Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Zfp518b'

701650

Institutional Source

Beutler Lab

Gene Symbol

Zfp518b

Ensembl Gene

ENSMUSG00000046572

Gene Name

zinc finger protein 518B

Synonyms

6820424L24Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38825828-38842120 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38829601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 801 (D801E)

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: D801E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000061753
Gene: ENSMUSG00000046572
AA Change: D801E

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: D801E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000137381
Gene: ENSMUSG00000046572
AA Change: D801E

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Adh4	A	T	3: 138,129,860 (GRCm39)	I229F	probably damaging	Het
Ajm1	T	C	2: 25,467,172 (GRCm39)	H913R	possibly damaging	Het
Aldh3b1	T	A	19: 3,965,315 (GRCm39)	S399C	probably damaging	Het
Arhgef28	C	T	13: 98,124,779 (GRCm39)	G501D	probably benign	Het
Asb1	C	A	1: 91,468,551 (GRCm39)	T6N	unknown	Het
Asb18	C	T	1: 89,882,185 (GRCm39)	V382I	probably benign	Het
AU041133	T	C	10: 81,987,220 (GRCm39)	I291T	probably benign	Het
B4galnt2	C	T	11: 95,759,176 (GRCm39)		silent	Het
Bcl7c	T	C	7: 127,306,403 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,711,083 (GRCm39)	N375S	possibly damaging	Het
C6	A	G	15: 4,764,679 (GRCm39)	Q125R	probably benign	Het
Card14	T	C	11: 119,212,759 (GRCm39)	S108P	probably benign	Het
Clec4a2	C	A	6: 123,100,608 (GRCm39)	T21N	probably damaging	Het
Cntnap2	C	T	6: 45,978,112 (GRCm39)	L256F	probably benign	Het
Cobll1	G	A	2: 64,981,503 (GRCm39)	T29I	probably benign	Het
Coq4	A	T	2: 29,685,433 (GRCm39)	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698 (GRCm39)	L91S	probably benign	Het
Fat2	T	A	11: 55,201,397 (GRCm39)	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 100,836,917 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,676,407 (GRCm39)	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,378 (GRCm39)	S146P	probably damaging	Het
Heatr5b	A	G	17: 79,135,423 (GRCm39)	V236A	probably benign	Het
Hjv	T	C	3: 96,435,710 (GRCm39)	S323P	probably benign	Het
Hmgcr	C	T	13: 96,796,645 (GRCm39)	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,789,632 (GRCm39)	A57S	probably benign	Het
Lilrb4b	G	A	10: 51,357,863 (GRCm39)	V186I	probably damaging	Het
Map1a	T	C	2: 121,132,823 (GRCm39)	V1213A	probably benign	Het
Marf1	T	C	16: 13,935,172 (GRCm39)	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,279,264 (GRCm39)	Y174C	probably damaging	Het
Miga2	T	A	2: 30,261,239 (GRCm39)	V178E	probably benign	Het
Myh11	T	A	16: 14,074,359 (GRCm39)	I174F		Het
Ndufv1	G	T	19: 4,059,412 (GRCm39)	A211E	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrp1	T	C	8: 129,229,144 (GRCm39)	V874A	possibly damaging	Het
Nsf	C	T	11: 103,804,142 (GRCm39)	G197S	probably null	Het
Or10al2	A	T	17: 37,983,637 (GRCm39)	H241L	probably benign	Het
Or2t26	T	C	11: 49,039,822 (GRCm39)	M246T	probably damaging	Het
Pacs2	A	G	12: 113,014,137 (GRCm39)	D196G	probably benign	Het
Pbxip1	A	G	3: 89,351,012 (GRCm39)	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,554,529 (GRCm39)		probably benign	Het
Pgk2	C	T	17: 40,519,233 (GRCm39)	G65D	probably damaging	Het
Plcd3	T	C	11: 102,970,460 (GRCm39)	D193G	probably benign	Het
Plcl2	T	G	17: 50,915,127 (GRCm39)	M712R	probably damaging	Het
Plxna1	G	A	6: 89,334,522 (GRCm39)	Q36*	probably null	Het
Plxnb2	A	G	15: 89,052,015 (GRCm39)	V68A	probably benign	Het
Polr2b	A	G	5: 77,493,224 (GRCm39)	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,111,973 (GRCm39)	T200A	probably benign	Het
Rspry1	T	A	8: 95,349,621 (GRCm39)	V3D	probably damaging	Het
Serpinb6d	T	C	13: 33,855,205 (GRCm39)	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,680,913 (GRCm39)	R72G	probably benign	Het
Smarca5	A	C	8: 81,446,344 (GRCm39)	L452W	probably damaging	Het
Srcin1	T	C	11: 97,416,377 (GRCm39)	K952E	probably damaging	Het
Synpo2l	G	T	14: 20,716,738 (GRCm39)	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,773,803 (GRCm39)	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,930,644 (GRCm39)	T206A	probably damaging	Het
Ttn	T	A	2: 76,562,951 (GRCm39)	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,645,817 (GRCm39)	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,960 (GRCm39)	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,129,582 (GRCm39)	S824R	probably damaging	Het
Vps54	G	A	11: 21,258,771 (GRCm39)	V733I	probably benign	Het
Zgrf1	C	A	3: 127,392,428 (GRCm39)	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,739,463 (GRCm39)		probably benign	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
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
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'- GATGGAGTCACTGCTTCCTG -3'
(R):5'- AGACAGCTTGTTCCACAGCAG -3'

Sequencing Primer
(F):5'- CACAGGGACCATTTTCTTAGCAGTG -3'
(R):5'- AGGTCTGTCCCCAGTTTATCAGTG -3'

Posted On

2022-03-25