Mutagenetix > Incidental Mutation

Incidental Mutation 'R4466:Psma8'

330372

Institutional Source

Beutler Lab

Gene Symbol

Psma8

Ensembl Gene

ENSMUSG00000036743

Gene Name

proteasome subunit alpha 8

Synonyms

2410072D24Rik

MMRRC Submission

041723-MU

Accession Numbers

Essential gene?

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

Stock #

R4466 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14839208-14895358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14854231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 37 (I37T)

Ref Sequence

ENSEMBL: ENSMUSP00000042590 (fasta)

Gene Model

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

AlphaFold

Q9CWH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040860
AA Change: I37T

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042590
Gene: ENSMUSG00000036743
AA Change: I37T

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

0.6805

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	A	T	3: 59,745,887 (GRCm39)		noncoding transcript	Het
Adgra1	T	A	7: 139,420,752 (GRCm39)		probably benign	Het
Akap13	T	A	7: 75,252,521 (GRCm39)		probably null	Het
Amn1	T	C	6: 149,068,343 (GRCm39)		probably null	Het
Ano5	T	A	7: 51,220,023 (GRCm39)	F374I	probably damaging	Het
Apol7c	T	C	15: 77,410,664 (GRCm39)	E94G	probably benign	Het
Arid4b	A	T	13: 14,307,095 (GRCm39)	S117C	probably damaging	Het
Atm	C	A	9: 53,359,469 (GRCm39)	E2778*	probably null	Het
Cped1	A	T	6: 22,123,651 (GRCm39)	Q468L	probably benign	Het
Crygb	A	G	1: 65,119,645 (GRCm39)	S112P	probably damaging	Het
Eeig2	T	A	3: 108,887,124 (GRCm39)	R291S	probably benign	Het
Eml4	C	T	17: 83,729,103 (GRCm39)	Q93*	probably null	Het
Eps15	G	A	4: 109,223,727 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fhad1	A	T	4: 141,684,969 (GRCm39)	S457T	probably damaging	Het
Frmd4b	A	G	6: 97,300,614 (GRCm39)		probably null	Het
Gm5134	G	C	10: 75,844,409 (GRCm39)	K588N	probably benign	Het
Gpr21	A	G	2: 37,407,570 (GRCm39)	T39A	probably benign	Het
Irx1	C	A	13: 72,108,101 (GRCm39)	G194W	probably damaging	Het
Itgal	C	T	7: 126,927,684 (GRCm39)	T992I	possibly damaging	Het
Itpr3	T	C	17: 27,325,316 (GRCm39)	L1303P	probably damaging	Het
Kdm2a	A	T	19: 4,370,328 (GRCm39)	D1052E	probably damaging	Het
Klhl6	T	C	16: 19,776,018 (GRCm39)	D180G	probably damaging	Het
M6pr	A	G	6: 122,290,228 (GRCm39)	T64A	probably benign	Het
Mrpl47	G	A	3: 32,784,240 (GRCm39)	R177*	probably null	Het
Mtfr2	A	G	10: 20,224,159 (GRCm39)	Y31C	probably damaging	Het
Mup6	T	C	4: 60,004,000 (GRCm39)	I31T	probably damaging	Het
Oas2	A	G	5: 120,887,667 (GRCm39)	S58P	probably damaging	Het
Or1j11	A	T	2: 36,312,308 (GRCm39)	R299S	probably benign	Het
Or5b124	G	A	19: 13,610,801 (GRCm39)	E109K	probably damaging	Het
Or8b36	T	A	9: 37,937,479 (GRCm39)	C126S	probably damaging	Het
Polr1b	A	T	2: 128,965,802 (GRCm39)	I815L	probably benign	Het
Ryr3	T	C	2: 112,483,447 (GRCm39)	E4100G	possibly damaging	Het
Serpina3g	C	T	12: 104,204,182 (GRCm39)		probably benign	Het
Serpina3m	A	T	12: 104,357,874 (GRCm39)	Y266F	probably damaging	Het
Sez6l2	T	A	7: 126,559,023 (GRCm39)	D423E	probably damaging	Het
Sh3gl2	A	G	4: 85,299,688 (GRCm39)	E224G	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,353,146 (GRCm39)	V105A	possibly damaging	Het
Slc24a2	A	T	4: 87,146,099 (GRCm39)		probably benign	Het
Smyd2	A	G	1: 189,614,349 (GRCm39)	M393T	probably benign	Het
Sox8	C	A	17: 25,787,879 (GRCm39)	G190V	probably benign	Het
Stag2	A	G	X: 41,322,749 (GRCm39)	S400G	probably benign	Het
Stk35	C	A	2: 129,643,436 (GRCm39)	T140K	probably damaging	Het
Taf6	A	C	5: 138,179,463 (GRCm39)		probably benign	Het
Ten1	A	C	11: 116,095,823 (GRCm39)		probably benign	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Ttn	A	G	2: 76,544,044 (GRCm39)	F32981L	probably damaging	Het
Zik1	G	T	7: 10,224,893 (GRCm39)	T68K	probably benign	Het
Zzef1	T	A	11: 72,815,485 (GRCm39)	I2935N	probably damaging	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
R3971:Psma8	UTSW	18	14,890,444 (GRCm39)	missense	possibly damaging	0.56
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
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'- TTTCATGCACCACTGATTGC -3'
(R):5'- TAGCCCTCACCTATGTTTAAGGATC -3'

Sequencing Primer
(F):5'- ATGCACCACTGATTGCATTTTC -3'
(R):5'- CATAGGTACCACTGAGAGTCTGTAC -3'

Posted On

2015-07-21