Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03243:Zfp385c'

414315

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp385c

Ensembl Gene

ENSMUSG00000014198

Gene Name

zinc finger protein 385C

Synonyms

A930006D11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

100518369-100583281 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100525573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 56 (V56D)

Ref Sequence

ENSEMBL: ENSMUSP00000099408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103119] [ENSMUST00000153494]

AlphaFold

A2A5E6

Predicted Effect

probably damaging
Transcript: ENSMUST00000103119
AA Change: V56D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099408
Gene: ENSMUSG00000014198
AA Change: V56D

Domain	Start	End	E-Value	Type
low complexity region	2	24	N/A	INTRINSIC
ZnF_U1	72	108	4.36e-2	SMART
ZnF_C2H2	77	99	1.51e0	SMART
low complexity region	125	141	N/A	INTRINSIC
low complexity region	143	161	N/A	INTRINSIC
low complexity region	181	200	N/A	INTRINSIC
ZnF_U1	225	259	5.72e-4	SMART
ZnF_C2H2	228	252	7.11e0	SMART
ZnF_U1	294	328	7.44e-3	SMART
ZnF_C2H2	297	321	4.34e0	SMART
low complexity region	347	365	N/A	INTRINSIC
low complexity region	382	405	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148560

Predicted Effect

unknown
Transcript: ENSMUST00000151589
AA Change: V135D

SMART Domains

Protein: ENSMUSP00000119259
Gene: ENSMUSG00000014198
AA Change: V135D

Domain	Start	End	E-Value	Type
ZnF_U1	40	74	6.04e-3	SMART
ZnF_C2H2	43	67	6.31e1	SMART
low complexity region	79	104	N/A	INTRINSIC
ZnF_U1	152	188	4.36e-2	SMART
ZnF_C2H2	157	179	1.51e0	SMART
low complexity region	205	221	N/A	INTRINSIC
low complexity region	223	241	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153494

SMART Domains

Protein: ENSMUSP00000115268
Gene: ENSMUSG00000014198

Domain	Start	End	E-Value	Type
Pfam:zf-met	42	67	6.4e-8	PFAM
low complexity region	79	102	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,733 (GRCm39)	T586A	probably benign	Het
Agtr1b	T	C	3: 20,369,959 (GRCm39)	T216A	probably benign	Het
Ankdd1a	T	C	9: 65,408,752 (GRCm39)	R505G	probably benign	Het
Anxa3	A	T	5: 96,976,551 (GRCm39)		probably benign	Het
Atp6v1c2	C	T	12: 17,339,122 (GRCm39)	V210I	probably benign	Het
BC034090	G	A	1: 155,101,401 (GRCm39)	P288S	possibly damaging	Het
Catsper2	T	C	2: 121,237,300 (GRCm39)	H200R	probably benign	Het
Ceacam23	A	T	7: 17,652,574 (GRCm39)		noncoding transcript	Het
Cntnap5c	G	T	17: 58,409,171 (GRCm39)	A470S	probably benign	Het
Fcho2	G	A	13: 98,913,892 (GRCm39)		probably benign	Het
Frem1	A	C	4: 82,932,206 (GRCm39)	L165R	probably damaging	Het
Gpn1	G	A	5: 31,668,175 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,242,301 (GRCm39)	N181S	probably benign	Het
Heatr5b	A	T	17: 79,070,509 (GRCm39)		probably benign	Het
Kat6a	A	G	8: 23,400,238 (GRCm39)	N333S	possibly damaging	Het
Lrp5	T	C	19: 3,680,159 (GRCm39)	T442A	probably benign	Het
Myo15a	G	T	11: 60,387,344 (GRCm39)	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,064,457 (GRCm39)	D957A	probably damaging	Het
Nup58	T	A	14: 60,459,065 (GRCm39)	T521S	probably benign	Het
Or7e165	T	G	9: 19,694,564 (GRCm39)	I45S	probably damaging	Het
Plek	C	A	11: 16,945,319 (GRCm39)	V4L	possibly damaging	Het
Sell	T	A	1: 163,892,911 (GRCm39)	H42Q	possibly damaging	Het
Slfn8	A	T	11: 82,894,533 (GRCm39)	I702K	probably damaging	Het
Svep1	T	C	4: 58,133,387 (GRCm39)	I573V	probably benign	Het
Tgm1	T	A	14: 55,943,364 (GRCm39)	I526F	probably damaging	Het
Tmem30c	A	T	16: 57,096,513 (GRCm39)	S203T	probably benign	Het
Tox	T	C	4: 6,697,597 (GRCm39)	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 53,007,555 (GRCm39)		probably benign	Het
Unc13d	A	T	11: 115,958,670 (GRCm39)	V784D	probably benign	Het
Vmn2r68	A	G	7: 84,882,963 (GRCm39)	V263A	possibly damaging	Het
Znrf2	A	T	6: 54,861,754 (GRCm39)	I222L	possibly damaging	Het

Other mutations in Zfp385c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02156:Zfp385c	APN	11	100,519,845 (GRCm39)	missense	probably damaging	1.00
IGL02542:Zfp385c	APN	11	100,520,742 (GRCm39)	missense	probably damaging	1.00
IGL02579:Zfp385c	APN	11	100,521,605 (GRCm39)	missense	probably damaging	1.00
R0054:Zfp385c	UTSW	11	100,520,782 (GRCm39)	missense	probably benign	0.08
R0054:Zfp385c	UTSW	11	100,520,782 (GRCm39)	missense	probably benign	0.08
R1158:Zfp385c	UTSW	11	100,520,709 (GRCm39)	unclassified	probably benign
R1884:Zfp385c	UTSW	11	100,521,532 (GRCm39)	missense	probably benign
R1892:Zfp385c	UTSW	11	100,528,630 (GRCm39)	missense	probably damaging	1.00
R6010:Zfp385c	UTSW	11	100,548,363 (GRCm39)	missense	probably benign	0.00
R6020:Zfp385c	UTSW	11	100,523,594 (GRCm39)	missense	probably benign
R6901:Zfp385c	UTSW	11	100,523,585 (GRCm39)	missense	probably benign	0.06
R7008:Zfp385c	UTSW	11	100,521,513 (GRCm39)	missense	probably damaging	0.99
R7272:Zfp385c	UTSW	11	100,520,865 (GRCm39)	missense	possibly damaging	0.50
R8271:Zfp385c	UTSW	11	100,548,291 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp385c	UTSW	11	100,548,257 (GRCm39)	missense	probably damaging	0.99
Z1177:Zfp385c	UTSW	11	100,528,599 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02