Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01684:Zfp385b'

103880

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp385b

Ensembl Gene

ENSMUSG00000027016

Gene Name

zinc finger protein 385B

Synonyms

C130013B13Rik, B830010L13Rik, Zfp533

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01684

Quality Score

Status

Chromosome

Chromosomal Location

77240966-77648050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77550019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 22 (D22G)

Ref Sequence

ENSEMBL: ENSMUSP00000107460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090766] [ENSMUST00000111829] [ENSMUST00000111831]

AlphaFold

Q8BXJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000090766
AA Change: D22G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000088271
Gene: ENSMUSG00000027016
AA Change: D22G

Domain	Start	End	E-Value	Type
ZnF_U1	30	65	3.07e-4	SMART
ZnF_C2H2	34	58	3.21e1	SMART
low complexity region	66	81	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
ZnF_U1	166	200	9.3e-4	SMART
ZnF_C2H2	169	193	5.07e0	SMART
low complexity region	245	256	N/A	INTRINSIC
ZnF_U1	294	328	2.29e-3	SMART
ZnF_C2H2	297	321	1.47e1	SMART
ZnF_U1	357	391	8.09e-4	SMART
ZnF_C2H2	360	384	6.57e-1	SMART
low complexity region	429	452	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111829
AA Change: D22G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107460
Gene: ENSMUSG00000027016
AA Change: D22G

Domain	Start	End	E-Value	Type
Pfam:zf-met	33	58	3.2e-9	PFAM
Pfam:zf-C2H2_jaz	34	59	9.1e-8	PFAM
low complexity region	66	81	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111831
AA Change: D22G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107462
Gene: ENSMUSG00000027016
AA Change: D22G

Domain	Start	End	E-Value	Type
ZnF_U1	30	65	3.07e-4	SMART
ZnF_C2H2	34	58	3.21e1	SMART
low complexity region	66	81	N/A	INTRINSIC
low complexity region	83	92	N/A	INTRINSIC
ZnF_U1	166	200	9.3e-4	SMART
ZnF_C2H2	169	193	5.07e0	SMART
low complexity region	245	256	N/A	INTRINSIC
ZnF_U1	294	328	2.29e-3	SMART
ZnF_C2H2	297	321	1.47e1	SMART
ZnF_U1	357	391	8.09e-4	SMART
ZnF_C2H2	360	384	6.57e-1	SMART
low complexity region	429	452	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ammecr1l	G	T	18: 31,904,821 (GRCm39)	V21F	probably damaging	Het
Aox1	G	A	1: 58,116,740 (GRCm39)		probably null	Het
BC024139	A	G	15: 76,008,885 (GRCm39)	L283P	probably damaging	Het
Cacna1h	C	T	17: 25,607,690 (GRCm39)	G876S	probably damaging	Het
Ccdc66	T	C	14: 27,222,206 (GRCm39)	E179G	possibly damaging	Het
Ckap5	T	G	2: 91,385,699 (GRCm39)	D182E	probably benign	Het
Clk1	A	G	1: 58,456,424 (GRCm39)		probably null	Het
Dhx34	G	A	7: 15,937,204 (GRCm39)	T831M	probably damaging	Het
Enox1	T	C	14: 77,816,533 (GRCm39)	I171T	possibly damaging	Het
Fscn2	G	A	11: 120,258,131 (GRCm39)	R351H	probably damaging	Het
Gabbr2	G	A	4: 46,736,501 (GRCm39)	S460L	probably benign	Het
Gramd1a	A	G	7: 30,838,330 (GRCm39)	S308P	possibly damaging	Het
Guca1a	T	C	17: 47,706,068 (GRCm39)	D137G	probably null	Het
Heatr5a	G	A	12: 52,002,294 (GRCm39)	T214I	probably benign	Het
Klf7	T	C	1: 64,160,051 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,359,723 (GRCm39)	S1854P	probably damaging	Het
Mau2	A	T	8: 70,481,895 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,726,857 (GRCm39)	I2639V	probably benign	Het
Mylk	A	G	16: 34,792,310 (GRCm39)	M1544V	possibly damaging	Het
Ogdh	G	T	11: 6,292,546 (GRCm39)	V420L	probably damaging	Het
Or13a21	T	C	7: 139,998,828 (GRCm39)	N286S	probably damaging	Het
Or5b105	A	G	19: 13,080,353 (GRCm39)	F105S	possibly damaging	Het
Pcm1	A	G	8: 41,710,960 (GRCm39)	T77A	probably benign	Het
Piezo2	T	A	18: 63,216,241 (GRCm39)	I947F	probably damaging	Het
Prrc2c	A	T	1: 162,534,031 (GRCm39)		probably benign	Het
Ptch2	A	G	4: 116,961,984 (GRCm39)	E107G	probably damaging	Het
Rmdn3	T	C	2: 118,978,055 (GRCm39)	E182G	probably damaging	Het
Rpl23a-ps3	C	T	14: 33,892,745 (GRCm39)		noncoding transcript	Het
Sorl1	T	C	9: 41,892,007 (GRCm39)	D1881G	probably damaging	Het
Tbc1d19	A	G	5: 54,014,221 (GRCm39)	N283S	probably benign	Het
Tcf20	A	G	15: 82,741,361 (GRCm39)	F30S	probably damaging	Het
Tiparp	A	T	3: 65,460,754 (GRCm39)	K581I	probably damaging	Het
Tle3	T	C	9: 61,310,728 (GRCm39)		probably benign	Het
Ubr3	C	A	2: 69,846,502 (GRCm39)	Y1608*	probably null	Het
Vmn1r59	T	C	7: 5,457,299 (GRCm39)	T154A	probably benign	Het
Vta1	A	G	10: 14,559,875 (GRCm39)	I115T	probably damaging	Het
Wwtr1	C	A	3: 57,483,210 (GRCm39)	R31L	probably damaging	Het
Zfp516	A	G	18: 82,975,326 (GRCm39)	E508G	probably damaging	Het
Zfp735	T	A	11: 73,581,191 (GRCm39)	V76E	possibly damaging	Het

Other mutations in Zfp385b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Zfp385b	APN	2	77,307,122 (GRCm39)	missense	probably damaging	1.00
IGL02354:Zfp385b	APN	2	77,280,647 (GRCm39)	missense	probably damaging	1.00
IGL02361:Zfp385b	APN	2	77,280,647 (GRCm39)	missense	probably damaging	1.00
IGL02939:Zfp385b	APN	2	77,242,403 (GRCm39)	missense	probably benign	0.00
R0008:Zfp385b	UTSW	2	77,246,291 (GRCm39)	missense	probably benign	0.27
R0008:Zfp385b	UTSW	2	77,246,291 (GRCm39)	missense	probably benign	0.27
R0243:Zfp385b	UTSW	2	77,246,072 (GRCm39)	critical splice donor site	probably null
R0403:Zfp385b	UTSW	2	77,307,189 (GRCm39)	missense	probably damaging	0.97
R1566:Zfp385b	UTSW	2	77,246,257 (GRCm39)	missense	probably benign	0.05
R1799:Zfp385b	UTSW	2	77,246,316 (GRCm39)	missense	probably benign	0.13
R3618:Zfp385b	UTSW	2	77,246,233 (GRCm39)	missense	probably benign
R3619:Zfp385b	UTSW	2	77,246,233 (GRCm39)	missense	probably benign
R4007:Zfp385b	UTSW	2	77,549,836 (GRCm39)	missense	probably benign	0.00
R6290:Zfp385b	UTSW	2	77,280,612 (GRCm39)	missense	possibly damaging	0.90
R6298:Zfp385b	UTSW	2	77,244,323 (GRCm39)	missense	possibly damaging	0.83
R6383:Zfp385b	UTSW	2	77,246,185 (GRCm39)	missense	probably benign	0.01
R6482:Zfp385b	UTSW	2	77,549,992 (GRCm39)	small insertion	probably benign
R6484:Zfp385b	UTSW	2	77,549,992 (GRCm39)	small insertion	probably benign
R6856:Zfp385b	UTSW	2	77,246,138 (GRCm39)	missense	probably damaging	1.00
R7276:Zfp385b	UTSW	2	77,280,624 (GRCm39)	missense	probably damaging	1.00
R8692:Zfp385b	UTSW	2	77,549,971 (GRCm39)	missense	probably damaging	1.00
R8982:Zfp385b	UTSW	2	77,242,300 (GRCm39)	missense	probably damaging	0.96
R9299:Zfp385b	UTSW	2	77,246,115 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21