Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02354:Zfp385b'

289615

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 #

IGL02354

Quality Score

Status

Chromosome

Chromosomal Location

77240966-77648050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77280647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 97 (E97G)

Ref Sequence

ENSEMBL: ENSMUSP00000126801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090766] [ENSMUST00000111830] [ENSMUST00000111831] [ENSMUST00000171063]

AlphaFold

Q8BXJ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000090766
AA Change: E185G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000088271
Gene: ENSMUSG00000027016
AA Change: E185G

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

probably damaging
Transcript: ENSMUST00000111830
AA Change: E71G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107461
Gene: ENSMUSG00000027016
AA Change: E71G

Domain	Start	End	E-Value	Type
ZnF_U1	52	86	9.3e-4	SMART
ZnF_C2H2	55	79	5.07e0	SMART
low complexity region	131	142	N/A	INTRINSIC
ZnF_U1	180	214	2.29e-3	SMART
ZnF_C2H2	183	207	1.47e1	SMART
ZnF_U1	243	277	8.09e-4	SMART
ZnF_C2H2	246	270	6.57e-1	SMART
low complexity region	315	338	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111831
AA Change: E185G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107462
Gene: ENSMUSG00000027016
AA Change: E185G

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

noncoding transcript
Transcript: ENSMUST00000135756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145251

Predicted Effect

probably damaging
Transcript: ENSMUST00000171063
AA Change: E97G

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

SMART Domains

Protein: ENSMUSP00000126801
Gene: ENSMUSG00000027016
AA Change: E97G

Domain	Start	End	E-Value	Type
ZnF_U1	78	112	9.3e-4	SMART
ZnF_C2H2	81	105	5.07e0	SMART
low complexity region	157	168	N/A	INTRINSIC
ZnF_U1	206	240	2.29e-3	SMART
ZnF_C2H2	209	233	1.47e1	SMART
ZnF_U1	269	303	8.09e-4	SMART
ZnF_C2H2	272	296	6.57e-1	SMART
low complexity region	341	364	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp1	A	C	6: 55,322,498 (GRCm39)	L164F	possibly damaging	Het
Bfsp1	T	C	2: 143,673,907 (GRCm39)	E261G	probably damaging	Het
Brinp2	A	G	1: 158,074,748 (GRCm39)	C458R	probably damaging	Het
Cacng3	T	G	7: 122,271,169 (GRCm39)	M58R	possibly damaging	Het
Cfap43	A	T	19: 47,885,852 (GRCm39)	C254*	probably null	Het
Cnga1	T	C	5: 72,774,061 (GRCm39)		probably null	Het
Dis3	A	T	14: 99,317,148 (GRCm39)	Y765*	probably null	Het
Dpep1	T	A	8: 123,926,957 (GRCm39)	S260R	probably benign	Het
Elmod1	A	G	9: 53,838,842 (GRCm39)	L106P	probably damaging	Het
Fut10	A	G	8: 31,691,398 (GRCm39)	Y81C	probably damaging	Het
Fzd10	T	A	5: 128,678,932 (GRCm39)	D217E	possibly damaging	Het
Gap43	T	C	16: 42,160,871 (GRCm39)		probably benign	Het
Gigyf1	T	C	5: 137,517,989 (GRCm39)		probably benign	Het
Gpc5	C	T	14: 115,370,699 (GRCm39)	R175*	probably null	Het
Gpi-ps	T	C	8: 5,690,896 (GRCm39)		noncoding transcript	Het
Gpr61	A	G	3: 108,057,534 (GRCm39)	S376P	probably damaging	Het
Kcna1	C	A	6: 126,619,869 (GRCm39)	Q150H	probably damaging	Het
Lama5	A	T	2: 179,835,677 (GRCm39)	C1225*	probably null	Het
Lrrc25	A	T	8: 71,070,477 (GRCm39)	D86V	probably benign	Het
Madd	A	T	2: 90,992,543 (GRCm39)	V1043E	probably benign	Het
Mov10	A	T	3: 104,711,437 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,782,250 (GRCm39)	H46L	possibly damaging	Het
Nos3	A	T	5: 24,572,621 (GRCm39)	I187F	probably damaging	Het
Or4c1	T	A	2: 89,133,526 (GRCm39)	M137L	probably benign	Het
Or5p53	T	A	7: 107,533,484 (GRCm39)	Y252*	probably null	Het
Or6c69c	A	G	10: 129,911,143 (GRCm39)	Y288C	probably damaging	Het
Pgap1	T	C	1: 54,551,975 (GRCm39)	T486A	probably benign	Het
Prdm9	C	T	17: 15,783,109 (GRCm39)	V58M	probably damaging	Het
Prkd2	A	G	7: 16,581,583 (GRCm39)	Y146C	probably damaging	Het
Psmd9	G	T	5: 123,386,379 (GRCm39)	R175I	probably damaging	Het
Pxdn	A	G	12: 30,049,188 (GRCm39)	D618G	probably damaging	Het
Rgs6	A	T	12: 82,665,393 (GRCm39)		probably benign	Het
Rrm2	G	T	12: 24,761,438 (GRCm39)		probably benign	Het
Sall1	G	T	8: 89,759,677 (GRCm39)	S142R	probably benign	Het
Shank3	T	C	15: 89,388,536 (GRCm39)	V376A	probably damaging	Het
Slc5a10	A	G	11: 61,610,666 (GRCm39)		probably null	Het
Slfn3	A	T	11: 83,104,068 (GRCm39)	Q313L	possibly damaging	Het
Snapc4	A	G	2: 26,257,319 (GRCm39)		probably benign	Het
Sptbn1	A	T	11: 30,060,783 (GRCm39)	F2062L	probably damaging	Het
Tbc1d10a	T	C	11: 4,165,047 (GRCm39)	V500A	probably benign	Het
Tcea1	T	C	1: 4,966,570 (GRCm39)		probably benign	Het
Thsd7a	T	C	6: 12,348,192 (GRCm39)		probably benign	Het
Tm9sf4	C	T	2: 153,029,570 (GRCm39)	T173M	probably benign	Het
Tmtc2	T	C	10: 105,107,387 (GRCm39)	T709A	probably benign	Het
Zim1	A	T	7: 6,685,873 (GRCm39)		probably null	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
IGL01684:Zfp385b	APN	2	77,550,019 (GRCm39)	missense	possibly damaging	0.86
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

2015-04-16