Mutagenetix > Incidental Mutation

Incidental Mutation 'R9102:Zfp518b'

691745

Institutional Source

Beutler Lab

Gene Symbol

Zfp518b

Ensembl Gene

ENSMUSG00000046572

Gene Name

zinc finger protein 518B

Synonyms

6820424L24Rik

MMRRC Submission

068916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R9102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38825828-38842120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38831181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 275 (T275A)

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

probably benign
Transcript: ENSMUST00000057258
AA Change: T275A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: T275A

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

probably benign
Transcript: ENSMUST00000179555
AA Change: T275A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: T275A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam33	T	C	2: 130,897,737 (GRCm39)	Q227R	probably benign	Het
Adgrb2	G	A	4: 129,912,802 (GRCm39)	G1276D	probably benign	Het
Adra1b	A	G	11: 43,667,056 (GRCm39)	S394P	possibly damaging	Het
Arap2	T	A	5: 62,906,341 (GRCm39)	H226L	probably benign	Het
Bckdk	A	G	7: 127,506,658 (GRCm39)	D297G	probably null	Het
Brwd1	T	C	16: 95,869,725 (GRCm39)	T101A	probably benign	Het
Ciita	A	G	16: 10,324,565 (GRCm39)	R166G	probably benign	Het
Cnksr1	A	G	4: 133,956,323 (GRCm39)	F587S	probably damaging	Het
Col4a1	A	T	8: 11,253,007 (GRCm39)	C1548S	possibly damaging	Het
Cxcl15	G	T	5: 90,949,154 (GRCm39)	M106I		Het
Dennd6a	T	C	14: 26,350,689 (GRCm39)	I598T	probably damaging	Het
Dlg5	G	A	14: 24,199,567 (GRCm39)	P1446S	probably damaging	Het
Dnah6	A	T	6: 73,044,469 (GRCm39)	I3214N	probably benign	Het
Dnmt3b	T	C	2: 153,518,703 (GRCm39)	V622A	probably damaging	Het
Fam170b	T	A	14: 32,557,404 (GRCm39)	S80T	probably damaging	Het
Fbxl13	G	T	5: 21,837,801 (GRCm39)	H45Q	probably benign	Het
Fbxo39	T	C	11: 72,208,316 (GRCm39)	F223L	possibly damaging	Het
Fndc3b	C	A	3: 27,523,014 (GRCm39)		probably null	Het
Gbp3	G	C	3: 142,273,586 (GRCm39)	V378L	probably benign	Het
Gc	C	T	5: 89,591,444 (GRCm39)	S98N	probably benign	Het
Gck	A	G	11: 5,856,516 (GRCm39)	Y214H	probably damaging	Het
Gpr158	A	T	2: 21,830,078 (GRCm39)	S708C	probably damaging	Het
Hmcn1	A	T	1: 150,573,331 (GRCm39)	M2106K	probably benign	Het
Hoxd11	T	A	2: 74,513,274 (GRCm39)	Y180N	possibly damaging	Het
Hydin	A	G	8: 111,235,546 (GRCm39)	I1844V	probably benign	Het
Knl1	T	C	2: 118,917,973 (GRCm39)	I1777T	probably benign	Het
Krt33b	A	C	11: 99,915,846 (GRCm39)	L300R	probably damaging	Het
Madd	C	T	2: 90,988,404 (GRCm39)	A1208T	probably benign	Het
Meis2	T	A	2: 115,694,760 (GRCm39)	N461I	probably benign	Het
Mgat1	T	A	11: 49,152,165 (GRCm39)	V216E	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Npc1l1	C	T	11: 6,164,684 (GRCm39)	V1122M	possibly damaging	Het
Nrsn1	A	G	13: 25,437,517 (GRCm39)	M137T	probably benign	Het
Nrxn3	T	C	12: 90,298,924 (GRCm39)	S1015P	probably benign	Het
Nudt22	T	A	19: 6,972,119 (GRCm39)	I166F	probably benign	Het
Or10d1b	A	C	9: 39,613,984 (GRCm39)	V27G	probably benign	Het
Or5j1	C	T	2: 86,879,171 (GRCm39)	M136I	possibly damaging	Het
Or6k4	A	T	1: 173,964,322 (GRCm39)	N4I		Het
Or6n2	T	A	1: 173,897,176 (GRCm39)	F104Y	probably damaging	Het
Or8b4	T	A	9: 37,829,992 (GRCm39)	I13N	probably damaging	Het
Or8g31-ps1	C	T	9: 39,276,388 (GRCm39)	P178S	unknown	Het
Pcdha4	T	A	18: 37,087,630 (GRCm39)	N604K	probably damaging	Het
Plxnc1	C	T	10: 94,663,107 (GRCm39)	V1181M	probably damaging	Het
Pms1	G	C	1: 53,307,021 (GRCm39)	H128Q	probably benign	Het
Prkar2b	G	A	12: 32,013,025 (GRCm39)	H364Y	probably benign	Het
Pus7	A	T	5: 23,957,380 (GRCm39)	I357K	possibly damaging	Het
Rsf1	GCGGC	GCGGCGGCGCCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,508,906 (GRCm39)		probably benign	Het
Siglec1	T	C	2: 130,915,389 (GRCm39)	I1401V	probably benign	Het
Slc6a6	G	T	6: 91,731,940 (GRCm39)	V590L	probably benign	Het
Slc9b1	C	T	3: 135,100,725 (GRCm39)	P490L	probably damaging	Het
Sprn	T	C	7: 139,733,278 (GRCm39)	D98G	possibly damaging	Het
Srrm4	T	C	5: 116,620,563 (GRCm39)	D55G	unknown	Het
Sugct	A	G	13: 17,497,833 (GRCm39)	V280A	probably benign	Het
Tbx6	A	G	7: 126,381,014 (GRCm39)	E83G	possibly damaging	Het
Tmem120a	T	C	5: 135,765,455 (GRCm39)	T209A	probably benign	Het
Top3a	T	C	11: 60,647,155 (GRCm39)	R255G	probably damaging	Het
Trav6-1	T	A	14: 52,876,008 (GRCm39)	F13I	probably benign	Het
Tsnaxip1	A	G	8: 106,568,622 (GRCm39)	E410G	probably benign	Het
Ubr5	A	G	15: 38,018,596 (GRCm39)	V842A		Het
Ubtf	A	G	11: 102,201,015 (GRCm39)		probably null	Het
Vwa3b	G	A	1: 37,174,593 (GRCm39)	M1I	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
IGL02491:Zfp518b	APN	5	38,831,123 (GRCm39)	missense	possibly damaging	0.90
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
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

Predicted Primers

PCR Primer
(F):5'- TTCACGTCCATCAACTGGGC -3'
(R):5'- TGACTACATCGTCAAGCACAGG -3'

Sequencing Primer
(F):5'- ATAACGGTCAGCGGCATC -3'
(R):5'- CTACATCGTCAAGCACAGGAGGAG -3'

Posted On

2021-12-30