Mutagenetix > Incidental Mutation

Incidental Mutation 'R0098:Zfp386'

64114

Institutional Source

Beutler Lab

Gene Symbol

Zfp386

Ensembl Gene

ENSMUSG00000042063

Gene Name

zinc finger protein 386 (Kruppel-like)

Synonyms

MMRRC Submission

038384-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0098 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

116011334-116026851 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116022834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 184 (L184*)

Ref Sequence

ENSEMBL: ENSMUSP00000138305 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073551] [ENSMUST00000183125]

AlphaFold

Q1WWJ5

Predicted Effect

probably null
Transcript: ENSMUST00000073551
AA Change: L149*

SMART Domains

Protein: ENSMUSP00000073241
Gene: ENSMUSG00000042063
AA Change: L149*

Domain	Start	End	E-Value	Type
KRAB	6	66	1.88e-19	SMART
ZnF_C2H2	379	401	4.72e-2	SMART
ZnF_C2H2	407	429	6.42e-4	SMART
ZnF_C2H2	435	457	5.14e-3	SMART
ZnF_C2H2	463	485	2.09e-3	SMART
ZnF_C2H2	491	513	6.42e-4	SMART
ZnF_C2H2	519	541	4.87e-4	SMART
ZnF_C2H2	547	569	1.28e-3	SMART
ZnF_C2H2	575	597	2.2e-2	SMART
ZnF_C2H2	603	625	5.99e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182566

Predicted Effect

probably null
Transcript: ENSMUST00000183125
AA Change: L184*

SMART Domains

Protein: ENSMUSP00000138305
Gene: ENSMUSG00000042063
AA Change: L184*

Domain	Start	End	E-Value	Type
KRAB	6	66	1.88e-19	SMART
ZnF_C2H2	379	401	4.72e-2	SMART
ZnF_C2H2	407	429	6.42e-4	SMART
ZnF_C2H2	435	457	5.14e-3	SMART
ZnF_C2H2	463	485	2.09e-3	SMART
ZnF_C2H2	491	513	6.42e-4	SMART
ZnF_C2H2	519	541	4.87e-4	SMART
ZnF_C2H2	547	569	1.28e-3	SMART
ZnF_C2H2	575	597	2.2e-2	SMART
ZnF_C2H2	603	625	5.99e-4	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

100% (54/54)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,127,689 (GRCm39)	I97T	probably damaging	Het
Acp3	C	T	9: 104,197,144 (GRCm39)		probably null	Het
Adam32	T	A	8: 25,404,405 (GRCm39)	Y200F	possibly damaging	Het
Alpk2	A	G	18: 65,482,982 (GRCm39)	L342S	probably damaging	Het
Arfgef3	A	G	10: 18,465,390 (GRCm39)	V2151A	probably damaging	Het
Atm	T	C	9: 53,429,869 (GRCm39)	D389G	probably benign	Het
Atp10b	A	T	11: 43,080,431 (GRCm39)	S236C	probably benign	Het
B3gat1	C	T	9: 26,668,237 (GRCm39)	R276C	probably damaging	Het
Cndp1	T	A	18: 84,646,949 (GRCm39)	E246D	probably damaging	Het
Crebbp	A	G	16: 3,909,792 (GRCm39)	L1078P	probably damaging	Het
Cyp20a1	G	T	1: 60,426,413 (GRCm39)	E452*	probably null	Het
Emb	T	C	13: 117,404,034 (GRCm39)	V262A	probably damaging	Het
Ephb1	C	T	9: 101,918,339 (GRCm39)	R390H	probably damaging	Het
Faf1	T	C	4: 109,792,696 (GRCm39)	L556S	probably damaging	Het
Fam237b	T	A	5: 5,625,355 (GRCm39)	L17Q	possibly damaging	Het
Fbf1	A	T	11: 116,038,945 (GRCm39)		probably null	Het
Gid8	T	A	2: 180,356,528 (GRCm39)	I55N	possibly damaging	Het
Hexa	T	C	9: 59,465,383 (GRCm39)	Y213H	probably damaging	Het
Kalrn	A	T	16: 33,795,989 (GRCm39)	I1262K	possibly damaging	Het
Lrp1	C	T	10: 127,388,607 (GRCm39)	V3281I	probably benign	Het
Lrp2	T	C	2: 69,305,756 (GRCm39)	D2935G	probably damaging	Het
Lypd6	T	A	2: 50,080,792 (GRCm39)	V160E	probably benign	Het
Muc19	C	T	15: 91,777,101 (GRCm39)		noncoding transcript	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Myo18a	A	G	11: 77,736,591 (GRCm39)	E1564G	probably damaging	Het
Nrxn3	A	G	12: 89,226,971 (GRCm39)	D202G	probably damaging	Het
Palld	C	A	8: 61,978,120 (GRCm39)	G890V	probably damaging	Het
Pcx	C	A	19: 4,651,775 (GRCm39)		probably benign	Het
Plcg1	T	C	2: 160,573,920 (GRCm39)	W62R	probably damaging	Het
Ppa2	C	T	3: 133,076,234 (GRCm39)		probably benign	Het
Ppp1r18	A	G	17: 36,178,888 (GRCm39)	I254M	probably benign	Het
Prune2	A	G	19: 17,101,267 (GRCm39)	E2257G	possibly damaging	Het
Rd3	A	G	1: 191,717,261 (GRCm39)	M244V	probably benign	Het
Rfx5	T	A	3: 94,865,679 (GRCm39)	V326E	probably damaging	Het
Rgs3	G	C	4: 62,544,143 (GRCm39)	R305P	probably damaging	Het
Rpp40	A	G	13: 36,082,970 (GRCm39)	Y173H	probably benign	Het
Ryr3	T	C	2: 112,731,376 (GRCm39)	N645D	probably damaging	Het
Sema3e	T	C	5: 14,302,446 (GRCm39)	V657A	possibly damaging	Het
Serpina3n	T	A	12: 104,379,777 (GRCm39)	V390E	probably damaging	Het
Shank1	A	G	7: 43,962,709 (GRCm39)	Y141C	unknown	Het
Stat2	T	A	10: 128,119,131 (GRCm39)	H428Q	probably damaging	Het
Stat5a	A	T	11: 100,766,452 (GRCm39)	Q378L	probably damaging	Het
Tfrc	G	T	16: 32,442,244 (GRCm39)	V490F	probably damaging	Het
Tnnt1	T	C	7: 4,512,044 (GRCm39)	N155S	probably damaging	Het
Topaz1	T	C	9: 122,619,188 (GRCm39)	Y1262H	possibly damaging	Het
Ubxn8	T	C	8: 34,125,393 (GRCm39)		probably benign	Het
Unk	A	G	11: 115,940,995 (GRCm39)	Y252C	probably damaging	Het
Vmn2r66	A	C	7: 84,654,965 (GRCm39)	M448R	probably damaging	Het
Zfp985	T	C	4: 147,661,566 (GRCm39)	S4P	probably damaging	Het

Other mutations in Zfp386

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Zfp386	APN	12	116,022,788 (GRCm39)	missense	probably benign
IGL02692:Zfp386	APN	12	116,022,855 (GRCm39)	missense	probably damaging	0.96
IGL03071:Zfp386	APN	12	116,022,760 (GRCm39)	missense	probably benign	0.08
F5493:Zfp386	UTSW	12	116,023,922 (GRCm39)	missense	probably damaging	0.99
R0098:Zfp386	UTSW	12	116,022,834 (GRCm39)	nonsense	probably null
R0372:Zfp386	UTSW	12	116,018,436 (GRCm39)	missense	possibly damaging	0.71
R0784:Zfp386	UTSW	12	116,023,540 (GRCm39)	nonsense	probably null
R0866:Zfp386	UTSW	12	116,018,329 (GRCm39)	splice site	probably benign
R0947:Zfp386	UTSW	12	116,023,398 (GRCm39)	missense	probably benign	0.11
R1080:Zfp386	UTSW	12	116,023,426 (GRCm39)	nonsense	probably null
R1517:Zfp386	UTSW	12	116,023,225 (GRCm39)	missense	possibly damaging	0.67
R1597:Zfp386	UTSW	12	116,023,709 (GRCm39)	missense	probably damaging	0.99
R1722:Zfp386	UTSW	12	116,023,526 (GRCm39)	missense	probably damaging	0.99
R2043:Zfp386	UTSW	12	116,022,781 (GRCm39)	missense	probably benign	0.22
R3741:Zfp386	UTSW	12	116,023,170 (GRCm39)	nonsense	probably null
R3742:Zfp386	UTSW	12	116,023,170 (GRCm39)	nonsense	probably null
R3902:Zfp386	UTSW	12	116,023,775 (GRCm39)	missense	probably damaging	1.00
R5012:Zfp386	UTSW	12	116,022,864 (GRCm39)	missense	probably benign
R5590:Zfp386	UTSW	12	116,023,347 (GRCm39)	missense	probably benign	0.41
R5709:Zfp386	UTSW	12	116,023,305 (GRCm39)	missense	probably benign	0.23
R6156:Zfp386	UTSW	12	116,023,526 (GRCm39)	missense	probably damaging	0.99
R6184:Zfp386	UTSW	12	116,024,133 (GRCm39)	missense	possibly damaging	0.64
R6423:Zfp386	UTSW	12	116,023,733 (GRCm39)	missense	probably damaging	0.96
R8015:Zfp386	UTSW	12	116,023,027 (GRCm39)	missense	probably damaging	0.96
R8120:Zfp386	UTSW	12	116,018,573 (GRCm39)	missense	unknown
R8137:Zfp386	UTSW	12	116,023,268 (GRCm39)	missense	possibly damaging	0.91
R9093:Zfp386	UTSW	12	116,023,878 (GRCm39)	nonsense	probably null
R9269:Zfp386	UTSW	12	116,023,283 (GRCm39)	missense	probably benign	0.01
R9320:Zfp386	UTSW	12	116,023,517 (GRCm39)	missense	probably damaging	1.00
R9331:Zfp386	UTSW	12	116,011,433 (GRCm39)	start gained	probably benign
R9536:Zfp386	UTSW	12	116,023,686 (GRCm39)	missense	probably damaging	1.00
R9641:Zfp386	UTSW	12	116,023,330 (GRCm39)	missense	probably benign	0.03
Z1088:Zfp386	UTSW	12	116,018,393 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACCTGGTTATGGGAGGGTGTACAAG -3'
(R):5'- CCACAGGAGACTGGTATTTGCTGAC -3'

Sequencing Primer
(F):5'- tgttgtctttttgttttgtttgtttg -3'
(R):5'- TGCTGACTGAAGAGTATGGC -3'

Posted On

2013-08-06