Mutagenetix > Incidental Mutation

Incidental Mutation 'R4007:Zfp385b'

311504

Institutional Source

Beutler Lab

Gene Symbol

Zfp385b

Ensembl Gene

ENSMUSG00000027016

Gene Name

zinc finger protein 385B

Synonyms

C130013B13Rik, B830010L13Rik, Zfp533

MMRRC Submission

041610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77240966-77648050 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77549836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 83 (G83D)

Ref Sequence

ENSEMBL: ENSMUSP00000107462 (fasta)

Gene Model

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

AlphaFold

Q8BXJ8

Predicted Effect

probably benign
Transcript: ENSMUST00000090766
AA Change: G83D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000088271
Gene: ENSMUSG00000027016
AA Change: G83D

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

unknown
Transcript: ENSMUST00000111829
AA Change: G83D

SMART Domains

Protein: ENSMUSP00000107460
Gene: ENSMUSG00000027016
AA Change: G83D

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: G83D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000107462
Gene: ENSMUSG00000027016
AA Change: G83D

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,895,524 (GRCm39)		probably null	Het
Aff1	A	T	5: 103,932,088 (GRCm39)	K243N	probably benign	Het
Aknad1	T	C	3: 108,682,598 (GRCm39)	I558T	probably benign	Het
Ampd1	A	G	3: 102,999,776 (GRCm39)	I460V	probably damaging	Het
Atp10b	A	T	11: 43,150,679 (GRCm39)	H1459L	probably benign	Het
Card9	T	A	2: 26,243,012 (GRCm39)	R459W	possibly damaging	Het
Chd3	A	T	11: 69,239,827 (GRCm39)	I1667N	probably benign	Het
Col6a3	A	G	1: 90,730,291 (GRCm39)	S1672P	probably damaging	Het
Cul4a	A	G	8: 13,172,859 (GRCm39)	N164S	probably benign	Het
Dhx37	G	A	5: 125,501,995 (GRCm39)		probably benign	Het
Dnah1	T	C	14: 31,025,741 (GRCm39)		probably benign	Het
Elp1	G	A	4: 56,794,139 (GRCm39)	T168I	probably damaging	Het
Erbb4	C	A	1: 68,779,560 (GRCm39)	R72L	probably damaging	Het
F11r	A	G	1: 171,288,916 (GRCm39)	K178R	probably benign	Het
Fan1	A	G	7: 64,016,309 (GRCm39)	L605P	probably damaging	Het
Fcna	A	G	2: 25,516,018 (GRCm39)		probably null	Het
Filip1	A	G	9: 79,726,009 (GRCm39)	I870T	possibly damaging	Het
Gm11595	C	T	11: 99,662,861 (GRCm39)	C273Y	unknown	Het
Gml	T	A	15: 74,685,548 (GRCm39)	I146L	possibly damaging	Het
Gprc5b	G	A	7: 118,583,437 (GRCm39)	A144V	possibly damaging	Het
Htr2a	A	T	14: 74,879,581 (GRCm39)	H70L	probably benign	Het
Ifitm6	T	A	7: 140,596,627 (GRCm39)	I69F	possibly damaging	Het
Iqsec3	A	G	6: 121,353,187 (GRCm39)	S1144P	probably damaging	Het
Kazn	T	C	4: 141,834,203 (GRCm39)	T618A	unknown	Het
Mrps5	C	A	2: 127,433,755 (GRCm39)	T48K	possibly damaging	Het
Mst1	A	G	9: 107,960,147 (GRCm39)	E377G	possibly damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Opn4	A	T	14: 34,321,789 (GRCm39)	S43T	probably benign	Het
Or8k35	T	C	2: 86,424,908 (GRCm39)	D88G	probably benign	Het
Plcb2	T	C	2: 118,541,274 (GRCm39)	E1021G	probably damaging	Het
Pramex1	A	T	X: 134,514,374 (GRCm39)	L305Q	probably damaging	Het
Rbsn	T	A	6: 92,166,800 (GRCm39)	T615S	probably benign	Het
Reg1	A	G	6: 78,404,013 (GRCm39)	D60G	probably null	Het
Ros1	A	T	10: 51,994,328 (GRCm39)	D1317E	probably damaging	Het
Rpap2	A	G	5: 107,751,738 (GRCm39)	I129V	probably damaging	Het
Rubcnl	G	T	14: 75,287,143 (GRCm39)	V604L	possibly damaging	Het
Slc26a4	T	A	12: 31,590,532 (GRCm39)	K374*	probably null	Het
Slc4a4	T	A	5: 89,362,452 (GRCm39)	S854R	probably damaging	Het
Sv2c	A	G	13: 96,123,341 (GRCm39)		probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tnik	A	G	3: 28,658,430 (GRCm39)	S572G	probably damaging	Het
Trbv13-3	T	C	6: 41,107,120 (GRCm39)	C14R	probably benign	Het
Ttc7	G	A	17: 87,597,679 (GRCm39)	D84N	possibly damaging	Het
Ubtd1	G	T	19: 42,020,555 (GRCm39)	G100*	probably null	Het
Vmn2r18	A	T	5: 151,508,711 (GRCm39)	W138R	probably damaging	Het
Zan	T	C	5: 137,462,201 (GRCm39)	T993A	unknown	Het
Zfp493	A	G	13: 67,932,038 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTTACTCTAGAGAGACACCCTACG -3'
(R):5'- TCCGGGGCTTTGAAGAAAAG -3'

Sequencing Primer
(F):5'- ACCCTACGTGTAGTGGCAG -3'
(R):5'- TTAAAGAACGACAGGCCTGG -3'

Posted On

2015-04-29