Mutagenetix > Incidental Mutation

Incidental Mutation 'R9185:Mindy4'

697301

Institutional Source

Beutler Lab

Gene Symbol

Mindy4

Ensembl Gene

ENSMUSG00000038022

Gene Name

MINDY lysine 48 deubiquitinase 4

Synonyms

Fam188b, C330043M08Rik, LOC384387

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R9185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55180368-55297207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55295261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 734 (S734P)

Ref Sequence

ENSEMBL: ENSMUSP00000061221 (fasta)

Gene Model

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

AlphaFold

Q3UQI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053094
AA Change: S734P

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: S734P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,177,421 (GRCm39)	H312R	possibly damaging	Het
Aloxe3	T	C	11: 69,025,114 (GRCm39)	F409S	probably damaging	Het
Arfgef1	T	A	1: 10,215,004 (GRCm39)	N1630I	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cbl	A	G	9: 44,064,137 (GRCm39)	S800P	probably damaging	Het
Ccne1	A	T	7: 37,799,255 (GRCm39)	S220T	probably benign	Het
Cd177	T	C	7: 24,443,668 (GRCm39)	Y810C	probably benign	Het
Cercam	T	C	2: 29,766,033 (GRCm39)	V304A	possibly damaging	Het
Cfap100	T	C	6: 90,390,416 (GRCm39)	T75A		Het
Clcn4	T	A	7: 7,287,197 (GRCm39)	I744F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,246,887 (GRCm39)	N1670S	unknown	Het
Cps1	G	A	1: 67,248,831 (GRCm39)	R1186Q	probably benign	Het
Cr1l	C	A	1: 194,797,053 (GRCm39)	C328F	probably damaging	Het
Crybg1	T	A	10: 43,880,091 (GRCm39)	T366S	probably benign	Het
Ctbp2	A	T	7: 132,615,712 (GRCm39)	S408T	probably damaging	Het
Dync1h1	T	C	12: 110,601,937 (GRCm39)	S1992P	probably benign	Het
Glyatl3	A	T	17: 41,225,234 (GRCm39)	V3E	probably damaging	Het
Gse1	T	C	8: 121,294,908 (GRCm39)	M343T	possibly damaging	Het
Gys2	T	C	6: 142,405,112 (GRCm39)	D225G	probably damaging	Het
Hecw1	T	C	13: 14,491,628 (GRCm39)	S42G	probably damaging	Het
Helz2	A	G	2: 180,871,883 (GRCm39)	C2673R	probably benign	Het
Hivep1	G	A	13: 42,337,975 (GRCm39)	V2685I	possibly damaging	Het
Icam5	A	G	9: 20,950,165 (GRCm39)	E908G	probably damaging	Het
Kcne1	A	T	16: 92,145,796 (GRCm39)	L16Q	possibly damaging	Het
Kcnk5	G	T	14: 20,195,135 (GRCm39)	Y118*	probably null	Het
Kctd11	T	C	11: 69,770,676 (GRCm39)	T121A	possibly damaging	Het
Mier3	T	C	13: 111,851,260 (GRCm39)	V414A	probably benign	Het
Mrps26	T	C	2: 130,405,769 (GRCm39)	V24A	probably benign	Het
Mug2	C	G	6: 122,054,442 (GRCm39)	Q1074E	probably benign	Het
Myo15b	T	C	11: 115,771,255 (GRCm39)	S1P	unknown	Het
Ninj1	A	T	13: 49,344,726 (GRCm39)	T81S	probably benign	Het
Nod2	A	T	8: 89,391,880 (GRCm39)	H729L	probably damaging	Het
Nr1i3	G	A	1: 171,043,955 (GRCm39)	V49I	possibly damaging	Het
Olfm5	G	A	7: 103,810,095 (GRCm39)	Q89*	probably null	Het
Or10ag52	A	T	2: 87,044,174 (GRCm39)	T313S	probably benign	Het
Or2n1b	A	T	17: 38,459,754 (GRCm39)	I92F	probably damaging	Het
Or2y12	T	C	11: 49,426,501 (GRCm39)	V163A	probably benign	Het
Or4e1	A	G	14: 52,700,984 (GRCm39)	S161P	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or5aq6	A	C	2: 86,923,200 (GRCm39)	D180E	possibly damaging	Het
Or5b124	A	T	19: 13,610,765 (GRCm39)	T97S	probably benign	Het
Or8g53	T	A	9: 39,683,404 (GRCm39)	T231S	probably benign	Het
Pde4dip	T	A	3: 97,666,132 (GRCm39)	T371S	probably benign	Het
Pkhd1l1	T	A	15: 44,453,019 (GRCm39)	S3981R	probably benign	Het
Plxnd1	G	T	6: 115,934,526 (GRCm39)	F1802L	probably damaging	Het
Pramel22	T	C	4: 143,381,898 (GRCm39)	N266S	probably benign	Het
Prcp	A	G	7: 92,582,257 (GRCm39)	H449R	probably benign	Het
Prrc2c	A	G	1: 162,532,212 (GRCm39)	W1468R	unknown	Het
Rcvrn	A	G	11: 67,586,480 (GRCm39)	T80A	possibly damaging	Het
Rhou	T	C	8: 124,387,793 (GRCm39)	L175P	probably damaging	Het
Sacs	T	C	14: 61,444,115 (GRCm39)	S2054P	probably damaging	Het
Slc22a30	A	G	19: 8,321,917 (GRCm39)	S414P	probably benign	Het
Slc2a13	T	A	15: 91,227,906 (GRCm39)	S429C	probably damaging	Het
Slc35b3	A	G	13: 39,123,958 (GRCm39)		probably benign	Het
Smyd3	A	G	1: 178,877,854 (GRCm39)		probably null	Het
Strip1	T	A	3: 107,535,530 (GRCm39)	E64D	probably damaging	Het
Sumf2	T	G	5: 129,875,909 (GRCm39)	C25G	possibly damaging	Het
Syngap1	A	C	17: 27,182,057 (GRCm39)	D1190A	possibly damaging	Het
Tas2r139	C	T	6: 42,118,099 (GRCm39)	T77I	probably benign	Het
Tbce	A	T	13: 14,173,027 (GRCm39)	V468D	probably damaging	Het
Tmem191	G	A	16: 17,094,302 (GRCm39)	R42H	probably damaging	Het
Tmem200c	T	C	17: 69,147,633 (GRCm39)	V72A	probably damaging	Het
Ttc28	T	G	5: 111,371,342 (GRCm39)	F628C	probably benign	Het
Wsb2	G	A	5: 117,501,736 (GRCm39)	V34M	possibly damaging	Het
Zfand6	A	G	7: 84,283,558 (GRCm39)	S15P	probably damaging	Het
Zfp964	A	G	8: 70,115,873 (GRCm39)	N158D	possibly damaging	Het
Zic1	G	T	9: 91,246,542 (GRCm39)	Q177K	probably benign	Het
Zswim4	T	C	8: 84,963,633 (GRCm39)	M1V	probably null	Het

Other mutations in Mindy4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Mindy4	APN	6	55,261,727 (GRCm39)	splice site	probably benign
IGL01483:Mindy4	APN	6	55,193,670 (GRCm39)	missense	probably damaging	1.00
IGL01721:Mindy4	APN	6	55,200,984 (GRCm39)	missense	probably damaging	1.00
IGL01965:Mindy4	APN	6	55,237,517 (GRCm39)	splice site	probably benign
IGL02214:Mindy4	APN	6	55,193,636 (GRCm39)	missense	possibly damaging	0.88
IGL03058:Mindy4	APN	6	55,285,183 (GRCm39)	missense	probably damaging	1.00
IGL03077:Mindy4	APN	6	55,286,315 (GRCm39)	missense	probably damaging	1.00
IGL03296:Mindy4	APN	6	55,274,738 (GRCm39)	critical splice donor site	probably null
R0383:Mindy4	UTSW	6	55,253,619 (GRCm39)	missense	probably benign	0.00
R0384:Mindy4	UTSW	6	55,193,669 (GRCm39)	missense	probably damaging	1.00
R0636:Mindy4	UTSW	6	55,253,570 (GRCm39)	missense	possibly damaging	0.73
R0848:Mindy4	UTSW	6	55,295,271 (GRCm39)	nonsense	probably null
R1171:Mindy4	UTSW	6	55,232,601 (GRCm39)	missense	possibly damaging	0.75
R1210:Mindy4	UTSW	6	55,261,798 (GRCm39)	missense	possibly damaging	0.92
R1341:Mindy4	UTSW	6	55,232,601 (GRCm39)	missense	probably benign	0.00
R2030:Mindy4	UTSW	6	55,188,247 (GRCm39)	missense	probably damaging	1.00
R2127:Mindy4	UTSW	6	55,195,250 (GRCm39)	missense	probably benign	0.05
R2237:Mindy4	UTSW	6	55,278,055 (GRCm39)	missense	probably damaging	1.00
R2238:Mindy4	UTSW	6	55,278,055 (GRCm39)	missense	probably damaging	1.00
R2250:Mindy4	UTSW	6	55,277,934 (GRCm39)	missense	probably damaging	0.99
R2571:Mindy4	UTSW	6	55,261,770 (GRCm39)	missense	probably damaging	1.00
R2846:Mindy4	UTSW	6	55,255,085 (GRCm39)	missense	probably damaging	1.00
R3001:Mindy4	UTSW	6	55,195,349 (GRCm39)	missense	probably benign	0.21
R3002:Mindy4	UTSW	6	55,195,349 (GRCm39)	missense	probably benign	0.21
R3498:Mindy4	UTSW	6	55,193,510 (GRCm39)	missense	probably benign	0.01
R4167:Mindy4	UTSW	6	55,201,331 (GRCm39)	missense	possibly damaging	0.93
R4767:Mindy4	UTSW	6	55,237,550 (GRCm39)	missense	probably damaging	0.98
R4812:Mindy4	UTSW	6	55,256,088 (GRCm39)	missense	possibly damaging	0.64
R5109:Mindy4	UTSW	6	55,193,730 (GRCm39)	splice site	probably null
R5203:Mindy4	UTSW	6	55,232,646 (GRCm39)	missense	probably benign	0.00
R5221:Mindy4	UTSW	6	55,201,092 (GRCm39)	missense	probably benign
R5628:Mindy4	UTSW	6	55,237,579 (GRCm39)	missense	probably damaging	0.98
R6265:Mindy4	UTSW	6	55,278,049 (GRCm39)	missense	probably damaging	0.99
R6596:Mindy4	UTSW	6	55,201,001 (GRCm39)	missense	probably damaging	0.99
R7084:Mindy4	UTSW	6	55,255,220 (GRCm39)	missense	probably benign
R7350:Mindy4	UTSW	6	55,278,010 (GRCm39)	missense	probably damaging	0.97
R7535:Mindy4	UTSW	6	55,274,738 (GRCm39)	critical splice donor site	probably null
R7625:Mindy4	UTSW	6	55,253,598 (GRCm39)	missense	possibly damaging	0.95
R8052:Mindy4	UTSW	6	55,277,977 (GRCm39)	missense	probably damaging	0.99
R8727:Mindy4	UTSW	6	55,256,055 (GRCm39)	unclassified	probably benign
R8884:Mindy4	UTSW	6	55,255,223 (GRCm39)	missense	probably benign	0.00
R8886:Mindy4	UTSW	6	55,255,223 (GRCm39)	missense	probably benign	0.00
R8890:Mindy4	UTSW	6	55,255,223 (GRCm39)	missense	probably benign	0.00
R8892:Mindy4	UTSW	6	55,255,223 (GRCm39)	missense	probably benign	0.00
R8893:Mindy4	UTSW	6	55,255,223 (GRCm39)	missense	probably benign	0.00
R8894:Mindy4	UTSW	6	55,255,223 (GRCm39)	missense	probably benign	0.00
R8896:Mindy4	UTSW	6	55,255,223 (GRCm39)	missense	probably benign	0.00
R8932:Mindy4	UTSW	6	55,201,115 (GRCm39)	missense	probably benign
R9018:Mindy4	UTSW	6	55,278,072 (GRCm39)	missense	possibly damaging	0.91
R9045:Mindy4	UTSW	6	55,295,283 (GRCm39)	missense	probably benign	0.16
X0065:Mindy4	UTSW	6	55,239,801 (GRCm39)	missense	probably damaging	0.99
Z1177:Mindy4	UTSW	6	55,201,326 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AACATATCAAGGTACCGTCAGC -3'
(R):5'- AACTGGAAGACTGAGCATGC -3'

Sequencing Primer
(F):5'- TATCAAGGTACCGTCAGCTATGC -3'
(R):5'- TGCCTCTGTGGACATGCAAAC -3'

Posted On

2022-02-07