Mutagenetix > Incidental Mutation

Incidental Mutation 'R4064:Zfp292'

316004

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

041620-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.843) question?

Stock #

R4064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34803113-34882960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34810863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 727 (V727A)

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: V732A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037233
Gene: ENSMUSG00000039967
AA Change: V732A

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: V727A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095766
Gene: ENSMUSG00000039967
AA Change: V727A

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

0.2327

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	G	19: 43,793,432 (GRCm39)	Y361*	probably null	Het
Afmid	A	G	11: 117,727,354 (GRCm39)	T293A	probably benign	Het
Ago4	A	T	4: 126,409,655 (GRCm39)		probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Axl	C	A	7: 25,463,445 (GRCm39)	V602L	probably benign	Het
Cdc5l	C	T	17: 45,721,816 (GRCm39)	A485T	probably benign	Het
Duoxa2	G	T	2: 122,131,058 (GRCm39)	S73I	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Etfdh	T	C	3: 79,513,098 (GRCm39)	E435G	possibly damaging	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fosb	G	T	7: 19,039,117 (GRCm39)	C186*	probably null	Het
Gtpbp2	G	A	17: 46,478,253 (GRCm39)	R467H	probably damaging	Het
Hnrnpll	T	C	17: 80,340,201 (GRCm39)	H526R	probably benign	Het
Mphosph9	A	T	5: 124,428,980 (GRCm39)	F683I	probably damaging	Het
Mrps24	G	A	11: 5,654,676 (GRCm39)	R93*	probably null	Het
Nhlh2	A	G	3: 101,920,052 (GRCm39)	D28G	probably benign	Het
Or1e16	A	T	11: 73,286,348 (GRCm39)	S167T	probably benign	Het
Or5w17	A	G	2: 87,584,133 (GRCm39)	F68S	probably damaging	Het
Otogl	A	T	10: 107,626,510 (GRCm39)	D1451E	probably benign	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Parp4	A	G	14: 56,861,597 (GRCm39)	S977G	probably benign	Het
Psmb7	T	C	2: 38,530,188 (GRCm39)	T98A	probably damaging	Het
Pus10	A	G	11: 23,678,983 (GRCm39)	K485R	probably damaging	Het
Rab11fip3	T	C	17: 26,243,368 (GRCm39)	D588G	probably damaging	Het
Rgl2	T	A	17: 34,156,082 (GRCm39)	D723E	possibly damaging	Het
Rp1	A	T	1: 4,415,623 (GRCm39)	S1830T	probably benign	Het
Rreb1	T	C	13: 38,114,293 (GRCm39)	S551P	probably benign	Het
Serpinb7	A	T	1: 107,373,766 (GRCm39)	E127D	probably benign	Het
Sh3pxd2b	G	T	11: 32,372,263 (GRCm39)	A477S	probably benign	Het
Slc26a9	T	C	1: 131,690,925 (GRCm39)	Y568H	probably benign	Het
Tars3	G	A	7: 65,302,018 (GRCm39)	A181T	possibly damaging	Het
Tbc1d2b	T	A	9: 90,100,975 (GRCm39)	K672*	probably null	Het
Tmem59l	T	C	8: 70,938,369 (GRCm39)	T168A	probably damaging	Het
Tshz2	A	G	2: 169,804,245 (GRCm39)		probably benign	Het
Vmn1r9	T	C	6: 57,048,306 (GRCm39)	F127S	probably damaging	Het
Zfp282	G	A	6: 47,857,028 (GRCm39)	R87H	probably damaging	Het
Zscan22	C	T	7: 12,640,941 (GRCm39)	T395I	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
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
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'- GTTGGGCCTCATGATCATACAG -3'
(R):5'- GTGATCCCTGTCCAGAAACC -3'

Sequencing Primer
(F):5'- GCCTCATGATCATACAGTAAATAAGC -3'
(R):5'- GTCCAGAAACCAGTACCTGTTAATG -3'

Posted On

2015-05-15