Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Mindy2'

199725

Institutional Source

Beutler Lab

Gene Symbol

Mindy2

Ensembl Gene

ENSMUSG00000042444

Gene Name

MINDY lysine 48 deubiquitinase 2

Synonyms

Fam63b, B230380D07Rik

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70506296-70564456 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70538312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 341 (I341T)

Ref Sequence

ENSEMBL: ENSMUSP00000150300 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049031] [ENSMUST00000213380]

AlphaFold

Q6PDI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000049031
AA Change: I341T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037035
Gene: ENSMUSG00000042444
AA Change: I341T

Domain	Start	End	E-Value	Type
low complexity region	22	41	N/A	INTRINSIC
low complexity region	79	86	N/A	INTRINSIC
low complexity region	126	173	N/A	INTRINSIC
low complexity region	186	195	N/A	INTRINSIC
Pfam:DUF544	250	373	6.9e-42	PFAM
low complexity region	498	508	N/A	INTRINSIC
low complexity region	535	570	N/A	INTRINSIC
low complexity region	578	595	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000213380
AA Change: I341T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214293

Meta Mutation Damage Score

0.8814

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	probably benign	Het

Other mutations in Mindy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:Mindy2	APN	9	70,541,285 (GRCm39)	critical splice donor site	probably null
IGL00770:Mindy2	APN	9	70,538,315 (GRCm39)	missense	probably benign	0.05
IGL00774:Mindy2	APN	9	70,538,315 (GRCm39)	missense	probably benign	0.05
IGL01889:Mindy2	APN	9	70,538,444 (GRCm39)	splice site	probably benign
IGL02860:Mindy2	APN	9	70,563,826 (GRCm39)	missense	probably damaging	1.00
R0100:Mindy2	UTSW	9	70,514,731 (GRCm39)	splice site	probably benign
R0563:Mindy2	UTSW	9	70,538,334 (GRCm39)	missense	possibly damaging	0.77
R1109:Mindy2	UTSW	9	70,538,361 (GRCm39)	nonsense	probably null
R1446:Mindy2	UTSW	9	70,514,738 (GRCm39)	critical splice donor site	probably null
R2156:Mindy2	UTSW	9	70,563,874 (GRCm39)	missense	probably benign	0.01
R4091:Mindy2	UTSW	9	70,541,342 (GRCm39)	missense	probably damaging	0.98
R4290:Mindy2	UTSW	9	70,538,376 (GRCm39)	missense	probably damaging	1.00
R4626:Mindy2	UTSW	9	70,534,063 (GRCm39)	missense	probably damaging	1.00
R4791:Mindy2	UTSW	9	70,541,283 (GRCm39)	splice site	probably null
R4973:Mindy2	UTSW	9	70,512,453 (GRCm39)	missense	possibly damaging	0.86
R6077:Mindy2	UTSW	9	70,538,363 (GRCm39)	missense	probably damaging	1.00
R6237:Mindy2	UTSW	9	70,512,480 (GRCm39)	missense	possibly damaging	0.72
R6872:Mindy2	UTSW	9	70,524,044 (GRCm39)	critical splice donor site	probably null
R7307:Mindy2	UTSW	9	70,518,241 (GRCm39)	missense	possibly damaging	0.89
R7521:Mindy2	UTSW	9	70,514,792 (GRCm39)	missense	probably benign	0.18
R7638:Mindy2	UTSW	9	70,524,141 (GRCm39)	missense	probably damaging	1.00
R9541:Mindy2	UTSW	9	70,512,508 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGGGTCACTGACAGGCaattaaacaa -3'
(R):5'- ACATTTATTCTGAGGGATCAGGAGGCA -3'

Sequencing Primer
(F):5'- tgtatgtctgtgtcccagtg -3'
(R):5'- tcgttttgtttggtttggtttg -3'

Posted On

2014-05-23