Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02491:Zfp518b'

295644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp518b

Ensembl Gene

ENSMUSG00000046572

Gene Name

zinc finger protein 518B

Synonyms

6820424L24Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02491

Quality Score

Status

Chromosome

Chromosomal Location

38825828-38842120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38831123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 294 (I294T)

Ref Sequence

ENSEMBL: ENSMUSP00000137381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057258] [ENSMUST00000178760] [ENSMUST00000179555] [ENSMUST00000180214]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057258
AA Change: I294T

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: I294T

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	160	2.32e-1	SMART
ZnF_C2H2	165	187	1.67e-2	SMART
ZnF_C2H2	193	216	1.16e-1	SMART
low complexity region	523	536	N/A	INTRINSIC
low complexity region	636	645	N/A	INTRINSIC
low complexity region	714	730	N/A	INTRINSIC
low complexity region	1011	1023	N/A	INTRINSIC
ZnF_C2H2	1044	1066	1.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178760

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179555
AA Change: I294T

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: I294T

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	160	2.32e-1	SMART
ZnF_C2H2	165	187	1.67e-2	SMART
ZnF_C2H2	193	216	1.16e-1	SMART
low complexity region	523	536	N/A	INTRINSIC
low complexity region	636	645	N/A	INTRINSIC
low complexity region	714	730	N/A	INTRINSIC
low complexity region	1011	1023	N/A	INTRINSIC
ZnF_C2H2	1044	1066	1.2e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180214

SMART Domains

Protein: ENSMUSP00000136948
Gene: ENSMUSG00000046572

Domain	Start	End	E-Value	Type
ZnF_C2H2	138	160	2.32e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,067,794 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,330,166 (GRCm39)	I443N	probably damaging	Het
C1qtnf3	A	T	15: 10,972,067 (GRCm39)	I118F	possibly damaging	Het
Carmil3	C	T	14: 55,741,974 (GRCm39)	A1148V	probably benign	Het
Ccdc62	A	T	5: 124,099,378 (GRCm39)	S677C	probably damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col11a2	C	A	17: 34,283,181 (GRCm39)		probably benign	Het
Cpsf7	A	G	19: 10,517,001 (GRCm39)	I368V	possibly damaging	Het
Csmd2	T	C	4: 128,428,050 (GRCm39)	S2934P	probably benign	Het
Csmd3	A	G	15: 47,777,511 (GRCm39)		probably benign	Het
Cubn	A	G	2: 13,326,039 (GRCm39)	Y2709H	probably damaging	Het
Cyp2d12	T	A	15: 82,442,682 (GRCm39)	L375Q	possibly damaging	Het
Etv4	A	T	11: 101,674,791 (GRCm39)		probably null	Het
Exph5	T	A	9: 53,286,343 (GRCm39)	D1141E	possibly damaging	Het
Fbxo16	T	A	14: 65,558,736 (GRCm39)	H298Q	probably benign	Het
Fbxw21	T	A	9: 108,972,887 (GRCm39)	Y349F	probably benign	Het
Foxs1	G	A	2: 152,774,721 (GRCm39)	R111C	probably damaging	Het
Galnt15	T	A	14: 31,778,273 (GRCm39)	L436Q	probably damaging	Het
Gbf1	T	C	19: 46,250,979 (GRCm39)		probably benign	Het
Gm8237	A	T	14: 5,863,577 (GRCm38)	C29*	probably null	Het
Hcn1	A	G	13: 117,946,576 (GRCm39)	D317G	unknown	Het
Itgam	A	G	7: 127,715,190 (GRCm39)	N877D	possibly damaging	Het
Kcnma1	T	C	14: 23,361,757 (GRCm39)	R1047G	probably damaging	Het
Klhdc3	T	C	17: 46,988,226 (GRCm39)	R180G	possibly damaging	Het
Lpcat2	T	C	8: 93,600,879 (GRCm39)	V241A	probably damaging	Het
Mnat1	A	G	12: 73,170,682 (GRCm39)	N24S	probably null	Het
Mprip	A	G	11: 59,660,857 (GRCm39)	T967A	probably benign	Het
Mtf1	T	C	4: 124,732,372 (GRCm39)	F477L	probably benign	Het
Naaladl1	A	G	19: 6,159,748 (GRCm39)	E393G	possibly damaging	Het
Or10ak7	A	T	4: 118,791,358 (GRCm39)	L229H	probably damaging	Het
Or2at1	A	G	7: 99,416,540 (GRCm39)	E57G	possibly damaging	Het
Or5e1	A	G	7: 108,354,321 (GRCm39)	K86R	probably damaging	Het
Pcdhb6	A	T	18: 37,468,735 (GRCm39)	D552V	probably damaging	Het
Pglyrp3	C	T	3: 91,921,944 (GRCm39)	S4F	possibly damaging	Het
Pramel13	A	T	4: 144,121,322 (GRCm39)	M234K	probably damaging	Het
Prss27	A	T	17: 24,263,229 (GRCm39)		probably benign	Het
Slc5a9	A	G	4: 111,753,549 (GRCm39)	S51P	probably damaging	Het
Slc6a4	A	G	11: 76,918,034 (GRCm39)	Y592C	probably damaging	Het
Slc7a13	T	A	4: 19,841,404 (GRCm39)	V417D	probably damaging	Het
Spring1	T	C	5: 118,397,160 (GRCm39)	Y130H	probably benign	Het
Syne2	A	G	12: 76,118,953 (GRCm39)	T5857A	probably benign	Het
Thap1	A	C	8: 26,650,885 (GRCm39)	S52R	probably damaging	Het
Thsd4	T	C	9: 59,907,301 (GRCm39)	N158S	probably damaging	Het
Tmem147	A	T	7: 30,427,626 (GRCm39)		probably benign	Het
Trdmt1	G	A	2: 13,521,483 (GRCm39)	A311V	probably benign	Het
U2surp	T	A	9: 95,372,273 (GRCm39)	R296S	probably damaging	Het
Upf2	A	G	2: 6,030,975 (GRCm39)	D805G	unknown	Het
Usp34	T	A	11: 23,382,630 (GRCm39)	H2057Q	probably damaging	Het
Vmn2r110	T	A	17: 20,816,400 (GRCm39)	D41V	probably damaging	Het
Vmn2r16	T	A	5: 109,487,703 (GRCm39)	L192*	probably null	Het
Vnn3	T	A	10: 23,741,816 (GRCm39)	S374T	probably benign	Het
Wdr62	A	C	7: 29,942,184 (GRCm39)	D1089E	probably benign	Het
Xdh	T	A	17: 74,193,459 (GRCm39)	D1279V	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp983	G	A	17: 21,876,528 (GRCm39)		probably null	Het

Other mutations in Zfp518b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Zfp518b	APN	5	38,831,109 (GRCm39)	missense	possibly damaging	0.58
IGL01096:Zfp518b	APN	5	38,830,131 (GRCm39)	missense	probably benign	0.01
IGL02150:Zfp518b	APN	5	38,831,132 (GRCm39)	missense	probably damaging	1.00
IGL02150:Zfp518b	APN	5	38,830,686 (GRCm39)	missense	probably damaging	1.00
IGL02643:Zfp518b	APN	5	38,831,498 (GRCm39)	missense	probably damaging	1.00
IGL02710:Zfp518b	APN	5	38,830,061 (GRCm39)	missense	probably damaging	1.00
R0134:Zfp518b	UTSW	5	38,832,002 (GRCm39)	start codon destroyed	probably null	0.92
R0284:Zfp518b	UTSW	5	38,829,083 (GRCm39)	missense	probably damaging	1.00
R0308:Zfp518b	UTSW	5	38,830,113 (GRCm39)	missense	possibly damaging	0.64
R0421:Zfp518b	UTSW	5	38,831,918 (GRCm39)	missense	probably damaging	1.00
R0613:Zfp518b	UTSW	5	38,830,946 (GRCm39)	missense	probably damaging	1.00
R1604:Zfp518b	UTSW	5	38,830,949 (GRCm39)	missense	probably damaging	1.00
R1649:Zfp518b	UTSW	5	38,829,224 (GRCm39)	missense	probably damaging	1.00
R1845:Zfp518b	UTSW	5	38,829,084 (GRCm39)	missense	probably damaging	0.97
R1853:Zfp518b	UTSW	5	38,830,750 (GRCm39)	missense	probably benign	0.00
R2015:Zfp518b	UTSW	5	38,829,345 (GRCm39)	missense	probably benign	0.00
R2256:Zfp518b	UTSW	5	38,828,979 (GRCm39)	missense	possibly damaging	0.90
R3687:Zfp518b	UTSW	5	38,831,455 (GRCm39)	missense	probably damaging	1.00
R4275:Zfp518b	UTSW	5	38,829,071 (GRCm39)	missense	probably damaging	1.00
R4600:Zfp518b	UTSW	5	38,830,970 (GRCm39)	missense	probably damaging	0.98
R4603:Zfp518b	UTSW	5	38,830,970 (GRCm39)	missense	probably damaging	0.98
R4739:Zfp518b	UTSW	5	38,831,841 (GRCm39)	missense	possibly damaging	0.89
R5519:Zfp518b	UTSW	5	38,831,441 (GRCm39)	missense	probably damaging	1.00
R6827:Zfp518b	UTSW	5	38,828,882 (GRCm39)	missense	probably damaging	1.00
R6982:Zfp518b	UTSW	5	38,830,248 (GRCm39)	missense	probably benign	0.00
R7263:Zfp518b	UTSW	5	38,829,671 (GRCm39)	missense	probably damaging	1.00
R7271:Zfp518b	UTSW	5	38,831,907 (GRCm39)	missense	probably benign	0.01
R7354:Zfp518b	UTSW	5	38,840,122 (GRCm39)	start gained	probably benign
R7554:Zfp518b	UTSW	5	38,830,415 (GRCm39)	missense	probably damaging	1.00
R7738:Zfp518b	UTSW	5	38,829,530 (GRCm39)	missense	probably benign	0.20
R7817:Zfp518b	UTSW	5	38,829,741 (GRCm39)	missense	not run
R8166:Zfp518b	UTSW	5	38,831,838 (GRCm39)	missense	probably damaging	0.99
R8471:Zfp518b	UTSW	5	38,831,426 (GRCm39)	missense	probably damaging	1.00
R8505:Zfp518b	UTSW	5	38,830,119 (GRCm39)	missense	probably benign
R9102:Zfp518b	UTSW	5	38,831,181 (GRCm39)	missense	probably benign	0.01
R9205:Zfp518b	UTSW	5	38,831,501 (GRCm39)	missense	probably damaging	1.00
R9253:Zfp518b	UTSW	5	38,829,601 (GRCm39)	missense	probably benign	0.00
R9511:Zfp518b	UTSW	5	38,829,395 (GRCm39)	missense	possibly damaging	0.69
R9574:Zfp518b	UTSW	5	38,830,773 (GRCm39)	missense	probably benign	0.00
R9648:Zfp518b	UTSW	5	38,830,240 (GRCm39)	missense	probably damaging	1.00
R9686:Zfp518b	UTSW	5	38,831,457 (GRCm39)	missense	probably damaging	1.00
Z1088:Zfp518b	UTSW	5	38,831,636 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16