Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Zfp292'

318955

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

041036-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34803113-34882960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34806079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2322 (I2322V)

Ref Sequence

ENSEMBL: ENSMUSP00000095766 (fasta)

Gene Model

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

AlphaFold

Q9Z2U2

Predicted Effect

probably benign
Transcript: ENSMUST00000047950
AA Change: I2327V

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: I2327V

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: I2322V

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: I2322V

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

0.0725

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,872,551 (GRCm39)	Q17*	probably null	Het
Acap2	T	A	16: 30,938,245 (GRCm39)	N293I	probably damaging	Het
Adgrg4	G	A	X: 55,964,109 (GRCm39)	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,966,854 (GRCm39)		probably null	Het
Ap1b1	A	G	11: 4,981,637 (GRCm39)	D515G	probably damaging	Het
Brk1	T	C	6: 113,592,805 (GRCm39)	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,047,750 (GRCm39)	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451 (GRCm39)	D311G	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,973 (GRCm39)	V1033F	probably damaging	Het
Dhx29	G	T	13: 113,064,483 (GRCm39)	A53S	probably benign	Het
Dis3	T	G	14: 99,332,752 (GRCm39)	I227L	probably benign	Het
Efhc2	T	C	X: 17,096,789 (GRCm39)	N186S	possibly damaging	Het
Efl1	T	C	7: 82,400,024 (GRCm39)	V592A	probably damaging	Het
Elovl7	A	T	13: 108,419,040 (GRCm39)	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 170,881,644 (GRCm39)	K160N	probably benign	Het
Flg	A	G	3: 93,187,169 (GRCm39)	Y207C	probably benign	Het
Fmn2	A	G	1: 174,409,521 (GRCm39)	T585A	unknown	Het
Gm7135	T	C	1: 97,397,620 (GRCm39)		noncoding transcript	Het
Gm8104	G	T	14: 42,959,091 (GRCm39)	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ino80b	G	C	6: 83,099,314 (GRCm39)	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,740,099 (GRCm39)	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810 (GRCm39)	I57V	probably benign	Het
Me2	T	C	18: 73,924,156 (GRCm39)	K352R	probably benign	Het
Mthfsd	A	G	8: 121,832,365 (GRCm39)	V133A	probably damaging	Het
Nav2	T	A	7: 49,246,979 (GRCm39)	I2168N	probably damaging	Het
Nav2	T	A	7: 49,222,046 (GRCm39)		probably null	Het
Nlrp10	T	A	7: 108,523,548 (GRCm39)	D644V	possibly damaging	Het
Oplah	C	T	15: 76,186,910 (GRCm39)	R635H	probably damaging	Het
Or10n1	A	G	9: 39,525,253 (GRCm39)	Y130C	possibly damaging	Het
Or2c1	T	C	16: 3,657,434 (GRCm39)	L199P	probably damaging	Het
Or5b117	T	C	19: 13,431,835 (GRCm39)	I15M	probably benign	Het
Peli1	A	G	11: 21,097,115 (GRCm39)		probably null	Het
Pfkfb1	A	T	X: 149,405,184 (GRCm39)	D208V	possibly damaging	Het
Pld5	T	G	1: 175,821,441 (GRCm39)	T242P	probably damaging	Het
Rbm5	A	G	9: 107,627,682 (GRCm39)	S420P	probably benign	Het
Rhag	A	T	17: 41,142,544 (GRCm39)	I250F	probably damaging	Het
Rnase4	A	G	14: 51,342,462 (GRCm39)	K62R	probably benign	Het
Scaf4	C	T	16: 90,057,103 (GRCm39)	V83I	unknown	Het
Slc24a2	A	G	4: 87,145,442 (GRCm39)	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,747,275 (GRCm39)	L409F	probably damaging	Het
Spns3	A	T	11: 72,429,187 (GRCm39)	V199E	probably damaging	Het
Sspo	A	G	6: 48,455,227 (GRCm39)	T3030A	probably benign	Het
Sstr2	A	C	11: 113,515,482 (GRCm39)	T134P	probably damaging	Het
Stk39	G	T	2: 68,051,264 (GRCm39)	T527K	probably benign	Het
Sult2a1	T	A	7: 13,535,472 (GRCm39)	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 114,989,320 (GRCm39)		probably benign	Het
Trav7-3	A	G	14: 53,681,203 (GRCm39)	T82A	probably benign	Het
Umodl1	G	A	17: 31,178,341 (GRCm39)	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,254,574 (GRCm39)	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,404,523 (GRCm39)	V556M	possibly damaging	Het
Zfp644	T	C	5: 106,766,142 (GRCm39)	E93G	probably damaging	Het
Zfp81	C	T	17: 33,553,890 (GRCm39)	C308Y	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
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
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'- TTGTGATGTAAATGCCCTGGAC -3'
(R):5'- TAAAGCCCATCTGATTCGGC -3'

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

Posted On

2015-06-10