Mutagenetix > Incidental Mutation

Incidental Mutation 'R8894:Mindy4'

677879

Institutional Source

Beutler Lab

Gene Symbol

Mindy4

Ensembl Gene

ENSMUSG00000038022

Gene Name

MINDY lysine 48 deubiquitinase 4

Synonyms

Fam188b, C330043M08Rik, LOC384387

MMRRC Submission

068697-MU

Accession Numbers

Essential gene?

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

Stock #

R8894 (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 55255223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 567 (L567P)

Ref Sequence

ENSEMBL: ENSMUSP00000145151 (fasta)

Gene Model

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

AlphaFold

Q3UQI9

Predicted Effect

probably benign
Transcript: ENSMUST00000053094

SMART Domains

Protein: ENSMUSP00000061221
Gene: ENSMUSG00000038022

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: L567P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000145151
Gene: ENSMUSG00000038022
AA Change: L567P

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	T	9: 46,216,397 (GRCm39)	V291M	probably benign	Het
Abca14	A	C	7: 119,847,368 (GRCm39)	Y744S	probably damaging	Het
Acly	T	C	11: 100,407,639 (GRCm39)	E237G	probably benign	Het
Adcy1	T	A	11: 7,087,375 (GRCm39)	D416E	probably damaging	Het
Arid1b	T	A	17: 5,377,668 (GRCm39)	M1217K	probably damaging	Het
Atad2b	T	C	12: 5,064,001 (GRCm39)		probably null	Het
Ccdc177	A	G	12: 80,806,077 (GRCm39)	S66P	probably damaging	Het
Clpsl2	T	C	17: 28,769,645 (GRCm39)	C36R	possibly damaging	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Crb1	T	A	1: 139,175,750 (GRCm39)	L744F	possibly damaging	Het
Crybg3	T	A	16: 59,342,552 (GRCm39)	E980D	probably damaging	Het
Cyp2d11	A	T	15: 82,274,671 (GRCm39)	V302E	probably benign	Het
Cyp3a25	A	C	5: 145,931,670 (GRCm39)		probably benign	Het
Dhx35	G	C	2: 158,676,795 (GRCm39)	A410P	possibly damaging	Het
Dlg2	A	T	7: 91,614,946 (GRCm39)	H295L	probably benign	Het
Dnah2	T	A	11: 69,383,048 (GRCm39)	M1172L	probably benign	Het
Dock9	T	C	14: 121,860,373 (GRCm39)	S850G	probably benign	Het
Dst	A	T	1: 34,213,214 (GRCm39)	M1369L	possibly damaging	Het
Fcrl6	T	C	1: 172,426,856 (GRCm39)	N30S	probably benign	Het
Fibp	A	T	19: 5,513,309 (GRCm39)	Q208L	probably benign	Het
Foxc1	T	G	13: 31,992,205 (GRCm39)	S339A	unknown	Het
Fras1	T	C	5: 96,907,402 (GRCm39)	C3196R	probably damaging	Het
Galnt7	C	T	8: 57,979,176 (GRCm39)	W649*	probably null	Het
H2-M10.2	T	C	17: 36,595,555 (GRCm39)	N245S	possibly damaging	Het
Hapln3	G	A	7: 78,767,239 (GRCm39)	R267W	probably benign	Het
Hkdc1	T	C	10: 62,244,400 (GRCm39)	I229V	probably damaging	Het
Kank1	G	A	19: 25,408,378 (GRCm39)	G1286R	probably damaging	Het
Krba1	A	G	6: 48,388,629 (GRCm39)	I543V	probably damaging	Het
Lipn	A	T	19: 34,062,248 (GRCm39)	*401L	probably null	Het
Lrrc37a	T	C	11: 103,347,449 (GRCm39)	N3082S	unknown	Het
Magi1	A	T	6: 93,663,586 (GRCm39)	F1117Y	probably benign	Het
Man2a1	A	G	17: 65,020,596 (GRCm39)	K791E	probably benign	Het
Mpp4	A	G	1: 59,197,743 (GRCm39)		probably null	Het
Muc2	T	G	7: 141,280,758 (GRCm39)	C371W	probably damaging	Het
Nebl	A	T	2: 17,380,036 (GRCm39)	N779K	probably benign	Het
Nf1	T	C	11: 79,336,619 (GRCm39)	L1066P	probably damaging	Het
Npat	T	C	9: 53,467,951 (GRCm39)	L302P	probably damaging	Het
Nudt21	C	A	8: 94,755,498 (GRCm39)	G146W	probably damaging	Het
Or10al6	T	A	17: 38,082,940 (GRCm39)	I132K	probably damaging	Het
Or10g1	A	T	14: 52,647,465 (GRCm39)	L288Q	probably damaging	Het
Or4c11c	T	G	2: 88,661,809 (GRCm39)	M116R	probably benign	Het
Or8c13	A	T	9: 38,091,370 (GRCm39)	F250I	probably damaging	Het
Pkd2l2	T	C	18: 34,571,273 (GRCm39)		probably benign	Het
Plcd3	T	A	11: 102,962,592 (GRCm39)	N620Y	probably damaging	Het
Ppl	T	C	16: 4,925,206 (GRCm39)		probably benign	Het
Pramel41	T	G	5: 94,596,399 (GRCm39)	C479G	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Psap	T	A	10: 60,135,736 (GRCm39)	V394E	possibly damaging	Het
Ptprr	T	A	10: 115,884,250 (GRCm39)	D102E	probably benign	Het
Rgsl1	T	A	1: 153,698,119 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,850,454 (GRCm39)	D943V	possibly damaging	Het
Rsrc2	G	T	5: 123,878,793 (GRCm39)	R113S	unknown	Het
Sim1	T	A	10: 50,786,626 (GRCm39)	V286E	possibly damaging	Het
Slc35d1	A	T	4: 103,068,529 (GRCm39)	F124L		Het
Sort1	T	C	3: 108,246,228 (GRCm39)	F402L	probably damaging	Het
Spata31f1a	A	G	4: 42,853,688 (GRCm39)	C47R	possibly damaging	Het
Tlr2	T	A	3: 83,744,091 (GRCm39)	E664V	probably damaging	Het
Tmppe	A	T	9: 114,230,260 (GRCm39)		probably benign	Het
Tnfrsf8	T	C	4: 145,001,038 (GRCm39)	D356G	possibly damaging	Het
Tnrc18	T	C	5: 142,725,212 (GRCm39)	E1839G	unknown	Het
Trgv4	T	C	13: 19,369,627 (GRCm39)	S124P	probably damaging	Het
Trim17	T	A	11: 58,859,536 (GRCm39)	M250K	probably benign	Het
Trim33	C	T	3: 103,218,807 (GRCm39)	L315F	probably damaging	Het
Vmn1r43	A	G	6: 89,846,746 (GRCm39)	S247P	probably benign	Het
Vmn2r33	T	A	7: 7,566,809 (GRCm39)	Y101F	probably benign	Het
Vmn2r40	T	C	7: 8,923,197 (GRCm39)	D388G		Het
Wdr36	C	T	18: 32,970,340 (GRCm39)		probably benign	Het
Zfp2	T	A	11: 50,791,843 (GRCm39)	I67F	possibly 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
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
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'- AGAGTGAGCCTTTTCCTCTGTTAG -3'
(R):5'- ACACGGGGTACTGAGGTTAC -3'

Sequencing Primer
(F):5'- TTTAGGGCTTCAGGAACACC -3'
(R):5'- CCTCTATACCAATGCATATGGAGGG -3'

Posted On

2021-08-02