Mutagenetix > Incidental Mutation

Incidental Mutation 'R4623:Zfp672'

346349

Institutional Source

Beutler Lab

Gene Symbol

Zfp672

Ensembl Gene

ENSMUSG00000049755

Gene Name

zinc finger protein 672

Synonyms

4930511N19Rik, 4930488P06Rik

MMRRC Submission

041888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R4623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58205940-58221165 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58207281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 347 (C347S)

Ref Sequence

ENSEMBL: ENSMUSP00000104457 (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

probably benign
Transcript: ENSMUST00000057836
AA Change: C347S

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060088
Gene: ENSMUSG00000049755
AA Change: C347S

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
AA Change: C347S

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070567
Gene: ENSMUSG00000049755
AA Change: C347S

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
AA Change: C347S

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104457
Gene: ENSMUSG00000049755
AA Change: C347S

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: 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

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

0.8282

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	T	C	12: 11,272,141 (GRCm39)		noncoding transcript	Het
A930003A15Rik	C	T	16: 19,702,487 (GRCm39)		noncoding transcript	Het
Abca13	A	G	11: 9,259,130 (GRCm39)	Y2952C	probably damaging	Het
Actrt2	T	C	4: 154,751,747 (GRCm39)	T130A	probably benign	Het
Adamts7	T	A	9: 90,068,515 (GRCm39)	D475E	probably benign	Het
Adgrf5	A	G	17: 43,761,874 (GRCm39)	S1190G	probably benign	Het
Adgrg6	A	T	10: 14,317,243 (GRCm39)	C526S	probably damaging	Het
Aldoc	T	C	11: 78,215,947 (GRCm39)	V151A	probably damaging	Het
Arsj	A	T	3: 126,158,445 (GRCm39)	E8V	probably benign	Het
Asph	T	C	4: 9,622,005 (GRCm39)	K167E	possibly damaging	Het
Auts2	G	A	5: 131,469,221 (GRCm39)	P475S	probably benign	Het
C1d	A	G	11: 17,212,742 (GRCm39)	D29G	possibly damaging	Het
Calb1	T	A	4: 15,895,721 (GRCm39)		probably benign	Het
Ceacam15	A	T	7: 16,407,391 (GRCm39)	F42Y	probably damaging	Het
Cpm	A	G	10: 117,506,202 (GRCm39)	N188D	possibly damaging	Het
Cts6	A	T	13: 61,349,974 (GRCm39)	Y36N	possibly damaging	Het
Cux1	T	C	5: 136,337,154 (GRCm39)	K657R	probably damaging	Het
Cyp2a22	G	T	7: 26,632,916 (GRCm39)	P429T	probably damaging	Het
Dipk2a	T	C	9: 94,402,451 (GRCm39)	N404D	possibly damaging	Het
Dock3	T	C	9: 106,939,244 (GRCm39)	E168G	possibly damaging	Het
Dot1l	A	G	10: 80,617,984 (GRCm39)	N324S	probably benign	Het
Dusp13b	A	C	14: 21,793,546 (GRCm39)		probably benign	Het
Eif4g1	T	A	16: 20,500,095 (GRCm39)		probably benign	Het
Fan1	G	T	7: 64,023,301 (GRCm39)	Y121*	probably null	Het
Foxn4	T	C	5: 114,398,991 (GRCm39)	E80G	possibly damaging	Het
Gal3st2c	C	A	1: 93,937,178 (GRCm39)	H374Q	possibly damaging	Het
Gm973	A	T	1: 59,595,435 (GRCm39)	I409F	probably damaging	Het
Gpr18	T	A	14: 122,149,579 (GRCm39)	T149S	probably damaging	Het
Gsr	A	G	8: 34,170,333 (GRCm39)	E206G	probably damaging	Het
Hal	A	G	10: 93,343,301 (GRCm39)	H515R	probably damaging	Het
Heatr5b	A	G	17: 79,102,548 (GRCm39)	S1277P	possibly damaging	Het
Hmcn2	A	G	2: 31,286,722 (GRCm39)	E2125G	probably damaging	Het
Ikzf4	A	G	10: 128,476,988 (GRCm39)	C108R	probably damaging	Het
Kcnh2	A	G	5: 24,553,440 (GRCm39)	V59A	probably benign	Het
Khdrbs1	A	G	4: 129,614,635 (GRCm39)	V306A	probably benign	Het
Kif11	A	T	19: 37,398,195 (GRCm39)	I674L	probably benign	Het
Lrp1b	A	T	2: 41,136,033 (GRCm39)	C1646S	probably damaging	Het
Ltbp2	A	G	12: 84,856,122 (GRCm39)	I707T	probably damaging	Het
Macf1	A	G	4: 123,266,141 (GRCm39)		probably null	Het
Mib1	C	A	18: 10,808,086 (GRCm39)	N944K	probably benign	Het
Mical3	C	A	6: 120,938,586 (GRCm39)	E262*	probably null	Het
Mms22l	C	T	4: 24,502,792 (GRCm39)	Q55*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrps11	T	C	7: 78,441,689 (GRCm39)		probably null	Het
Myh8	A	G	11: 67,177,084 (GRCm39)	E412G	probably damaging	Het
Myo9a	T	A	9: 59,778,355 (GRCm39)	D1370E	probably benign	Het
Ncapd2	A	G	6: 125,150,572 (GRCm39)	V843A	probably benign	Het
Nell1	A	G	7: 49,770,310 (GRCm39)	E123G	possibly damaging	Het
Nkd1	A	G	8: 89,316,383 (GRCm39)	D213G	probably benign	Het
Nlrp1b	T	C	11: 71,052,669 (GRCm39)	T920A	probably benign	Het
Or5k8	A	T	16: 58,644,469 (GRCm39)	I201N	possibly damaging	Het
Or6c208	G	A	10: 129,223,915 (GRCm39)	V138M	probably benign	Het
Or8k40	T	A	2: 86,584,906 (GRCm39)	M59L	possibly damaging	Het
Pde8b	C	T	13: 95,178,447 (GRCm39)	A566T	possibly damaging	Het
Pds5b	T	A	5: 150,724,066 (GRCm39)	S1214R	probably benign	Het
Pld1	T	C	3: 28,083,393 (GRCm39)	I171T	probably benign	Het
Plekha5	T	A	6: 140,496,912 (GRCm39)	V154E	probably damaging	Het
Plxna2	A	T	1: 194,494,458 (GRCm39)	I1892L	probably benign	Het
Ppp1r16b	A	G	2: 158,603,383 (GRCm39)	Y436C	possibly damaging	Het
Proc	T	A	18: 32,260,526 (GRCm39)	T200S	probably benign	Het
Psap	T	G	10: 60,136,630 (GRCm39)	C536W	probably damaging	Het
Ptger2	G	A	14: 45,226,471 (GRCm39)	R17H	possibly damaging	Het
Rab42	A	G	4: 132,030,504 (GRCm39)	F49L	possibly damaging	Het
Racgap1	C	A	15: 99,524,087 (GRCm39)	S440I	probably benign	Het
Rdh10	G	A	1: 16,201,287 (GRCm39)		probably benign	Het
Rnft2	T	A	5: 118,370,471 (GRCm39)	S244C	probably damaging	Het
Sftpc	T	C	14: 70,759,718 (GRCm39)		probably null	Het
Shcbp1	A	C	8: 4,789,178 (GRCm39)	V547G	probably damaging	Het
Slc6a13	T	C	6: 121,302,104 (GRCm39)	S229P	probably damaging	Het
Soat2	A	T	15: 102,066,144 (GRCm39)		probably benign	Het
Swap70	A	G	7: 109,867,079 (GRCm39)	K294E	probably benign	Het
Tcim	C	A	8: 24,928,725 (GRCm39)	R63L	probably damaging	Het
Tek	G	A	4: 94,751,898 (GRCm39)	V1013I	probably damaging	Het
Tg	T	A	15: 66,607,120 (GRCm39)	M219K	probably benign	Het
Tie1	A	G	4: 118,343,808 (GRCm39)	S45P	possibly damaging	Het
Tmem59	A	T	4: 107,047,915 (GRCm39)		probably benign	Het
Togaram1	A	T	12: 65,029,224 (GRCm39)	E882D	possibly damaging	Het
Tram1l1	T	A	3: 124,115,509 (GRCm39)	M223K	possibly damaging	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Uspl1	T	A	5: 149,151,405 (GRCm39)	D669E	probably damaging	Het
Vav1	C	A	17: 57,606,839 (GRCm39)		probably null	Het
Vcl	A	T	14: 21,065,007 (GRCm39)	E634V	probably benign	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
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
R6279:Zfp672	UTSW	11	58,208,094 (GRCm39)	missense	probably damaging	0.99
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'- AATTTGCCACACTCTGTGCAC -3'
(R):5'- ACTGTGGACGCTGTTTCAG -3'

Sequencing Primer
(F):5'- GTGCACTCTGCTGTCCG -3'
(R):5'- ACACTGCTGCGTCACCAG -3'

Posted On

2015-09-25