Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03286:Zfp688'

415736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp688

Ensembl Gene

ENSMUSG00000045251

Gene Name

zinc finger protein 688

Synonyms

2810407K09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL03286

Quality Score

Status

Chromosome

Chromosomal Location

127018139-127021240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127018703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 141 (M141L)

Ref Sequence

ENSEMBL: ENSMUSP00000101907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106300] [ENSMUST00000148483]

AlphaFold

E9Q5M9

Predicted Effect

probably benign
Transcript: ENSMUST00000106300
AA Change: M141L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101907
Gene: ENSMUSG00000045251
AA Change: M141L

Domain	Start	End	E-Value	Type
KRAB	26	86	9.17e-32	SMART
ZnF_C2H2	181	203	5.42e-2	SMART
ZnF_C2H2	209	231	7.55e-1	SMART
low complexity region	236	252	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000126756
AA Change: M51L

SMART Domains

Protein: ENSMUSP00000119731
Gene: ENSMUSG00000045251
AA Change: M51L

Domain	Start	End	E-Value	Type
SCOP:d1fgja_	83	113	5e-4	SMART
Blast:ZnF_C2H2	92	113	1e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129038

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136123

Predicted Effect

probably benign
Transcript: ENSMUST00000148483

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,088,543 (GRCm39)	G110S	probably benign	Het
Arhgap32	T	C	9: 32,170,816 (GRCm39)	S1548P	probably benign	Het
Cacna1s	A	G	1: 136,005,397 (GRCm39)	D147G	probably benign	Het
Calcoco2	A	G	11: 95,994,098 (GRCm39)	V116A	possibly damaging	Het
Chd5	A	T	4: 152,469,952 (GRCm39)	M1842L	probably benign	Het
Comt	T	C	16: 18,230,490 (GRCm39)	D73G	probably damaging	Het
Ctnna1	A	G	18: 35,308,206 (GRCm39)	I175M	probably benign	Het
Dnah6	A	T	6: 73,060,068 (GRCm39)	Y2839N	probably damaging	Het
Dph7	T	A	2: 24,856,628 (GRCm39)	H193Q	probably damaging	Het
Eif2b5	A	G	16: 20,321,012 (GRCm39)	D258G	probably damaging	Het
Eml5	T	C	12: 98,826,762 (GRCm39)	D630G	probably damaging	Het
Ext2	C	T	2: 93,537,617 (GRCm39)	V590M	probably damaging	Het
Fchsd2	T	C	7: 100,908,982 (GRCm39)		probably null	Het
Gm13272	A	G	4: 88,698,586 (GRCm39)	Q167R	probably benign	Het
Gm21834	A	G	17: 58,048,922 (GRCm39)	V98A	possibly damaging	Het
Grid1	T	A	14: 35,242,642 (GRCm39)		probably benign	Het
H2-DMa	T	A	17: 34,356,083 (GRCm39)		probably null	Het
Ighv5-17	T	G	12: 113,822,797 (GRCm39)	E108A	possibly damaging	Het
Invs	A	G	4: 48,382,261 (GRCm39)	T144A	probably benign	Het
Ipo9	A	G	1: 135,334,816 (GRCm39)		probably benign	Het
Itga4	A	T	2: 79,119,706 (GRCm39)	Y504F	probably damaging	Het
Krt5	A	G	15: 101,615,983 (GRCm39)	F544S	unknown	Het
Larp4	A	G	15: 99,883,967 (GRCm39)	Y67C	probably damaging	Het
Msh2	T	C	17: 87,990,095 (GRCm39)	M261T	possibly damaging	Het
Nav1	A	T	1: 135,382,274 (GRCm39)	C1367S	probably benign	Het
Nox4	T	A	7: 87,019,349 (GRCm39)		probably benign	Het
Noxa1	A	G	2: 24,975,732 (GRCm39)		probably null	Het
Or5b98	A	C	19: 12,931,532 (GRCm39)	Y193S	probably benign	Het
Or6p1	A	C	1: 174,258,743 (GRCm39)	I250L	probably benign	Het
Pde4d	T	A	13: 110,091,040 (GRCm39)		probably benign	Het
Pdlim2	C	T	14: 70,411,925 (GRCm39)	G36S	possibly damaging	Het
Plekhm2	A	G	4: 141,361,658 (GRCm39)	S262P	possibly damaging	Het
Pnpla6	C	A	8: 3,581,473 (GRCm39)	T582K	probably damaging	Het
Rap1b	A	T	10: 117,654,480 (GRCm39)	L120*	probably null	Het
Rft1	C	T	14: 30,383,323 (GRCm39)	T121I	probably benign	Het
Scn1a	A	G	2: 66,107,920 (GRCm39)	I1613T	probably damaging	Het
Slc47a2	T	G	11: 61,233,293 (GRCm39)	E79A	possibly damaging	Het
Slc9a4	A	G	1: 40,619,928 (GRCm39)	I85V	probably null	Het
Slfn8	A	T	11: 82,904,294 (GRCm39)	F365L	probably damaging	Het
Smcr8	T	A	11: 60,668,853 (GRCm39)		probably benign	Het
Sntb1	T	C	15: 55,655,442 (GRCm39)	D258G	possibly damaging	Het
Sorbs1	A	G	19: 40,332,858 (GRCm39)	I520T	probably damaging	Het
Sptbn2	T	C	19: 4,797,860 (GRCm39)	S1896P	probably damaging	Het
Sptlc3	G	A	2: 139,431,579 (GRCm39)	G367D	probably damaging	Het
Stab1	C	T	14: 30,881,283 (GRCm39)		probably benign	Het
Tars2	T	C	3: 95,662,067 (GRCm39)		probably benign	Het
Tchhl1	C	T	3: 93,378,430 (GRCm39)	A378V	probably benign	Het
Tet3	A	T	6: 83,352,760 (GRCm39)	F1012Y	probably damaging	Het
Tuba8	A	G	6: 121,199,913 (GRCm39)	D199G	possibly damaging	Het
Vmn2r110	T	A	17: 20,804,468 (GRCm39)	T151S	possibly damaging	Het
Xirp2	T	C	2: 67,346,654 (GRCm39)	I2965T	probably damaging	Het

Other mutations in Zfp688

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1051:Zfp688	UTSW	7	127,018,397 (GRCm39)	missense	probably damaging	1.00
R1893:Zfp688	UTSW	7	127,018,409 (GRCm39)	missense	probably damaging	1.00
R4804:Zfp688	UTSW	7	127,021,057 (GRCm39)	missense	probably damaging	1.00
R4970:Zfp688	UTSW	7	127,018,327 (GRCm39)	missense	probably damaging	1.00
R7179:Zfp688	UTSW	7	127,018,484 (GRCm39)	missense	probably damaging	1.00
R7504:Zfp688	UTSW	7	127,018,483 (GRCm39)	missense	probably damaging	1.00
R9330:Zfp688	UTSW	7	127,021,077 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02