Mutagenetix > Incidental Mutation

Incidental Mutation 'R8692:Mindy1'

668417

Institutional Source

Beutler Lab

Gene Symbol

Mindy1

Ensembl Gene

ENSMUSG00000038712

Gene Name

MINDY lysine 48 deubiquitinase 1

Synonyms

4930504E06Rik, cI-40, NF-E2 inducible protein, 1810005H09Rik, Fam63a

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95281345-95296166 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95292276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 243 (D243G)

Ref Sequence

ENSEMBL: ENSMUSP00000102805 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015846] [ENSMUST00000039537] [ENSMUST00000107183] [ENSMUST00000107187] [ENSMUST00000143498] [ENSMUST00000164406] [ENSMUST00000168223]

AlphaFold

Q76LS9

Predicted Effect

probably benign
Transcript: ENSMUST00000015846

SMART Domains

Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702

Domain	Start	End	E-Value	Type
ANX	58	110	1.48e-17	SMART
ANX	130	182	6.56e-10	SMART
ANX	212	264	1.52e-1	SMART
ANX	287	339	1.03e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000039537
AA Change: D243G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043910
Gene: ENSMUSG00000038712
AA Change: D243G

Domain	Start	End	E-Value	Type
low complexity region	35	54	N/A	INTRINSIC
low complexity region	67	86	N/A	INTRINSIC
Pfam:DUF544	143	268	7.7e-51	PFAM
low complexity region	369	382	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
low complexity region	405	423	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107183

SMART Domains

Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702

Domain	Start	End	E-Value	Type
ANX	58	110	1.48e-17	SMART
ANX	130	182	6.56e-10	SMART
ANX	212	264	1.52e-1	SMART
ANX	287	339	1.03e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107187
AA Change: D243G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102805
Gene: ENSMUSG00000038712
AA Change: D243G

Domain	Start	End	E-Value	Type
low complexity region	35	54	N/A	INTRINSIC
low complexity region	67	86	N/A	INTRINSIC
Pfam:DUF544	143	266	7e-42	PFAM
low complexity region	369	382	N/A	INTRINSIC
low complexity region	400	406	N/A	INTRINSIC
low complexity region	414	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143498

Predicted Effect

probably benign
Transcript: ENSMUST00000164406

SMART Domains

Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702

Domain	Start	End	E-Value	Type
ANX	58	110	1.48e-17	SMART
ANX	130	182	6.56e-10	SMART
ANX	212	264	1.52e-1	SMART
ANX	287	339	1.03e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168223
AA Change: D243G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127839
Gene: ENSMUSG00000038712
AA Change: D243G

Domain	Start	End	E-Value	Type
low complexity region	35	54	N/A	INTRINSIC
low complexity region	67	86	N/A	INTRINSIC
Pfam:DUF544	143	268	7.7e-51	PFAM
low complexity region	369	382	N/A	INTRINSIC
low complexity region	386	397	N/A	INTRINSIC
low complexity region	405	423	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,288,715	I1402S	probably damaging	Het
Abca9	T	C	11: 110,141,583	D736G	probably benign	Het
Acy1	T	C	9: 106,433,178	E377G	probably damaging	Het
Apob	G	A	12: 8,008,270	V2251M	probably damaging	Het
Arhgap23	C	A	11: 97,454,496	T657K	probably damaging	Het
Cabin1	T	C	10: 75,751,576	K129R	probably benign	Het
Cdh24	A	T	14: 54,638,336	F259I	probably benign	Het
Cops6	A	G	5: 138,163,821	N307S	probably benign	Het
Cyp4a31	G	A	4: 115,566,572	V143M	probably damaging	Het
Deaf1	A	T	7: 141,297,531	I561K	probably benign	Het
Dnah7a	A	C	1: 53,433,016	S3531A	probably benign	Het
Dnajc14	T	A	10: 128,807,031	I274N	probably damaging	Het
Dnmt1	A	G	9: 20,941,781	L48S	probably damaging	Het
Efna4	A	T	3: 89,335,242	I115N	probably damaging	Het
Ermp1	T	A	19: 29,616,693	L692F	probably benign	Het
Fcho2	GT	G	13: 98,745,874		probably null	Het
Fermt2	A	T	14: 45,504,642	C82*	probably null	Het
Fuk	A	T	8: 110,889,090	C536S	probably benign	Het
Gabra6	G	T	11: 42,319,710	D61E	probably damaging	Het
Gdpd4	T	A	7: 98,040,933	S611T	probably benign	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,667,034		probably benign	Het
Gm17430	G	A	18: 9,726,336	A112V	probably benign	Het
Gm2381	A	T	7: 42,822,647	L2Q	probably damaging	Het
Gm9268	G	T	7: 43,047,684	A722S	probably benign	Het
Hif3a	A	T	7: 17,054,776	L90Q	probably benign	Het
Irf3	C	T	7: 45,000,465	Q168*	probably null	Het
Krt82	T	G	15: 101,548,393	D184A	possibly damaging	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lrrc49	A	G	9: 60,687,162	S28P	probably damaging	Het
Mfsd11	T	A	11: 116,861,617	N197K	probably benign	Het
Mphosph9	A	T	5: 124,312,812	W299R	probably damaging	Het
Mst1r	G	T	9: 107,914,851	R862L	possibly damaging	Het
Nasp	T	A	4: 116,612,083		probably null	Het
Ncapg2	T	C	12: 116,450,429	I1073T	probably damaging	Het
Nek2	A	T	1: 191,822,633	K152N	probably benign	Het
Neurod2	T	C	11: 98,328,134	E68G	probably benign	Het
Olfr317	T	C	11: 58,732,769	Y132C	probably damaging	Het
Olfr350	A	T	2: 36,850,084	I13F	probably benign	Het
P4ha3	T	A	7: 100,306,021	I361N	probably damaging	Het
Pcdh15	T	A	10: 74,453,973	S875T	possibly damaging	Het
Pde7b	G	T	10: 20,547,893	P79Q	probably benign	Het
Phb2	G	A	6: 124,715,134	A228T	probably damaging	Het
Piezo2	A	T	18: 63,092,900	C888*	probably null	Het
Pkhd1	A	T	1: 20,392,150	L2060Q	probably damaging	Het
Pms1	T	C	1: 53,206,893	M496V	probably benign	Het
Ppfibp1	C	T	6: 146,990,515	T91I	probably benign	Het
Ppp1r9b	T	C	11: 95,000,251	L557P	probably damaging	Het
Ppp2r5c	G	T	12: 110,522,598	V68L	probably benign	Het
Qrfp	T	A	2: 31,808,785	H45L	probably benign	Het
Rasgrp1	G	A	2: 117,284,872	T745I	probably damaging	Het
Rnf144a	G	A	12: 26,320,973	T163I	probably benign	Het
Sbsn	A	T	7: 30,752,097	H179L	unknown	Het
Simc1	G	A	13: 54,525,380	V514I	probably benign	Het
Slc35d1	A	G	4: 103,189,854	M249T		Het
Slfn4	T	A	11: 83,188,883	H466Q	possibly damaging	Het
Stab2	A	T	10: 86,972,930	C172S	probably damaging	Het
Tanc1	T	C	2: 59,843,645	I1698T	probably benign	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tiam2	A	C	17: 3,428,807	D605A	probably damaging	Het
Tmed4	A	T	11: 6,273,822	D151E	probably benign	Het
Trim62	A	T	4: 128,900,672	I211F	possibly damaging	Het
Ttpa	A	G	4: 20,008,585	D49G	probably benign	Het
Usf3	T	C	16: 44,219,740	S1528P	probably benign	Het
Usp34	C	T	11: 23,429,325	T1991I		Het
Vash1	G	A	12: 86,689,089	V250M	possibly damaging	Het
Vmn1r199	T	C	13: 22,383,639	*368Q	probably null	Het
Vmn1r74	A	G	7: 11,847,045	T91A	probably benign	Het
Vmn1r8	T	C	6: 57,036,572	F203L	probably benign	Het
Vmn2r13	G	T	5: 109,171,648	Q489K	probably benign	Het
Zfp385b	A	T	2: 77,719,627	V38E	probably damaging	Het
Zfp820	A	G	17: 21,818,895	I484T	probably benign	Het

Other mutations in Mindy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Mindy1	APN	3	95288390	missense	probably damaging	1.00
IGL03380:Mindy1	APN	3	95291018	splice site	probably benign
ANU18:Mindy1	UTSW	3	95288390	missense	probably damaging	1.00
PIT4576001:Mindy1	UTSW	3	95288069	missense	probably benign	0.12
R4647:Mindy1	UTSW	3	95282743	unclassified	probably benign
R5076:Mindy1	UTSW	3	95295399	missense	probably benign	0.01
R5875:Mindy1	UTSW	3	95294814	missense	probably damaging	0.98
R5938:Mindy1	UTSW	3	95293756	missense	probably benign	0.18
R8112:Mindy1	UTSW	3	95294811	missense	probably damaging	1.00
R9356:Mindy1	UTSW	3	95295279	missense	probably benign	0.20
R9357:Mindy1	UTSW	3	95295279	missense	probably benign	0.20
R9358:Mindy1	UTSW	3	95295279	missense	probably benign	0.20
X0028:Mindy1	UTSW	3	95294895	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGGTTTGTAAGAAAGCCAGAC -3'
(R):5'- TGACTCCGCCCAACATTAG -3'

Sequencing Primer
(F):5'- GCTAGACCAGCCATCTTGTC -3'
(R):5'- ACATTAGAATCCAAGGAATCCTGG -3'

Posted On

2021-04-30