Mutagenetix > Incidental Mutations

Incidental Mutation 'R5157:Zfp672'

396790

Institutional Source

Beutler Lab

Gene Symbol

Zfp672

Ensembl Gene

ENSMUSG00000049755

Gene Name

zinc finger protein 672

Synonyms

4930511N19Rik, 4930488P06Rik

MMRRC Submission

042739-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R5157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58315114-58330339 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58316851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 215 (S215P)

Ref Sequence

ENSEMBL: ENSMUSP00000104457 (fasta)

Gene Model

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

AlphaFold

Q99LH4

Predicted Effect

probably benign
Transcript: ENSMUST00000049353

SMART Domains

Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243

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

possibly damaging
Transcript: ENSMUST00000057836
AA Change: S215P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
AA Change: S215P

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: ENSMUST00000064786
AA Change: S215P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
AA Change: S215P

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: ENSMUST00000108829
AA Change: S215P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
AA Change: S215P

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

noncoding transcript
Transcript: ENSMUST00000130217

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135097

Predicted Effect

probably benign
Transcript: ENSMUST00000153510

SMART Domains

Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243

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

0.4743

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,686,066	S2T	probably benign	Het
Abca3	C	T	17: 24,408,122	R1266C	probably damaging	Het
Adap2	T	C	11: 80,156,946	F76S	probably damaging	Het
Adgb	T	A	10: 10,398,966	H747L	probably damaging	Het
Aox1	T	A	1: 58,070,063	V670D	probably damaging	Het
Ap4e1	A	G	2: 127,061,695	D839G	probably benign	Het
Arhgef11	T	A	3: 87,728,510		probably null	Het
AY074887	T	C	9: 54,950,818		probably benign	Het
Bicd1	C	G	6: 149,520,414	Q878E	probably benign	Het
Catspere1	A	T	1: 177,879,782		noncoding transcript	Het
Cnmd	T	C	14: 79,656,686	Q87R	probably benign	Het
Col24a1	G	T	3: 145,345,951	G661*	probably null	Het
Crtap	G	A	9: 114,384,792	L232F	probably damaging	Het
Ctsq	T	C	13: 61,037,099	T258A	probably benign	Het
Cyp2d26	T	C	15: 82,790,989	Q388R	probably benign	Het
Ddb1	A	T	19: 10,622,364	T646S	probably benign	Het
Dnah6	G	T	6: 73,195,634	S280R	probably benign	Het
Dzank1	T	C	2: 144,483,412	H545R	probably damaging	Het
Ehhadh	T	A	16: 21,766,511	M207L	probably benign	Het
Elmo2	T	A	2: 165,291,707		probably benign	Het
Golga3	G	A	5: 110,202,671	A731T	probably benign	Het
Igsf21	T	C	4: 140,028,067	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,174,741	E493G	probably benign	Het
Lmna	A	T	3: 88,484,107	D364E	probably damaging	Het
Lsr	T	C	7: 30,966,040	Y163C	probably damaging	Het
Map3k20	A	T	2: 72,438,214	T522S	probably benign	Het
Mpp5	T	A	12: 78,820,815	M324K	possibly damaging	Het
Mroh9	C	A	1: 163,044,121	A598S	probably damaging	Het
Msln	T	C	17: 25,752,983	M87V	probably benign	Het
Olfr1155	T	A	2: 87,942,888	M247L	probably benign	Het
Olfr1197	T	A	2: 88,729,548	Q17L	probably benign	Het
Olfr292	A	G	7: 86,695,232	K259E	probably benign	Het
Olfr385	T	C	11: 73,589,723	N5S	probably damaging	Het
Plekhg5	T	A	4: 152,107,865		probably benign	Het
Pprc1	G	T	19: 46,064,758		probably benign	Het
Ptprm	T	A	17: 66,957,097	K385I	probably benign	Het
Rfxap	T	A	3: 54,804,517	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,233,464	Y114*	probably null	Het
Smarcb1	G	T	10: 75,911,794		probably benign	Het
Spef2	T	A	15: 9,668,791	R770*	probably null	Het
Stard9	A	T	2: 120,697,861	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,610,027	Y1142F	probably benign	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Uba7	G	A	9: 107,980,047	V703I	probably benign	Het
Upb1	T	C	10: 75,412,804	S53P	possibly damaging	Het
Zfp978	T	A	4: 147,390,980	L328H	probably damaging	Het

Other mutations in Zfp672

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Zfp672	APN	11	58317366	missense	probably damaging	1.00
R0326:Zfp672	UTSW	11	58316347	missense	possibly damaging	0.86
R1485:Zfp672	UTSW	11	58329569	intron	probably benign
R1664:Zfp672	UTSW	11	58317312	missense	probably damaging	0.99
R1667:Zfp672	UTSW	11	58316095	missense	possibly damaging	0.53
R1853:Zfp672	UTSW	11	58316964	missense	probably benign
R2074:Zfp672	UTSW	11	58316636	missense	possibly damaging	0.71
R3817:Zfp672	UTSW	11	58316636	missense	possibly damaging	0.71
R4623:Zfp672	UTSW	11	58316455	missense	probably benign	0.34
R4745:Zfp672	UTSW	11	58329498	intron	probably benign
R5240:Zfp672	UTSW	11	58329701	intron	probably benign
R5510:Zfp672	UTSW	11	58316630	nonsense	probably null
R6207:Zfp672	UTSW	11	58317523	start gained	probably benign
R6279:Zfp672	UTSW	11	58317268	missense	probably damaging	0.99
R6300:Zfp672	UTSW	11	58317268	missense	probably damaging	0.99
R6432:Zfp672	UTSW	11	58316932	missense	possibly damaging	0.53
R6438:Zfp672	UTSW	11	58316737	missense	probably benign	0.07
R7777:Zfp672	UTSW	11	58317255	missense	possibly damaging	0.71
R8401:Zfp672	UTSW	11	58316802	missense	probably benign	0.28
R8489:Zfp672	UTSW	11	58329855	intron	probably benign
R8826:Zfp672	UTSW	11	58329764	missense	unknown
R8858:Zfp672	UTSW	11	58317319	missense	possibly damaging	0.91
R9298:Zfp672	UTSW	11	58329764	missense	unknown
RF012:Zfp672	UTSW	11	58316112	missense	probably benign
Z1186:Zfp672	UTSW	11	58329626	missense	unknown
Z1186:Zfp672	UTSW	11	58329960	intron	probably benign
Z1187:Zfp672	UTSW	11	58329626	missense	unknown
Z1188:Zfp672	UTSW	11	58329626	missense	unknown
Z1189:Zfp672	UTSW	11	58329626	missense	unknown
Z1190:Zfp672	UTSW	11	58329626	missense	unknown
Z1191:Zfp672	UTSW	11	58329626	missense	unknown
Z1191:Zfp672	UTSW	11	58329960	intron	probably benign
Z1192:Zfp672	UTSW	11	58329626	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAAGCCCTTGCCACAAGTG -3'
(R):5'- GAGATCATCACTGTCACCGC -3'

Sequencing Primer
(F):5'- TTCACCCTGATGGCTGCG -3'
(R):5'- ATCACTGTCACCGCCCCTTC -3'

Posted On

2016-06-21