Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Mindy4'

273651

Institutional Source

Beutler Lab

Gene Symbol

Mindy4

Ensembl Gene

ENSMUSG00000038022

Gene Name

MINDY lysine 48 deubiquitinase 4

Synonyms

C330043M08Rik, LOC384387, Fam188b

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55203383-55320222 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55216525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 68 (R68G)

Ref Sequence

ENSEMBL: ENSMUSP00000145151 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053094] [ENSMUST00000204842]

AlphaFold

Q3UQI9

Predicted Effect

probably benign
Transcript: ENSMUST00000053094
AA Change: R68G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: R68G

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	224	240	N/A	INTRINSIC
low complexity region	265	277	N/A	INTRINSIC
DUF4205	403	739	1.47e-187	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204842
AA Change: R68G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000145151
Gene: ENSMUSG00000038022
AA Change: R68G

Domain	Start	End	E-Value	Type
low complexity region	154	166	N/A	INTRINSIC
low complexity region	224	240	N/A	INTRINSIC
low complexity region	265	277	N/A	INTRINSIC
DUF4205	403	591	6.19e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	Het

Other mutations in Mindy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Mindy4	APN	6	55284742	splice site	probably benign
IGL01483:Mindy4	APN	6	55216685	missense	probably damaging	1.00
IGL01721:Mindy4	APN	6	55223999	missense	probably damaging	1.00
IGL01965:Mindy4	APN	6	55260532	splice site	probably benign
IGL02214:Mindy4	APN	6	55216651	missense	possibly damaging	0.88
IGL03058:Mindy4	APN	6	55308198	missense	probably damaging	1.00
IGL03077:Mindy4	APN	6	55309330	missense	probably damaging	1.00
IGL03296:Mindy4	APN	6	55297753	critical splice donor site	probably null
R0383:Mindy4	UTSW	6	55276634	missense	probably benign	0.00
R0384:Mindy4	UTSW	6	55216684	missense	probably damaging	1.00
R0636:Mindy4	UTSW	6	55276585	missense	possibly damaging	0.73
R0848:Mindy4	UTSW	6	55318286	nonsense	probably null
R1171:Mindy4	UTSW	6	55255616	missense	possibly damaging	0.75
R1210:Mindy4	UTSW	6	55284813	missense	possibly damaging	0.92
R1341:Mindy4	UTSW	6	55255616	missense	probably benign	0.00
R2030:Mindy4	UTSW	6	55211262	missense	probably damaging	1.00
R2127:Mindy4	UTSW	6	55218265	missense	probably benign	0.05
R2237:Mindy4	UTSW	6	55301070	missense	probably damaging	1.00
R2238:Mindy4	UTSW	6	55301070	missense	probably damaging	1.00
R2250:Mindy4	UTSW	6	55300949	missense	probably damaging	0.99
R2571:Mindy4	UTSW	6	55284785	missense	probably damaging	1.00
R2846:Mindy4	UTSW	6	55278100	missense	probably damaging	1.00
R3001:Mindy4	UTSW	6	55218364	missense	probably benign	0.21
R3002:Mindy4	UTSW	6	55218364	missense	probably benign	0.21
R4167:Mindy4	UTSW	6	55224346	missense	possibly damaging	0.93
R4767:Mindy4	UTSW	6	55260565	missense	probably damaging	0.98
R4812:Mindy4	UTSW	6	55279103	missense	possibly damaging	0.64
R5109:Mindy4	UTSW	6	55216745	splice site	probably null
R5203:Mindy4	UTSW	6	55255661	missense	probably benign	0.00
R5221:Mindy4	UTSW	6	55224107	missense	probably benign
R5628:Mindy4	UTSW	6	55260594	missense	probably damaging	0.98
R6265:Mindy4	UTSW	6	55301064	missense	probably damaging	0.99
R6596:Mindy4	UTSW	6	55224016	missense	probably damaging	0.99
R7084:Mindy4	UTSW	6	55278235	missense	probably benign
R7350:Mindy4	UTSW	6	55301025	missense	probably damaging	0.97
R7535:Mindy4	UTSW	6	55297753	critical splice donor site	probably null
R7625:Mindy4	UTSW	6	55276613	missense	possibly damaging	0.95
R8052:Mindy4	UTSW	6	55300992	missense	probably damaging	0.99
R8727:Mindy4	UTSW	6	55279070	unclassified	probably benign
R8884:Mindy4	UTSW	6	55278238	missense	probably benign	0.00
R8886:Mindy4	UTSW	6	55278238	missense	probably benign	0.00
R8890:Mindy4	UTSW	6	55278238	missense	probably benign	0.00
R8892:Mindy4	UTSW	6	55278238	missense	probably benign	0.00
R8893:Mindy4	UTSW	6	55278238	missense	probably benign	0.00
R8894:Mindy4	UTSW	6	55278238	missense	probably benign	0.00
R8896:Mindy4	UTSW	6	55278238	missense	probably benign	0.00
R8932:Mindy4	UTSW	6	55224130	missense	probably benign
R9018:Mindy4	UTSW	6	55301087	missense	possibly damaging	0.91
R9045:Mindy4	UTSW	6	55318298	missense	probably benign	0.16
R9185:Mindy4	UTSW	6	55318276	missense	possibly damaging	0.88
X0065:Mindy4	UTSW	6	55262816	missense	probably damaging	0.99
Z1177:Mindy4	UTSW	6	55224341	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGGAGATTAACTTGGACAGTCCTC -3'
(R):5'- GCTTCTGACCATGATGTCCG -3'

Sequencing Primer
(F):5'- CTCACAGTGCACAAGATAGTGGTTC -3'
(R):5'- CCCGTATCTTCATCTGAAAGGTCG -3'

Posted On

2015-04-02