Mutagenetix > Incidental Mutation

Incidental Mutation 'R8709:Zfp292'

669427

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

068563-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R8709 (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 34805982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 2359 (V2359E)

Ref Sequence

ENSEMBL: ENSMUSP00000037233 (fasta)

Gene Model

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

AlphaFold

Q9Z2U2

Predicted Effect

probably damaging
Transcript: ENSMUST00000047950
AA Change: V2359E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: V2359E

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: V2354E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: V2354E

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: 99.7%
20x: 99.1%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,316 (GRCm39)	S79P	unknown	Het
Aadacl4fm2	C	G	4: 144,281,863 (GRCm39)	A310P	probably damaging	Het
Adamts20	T	A	15: 94,238,947 (GRCm39)	D757V	probably damaging	Het
Adamts9	C	T	6: 92,784,144 (GRCm39)	G1570D	probably damaging	Het
Adamtsl3	A	G	7: 82,077,642 (GRCm39)	Y109C	possibly damaging	Het
Agl	G	A	3: 116,566,121 (GRCm39)	R335C		Het
Ankfy1	C	A	11: 72,646,532 (GRCm39)	T805K	possibly damaging	Het
Cast	A	T	13: 74,892,780 (GRCm39)	V96E	probably damaging	Het
Cdh17	G	T	4: 11,795,685 (GRCm39)	E422*	probably null	Het
Cox4i1	T	A	8: 121,396,110 (GRCm39)	L21H	possibly damaging	Het
Cwc22	T	C	2: 77,726,694 (GRCm39)	E795G	probably benign	Het
Cwf19l2	C	A	9: 3,430,723 (GRCm39)	Q352K	probably benign	Het
Cyp2d9	T	C	15: 82,339,276 (GRCm39)	V226A	probably benign	Het
Dnah12	A	G	14: 26,414,757 (GRCm39)	I53V	probably benign	Het
Dnah7a	T	C	1: 53,674,476 (GRCm39)	I434V	probably benign	Het
Dock8	C	T	19: 25,055,448 (GRCm39)	Q137*	probably null	Het
Eif4b	T	G	15: 102,002,116 (GRCm39)	V515G	unknown	Het
Far2	T	A	6: 148,067,133 (GRCm39)	N339K	probably benign	Het
Gpr22	T	C	12: 31,759,829 (GRCm39)	T98A	probably damaging	Het
Hamp2	A	G	7: 30,621,974 (GRCm39)	C72R	probably damaging	Het
Hmgn1	G	A	16: 95,928,540 (GRCm39)	P16S	possibly damaging	Het
Hspd1	A	G	1: 55,120,922 (GRCm39)	S256P	probably benign	Het
Iqcn	T	C	8: 71,162,372 (GRCm39)	C522R	possibly damaging	Het
Iqgap2	T	C	13: 95,796,713 (GRCm39)	H1147R	probably damaging	Het
Itgb1	T	A	8: 129,439,887 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,140,681 (GRCm39)	W654R	probably damaging	Het
Krtap22-2	T	A	16: 88,807,514 (GRCm39)	Y28F	unknown	Het
Lcp2	T	A	11: 34,004,354 (GRCm39)		probably benign	Het
Muc5ac	T	G	7: 141,370,663 (GRCm39)	L3225R	possibly damaging	Het
Myom3	A	G	4: 135,523,607 (GRCm39)	E908G	possibly damaging	Het
Nup54	A	G	5: 92,570,267 (GRCm39)		probably benign	Het
Or1p1	T	A	11: 74,180,054 (GRCm39)	I194N	possibly damaging	Het
Or4a74	C	T	2: 89,440,366 (GRCm39)	V27I	probably benign	Het
Or51af1	T	C	7: 103,141,519 (GRCm39)	T189A	probably benign	Het
Or5ae1	T	A	7: 84,565,671 (GRCm39)	I228N	probably damaging	Het
Pak4	A	C	7: 28,261,969 (GRCm39)	D453E	probably benign	Het
Pkd1l1	T	C	11: 8,805,567 (GRCm39)	T2120A		Het
Pkhd1l1	T	A	15: 44,381,570 (GRCm39)	S1099T	probably benign	Het
Pld2	C	T	11: 70,444,275 (GRCm39)	R524W	probably damaging	Het
Polr1a	T	A	6: 71,951,832 (GRCm39)	D1466E	probably benign	Het
Pxdn	C	T	12: 30,056,601 (GRCm39)	L1271F	probably damaging	Het
Rp1l1	A	C	14: 64,269,295 (GRCm39)	D1627A	probably damaging	Het
Sephs1	T	C	2: 4,889,402 (GRCm39)	V60A	probably benign	Het
Sipa1	C	T	19: 5,710,980 (GRCm39)	R10Q	probably damaging	Het
Sp4	T	C	12: 118,263,189 (GRCm39)	T286A	possibly damaging	Het
Spag5	T	A	11: 78,192,738 (GRCm39)	S23R	probably benign	Het
Spag9	T	A	11: 93,958,916 (GRCm39)	N313K	probably benign	Het
Stag1	T	A	9: 100,772,975 (GRCm39)		probably benign	Het
Stkld1	T	A	2: 26,835,817 (GRCm39)	H217Q	probably benign	Het
Stxbp2	T	A	8: 3,683,914 (GRCm39)	F104I	possibly damaging	Het
Tcf12	A	G	9: 71,765,787 (GRCm39)	V575A	possibly damaging	Het
Tcf12	A	T	9: 71,830,069 (GRCm39)	S131T	probably benign	Het
Tg	T	A	15: 66,553,786 (GRCm39)	S400R	probably benign	Het
Tomm40	T	C	7: 19,444,703 (GRCm39)	T200A	possibly damaging	Het
Trio	T	C	15: 27,919,323 (GRCm39)	E71G	unknown	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	34,809,611 (GRCm39)	missense	possibly damaging	0.62
R4006:Zfp292	UTSW	4	34,807,744 (GRCm39)	missense	probably benign	0.00
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
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
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'- GCAGCTGGTTCCGAGTTATC -3'
(R):5'- AAAGCCCATCTGATTCGGCC -3'

Sequencing Primer
(F):5'- AGCTGGTTCCGAGTTATCATTTTTC -3'
(R):5'- TTCGGCCAAGAAAATTAACTGGC -3'

Posted On

2021-04-30