Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Zfp692'

35012

Institutional Source

Beutler Lab

Gene Symbol

Zfp692

Ensembl Gene

ENSMUSG00000037243

Gene Name

zinc finger protein 692

Synonyms

Zfp692-ps

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58307069-58314627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58314314 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 463 (V463E)

Ref Sequence

ENSEMBL: ENSMUSP00000126674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049353] [ENSMUST00000057836] [ENSMUST00000064786] [ENSMUST00000108829] [ENSMUST00000153510] [ENSMUST00000155662] [ENSMUST00000186859]

AlphaFold

Q3U381

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049353
AA Change: V463E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
AA Change: V463E

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
low complexity region	94	110	N/A	INTRINSIC
low complexity region	159	175	N/A	INTRINSIC
low complexity region	193	204	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
ZnF_C2H2	327	352	4.11e-2	SMART
ZnF_C2H2	358	382	2.05e-2	SMART
ZnF_C2H2	388	410	1.69e-3	SMART
ZnF_C2H2	416	438	1.69e-3	SMART
ZnF_C2H2	447	470	6.23e-2	SMART
low complexity region	502	520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000057836

SMART Domains

Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755

Domain	Start	End	E-Value	Type
ZnF_C2H2	15	37	4.17e-3	SMART
ZnF_C2H2	43	65	8.75e0	SMART
ZnF_C2H2	71	93	1.18e-2	SMART
ZnF_C2H2	100	123	1.76e-1	SMART
ZnF_C2H2	129	151	1.59e1	SMART
ZnF_C2H2	167	189	4.47e-3	SMART
ZnF_C2H2	202	224	9.58e-3	SMART
ZnF_C2H2	230	252	7.37e-4	SMART
ZnF_C2H2	258	280	3.16e-3	SMART
ZnF_C2H2	286	308	1.45e-2	SMART
ZnF_C2H2	314	336	4.01e-5	SMART
ZnF_C2H2	342	364	5.5e-3	SMART
ZnF_C2H2	370	392	1.12e-3	SMART
ZnF_C2H2	398	420	6.67e-2	SMART
low complexity region	421	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000064786

SMART Domains

Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755

Domain	Start	End	E-Value	Type
ZnF_C2H2	15	37	4.17e-3	SMART
ZnF_C2H2	43	65	8.75e0	SMART
ZnF_C2H2	71	93	1.18e-2	SMART
ZnF_C2H2	100	123	1.76e-1	SMART
ZnF_C2H2	129	151	1.59e1	SMART
ZnF_C2H2	167	189	4.47e-3	SMART
ZnF_C2H2	202	224	9.58e-3	SMART
ZnF_C2H2	230	252	7.37e-4	SMART
ZnF_C2H2	258	280	3.16e-3	SMART
ZnF_C2H2	286	308	1.45e-2	SMART
ZnF_C2H2	314	336	4.01e-5	SMART
ZnF_C2H2	342	364	5.5e-3	SMART
ZnF_C2H2	370	392	1.12e-3	SMART
ZnF_C2H2	398	420	6.67e-2	SMART
low complexity region	421	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108829

SMART Domains

Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755

Domain	Start	End	E-Value	Type
ZnF_C2H2	15	37	4.17e-3	SMART
ZnF_C2H2	43	65	8.75e0	SMART
ZnF_C2H2	71	93	1.18e-2	SMART
ZnF_C2H2	100	123	1.76e-1	SMART
ZnF_C2H2	129	151	1.59e1	SMART
ZnF_C2H2	167	189	4.47e-3	SMART
ZnF_C2H2	202	224	9.58e-3	SMART
ZnF_C2H2	230	252	7.37e-4	SMART
ZnF_C2H2	258	280	3.16e-3	SMART
ZnF_C2H2	286	308	1.45e-2	SMART
ZnF_C2H2	314	336	4.01e-5	SMART
ZnF_C2H2	342	364	5.5e-3	SMART
ZnF_C2H2	370	392	1.12e-3	SMART
ZnF_C2H2	398	420	6.67e-2	SMART
low complexity region	421	441	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153510
AA Change: V463E

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
AA Change: V463E

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
low complexity region	94	110	N/A	INTRINSIC
low complexity region	159	175	N/A	INTRINSIC
low complexity region	193	204	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
ZnF_C2H2	327	352	4.11e-2	SMART
ZnF_C2H2	358	382	2.05e-2	SMART
ZnF_C2H2	388	410	1.69e-3	SMART
ZnF_C2H2	416	438	1.69e-3	SMART
ZnF_C2H2	447	470	6.23e-2	SMART
low complexity region	502	520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155662

SMART Domains

Protein: ENSMUSP00000114561
Gene: ENSMUSG00000049755

Domain	Start	End	E-Value	Type
ZnF_C2H2	15	37	4.17e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186859

SMART Domains

Protein: ENSMUSP00000140236
Gene: ENSMUSG00000049755

Domain	Start	End	E-Value	Type
ZnF_C2H2	15	37	1.8e-5	SMART
ZnF_C2H2	43	65	3.6e-2	SMART
ZnF_C2H2	71	90	6.1e-1	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	Het

Other mutations in Zfp692

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Zfp692	APN	11	58314029	missense	possibly damaging	0.94
IGL00978:Zfp692	APN	11	58309998	missense	possibly damaging	0.92
IGL01667:Zfp692	APN	11	58311553	missense	probably damaging	1.00
IGL02209:Zfp692	APN	11	58313998	nonsense	probably null
IGL02873:Zfp692	APN	11	58308939	missense	probably damaging	1.00
R0255:Zfp692	UTSW	11	58310403	splice site	probably benign
R0506:Zfp692	UTSW	11	58309055	nonsense	probably null
R0554:Zfp692	UTSW	11	58314227	missense	probably damaging	1.00
R0628:Zfp692	UTSW	11	58309623	missense	probably damaging	1.00
R0712:Zfp692	UTSW	11	58314314	missense	probably benign	0.00
R1112:Zfp692	UTSW	11	58311562	missense	probably damaging	1.00
R1493:Zfp692	UTSW	11	58314040	missense	probably damaging	1.00
R1768:Zfp692	UTSW	11	58310176	splice site	probably benign
R1853:Zfp692	UTSW	11	58309979	missense	possibly damaging	0.69
R3551:Zfp692	UTSW	11	58309428	missense	possibly damaging	0.52
R3552:Zfp692	UTSW	11	58309428	missense	possibly damaging	0.52
R4281:Zfp692	UTSW	11	58314265	missense	probably damaging	1.00
R4784:Zfp692	UTSW	11	58310171	missense	probably null	0.12
R5150:Zfp692	UTSW	11	58307587	start codon destroyed	probably null	0.77
R7035:Zfp692	UTSW	11	58309442	critical splice donor site	probably null
R7343:Zfp692	UTSW	11	58311505	missense	probably damaging	1.00
R7896:Zfp692	UTSW	11	58314236	missense	probably damaging	1.00
R8071:Zfp692	UTSW	11	58307734	missense	probably damaging	0.96
R8163:Zfp692	UTSW	11	58310373	splice site	probably null
R9043:Zfp692	UTSW	11	58307724	missense	probably damaging	0.98
R9487:Zfp692	UTSW	11	58308939	missense	probably damaging	1.00
R9777:Zfp692	UTSW	11	58308812	missense	probably benign	0.14
Z1186:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1186:Zfp692	UTSW	11	58310018	missense	probably benign
Z1187:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1187:Zfp692	UTSW	11	58310018	missense	probably benign
Z1188:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1188:Zfp692	UTSW	11	58310018	missense	probably benign
Z1189:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1189:Zfp692	UTSW	11	58310018	missense	probably benign
Z1190:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1190:Zfp692	UTSW	11	58310018	missense	probably benign
Z1191:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1191:Zfp692	UTSW	11	58310018	missense	probably benign
Z1192:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1192:Zfp692	UTSW	11	58310018	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGATCTTTCCGCACTAGCAGCAAC -3'
(R):5'- TGGCACCCCAGGTGAAGAAATG -3'

Sequencing Primer
(F):5'- AGGGAGCTATTATCTGGCAGC -3'
(R):5'- CCCAGGTGAAGAAATGGATGTTG -3'

Posted On

2013-05-09