Mutagenetix > Incidental Mutation

Incidental Mutation 'R6443:Zfp354b'

519098

Institutional Source

Beutler Lab

Gene Symbol

Zfp354b

Ensembl Gene

ENSMUSG00000020335

Gene Name

zinc finger protein 354B

Synonyms

Kid2

MMRRC Submission

044581-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6443 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50812650-50822460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50813581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 448 (I448T)

Ref Sequence

ENSEMBL: ENSMUSP00000127671 (fasta)

Gene Model

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

AlphaFold

Q9QXT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109124
AA Change: I448T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104752
Gene: ENSMUSG00000020335
AA Change: I448T

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

possibly damaging
Transcript: ENSMUST00000164280
AA Change: I448T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127671
Gene: ENSMUSG00000020335
AA Change: I448T

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.9%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,357 (GRCm39)	L27P	probably damaging	Het
Actr6	T	C	10: 89,550,733 (GRCm39)	N354D	probably damaging	Het
Apbb1	T	A	7: 105,222,970 (GRCm39)	N214Y	probably damaging	Het
Bcar1	A	T	8: 112,441,970 (GRCm39)	V290E	probably damaging	Het
Ces1f	T	A	8: 94,001,993 (GRCm39)	Q45L	probably benign	Het
Ctss	A	C	3: 95,454,114 (GRCm39)	K221T	probably benign	Het
Dclre1b	T	A	3: 103,710,504 (GRCm39)	N469I	possibly damaging	Het
Dnah12	C	A	14: 26,600,008 (GRCm39)	Q3683K	probably benign	Het
Dnah8	A	G	17: 30,990,859 (GRCm39)	I3301V	probably benign	Het
Ephb4	G	A	5: 137,358,711 (GRCm39)	G298E	probably damaging	Het
Eya3	T	C	4: 132,439,238 (GRCm39)	F455L	probably damaging	Het
Fkbp5	G	T	17: 28,648,253 (GRCm39)	A112D	probably damaging	Het
Glud1	T	C	14: 34,061,884 (GRCm39)	M468T	probably benign	Het
Gm5114	C	A	7: 39,057,141 (GRCm39)	R826L	possibly damaging	Het
Gramd2b	G	A	18: 56,618,457 (GRCm39)	V222I	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Lpin2	T	C	17: 71,548,663 (GRCm39)	S576P	probably benign	Het
Lrrc1	A	G	9: 77,341,314 (GRCm39)	F415L	probably damaging	Het
Mtmr3	A	T	11: 4,437,358 (GRCm39)	I1032K	probably damaging	Het
Nr5a1	G	A	2: 38,600,442 (GRCm39)	T75M	probably damaging	Het
Nwd1	G	A	8: 73,388,994 (GRCm39)	V141I	possibly damaging	Het
Or1e1b-ps1	A	T	11: 73,845,918 (GRCm39)	Q134L	probably benign	Het
Or5ar1	T	G	2: 85,671,979 (GRCm39)	D52A	probably damaging	Het
Or6c214	C	A	10: 129,591,277 (GRCm39)	G14V	probably damaging	Het
Pla1a	T	C	16: 38,229,949 (GRCm39)		probably null	Het
Ppp1r36	A	G	12: 76,464,413 (GRCm39)	S4G	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Ryr1	A	T	7: 28,776,503 (GRCm39)	M2204K	probably damaging	Het
Ryr3	T	C	2: 112,506,278 (GRCm39)	N3428S	possibly damaging	Het
Slc6a4	A	G	11: 76,914,027 (GRCm39)	K526E	probably benign	Het
Slc9a8	G	A	2: 167,276,741 (GRCm39)	R78H	probably benign	Het
Sptbn1	T	C	11: 30,089,429 (GRCm39)	D611G	possibly damaging	Het
Sstr2	G	A	11: 113,516,080 (GRCm39)		probably null	Het
Tcf7	G	T	11: 52,144,765 (GRCm39)	T286N	probably benign	Het
Txndc5	A	G	13: 38,712,179 (GRCm39)	M69T	possibly damaging	Het
Usp48	T	A	4: 137,341,074 (GRCm39)	V358E	probably damaging	Het
Vmn2r1	T	A	3: 64,012,374 (GRCm39)	I745K	possibly damaging	Het
Zfp523	A	T	17: 28,420,381 (GRCm39)	T189S	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
R5231: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
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'- ATGCAAATCTATGTTCAAGGCG -3'
(R):5'- GGCATCCACGTCCCTTTCAG -3'

Sequencing Primer
(F):5'- CCCGCACGTGTTACATTTAAAGGG -3'
(R):5'- GACCTACTTGTGCAACGAATGTG -3'

Posted On

2018-05-24