Mutagenetix > Incidental Mutation

Incidental Mutation 'R5231:Zfp354b'

398540

Institutional Source

Beutler Lab

Gene Symbol

Zfp354b

Ensembl Gene

ENSMUSG00000020335

Gene Name

zinc finger protein 354B

Synonyms

Kid2

MMRRC Submission

042803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50812650-50822460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 50813917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 336 (I336S)

Ref Sequence

ENSEMBL: ENSMUSP00000127671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109124] [ENSMUST00000164280]

AlphaFold

Q9QXT9

Predicted Effect

probably benign
Transcript: ENSMUST00000109124
AA Change: I336S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104752
Gene: ENSMUSG00000020335
AA Change: I336S

Domain	Start	End	E-Value	Type
KRAB	14	74	1.85e-36	SMART
ZnF_C2H2	206	228	4.47e-3	SMART
ZnF_C2H2	234	256	3.16e-3	SMART
ZnF_C2H2	262	284	7.37e-4	SMART
ZnF_C2H2	290	312	1.3e-4	SMART
ZnF_C2H2	343	365	1.47e-3	SMART
ZnF_C2H2	371	393	4.24e-4	SMART
ZnF_C2H2	399	421	2.79e-4	SMART
ZnF_C2H2	427	449	9.58e-3	SMART
ZnF_C2H2	455	477	2.4e-3	SMART
ZnF_C2H2	483	505	1.2e-3	SMART
ZnF_C2H2	511	533	3.95e-4	SMART
ZnF_C2H2	539	561	2.99e-4	SMART
ZnF_C2H2	567	589	4.87e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164280
AA Change: I336S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127671
Gene: ENSMUSG00000020335
AA Change: I336S

Domain	Start	End	E-Value	Type
KRAB	14	74	1.85e-36	SMART
ZnF_C2H2	206	228	4.47e-3	SMART
ZnF_C2H2	234	256	3.16e-3	SMART
ZnF_C2H2	262	284	7.37e-4	SMART
ZnF_C2H2	290	312	1.3e-4	SMART
ZnF_C2H2	343	365	1.47e-3	SMART
ZnF_C2H2	371	393	4.24e-4	SMART
ZnF_C2H2	399	421	2.79e-4	SMART
ZnF_C2H2	427	449	9.58e-3	SMART
ZnF_C2H2	455	477	2.4e-3	SMART
ZnF_C2H2	483	505	1.2e-3	SMART
ZnF_C2H2	511	533	3.95e-4	SMART
ZnF_C2H2	539	561	2.99e-4	SMART
ZnF_C2H2	567	589	4.87e-4	SMART

Meta Mutation Damage Score

0.3508

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat3	T	C	10: 80,442,260 (GRCm39)	S33P	possibly damaging	Het
Bche	G	A	3: 73,608,194 (GRCm39)	P411S	probably benign	Het
Chil3	A	G	3: 106,063,045 (GRCm39)	S182P	probably damaging	Het
Col6a4	T	C	9: 105,902,730 (GRCm39)	E1653G	probably damaging	Het
Csk	G	T	9: 57,537,661 (GRCm39)	H84Q	probably damaging	Het
Csmd2	A	G	4: 128,439,842 (GRCm39)	T3099A	probably benign	Het
Deup1	G	T	9: 15,486,495 (GRCm39)	A395E	probably damaging	Het
Frem2	T	C	3: 53,429,716 (GRCm39)	Y2778C	probably damaging	Het
Igfn1	T	C	1: 135,894,474 (GRCm39)	T2031A	probably benign	Het
Ighv1-53	C	A	12: 115,122,225 (GRCm39)	S50I	probably benign	Het
Ighv1-62-3	A	T	12: 115,424,671 (GRCm39)	M100K	possibly damaging	Het
Igkv2-109	T	A	6: 68,279,429 (GRCm39)	F3I	probably benign	Het
Isl1	T	C	13: 116,438,193 (GRCm39)	D296G	probably benign	Het
Klk1b16	T	A	7: 43,786,771 (GRCm39)	L10Q	probably damaging	Het
Kmt2c	A	T	5: 25,520,471 (GRCm39)	S1880T	possibly damaging	Het
Lhcgr	T	A	17: 89,063,039 (GRCm39)	N211I	probably damaging	Het
Ltb	C	T	17: 35,414,802 (GRCm39)	L201F	probably damaging	Het
Mfsd2a	A	G	4: 122,853,094 (GRCm39)	F64S	possibly damaging	Het
Mmp10	T	C	9: 7,502,501 (GRCm39)		probably null	Het
Mycbp2	A	C	14: 103,583,650 (GRCm39)		probably null	Het
Or1e34	C	A	11: 73,778,781 (GRCm39)	C139F	probably damaging	Het
Or52e2	A	T	7: 102,804,175 (GRCm39)	F260I	probably damaging	Het
Or5k17	T	C	16: 58,746,077 (GRCm39)	I286V	possibly damaging	Het
Or9i14	A	T	19: 13,792,711 (GRCm39)	I81N	probably damaging	Het
Peg10	C	T	6: 4,756,939 (GRCm39)		probably benign	Het
Plscr1	C	A	9: 92,148,784 (GRCm39)	P208H	probably damaging	Het
Rhot1	T	C	11: 80,118,160 (GRCm39)		probably null	Het
Rpl15-ps6	T	C	15: 52,341,440 (GRCm39)		noncoding transcript	Het
Smarcc2	T	C	10: 128,297,221 (GRCm39)	Y38H	probably damaging	Het
Spata31e2	T	A	1: 26,723,032 (GRCm39)	H716L	possibly damaging	Het
Stat2	T	C	10: 128,117,111 (GRCm39)		probably null	Het
Trip11	T	C	12: 101,851,860 (GRCm39)	K735E	probably damaging	Het
Ttll1	T	A	15: 83,373,667 (GRCm39)		probably null	Het
Vmn2r37	C	A	7: 9,209,594 (GRCm39)	L639F	possibly damaging	Het
Vmn2r60	A	T	7: 41,786,448 (GRCm39)	Q417L	possibly damaging	Het
Vps8	A	T	16: 21,395,475 (GRCm39)	D1255V	probably damaging	Het
Zfp747l1	T	C	7: 126,984,586 (GRCm39)	Y172C	probably damaging	Het

Other mutations in Zfp354b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02029:Zfp354b	APN	11	50,814,664 (GRCm39)	missense	probably benign
R1299:Zfp354b	UTSW	11	50,814,297 (GRCm39)	missense	probably benign	0.04
R1353:Zfp354b	UTSW	11	50,814,240 (GRCm39)	missense	probably damaging	0.96
R1860:Zfp354b	UTSW	11	50,814,369 (GRCm39)	missense	probably benign
R2072:Zfp354b	UTSW	11	50,813,279 (GRCm39)	nonsense	probably null
R5221:Zfp354b	UTSW	11	50,813,917 (GRCm39)	missense	probably benign	0.00
R5258:Zfp354b	UTSW	11	50,813,917 (GRCm39)	missense	probably benign	0.00
R5775:Zfp354b	UTSW	11	50,813,647 (GRCm39)	missense	probably benign	0.00
R5847:Zfp354b	UTSW	11	50,814,043 (GRCm39)	missense	probably damaging	0.96
R5929:Zfp354b	UTSW	11	50,813,282 (GRCm39)	missense	probably damaging	0.99
R6443:Zfp354b	UTSW	11	50,813,581 (GRCm39)	missense	possibly damaging	0.93
R6748:Zfp354b	UTSW	11	50,813,659 (GRCm39)	missense	probably damaging	1.00
R7439:Zfp354b	UTSW	11	50,813,224 (GRCm39)	missense	probably damaging	1.00
R7706:Zfp354b	UTSW	11	50,819,390 (GRCm39)	critical splice donor site	probably null
R7819:Zfp354b	UTSW	11	50,814,632 (GRCm39)	nonsense	probably null
R7830:Zfp354b	UTSW	11	50,814,136 (GRCm39)	missense	probably benign	0.28
R8508:Zfp354b	UTSW	11	50,814,297 (GRCm39)	missense	probably benign	0.04
R9157:Zfp354b	UTSW	11	50,813,887 (GRCm39)	missense	possibly damaging	0.95
R9170:Zfp354b	UTSW	11	50,814,362 (GRCm39)	missense	probably benign
R9303:Zfp354b	UTSW	11	50,820,256 (GRCm39)	missense	probably damaging	0.97
R9462:Zfp354b	UTSW	11	50,814,523 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCACTGCATCTGTAGGGC -3'
(R):5'- CATCCCTTCGCAAACATCTG -3'

Sequencing Primer
(F):5'- GCATCTGTAGGGCTTTTCTCCAG -3'
(R):5'- GAAAGCTTTCAGCCAAAGTTCTGC -3'

Posted On

2016-07-06