Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Zfp354b'

576836

Institutional Source

Beutler Lab

Gene Symbol

Zfp354b

Ensembl Gene

ENSMUSG00000020335

Gene Name

zinc finger protein 354B

Synonyms

Kid2

MMRRC Submission

045515-MU

Accession Numbers

Essential gene?

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

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50812650-50822460 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50813224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 567 (Y567C)

Ref Sequence

ENSEMBL: ENSMUSP00000104752 (fasta)

Gene Model

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

AlphaFold

Q9QXT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000109124
AA Change: Y567C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104752
Gene: ENSMUSG00000020335
AA Change: Y567C

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 damaging
Transcript: ENSMUST00000164280
AA Change: Y567C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127671
Gene: ENSMUSG00000020335
AA Change: Y567C

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,332 (GRCm39)	D273G	probably damaging	Het
Acacb	T	C	5: 114,333,703 (GRCm39)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,647,187 (GRCm39)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,604,931 (GRCm39)	F119L	probably benign	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bcl3	T	C	7: 19,556,536 (GRCm39)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,070,853 (GRCm39)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,188,478 (GRCm39)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,648,879 (GRCm39)		probably null	Het
Dnaaf5	T	G	5: 139,151,868 (GRCm39)	C506W	probably damaging	Het
Dock3	A	G	9: 106,900,931 (GRCm39)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,621,624 (GRCm39)	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,360,478 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,090,718 (GRCm39)	D1192A	probably benign	Het
Epn2	A	T	11: 61,437,674 (GRCm39)		probably benign	Het
Exoc1	T	A	5: 76,693,195 (GRCm39)	N360K	probably benign	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Hapln3	T	A	7: 78,767,017 (GRCm39)	T341S	probably benign	Het
Lamb3	C	A	1: 193,014,474 (GRCm39)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,578,349 (GRCm39)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,050,380 (GRCm39)	M791V	probably benign	Het
Lyg2	A	G	1: 37,950,218 (GRCm39)	Y37H	possibly damaging	Het
Lyz3	G	A	10: 117,074,602 (GRCm39)		probably benign	Het
Nrbp1	T	A	5: 31,402,300 (GRCm39)	M172K	probably damaging	Het
Or2l13b	T	G	16: 19,349,650 (GRCm39)	S7R	probably benign	Het
Or4c126	A	G	2: 89,824,183 (GRCm39)	I149V	probably benign	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Pcyt2	A	T	11: 120,502,209 (GRCm39)	Y308N	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phf21b	A	G	15: 84,689,104 (GRCm39)	S141P	probably damaging	Het
Pigh	G	A	12: 79,136,324 (GRCm39)	P24S	probably benign	Het
Plekhg3	A	G	12: 76,623,259 (GRCm39)	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,198,392 (GRCm39)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm39)	I170T	probably damaging	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,601,851 (GRCm39)	H196L	probably benign	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,422,187 (GRCm39)	Y489C	probably damaging	Het
Sis	G	A	3: 72,816,374 (GRCm39)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,220,064 (GRCm39)	V467A	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Sucnr1	A	G	3: 59,994,117 (GRCm39)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,266,394 (GRCm39)	A594V	probably damaging	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,017,812 (GRCm39)		probably null	Het
Taok3	C	A	5: 117,388,974 (GRCm39)	Q460K	probably damaging	Het
Tasor	T	A	14: 27,193,602 (GRCm39)	V934E	probably damaging	Het
Twf2	A	G	9: 106,091,597 (GRCm39)	E268G	probably damaging	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,820,013 (GRCm39)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Vps13d	A	G	4: 144,832,426 (GRCm39)	S2833P		Het
Xrn1	T	C	9: 95,933,682 (GRCm39)	S1584P	probably benign	Het
Zfp52	A	T	17: 21,781,132 (GRCm39)	R327*	probably null	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
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
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'- AGAGTTTCCTCATAGTCACTATACTTC -3'
(R):5'- AGGCATCCACGTCCCTTT -3'

Sequencing Primer
(F):5'- TCCTCATAGTCACTATACTTCTTGTC -3'
(R):5'- GGGAAAGGCTTCACTTCCATC -3'

Posted On

2019-10-07