Mutagenetix > Incidental Mutation

Incidental Mutation 'R3971:Psma8'

310998

Institutional Source

Beutler Lab

Gene Symbol

Psma8

Ensembl Gene

ENSMUSG00000036743

Gene Name

proteasome subunit alpha 8

Synonyms

2410072D24Rik

MMRRC Submission

040839-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R3971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14839208-14895358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14890444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 195 (K195E)

Ref Sequence

ENSEMBL: ENSMUSP00000042590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040860]

AlphaFold

Q9CWH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040860
AA Change: K195E

PolyPhen 2 Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042590
Gene: ENSMUSG00000036743
AA Change: K195E

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.84e-9	SMART
Pfam:Proteasome	28	213	3.3e-66	PFAM
low complexity region	226	237	N/A	INTRINSIC

Meta Mutation Damage Score

0.1013

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.3%

Validation Efficiency

95% (38/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	C	T	8: 60,971,615 (GRCm39)	P147L	probably damaging	Het
Apbb1ip	T	A	2: 22,713,506 (GRCm39)	D120E	unknown	Het
Atp10b	A	G	11: 43,107,339 (GRCm39)	D791G	probably damaging	Het
Aunip	A	G	4: 134,250,780 (GRCm39)	K242E	possibly damaging	Het
Ccdc80	A	G	16: 44,916,183 (GRCm39)	E313G	probably benign	Het
Cd72	C	T	4: 43,449,491 (GRCm39)	R275H	probably damaging	Het
Chrnb1	A	G	11: 69,683,742 (GRCm39)		probably benign	Het
Coro2b	C	T	9: 62,336,522 (GRCm39)	A251T	possibly damaging	Het
Cspg4b	A	G	13: 113,453,660 (GRCm39)	E41G	probably damaging	Het
Ddr2	A	G	1: 169,815,986 (GRCm39)	F574L	probably damaging	Het
Dock1	G	A	7: 134,348,637 (GRCm39)	D284N	probably damaging	Het
Dync1h1	A	G	12: 110,632,399 (GRCm39)	H4506R	probably benign	Het
Fam174b	T	C	7: 73,416,348 (GRCm39)	V147A	probably damaging	Het
Glp2r	T	A	11: 67,637,641 (GRCm39)	D130V	possibly damaging	Het
Gm18856	A	T	13: 14,139,433 (GRCm39)		probably benign	Het
Gm7247	A	G	14: 51,602,841 (GRCm39)	Y59C	probably damaging	Het
Hecw1	T	C	13: 14,411,514 (GRCm39)	D1062G	probably damaging	Het
Ifit2	A	G	19: 34,551,441 (GRCm39)	E327G	probably benign	Het
Ighv1-37	A	T	12: 114,860,079 (GRCm39)	S43T	probably damaging	Het
Man2b1	A	G	8: 85,812,020 (GRCm39)	N158S	probably damaging	Het
Mcoln1	T	A	8: 3,557,408 (GRCm39)	I138K	probably benign	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mrc2	G	A	11: 105,218,857 (GRCm39)	D193N	possibly damaging	Het
Myo5b	C	T	18: 74,873,598 (GRCm39)	L1501F	probably damaging	Het
Nckap1l	A	G	15: 103,370,987 (GRCm39)	K189E	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6c69	T	C	10: 129,747,742 (GRCm39)	N135S	probably benign	Het
Otop1	A	G	5: 38,457,533 (GRCm39)	I431V	probably benign	Het
Rbm25	A	G	12: 83,721,982 (GRCm39)	T723A	probably benign	Het
Sema3b	A	G	9: 107,477,567 (GRCm39)	S485P	probably benign	Het
Slc12a2	T	A	18: 58,063,268 (GRCm39)	L916Q	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,971 (GRCm39)	D719V	possibly damaging	Het
Synj1	A	G	16: 90,788,491 (GRCm39)	S86P	probably damaging	Het
Tmem130	T	A	5: 144,692,131 (GRCm39)	H91L	probably benign	Het
Tsc2	T	C	17: 24,842,562 (GRCm39)	D288G	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vps35l	T	C	7: 118,433,022 (GRCm39)	I585T	probably damaging	Het
Wac	T	C	18: 7,916,175 (GRCm39)	V303A	probably damaging	Het
Zfhx2	A	G	14: 55,311,932 (GRCm39)	V254A	probably benign	Het
Zfp993	A	G	4: 146,742,089 (GRCm39)	T138A	probably benign	Het

Other mutations in Psma8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0014:Psma8	UTSW	18	14,859,587 (GRCm39)	missense	possibly damaging	0.84
R0014:Psma8	UTSW	18	14,859,587 (GRCm39)	missense	possibly damaging	0.84
R1975:Psma8	UTSW	18	14,864,033 (GRCm39)	splice site	probably null
R4280:Psma8	UTSW	18	14,854,292 (GRCm39)	missense	probably benign	0.00
R4424:Psma8	UTSW	18	14,854,247 (GRCm39)	missense	probably damaging	0.99
R4466:Psma8	UTSW	18	14,854,231 (GRCm39)	missense	possibly damaging	0.74
R6258:Psma8	UTSW	18	14,854,324 (GRCm39)	missense	probably damaging	1.00
R6260:Psma8	UTSW	18	14,854,324 (GRCm39)	missense	probably damaging	1.00
R8989:Psma8	UTSW	18	14,890,404 (GRCm39)	missense	probably benign	0.00
R9037:Psma8	UTSW	18	14,854,251 (GRCm39)	missense	probably benign	0.26
R9393:Psma8	UTSW	18	14,839,298 (GRCm39)	missense	probably null	0.99
Z1177:Psma8	UTSW	18	14,859,600 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CCCCAAAACCTGGTCATATATGG -3'
(R):5'- CTAGTGTGGAGCAAGGACAC -3'

Sequencing Primer
(F):5'- TGTCCGGGAATTTCTGGA -3'
(R):5'- ACAGCTCAGTGGTACAGTATGTGC -3'

Posted On

2015-04-29