Mutagenetix > Incidental Mutation

Incidental Mutation 'R6279:Zfp672'

507843

Institutional Source

Beutler Lab

Gene Symbol

Zfp672

Ensembl Gene

ENSMUSG00000049755

Gene Name

zinc finger protein 672

Synonyms

4930511N19Rik, 4930488P06Rik

MMRRC Submission

044449-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R6279 (G1)

Quality Score

164.009

Status

Validated

Chromosome

Chromosomal Location

58205940-58221165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58208094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 76 (C76S)

Ref Sequence

ENSEMBL: ENSMUSP00000140236 (fasta)

Gene Model

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

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: C76S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
AA Change: C76S

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: C76S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
AA Change: C76S

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: C76S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
AA Change: C76S

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 damaging
Transcript: ENSMUST00000186859
AA Change: C76S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140236
Gene: ENSMUSG00000049755
AA Change: C76S

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

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

Meta Mutation Damage Score

0.9427

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Arid1b	C	A	17: 5,392,274 (GRCm39)	L1935M	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Cyp2d22	C	A	15: 82,258,169 (GRCm39)	K150N	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Faap24	A	C	7: 35,095,709 (GRCm39)	V12G	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Ggta1	A	G	2: 35,298,006 (GRCm39)	Y148H	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il12a	A	T	3: 68,605,312 (GRCm39)	I193F	probably damaging	Het
Il2rb	T	C	15: 78,365,738 (GRCm39)	N520D	possibly damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Lrba	A	G	3: 86,256,171 (GRCm39)	D1171G	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Msh6	T	C	17: 88,287,677 (GRCm39)	W106R	probably damaging	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or10w3	A	G	19: 13,704,029 (GRCm39)	I135V	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or4c105	A	T	2: 88,647,719 (GRCm39)	D68V	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pde10a	T	C	17: 9,197,789 (GRCm39)	I1026T	probably damaging	Het
Pde4dip	A	C	3: 97,606,496 (GRCm39)	L2126R	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pkmyt1	C	T	17: 23,951,476 (GRCm39)	P10L	probably benign	Het
Pphln1-ps1	T	C	16: 13,495,134 (GRCm39)	S78P	probably damaging	Het
Prr5l	A	T	2: 101,547,765 (GRCm39)	Y253*	probably null	Het
Rdh9	A	G	10: 127,612,627 (GRCm39)	T92A	probably benign	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr1	A	T	7: 28,786,853 (GRCm39)	M1587K	possibly damaging	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Sh3d19	A	T	3: 86,011,409 (GRCm39)	I332F	possibly damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Slk	A	G	19: 47,630,443 (GRCm39)	T1205A	probably damaging	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Tnpo1	G	A	13: 99,027,216 (GRCm39)	P25L	possibly damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Tshz1	A	T	18: 84,033,436 (GRCm39)	V324D	probably damaging	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het

Other mutations in Zfp672

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Zfp672	APN	11	58,208,192 (GRCm39)	missense	probably damaging	1.00
R0326:Zfp672	UTSW	11	58,207,173 (GRCm39)	missense	possibly damaging	0.86
R1485:Zfp672	UTSW	11	58,220,395 (GRCm39)	intron	probably benign
R1664:Zfp672	UTSW	11	58,208,138 (GRCm39)	missense	probably damaging	0.99
R1667:Zfp672	UTSW	11	58,206,921 (GRCm39)	missense	possibly damaging	0.53
R1853:Zfp672	UTSW	11	58,207,790 (GRCm39)	missense	probably benign
R2074:Zfp672	UTSW	11	58,207,462 (GRCm39)	missense	possibly damaging	0.71
R3817:Zfp672	UTSW	11	58,207,462 (GRCm39)	missense	possibly damaging	0.71
R4623:Zfp672	UTSW	11	58,207,281 (GRCm39)	missense	probably benign	0.34
R4745:Zfp672	UTSW	11	58,220,324 (GRCm39)	intron	probably benign
R5157:Zfp672	UTSW	11	58,207,677 (GRCm39)	missense	possibly damaging	0.86
R5240:Zfp672	UTSW	11	58,220,527 (GRCm39)	intron	probably benign
R5510:Zfp672	UTSW	11	58,207,456 (GRCm39)	nonsense	probably null
R6207:Zfp672	UTSW	11	58,208,349 (GRCm39)	start gained	probably benign
R6300:Zfp672	UTSW	11	58,208,094 (GRCm39)	missense	probably damaging	0.99
R6432:Zfp672	UTSW	11	58,207,758 (GRCm39)	missense	possibly damaging	0.53
R6438:Zfp672	UTSW	11	58,207,563 (GRCm39)	missense	probably benign	0.07
R7777:Zfp672	UTSW	11	58,208,081 (GRCm39)	missense	possibly damaging	0.71
R8401:Zfp672	UTSW	11	58,207,628 (GRCm39)	missense	probably benign	0.28
R8489:Zfp672	UTSW	11	58,220,681 (GRCm39)	intron	probably benign
R8826:Zfp672	UTSW	11	58,220,590 (GRCm39)	missense	unknown
R8858:Zfp672	UTSW	11	58,208,145 (GRCm39)	missense	possibly damaging	0.91
R9298:Zfp672	UTSW	11	58,220,590 (GRCm39)	missense	unknown
RF012:Zfp672	UTSW	11	58,206,938 (GRCm39)	missense	probably benign
Z1186:Zfp672	UTSW	11	58,220,786 (GRCm39)	intron	probably benign
Z1186:Zfp672	UTSW	11	58,220,452 (GRCm39)	missense	unknown
Z1187:Zfp672	UTSW	11	58,220,452 (GRCm39)	missense	unknown
Z1188:Zfp672	UTSW	11	58,220,452 (GRCm39)	missense	unknown
Z1189:Zfp672	UTSW	11	58,220,452 (GRCm39)	missense	unknown
Z1190:Zfp672	UTSW	11	58,220,452 (GRCm39)	missense	unknown
Z1191:Zfp672	UTSW	11	58,220,786 (GRCm39)	intron	probably benign
Z1191:Zfp672	UTSW	11	58,220,452 (GRCm39)	missense	unknown
Z1192:Zfp672	UTSW	11	58,220,452 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGACAGTGATGATCTCAGGGG -3'
(R):5'- TGTGTGGCAAGAGCTTTCAG -3'

Sequencing Primer
(F):5'- GCGCTCTGCCGAAAAGAG -3'
(R):5'- CAAGAGCTTTCAGTATAGTGCAGTGC -3'

Posted On

2018-03-15