Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Zfp386'

167121

Institutional Source

Beutler Lab

Gene Symbol

Zfp386

Ensembl Gene

ENSMUSG00000042063

Gene Name

zinc finger protein 386 (Kruppel-like)

Synonyms

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

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

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116011334-116026851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116023225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 314 (S314R)

Ref Sequence

ENSEMBL: ENSMUSP00000138305 (fasta)

Gene Model

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

AlphaFold

Q1WWJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000073551
AA Change: S279R

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073241
Gene: ENSMUSG00000042063
AA Change: S279R

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

possibly damaging
Transcript: ENSMUST00000183125
AA Change: S314R

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138305
Gene: ENSMUSG00000042063
AA Change: S314R

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Uck2	T	C	1: 167,062,293 (GRCm39)	D156G	probably damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	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
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
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'- GCAAGGACAGATACTTTTGATGAGCCA -3'
(R):5'- tctTGGAATGCTGAATTTTACGCCTAGT -3'

Sequencing Primer
(F):5'- AGTGATCAAGTCGAGTCTTCC -3'
(R):5'- GTTACACTGCTGGATAGTAAGCT -3'

Posted On

2014-04-13