (GRCm38)	missense	possibly damaging	0.89
R5233:Zfp292	UTSW	4	34,809,755 (GRCm38)	missense	probably damaging	1.00
R5246:Zfp292	UTSW	4	34,805,842 (GRCm38)	missense	possibly damaging	0.76
R5369:Zfp292	UTSW	4	34,807,491 (GRCm38)	missense	possibly damaging	0.89
R5527:Zfp292	UTSW	4	34,806,261 (GRCm38)	missense	probably damaging	1.00
R5621:Zfp292	UTSW	4	34,811,703 (GRCm38)	missense	probably damaging	0.98
R5770:Zfp292	UTSW	4	34,806,747 (GRCm38)	missense	probably damaging	1.00
R5900:Zfp292	UTSW	4	34,805,125 (GRCm38)	missense	probably damaging	1.00
R5905:Zfp292	UTSW	4	34,819,549 (GRCm38)	missense	probably damaging	1.00
R5994:Zfp292	UTSW	4	34,805,464 (GRCm38)	missense	possibly damaging	0.87
R6028:Zfp292	UTSW	4	34,819,549 (GRCm38)	missense	probably damaging	1.00
R6056:Zfp292	UTSW	4	34,809,784 (GRCm38)	missense	probably damaging	1.00
R6093:Zfp292	UTSW	4	34,811,902 (GRCm38)	missense	probably damaging	1.00
R6126:Zfp292	UTSW	4	34,808,497 (GRCm38)	missense	probably benign	0.13
R6209:Zfp292	UTSW	4	34,809,442 (GRCm38)	missense	probably benign	0.14
R6275:Zfp292	UTSW	4	34,808,883 (GRCm38)	missense	possibly damaging	0.93
R6523:Zfp292	UTSW	4	34,816,301 (GRCm38)	missense	probably benign	0.21
R6752:Zfp292	UTSW	4	34,808,593 (GRCm38)	missense	possibly damaging	0.86
R6967:Zfp292	UTSW	4	34,807,812 (GRCm38)	missense	probably damaging	1.00
R7038:Zfp292	UTSW	4	34,816,357 (GRCm38)	missense	probably damaging	1.00
R7056:Zfp292	UTSW	4	34,809,784 (GRCm38)	missense	probably damaging	1.00
R7088:Zfp292	UTSW	4	34,806,796 (GRCm38)	missense	probably damaging	1.00
R7158:Zfp292	UTSW	4	34,808,679 (GRCm38)	missense	probably benign
R7254:Zfp292	UTSW	4	34,819,476 (GRCm38)	missense	probably damaging	0.98
R7350:Zfp292	UTSW	4	34,806,839 (GRCm38)	missense	probably benign
R7378:Zfp292	UTSW	4	34,808,384 (GRCm38)	missense	probably benign	0.26
R7535:Zfp292	UTSW	4	34,811,487 (GRCm38)	missense	probably benign	0.28
R7589:Zfp292	UTSW	4	34,806,777 (GRCm38)	missense	probably damaging	1.00
R7816:Zfp292	UTSW	4	34,809,865 (GRCm38)	missense	probably benign	0.02
R7979:Zfp292	UTSW	4	34,809,198 (GRCm38)	missense	probably benign	0.02
R7997:Zfp292	UTSW	4	34,808,688 (GRCm38)	missense	probably damaging	0.96
R8129:Zfp292	UTSW	4	34,807,386 (GRCm38)	missense	probably damaging	1.00
R8211:Zfp292	UTSW	4	34,806,163 (GRCm38)	missense	probably benign	0.00
R8302:Zfp292	UTSW	4	34,810,893 (GRCm38)	missense	possibly damaging	0.64
R8500:Zfp292	UTSW	4	34,826,691 (GRCm38)	critical splice donor site	probably null
R8709:Zfp292	UTSW	4	34,805,982 (GRCm38)	missense	probably damaging	1.00
R8947:Zfp292	UTSW	4	34,811,835 (GRCm38)	missense	probably damaging	1.00
R9099:Zfp292	UTSW	4	34,809,228 (GRCm38)	missense	possibly damaging	0.53
R9190:Zfp292	UTSW	4	34,819,563 (GRCm38)	missense	probably damaging	1.00
R9256:Zfp292	UTSW	4	34,839,899 (GRCm38)	missense	probably benign	0.02
R9371:Zfp292	UTSW	4	34,810,800 (GRCm38)	missense	probably damaging	1.00
R9492:Zfp292	UTSW	4	34,810,794 (GRCm38)	missense	probably benign	0.12
R9574:Zfp292	UTSW	4	34,839,460 (GRCm38)	missense	probably damaging	1.00
V7580:Zfp292	UTSW	4	34,806,783 (GRCm38)	missense	possibly damaging	0.85
V7581:Zfp292	UTSW	4	34,806,783 (GRCm38)	missense	possibly damaging	0.85
V7582:Zfp292	UTSW	4	34,806,783 (GRCm38)	missense	possibly damaging	0.85
V7583:Zfp292	UTSW	4	34,806,783 (GRCm38)	missense	possibly damaging	0.85
Z1177:Zfp292	UTSW	4	34,811,058 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCAACCTCTGCAGAAAATGTAGG -3'
(R):5'- GTCACAACCAGCCTTCAAGG -3'

Sequencing Primer
(F):5'- TGTACAGCCTGGTAATGAAGAATC -3'
(R):5'- GCCTTCAAGGTACCAGCAG -3'

Posted On

2018-08-01