Mutagenetix > Incidental Mutation

Incidental Mutation 'R1210:Mindy4'

100646

Institutional Source

Beutler Lab

Gene Symbol

Mindy4

Ensembl Gene

ENSMUSG00000038022

Gene Name

MINDY lysine 48 deubiquitinase 4

Synonyms

Fam188b, C330043M08Rik, LOC384387

MMRRC Submission

039279-MU

Accession Numbers

Essential gene?

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

Stock #

R1210 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

55180368-55297207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55261798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 569 (L569H)

Ref Sequence

ENSEMBL: ENSMUSP00000061221 (fasta)

Gene Model

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

AlphaFold

Q3UQI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053094
AA Change: L569H

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022
AA Change: L569H

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

noncoding transcript
Transcript: ENSMUST00000203225

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 93.9%
20x: 83.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Clec7a	T	C	6: 129,442,488 (GRCm39)	I180V	probably damaging	Het
Csf3	A	G	11: 98,593,303 (GRCm39)	D140G	probably damaging	Het
Cwf19l2	T	C	9: 3,430,810 (GRCm39)	S381P	probably benign	Het
Eef1b2	A	G	1: 63,216,432 (GRCm39)	D21G	probably damaging	Het
Fam83a	A	T	15: 57,858,644 (GRCm39)	Y228F	possibly damaging	Het
Gm5422	A	G	10: 31,126,719 (GRCm39)		noncoding transcript	Het
Itga5	A	G	15: 103,265,900 (GRCm39)	V149A	possibly damaging	Het
Lrrfip1	A	G	1: 91,042,915 (GRCm39)	H440R	probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mme	A	G	3: 63,251,027 (GRCm39)	K356R	probably benign	Het
Nfkb1	A	G	3: 135,300,688 (GRCm39)	I626T	probably benign	Het
Or2f1b	T	C	6: 42,739,601 (GRCm39)	V205A	possibly damaging	Het
Or2t6	T	C	14: 14,176,029 (GRCm38)	T18A	probably benign	Het
Or4c100	G	C	2: 88,356,620 (GRCm39)	R231P	possibly damaging	Het
Or5k1b	T	C	16: 58,581,413 (GRCm39)	N42S	probably damaging	Het
Rock2	T	A	12: 17,015,470 (GRCm39)	V789D	probably damaging	Het
Sav1	A	G	12: 70,015,953 (GRCm39)	Y282H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r89	T	C	14: 51,692,427 (GRCm39)	F77L	probably benign	Het
Vps50	G	A	6: 3,594,884 (GRCm39)	V816I	probably damaging	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
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
R9185:Mindy4	UTSW	6	55,295,261 (GRCm39)	missense	possibly damaging	0.88
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'- TGACTCCTGTGACTGTGCTGGAAG -3'
(R):5'- TGCTGGGTTCCCTAATGGCAAC -3'

Sequencing Primer
(F):5'- ACTGTGCTGGAAGCCGTG -3'
(R):5'- AGTTGCCTGCAAGGTCTC -3'

Posted On

2014-01-15